Incidental Mutation 'IGL01797:Pjvk'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pjvk
Ensembl Gene ENSMUSG00000075267
Gene Namepejvakin
Synonymspejvakin, Dfnb59, LOC381375
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL01797
Quality Score
Chromosomal Location76648476-76658556 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 76657539 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099986] [ENSMUST00000144817]
Predicted Effect probably benign
Transcript: ENSMUST00000099986
SMART Domains Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267

Pfam:Gasdermin 1 278 7.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144817
SMART Domains Protein: ENSMUSP00000119264
Gene: ENSMUSG00000075267

Pfam:Gasdermin 1 184 2.2e-34 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a point mutation display increased auditory thresholds. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T C 11: 103,198,968 Y381C probably damaging Het
Abca16 T C 7: 120,514,537 V877A probably benign Het
AC159899.1 T C 9: 99,234,389 K83E probably damaging Het
Clcn2 T C 16: 20,712,761 I178V probably damaging Het
Cnbp A G 6: 87,845,560 probably benign Het
Coq8a A T 1: 180,169,719 probably null Het
Dctn2 A G 10: 127,277,313 D244G possibly damaging Het
Dync1h1 T A 12: 110,652,196 probably null Het
Fdx1 A T 9: 51,943,625 C159* probably null Het
Fgd3 A T 13: 49,289,589 V169E probably damaging Het
Gm13212 T A 4: 145,620,671 N48K probably damaging Het
Ice1 G T 13: 70,623,946 T51K probably damaging Het
Iqca A C 1: 90,144,819 probably null Het
Jup C A 11: 100,381,672 probably benign Het
Krt84 A G 15: 101,528,480 V373A possibly damaging Het
Ndst4 T A 3: 125,683,153 M9K probably damaging Het
Nomo1 T C 7: 46,056,662 V480A probably damaging Het
Nsun5 A G 5: 135,375,371 H344R probably damaging Het
Olfr397 A T 11: 73,964,818 D70V probably damaging Het
Olfr532 A G 7: 140,419,018 Y252H probably damaging Het
Prkaa1 G A 15: 5,168,706 D159N probably damaging Het
Sap130 T A 18: 31,698,668 I736N probably damaging Het
Tlcd1 A G 11: 78,180,334 probably null Het
Tpp1 T C 7: 105,749,252 I286V probably benign Het
Ttll5 T A 12: 85,956,597 I1069K possibly damaging Het
Ttn T G 2: 76,709,913 E34243A possibly damaging Het
Uqcr10 A C 11: 4,704,179 I43S possibly damaging Het
Ush2a T A 1: 188,263,509 M159K probably damaging Het
Vmn2r121 G A X: 124,131,351 probably benign Het
Vmn2r30 T A 7: 7,334,196 D147V probably benign Het
Xntrpc T C 7: 102,090,546 I559T possibly damaging Het
Other mutations in Pjvk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01805:Pjvk APN 2 76657514 missense probably benign 0.11
IGL01821:Pjvk APN 2 76655915 missense probably damaging 0.96
IGL02850:Pjvk APN 2 76658451 missense possibly damaging 0.85
R1757:Pjvk UTSW 2 76655888 missense probably benign
R1851:Pjvk UTSW 2 76657431 critical splice acceptor site probably null
R2152:Pjvk UTSW 2 76658369 missense probably benign 0.10
R2265:Pjvk UTSW 2 76657453 missense possibly damaging 0.84
R4439:Pjvk UTSW 2 76651406 missense probably damaging 1.00
R5207:Pjvk UTSW 2 76650390 critical splice acceptor site probably null
R5381:Pjvk UTSW 2 76651560 unclassified probably null
R5819:Pjvk UTSW 2 76658369 missense probably benign
R6165:Pjvk UTSW 2 76650218 intron probably null
R7148:Pjvk UTSW 2 76658487 missense possibly damaging 0.86
R7559:Pjvk UTSW 2 76655810 missense probably benign 0.07
R7573:Pjvk UTSW 2 76657465 missense probably benign 0.03
X0026:Pjvk UTSW 2 76650534 missense possibly damaging 0.92
Posted On2014-02-04