Incidental Mutation 'IGL00941:Kcnj1'
ID 28191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj1
Ensembl Gene ENSMUSG00000041248
Gene Name potassium inwardly-rectifying channel, subfamily J, member 1
Synonyms ROMK-2, Kir1.1, ROMK
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL00941
Quality Score
Status
Chromosome 9
Chromosomal Location 32283789-32310493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32307794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 73 (V73I)
Ref Sequence ENSEMBL: ENSMUSP00000131625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047334] [ENSMUST00000172015] [ENSMUST00000213393]
AlphaFold O88335
Predicted Effect probably benign
Transcript: ENSMUST00000047334
AA Change: V53I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000046793
Gene: ENSMUSG00000041248
AA Change: V53I

DomainStartEndE-ValueType
Pfam:IRK 24 361 1.4e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172015
AA Change: V73I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000131625
Gene: ENSMUSG00000041248
AA Change: V73I

DomainStartEndE-ValueType
Pfam:IRK 44 373 7.6e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213393
AA Change: V53I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygotes for a null mutation die before weaning with impaired electrolyte, acid-base, and fluid-volume homeostasis, reduced NaCl absorption in the thick ascending limb, and abnormal tubuloglomerular feedback. A colony of mutants with extended suvival serves as a model for Bartter's syndrome. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A C 17: 24,536,104 (GRCm39) I521S probably damaging Het
Ace A T 11: 105,870,376 (GRCm39) K265I probably benign Het
Acss3 A G 10: 106,889,187 (GRCm39) probably null Het
Aldh3a2 A G 11: 61,153,082 (GRCm39) Y215H probably damaging Het
Clk2 A G 3: 89,082,729 (GRCm39) M393V probably damaging Het
Cyc1 A G 15: 76,229,365 (GRCm39) I242V probably benign Het
Evpl G A 11: 116,118,727 (GRCm39) L657F probably benign Het
Fbxw10 G A 11: 62,764,327 (GRCm39) V675M probably damaging Het
Fgf21 A G 7: 45,264,597 (GRCm39) V45A probably damaging Het
Gm5134 T C 10: 75,836,255 (GRCm39) I412T possibly damaging Het
Gnat3 T C 5: 18,208,749 (GRCm39) probably benign Het
Hk3 C T 13: 55,162,239 (GRCm39) probably null Het
Ifna12 A T 4: 88,521,551 (GRCm39) probably benign Het
Ipp A G 4: 116,389,856 (GRCm39) M471V possibly damaging Het
Kin G A 2: 10,085,515 (GRCm39) R25H probably damaging Het
Kin T C 2: 10,085,517 (GRCm39) W26R probably damaging Het
Mical2 T C 7: 111,920,652 (GRCm39) probably benign Het
Mllt1 A T 17: 57,202,086 (GRCm39) S428R probably damaging Het
Ppm1k T A 6: 57,501,740 (GRCm39) H141L probably benign Het
Septin4 G T 11: 87,480,599 (GRCm39) C392F probably damaging Het
Slc26a11 T C 11: 119,270,727 (GRCm39) F550L probably benign Het
Ssb T A 2: 69,701,179 (GRCm39) probably null Het
Stk36 T A 1: 74,663,093 (GRCm39) M588K possibly damaging Het
Ubqln4 G A 3: 88,471,808 (GRCm39) A415T probably benign Het
Zfp839 C A 12: 110,827,382 (GRCm39) S424R probably damaging Het
Zkscan6 G T 11: 65,705,573 (GRCm39) G95W probably damaging Het
Other mutations in Kcnj1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02958:Kcnj1 APN 9 32,307,851 (GRCm39) missense probably damaging 1.00
IGL03285:Kcnj1 APN 9 32,308,157 (GRCm39) missense possibly damaging 0.67
R1179:Kcnj1 UTSW 9 32,308,062 (GRCm39) missense probably damaging 0.96
R1503:Kcnj1 UTSW 9 32,307,788 (GRCm39) missense probably damaging 0.98
R1918:Kcnj1 UTSW 9 32,308,034 (GRCm39) missense probably benign 0.00
R4439:Kcnj1 UTSW 9 32,305,414 (GRCm39) intron probably benign
R4659:Kcnj1 UTSW 9 32,305,444 (GRCm39) missense probably benign
R4661:Kcnj1 UTSW 9 32,307,918 (GRCm39) missense probably benign 0.14
R4917:Kcnj1 UTSW 9 32,308,056 (GRCm39) missense probably damaging 0.99
R4918:Kcnj1 UTSW 9 32,308,056 (GRCm39) missense probably damaging 0.99
R5385:Kcnj1 UTSW 9 32,308,019 (GRCm39) missense probably damaging 1.00
R6017:Kcnj1 UTSW 9 32,305,400 (GRCm39) intron probably benign
R6036:Kcnj1 UTSW 9 32,308,421 (GRCm39) missense probably benign 0.15
R6036:Kcnj1 UTSW 9 32,308,421 (GRCm39) missense probably benign 0.15
R6117:Kcnj1 UTSW 9 32,308,478 (GRCm39) missense probably damaging 1.00
R6245:Kcnj1 UTSW 9 32,308,163 (GRCm39) missense probably damaging 1.00
R6316:Kcnj1 UTSW 9 32,308,632 (GRCm39) missense probably damaging 0.96
R6585:Kcnj1 UTSW 9 32,308,557 (GRCm39) missense probably benign
R6988:Kcnj1 UTSW 9 32,307,881 (GRCm39) missense probably benign 0.17
R7116:Kcnj1 UTSW 9 32,308,277 (GRCm39) missense possibly damaging 0.91
R7393:Kcnj1 UTSW 9 32,308,314 (GRCm39) missense probably damaging 1.00
R7870:Kcnj1 UTSW 9 32,307,881 (GRCm39) missense probably benign 0.17
R8072:Kcnj1 UTSW 9 32,308,593 (GRCm39) missense probably damaging 1.00
R8391:Kcnj1 UTSW 9 32,308,028 (GRCm39) missense probably damaging 1.00
R9264:Kcnj1 UTSW 9 32,307,654 (GRCm39) missense probably benign 0.03
R9418:Kcnj1 UTSW 9 32,308,203 (GRCm39) missense probably damaging 1.00
Z1177:Kcnj1 UTSW 9 32,308,655 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17