tfip11

Ensembl ID:
ENSDARG00000056932
ZFIN ID:
ZDB-GENE-040718-479
Description:
Tuftelin-interacting protein 11 [Source:UniProtKB/Swiss-Prot;Acc:Q6DI35]
Human Orthologue:
TFIP11
Human Description:
tuftelin interacting protein 11 [Source:HGNC Symbol;Acc:17165]
Mouse Orthologue:
Tfip11
Mouse Description:
tuftelin interacting protein 11 Gene [Source:MGI Symbol;Acc:MGI:1930075]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa17454 Nonsense Available for shipment Available now
sa3219 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa17454
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079506 Nonsense 112 832 3 14
Genomic Location (Zv9):
Chromosome 23 (position 18029367)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 17932306
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGCGGGAGGGTTCAGATGATTCTGATGCTGAAGAGGCACCTCCTCCACCC[C/T]GAGCTGCTGCTCCCAAAAAGCTCCAAACGGTAGATTGAGATGTRTGCAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3219
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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079506 Nonsense 416 832 8 14
Genomic Location (Zv9):
Chromosome 23 (position 18025966)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 17928905
KASP Assay ID:
554-2738.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCTGCAGACTGAGTTCTACCAGGAGTATAAGACTATGGGTTTGGGAGATT[T/A]AGCTGTGTCTGTTGTGCATCCTCTGTTGAAAGAAAAACTTCGCAATTGGG
Associated Phenotype:

This allele has been associated with this phenotype by genetic linkage analysis and may not be causal. See FAQs for more info.

Control on top; Mutant below; 48 hpf

Control on top; Mutant below; 48 hpf

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Stage Entity Quality Tag
Hatching:Long-pec
ZFS:0000033		 central nervous system
ZFA:0000012		 necrotic
PATO:0000647		 abnormal
PATO:0000460
Hatching:Long-pec
ZFS:0000033		 eye
ZFA:0000107		 decreased size
PATO:0000587		 abnormal
PATO:0000460
Hatching:Long-pec
ZFS:0000033		 hindbrain
ZFA:0000029		 hydrocephalic
PATO:0001853		 abnormal
PATO:0000460
Hatching:Long-pec
ZFS:0000033		 inner ear
ZFA:0000217		 decreased size
PATO:0000587		 abnormal
PATO:0000460
Hatching:Long-pec
ZFS:0000033		 post-vent region
ZFA:0001117		 curved dorsal
PATO:0001468		 abnormal
PATO:0000460
mRNA Expression Profiling Preview:
View complete mRNA expression profile
Region 3' end position 3' end strand Adjusted p-value Log2 fold change (mutant/sibling) Closest Ensembl gene 3' end Gene name e74 Ensembl Gene ID
17:15383322-15384300 15383322 -1 5.64 × 10-67 -7.8 -6 col10a1 ENSDARG00000054753
12:2841701-2841913 2841913 1 4.27 × 10-49 6.8 -1 U3 ENSDARG00000089524
20:7032101-7033441 7033441 1 2.44 × 10-47 4.4 -1 igfbp1a ENSDARG00000014947
19:45245318-45245900 45245318 -1 8.35 × 10-38 -7.3 2 matn1 ENSDARG00000030215
11:6106523-6106700 6106523 -1 4.33 × 10-37 4.5 -1 U6 ENSDARG00000082005

OMIM

OMIM information for TFIP11

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