si:dkey-25e12.6

Ensembl ID:
ENSDARG00000091891
ZFIN ID:
ZDB-GENE-041001-134
Description:
Novel protein similar to methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahyd
Human Orthologues:
AL445665.1, MTHFD2, MTHFD2L
Human Descriptions:
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like [Source:HGNC Symbol;Acc:31865]
Mouse Orthologues:
Mthfd2, Mthfd2l
Mouse Descriptions:
methylenetetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase Ge
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like Gene [Source:MGI Symbol;Acc:MGI:191

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa17397 Essential Splice Site Available for shipment Available now
sa44942 Essential Splice Site Mutation detected in F1 DNA During 2018
sa915 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa17397
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000147154 Essential Splice Site 6 122 None 5
ENSDART00000147154 Essential Splice Site 6 122 None 5

The following transcripts of ENSDARG00000091891 do not overlap with this mutation:

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 20 (position 26521155)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 26592458
GRCz11 20 26491548
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGAAGTTGCTGCTCAGGGAAGCCGTTTTCAGTTCCTGTATAACTTGCAGG[T/C]GAGAACAGACGCAAGTAGTTACAGTGTAGAAGAAAACAAACAAAATGATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44942
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000147154 Essential Splice Site 93 122 None 5

The following transcripts of ENSDARG00000091891 do not overlap with this mutation:

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 20 (position 26518392)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 26589695
GRCz11 20 26488785
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGTCCGTGCCAGCATCGGCGCAGGCTTTATCTACCCTTTAGTTGGAACAG[T/C]AAGTGATTATTCTCGAAATCTGATGAAAGCTCTCGTCTTGGTCCATTCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa915
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000147154 Nonsense 103 122 4 5

The following transcripts of ENSDARG00000091891 do not overlap with this mutation:

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 20 (position 26510614)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 26581917
GRCz11 20 26481007
KASP Assay ID:
554-0821.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTTCTTTTCTCTTGTCTTTCAGATGAGCACTATGCCAGGCTTGCCTACA[C/T]GACCCTGTTTCTATGACATTGACCTTGATCCTGTGACCGAGGAGATAAAA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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