Incidental Mutation 'IGL01821:Pjvk'
| ID |
154559 |
| 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 # |
IGL01821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
76480617-76488898 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 76486259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 220
(G220C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099986]
[ENSMUST00000144817]
[ENSMUST00000153471]
|
| AlphaFold |
Q0ZLH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099986
AA Change: G220C
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267
AA Change: G220C
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153471
|
| SMART Domains |
Protein: ENSMUSP00000114409
Gene: ENSMUSG00000075267
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
68 |
3.1e-18 |
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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,917,142 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,482 (GRCm39) |
I3589V |
probably benign |
Het |
| Arhgdia |
A |
T |
11: 120,471,031 (GRCm39) |
L56Q |
probably damaging |
Het |
| Camk2b |
C |
T |
11: 5,947,890 (GRCm39) |
D112N |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,771,699 (GRCm39) |
V664A |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,892,369 (GRCm39) |
D119G |
possibly damaging |
Het |
| Hic2 |
T |
C |
16: 17,075,695 (GRCm39) |
F175L |
probably benign |
Het |
| Ifi214 |
T |
C |
1: 173,356,891 (GRCm39) |
I71V |
probably damaging |
Het |
| Igkv17-121 |
G |
A |
6: 68,013,848 (GRCm39) |
C16Y |
unknown |
Het |
| Inpp4a |
T |
C |
1: 37,416,798 (GRCm39) |
S435P |
probably damaging |
Het |
| Irgm1 |
A |
G |
11: 48,757,353 (GRCm39) |
S153P |
probably damaging |
Het |
| Lactb |
A |
T |
9: 66,878,180 (GRCm39) |
S216R |
probably damaging |
Het |
| Nol7 |
A |
G |
13: 43,552,216 (GRCm39) |
K87R |
probably benign |
Het |
| Or9m2 |
T |
A |
2: 87,820,933 (GRCm39) |
H159Q |
probably benign |
Het |
| Patj |
G |
T |
4: 98,344,448 (GRCm39) |
G18W |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,819,219 (GRCm39) |
Y1071H |
probably damaging |
Het |
| Psmb8 |
C |
A |
17: 34,417,517 (GRCm39) |
Q49K |
probably benign |
Het |
| Rhcg |
C |
A |
7: 79,248,346 (GRCm39) |
L419F |
probably benign |
Het |
| Slc6a5 |
A |
G |
7: 49,564,601 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,111,003 (GRCm39) |
D607G |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,914,710 (GRCm39) |
L2275F |
probably damaging |
Het |
| Thoc1 |
A |
G |
18: 9,993,429 (GRCm39) |
D596G |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,341,835 (GRCm39) |
F205L |
probably damaging |
Het |
| Traf7 |
G |
A |
17: 24,729,473 (GRCm39) |
S446F |
probably damaging |
Het |
| Trnt1 |
G |
A |
6: 106,751,436 (GRCm39) |
V138I |
probably damaging |
Het |
| Tsnaxip1 |
A |
T |
8: 106,564,148 (GRCm39) |
Q116L |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,534,520 (GRCm39) |
S480P |
probably damaging |
Het |
|
| Other mutations in Pjvk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
Incidental Mutation