Incidental Mutation 'IGL01797:Pjvk'
ID155412
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
Status
Chromosome2
Chromosomal Location76648476-76658556 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 76657539 bp
ZygosityHeterozygous
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

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

DomainStartEndE-ValueType
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