Incidental Mutation 'IGL02850: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: 0.144) question?
Stock #IGL02850
Quality Score
Chromosomal Location76648476-76658556 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 76658451 bp
Amino Acid Change Valine to Alanine at position 322 (V322A)
Ref Sequence ENSEMBL: ENSMUSP00000097566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002809] [ENSMUST00000099986] [ENSMUST00000144817]
Predicted Effect probably benign
Transcript: ENSMUST00000002809
SMART Domains Protein: ENSMUSP00000002809
Gene: ENSMUSG00000002732

signal peptide 1 19 N/A INTRINSIC
Pfam:FKBP_C 42 138 7e-31 PFAM
EFh 145 173 1.83e1 SMART
EFh 189 217 5.38e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000099986
AA Change: V322A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267
AA Change: V322A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154097
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 A G 5: 129,115,055 D63G probably damaging Het
Ahnak A G 19: 9,002,596 T415A probably benign Het
Antxr2 A G 5: 98,004,078 V178A probably damaging Het
Ap1s1 A G 5: 137,041,780 Y127H possibly damaging Het
Bbs2 A T 8: 94,077,082 M510K probably benign Het
C130079G13Rik A G 3: 59,936,572 Y229C probably damaging Het
Cbfa2t2 A G 2: 154,535,170 N591S probably damaging Het
Chd6 T A 2: 161,019,616 R504* probably null Het
Cnpy3 A G 17: 46,743,291 probably benign Het
Cntn2 T G 1: 132,518,376 K824T probably benign Het
Cntnap3 T C 13: 64,757,409 T853A probably damaging Het
Cog4 G A 8: 110,866,589 G444D possibly damaging Het
Col18a1 A T 10: 77,096,466 I510N probably damaging Het
Cxcr5 G A 9: 44,514,106 R85W probably damaging Het
Cyth3 C A 5: 143,686,504 T58K probably damaging Het
Dio3 T C 12: 110,279,536 V102A probably damaging Het
Dmbx1 G A 4: 115,918,007 R359C probably damaging Het
Fras1 C A 5: 96,778,175 P3746Q probably damaging Het
Glt1d1 T A 5: 127,644,345 M32K probably benign Het
Hunk A G 16: 90,432,572 N31S probably damaging Het
Ints11 T C 4: 155,875,304 S123P probably benign Het
Izumo2 T C 7: 44,708,915 L58S probably damaging Het
Izumo4 A G 10: 80,704,198 probably benign Het
Kcnh7 T A 2: 62,787,685 K487* probably null Het
Lrp12 T C 15: 39,878,575 Y248C probably damaging Het
Map3k4 T C 17: 12,271,914 D210G probably damaging Het
Mast4 T C 13: 102,754,232 D1038G probably damaging Het
Noa1 T C 5: 77,294,491 T651A probably benign Het
Nop2 A C 6: 125,144,085 K610T possibly damaging Het
Nop2 G T 6: 125,144,070 G605V probably benign Het
Npvf G A 6: 50,652,690 R107W probably benign Het
Oit1 C T 14: 8,361,475 probably null Het
Olfr286 A G 15: 98,227,351 V98A probably benign Het
Olfr92 T C 17: 37,111,973 N3S probably benign Het
Oxr1 A G 15: 41,854,933 T775A probably damaging Het
P2ry13 C T 3: 59,209,608 A250T probably damaging Het
Pcsk9 A T 4: 106,458,865 V127E probably damaging Het
Piezo2 G A 18: 63,020,633 S2547F probably benign Het
Pinx1 A G 14: 63,919,160 T179A probably damaging Het
Pla2r1 T A 2: 60,502,069 R476S probably benign Het
Polb A G 8: 22,648,261 probably benign Het
Polg2 C T 11: 106,768,467 D407N probably damaging Het
Pou5f2 G A 13: 78,025,059 R40Q probably benign Het
Sctr T A 1: 120,022,179 C33S probably damaging Het
Sctr T C 1: 120,044,663 M193T possibly damaging Het
Sema5b T C 16: 35,660,515 S819P probably benign Het
Setd1b C T 5: 123,148,589 T566I unknown Het
Sptbn4 G A 7: 27,426,833 R222C possibly damaging Het
Taf5l A G 8: 124,003,458 V129A possibly damaging Het
Tmem163 C T 1: 127,500,247 V201I probably benign Het
Tmem57 T C 4: 134,828,386 K259E probably benign Het
Ube3b T C 5: 114,406,249 L569P probably damaging Het
Vwa3a A G 7: 120,773,292 E301G probably benign Het
Wnk1 T C 6: 119,937,862 I1660V probably benign Het
Zbtb22 T A 17: 33,917,013 L44Q probably damaging Het
Zfp691 T C 4: 119,170,192 D281G probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign Het
Other mutations in Pjvk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01797:Pjvk APN 2 76657539 unclassified probably benign
IGL01805:Pjvk APN 2 76657514 missense probably benign 0.11
IGL01821:Pjvk APN 2 76655915 missense probably damaging 0.96
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 splice site probably null
R5819:Pjvk UTSW 2 76658369 missense probably benign
R6165:Pjvk UTSW 2 76650218 splice site 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
R7772:Pjvk UTSW 2 76657533 critical splice donor site probably null
R8475:Pjvk UTSW 2 76650557 missense probably benign
X0026:Pjvk UTSW 2 76650534 missense possibly damaging 0.92
Posted On2015-12-18