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) question?
Stock # IGL01771
Quality Score
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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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