Incidental Mutation 'IGL01771:Kcnj10'
| ID |
153846 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnj10
|
| Ensembl Gene |
ENSMUSG00000044708 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 10 |
| Synonyms |
Kir4.1, BIRK-1, Kir4.1, Kir1.2, BIR10 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01771
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
172168777-172201652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 172197150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 221
(H221Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056136]
|
| AlphaFold |
Q9JM63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056136
AA Change: H221Q
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000054356
Gene: ENSMUSG00000044708
AA Change: H221Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
31 |
363 |
2.2e-136 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice show increased input resistance and high depolarization of retinal Muller cells, loss of the endocochlear potential, motor coordination deficits and hindlimb paralysis, and a hypomyelination and spongiform vacuolation in the spinalcord associated with severe axonal pathology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Capn10 |
T |
A |
1: 92,868,087 (GRCm39) |
W185R |
probably damaging |
Het |
| Frmd8 |
A |
G |
19: 5,919,603 (GRCm39) |
L148P |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,059,488 (GRCm39) |
C447R |
probably damaging |
Het |
| Hip1r |
T |
A |
5: 124,137,606 (GRCm39) |
V704D |
possibly damaging |
Het |
| Klk1b8 |
A |
T |
7: 43,604,290 (GRCm39) |
I253L |
probably damaging |
Het |
| Or10aa4-ps1 |
T |
C |
1: 173,878,887 (GRCm39) |
|
probably benign |
Het |
| Or1ad8 |
A |
G |
11: 50,898,593 (GRCm39) |
T265A |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,490 (GRCm39) |
I221N |
probably damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,134,891 (GRCm39) |
N293S |
probably damaging |
Het |
| Or8k40 |
C |
T |
2: 86,584,626 (GRCm39) |
C152Y |
probably benign |
Het |
| Pdp2 |
A |
T |
8: 105,320,754 (GRCm39) |
Y201F |
probably benign |
Het |
| Ppfia1 |
A |
T |
7: 144,036,094 (GRCm39) |
I1112K |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,353,624 (GRCm39) |
I378T |
probably damaging |
Het |
| Rhbdd1 |
T |
A |
1: 82,355,313 (GRCm39) |
D248E |
probably benign |
Het |
| Sec14l5 |
T |
C |
16: 4,996,494 (GRCm39) |
|
probably null |
Het |
| Sel1l3 |
T |
G |
5: 53,279,183 (GRCm39) |
D960A |
probably damaging |
Het |
| Slc35f3 |
T |
C |
8: 127,115,951 (GRCm39) |
Y293H |
probably benign |
Het |
| Wwc1 |
A |
G |
11: 35,744,185 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
C |
5: 137,391,330 (GRCm39) |
N4718S |
unknown |
Het |
| Zfyve16 |
T |
C |
13: 92,658,680 (GRCm39) |
I410M |
probably benign |
Het |
|
| Other mutations in Kcnj10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02743:Kcnj10
|
APN |
1 |
172,197,221 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0052:Kcnj10
|
UTSW |
1 |
172,196,491 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0490:Kcnj10
|
UTSW |
1 |
172,197,019 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1424:Kcnj10
|
UTSW |
1 |
172,196,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Kcnj10
|
UTSW |
1 |
172,197,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3735:Kcnj10
|
UTSW |
1 |
172,197,533 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3826:Kcnj10
|
UTSW |
1 |
172,197,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Kcnj10
|
UTSW |
1 |
172,196,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4726:Kcnj10
|
UTSW |
1 |
172,196,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4727:Kcnj10
|
UTSW |
1 |
172,197,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5434:Kcnj10
|
UTSW |
1 |
172,197,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5755:Kcnj10
|
UTSW |
1 |
172,197,161 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6146:Kcnj10
|
UTSW |
1 |
172,196,892 (GRCm39) |
nonsense |
probably null |
|
|
R7029:Kcnj10
|
UTSW |
1 |
172,196,563 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7235:Kcnj10
|
UTSW |
1 |
172,196,993 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7350:Kcnj10
|
UTSW |
1 |
172,196,827 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8121:Kcnj10
|
UTSW |
1 |
172,196,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8218:Kcnj10
|
UTSW |
1 |
172,196,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8702:Kcnj10
|
UTSW |
1 |
172,197,127 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8991:Kcnj10
|
UTSW |
1 |
172,196,963 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Kcnj10
|
UTSW |
1 |
172,196,788 (GRCm39) |
missense |
probably benign |
0.14 |
|
Z1177:Kcnj10
|
UTSW |
1 |
172,196,702 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2014-02-04 |
Incidental Mutation