Incidental Mutation 'IGL01805:Pjvk'
| ID |
155650 |
| 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 # |
IGL01805
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
76480617-76488898 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76487858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 250
(N250I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099986]
[ENSMUST00000144817]
|
| AlphaFold |
Q0ZLH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099986
AA Change: N250I
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000097566
Gene: ENSMUSG00000075267
AA Change: N250I
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019D03Rik |
T |
C |
1: 52,964,677 (GRCm39) |
D17G |
possibly damaging |
Het |
| Adam28 |
G |
T |
14: 68,879,540 (GRCm39) |
S169R |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,120,672 (GRCm39) |
M855T |
possibly damaging |
Het |
| Apc |
C |
A |
18: 34,451,271 (GRCm39) |
N2688K |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,383,428 (GRCm39) |
|
probably benign |
Het |
| Bpifa6 |
A |
G |
2: 153,826,832 (GRCm39) |
T66A |
probably benign |
Het |
| C1qtnf1 |
T |
A |
11: 118,338,993 (GRCm39) |
L221Q |
probably damaging |
Het |
| Ccdc175 |
T |
A |
12: 72,176,003 (GRCm39) |
|
probably benign |
Het |
| Ccl1 |
C |
A |
11: 82,068,958 (GRCm39) |
M26I |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,860,985 (GRCm39) |
F2123I |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,160,635 (GRCm39) |
|
probably null |
Het |
| Fstl4 |
C |
A |
11: 53,077,184 (GRCm39) |
A647E |
probably damaging |
Het |
| Hmgb4 |
G |
T |
4: 128,154,015 (GRCm39) |
|
probably benign |
Het |
| Hr |
A |
T |
14: 70,802,737 (GRCm39) |
|
probably benign |
Het |
| Ilrun |
C |
T |
17: 27,986,880 (GRCm39) |
|
probably benign |
Het |
| Kcna4 |
G |
T |
2: 107,126,843 (GRCm39) |
V526L |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 13,061,117 (GRCm39) |
Y102C |
probably damaging |
Het |
| Mucl3 |
T |
A |
17: 35,948,535 (GRCm39) |
T355S |
possibly damaging |
Het |
| Mul1 |
C |
T |
4: 138,166,974 (GRCm39) |
P343S |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,023,422 (GRCm39) |
S652G |
probably damaging |
Het |
| Or8g55 |
T |
C |
9: 39,785,075 (GRCm39) |
F168S |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,630,959 (GRCm39) |
I461T |
probably benign |
Het |
| Psen2 |
T |
C |
1: 180,057,403 (GRCm39) |
|
probably null |
Het |
| Ralb |
T |
C |
1: 119,403,725 (GRCm39) |
E81G |
probably benign |
Het |
| Slc15a4 |
T |
C |
5: 127,685,900 (GRCm39) |
T261A |
possibly damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,460,395 (GRCm39) |
V574M |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 146,870,063 (GRCm39) |
I251V |
probably damaging |
Het |
| Zfp974 |
G |
A |
7: 27,611,689 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
Incidental Mutation