Incidental Mutation 'IGL01797:Pjvk'
ID |
155412 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pjvk
|
Ensembl Gene |
ENSMUSG00000075267 |
Gene Name |
pejvakin |
Synonyms |
LOC381375, pejvakin, Dfnb59 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
IGL01797
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
76480617-76488898 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 76487883 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119264
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099986]
[ENSMUST00000144817]
|
AlphaFold |
Q0ZLH2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099986
|
SMART Domains |
Protein: ENSMUSP00000097566 Gene: ENSMUSG00000075267
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
278 |
7.9e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144817
|
SMART Domains |
Protein: ENSMUSP00000119264 Gene: ENSMUSG00000075267
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,113,760 (GRCm39) |
V877A |
probably benign |
Het |
Clcn2 |
T |
C |
16: 20,531,511 (GRCm39) |
I178V |
probably damaging |
Het |
Cnbp |
A |
G |
6: 87,822,542 (GRCm39) |
|
probably benign |
Het |
Coq8a |
A |
T |
1: 179,997,284 (GRCm39) |
|
probably null |
Het |
Dctn2 |
A |
G |
10: 127,113,182 (GRCm39) |
D244G |
possibly damaging |
Het |
Dync1h1 |
T |
A |
12: 110,618,630 (GRCm39) |
|
probably null |
Het |
Efcab15 |
T |
C |
11: 103,089,794 (GRCm39) |
Y381C |
probably damaging |
Het |
Faiml |
T |
C |
9: 99,116,442 (GRCm39) |
K83E |
probably damaging |
Het |
Fdx1 |
A |
T |
9: 51,854,925 (GRCm39) |
C159* |
probably null |
Het |
Fgd3 |
A |
T |
13: 49,443,065 (GRCm39) |
V169E |
probably damaging |
Het |
Ice1 |
G |
T |
13: 70,772,065 (GRCm39) |
T51K |
probably damaging |
Het |
Iqca1 |
A |
C |
1: 90,072,541 (GRCm39) |
|
probably null |
Het |
Jup |
C |
A |
11: 100,272,498 (GRCm39) |
|
probably benign |
Het |
Krt84 |
A |
G |
15: 101,436,915 (GRCm39) |
V373A |
possibly damaging |
Het |
Ndst4 |
T |
A |
3: 125,476,802 (GRCm39) |
M9K |
probably damaging |
Het |
Nomo1 |
T |
C |
7: 45,706,086 (GRCm39) |
V480A |
probably damaging |
Het |
Nsun5 |
A |
G |
5: 135,404,225 (GRCm39) |
H344R |
probably damaging |
Het |
Or13a21 |
A |
G |
7: 139,998,931 (GRCm39) |
Y252H |
probably damaging |
Het |
Or1e1f |
A |
T |
11: 73,855,644 (GRCm39) |
D70V |
probably damaging |
Het |
Prkaa1 |
G |
A |
15: 5,198,187 (GRCm39) |
D159N |
probably damaging |
Het |
Sap130 |
T |
A |
18: 31,831,721 (GRCm39) |
I736N |
probably damaging |
Het |
Tlcd1 |
A |
G |
11: 78,071,160 (GRCm39) |
|
probably null |
Het |
Tpp1 |
T |
C |
7: 105,398,459 (GRCm39) |
I286V |
probably benign |
Het |
Ttll5 |
T |
A |
12: 86,003,371 (GRCm39) |
I1069K |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,540,257 (GRCm39) |
E34243A |
possibly damaging |
Het |
Uqcr10 |
A |
C |
11: 4,654,179 (GRCm39) |
I43S |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 187,995,706 (GRCm39) |
M159K |
probably damaging |
Het |
Vmn2r121 |
G |
A |
X: 123,041,048 (GRCm39) |
|
probably benign |
Het |
Vmn2r30 |
T |
A |
7: 7,337,195 (GRCm39) |
D147V |
probably benign |
Het |
Xntrpc |
T |
C |
7: 101,739,753 (GRCm39) |
I559T |
possibly damaging |
Het |
Zfp268 |
T |
A |
4: 145,347,241 (GRCm39) |
N48K |
probably damaging |
Het |
|
Other mutations in Pjvk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R5819:Pjvk
|
UTSW |
2 |
76,488,713 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2014-02-04 |