Incidental Mutation 'R5819:Pjvk'
ID 449201
Institutional Source Beutler Lab
Gene Symbol Pjvk
Ensembl Gene ENSMUSG00000075267
Gene Name pejvakin
Synonyms LOC381375, pejvakin, Dfnb59
MMRRC Submission 043399-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R5819 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 76480617-76488898 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76488713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 295 (I295V)
Ref Sequence ENSEMBL: ENSMUSP00000097566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002809] [ENSMUST00000099986] [ENSMUST00000144817]
AlphaFold Q0ZLH2
Predicted Effect probably benign
Transcript: ENSMUST00000002809
SMART Domains Protein: ENSMUSP00000002809
Gene: ENSMUSG00000002732

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000099986
AA Change: I295V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267
AA Change: I295V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154097
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,930,630 (GRCm39) I1376F probably damaging Het
Aggf1 T C 13: 95,488,129 (GRCm39) N673D possibly damaging Het
Avil T C 10: 126,845,867 (GRCm39) F372S probably damaging Het
Bltp1 A T 3: 37,102,749 (GRCm39) M4863L probably benign Het
Bod1l T A 5: 41,989,948 (GRCm39) E258D probably benign Het
Chek1 T A 9: 36,621,701 (GRCm39) H420L probably benign Het
Cyfip1 A G 7: 55,528,899 (GRCm39) I260M probably damaging Het
Dclk1 G A 3: 55,397,285 (GRCm39) V524I probably damaging Het
Efr3b T C 12: 4,042,965 (GRCm39) M102V probably benign Het
Erc2 T A 14: 27,863,326 (GRCm39) I517N probably damaging Het
Fubp1 T C 3: 151,926,190 (GRCm39) I305T probably damaging Het
Galc T A 12: 98,182,520 (GRCm39) D443V probably benign Het
Galnt4 T A 10: 98,945,892 (GRCm39) I539N probably damaging Het
Gm17093 G T 14: 44,758,986 (GRCm39) M169I unknown Het
Htra1 T C 7: 130,583,469 (GRCm39) F363S probably damaging Het
Itprid1 A T 6: 55,874,876 (GRCm39) K275N probably benign Het
Klhdc8b G A 9: 108,328,261 (GRCm39) P64S probably benign Het
Kmt2c A G 5: 25,614,130 (GRCm39) probably null Het
Mettl21c T G 1: 44,048,882 (GRCm39) K222Q probably damaging Het
Mga A C 2: 119,771,744 (GRCm39) M1535L possibly damaging Het
Mov10 C T 3: 104,708,828 (GRCm39) G395D probably damaging Het
Ms4a10 C A 19: 10,946,054 (GRCm39) A26S probably benign Het
Mtcl3 A T 10: 29,073,269 (GRCm39) M854L probably benign Het
Naaladl1 A G 19: 6,159,684 (GRCm39) N372D possibly damaging Het
Optc T C 1: 133,825,617 (GRCm39) D303G probably damaging Het
Or4f52 A T 2: 111,061,304 (GRCm39) I278N probably damaging Het
Osmr C A 15: 6,845,268 (GRCm39) V833L probably benign Het
Phf14 A G 6: 11,997,251 (GRCm39) probably null Het
Plppr4 T A 3: 117,119,513 (GRCm39) I299L possibly damaging Het
Prkg1 A G 19: 31,563,072 (GRCm39) S110P probably benign Het
Ptprq T A 10: 107,555,744 (GRCm39) probably benign Het
Rarb T G 14: 16,443,820 (GRCm38) N156T possibly damaging Het
Rgl3 A T 9: 21,892,898 (GRCm39) probably null Het
Ruvbl1 A C 6: 88,460,097 (GRCm39) probably null Het
S1pr1 G T 3: 115,505,789 (GRCm39) C268* probably null Het
Sbk3 T C 7: 4,972,996 (GRCm39) D58G probably benign Het
Scgb2b3 T A 7: 31,059,639 (GRCm39) H45L possibly damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Tas2r119 T C 15: 32,177,452 (GRCm39) L6P probably damaging Het
Tcp11 A T 17: 28,288,210 (GRCm39) F339L probably damaging Het
Tdpoz8 A G 3: 92,981,039 (GRCm39) Y19C probably damaging Het
Tmprss5 T A 9: 49,025,779 (GRCm39) probably null Het
Trnau1ap A G 4: 132,052,521 (GRCm39) probably benign Het
Trp53bp1 G A 2: 121,038,873 (GRCm39) R1397* probably null Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Vmn2r13 T A 5: 109,321,966 (GRCm39) M244L possibly damaging Het
Zfp777 C T 6: 48,014,522 (GRCm39) E395K probably damaging Het
Zfyve27 A G 19: 42,171,935 (GRCm39) S156G probably benign Het
Other mutations in Pjvk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01797:Pjvk APN 2 76,487,883 (GRCm39) unclassified probably benign
IGL01805:Pjvk APN 2 76,487,858 (GRCm39) missense probably benign 0.11
IGL01821:Pjvk APN 2 76,486,259 (GRCm39) missense probably damaging 0.96
IGL02850:Pjvk APN 2 76,488,795 (GRCm39) missense possibly damaging 0.85
R1757:Pjvk UTSW 2 76,486,232 (GRCm39) missense probably benign
R1851:Pjvk UTSW 2 76,487,775 (GRCm39) critical splice acceptor site probably null
R2152:Pjvk UTSW 2 76,488,713 (GRCm39) missense probably benign 0.10
R2265:Pjvk UTSW 2 76,487,797 (GRCm39) missense possibly damaging 0.84
R4439:Pjvk UTSW 2 76,481,750 (GRCm39) missense probably damaging 1.00
R5207:Pjvk UTSW 2 76,480,734 (GRCm39) critical splice acceptor site probably null
R5381:Pjvk UTSW 2 76,481,904 (GRCm39) splice site probably null
R6165:Pjvk UTSW 2 76,480,562 (GRCm39) splice site probably null
R7148:Pjvk UTSW 2 76,488,831 (GRCm39) missense possibly damaging 0.86
R7559:Pjvk UTSW 2 76,486,154 (GRCm39) missense probably benign 0.07
R7573:Pjvk UTSW 2 76,487,809 (GRCm39) missense probably benign 0.03
R7772:Pjvk UTSW 2 76,487,877 (GRCm39) critical splice donor site probably null
R8475:Pjvk UTSW 2 76,480,901 (GRCm39) missense probably benign
R9665:Pjvk UTSW 2 76,487,827 (GRCm39) missense probably benign
X0026:Pjvk UTSW 2 76,480,878 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AAGCCCAGTTGTTTCCTGAC -3'
(R):5'- GCGCACAAAGCATATTCCTTC -3'

Sequencing Primer
(F):5'- CACCTATATAAACAGTTTGGGGTGC -3'
(R):5'- TCCTTTTATTTCATTCTCTTGTGCC -3'
Posted On 2016-12-20