Incidental Mutation 'R1680:Kcnj8'
ID 188413
Institutional Source Beutler Lab
Gene Symbol Kcnj8
Ensembl Gene ENSMUSG00000030247
Gene Name potassium inwardly-rectifying channel, subfamily J, member 8
Synonyms Kir6.1, sltr, gnite, slmbr
MMRRC Submission 039716-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1680 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 142564837-142571614 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 142570189 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 64 (L64*)
Ref Sequence ENSEMBL: ENSMUSP00000145440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032374] [ENSMUST00000203945]
AlphaFold P97794
Predicted Effect probably null
Transcript: ENSMUST00000032374
AA Change: L64*
SMART Domains Protein: ENSMUSP00000032374
Gene: ENSMUSG00000030247
AA Change: L64*

Pfam:IRK 37 371 2.3e-141 PFAM
low complexity region 378 404 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000203945
AA Change: L64*
SMART Domains Protein: ENSMUSP00000145440
Gene: ENSMUSG00000030247
AA Change: L64*

Pfam:IRK 37 371 2.3e-141 PFAM
low complexity region 378 404 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit sudden cardiac death due to dysregulation of the vascular tonus in the coronary arteries, and exhibit a phenotype resembling Prinzmetal (or variant) angina in humans. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C G 10: 100,603,528 (GRCm38) P187R probably damaging Het
Ahnak T A 19: 9,009,963 (GRCm38) H2870Q probably benign Het
Arhgef33 C T 17: 80,347,651 (GRCm38) S95F probably damaging Het
Atp1a2 T A 1: 172,278,954 (GRCm38) D827V probably damaging Het
Bcat1 T G 6: 145,039,628 (GRCm38) D96A probably damaging Het
Birc6 A T 17: 74,548,746 (GRCm38) I184L probably benign Het
Ccdc129 C T 6: 55,968,766 (GRCm38) T824I probably damaging Het
Clca3b A T 3: 144,837,824 (GRCm38) L415M probably damaging Het
Clstn1 T C 4: 149,643,726 (GRCm38) V617A probably benign Het
Col22a1 G A 15: 71,799,361 (GRCm38) A1050V unknown Het
Col5a3 C T 9: 20,784,668 (GRCm38) probably null Het
Csmd3 G A 15: 47,741,170 (GRCm38) T1059I probably damaging Het
Dclk2 C T 3: 86,805,639 (GRCm38) R503Q possibly damaging Het
Dnm3 A G 1: 162,010,976 (GRCm38) V272A probably benign Het
Dnmt3a A G 12: 3,873,361 (GRCm38) Q187R probably damaging Het
Dpp9 A G 17: 56,190,103 (GRCm38) Y710H probably benign Het
Eef1a2 A T 2: 181,152,941 (GRCm38) M155K possibly damaging Het
Entpd8 G A 2: 25,084,024 (GRCm38) C331Y probably damaging Het
Erc1 A C 6: 119,575,761 (GRCm38) L1072R probably damaging Het
Fam160b2 T C 14: 70,586,851 (GRCm38) Y482C probably damaging Het
Gtf3c2 A G 5: 31,173,868 (GRCm38) S155P probably damaging Het
Gucy2c A G 6: 136,722,493 (GRCm38) S617P probably damaging Het
Ice1 T C 13: 70,605,448 (GRCm38) R840G probably benign Het
Il1rl2 T C 1: 40,351,793 (GRCm38) Y299H possibly damaging Het
Ints7 T G 1: 191,621,162 (GRCm38) probably null Het
Ireb2 C T 9: 54,881,518 (GRCm38) T92I probably damaging Het
Mapk8ip3 A G 17: 24,901,011 (GRCm38) V983A probably damaging Het
Mertk A G 2: 128,801,636 (GRCm38) D985G probably benign Het
Mical3 A T 6: 120,959,643 (GRCm38) S1307R probably benign Het
Ncaph2 A G 15: 89,364,622 (GRCm38) D222G probably benign Het
Nf1 C A 11: 79,550,998 (GRCm38) S295* probably null Het
Nlrp12 T A 7: 3,241,174 (GRCm38) D236V probably damaging Het
Npnt A G 3: 132,906,802 (GRCm38) V74A probably benign Het
Oasl1 A G 5: 114,935,944 (GRCm38) D304G probably damaging Het
Olfr1098 C T 2: 86,923,161 (GRCm38) V124I probably benign Het
Olfr556 A G 7: 102,670,733 (GRCm38) D271G possibly damaging Het
Olfr834 A G 9: 18,988,516 (GRCm38) H176R possibly damaging Het
Olfr936 T C 9: 39,047,000 (GRCm38) I140V probably benign Het
Patz1 A G 11: 3,307,812 (GRCm38) K604E probably damaging Het
Pcsk6 T A 7: 66,035,250 (GRCm38) V793E probably benign Het
Pla2g4d C T 2: 120,277,750 (GRCm38) probably null Het
Plxnc1 A C 10: 94,841,551 (GRCm38) L938R probably benign Het
Pou4f2 G T 8: 78,434,831 (GRCm38) A381D probably damaging Het
Prdm4 A G 10: 85,899,223 (GRCm38) L685P possibly damaging Het
Pxn T A 5: 115,552,147 (GRCm38) V383E probably damaging Het
Rbl1 A G 2: 157,174,783 (GRCm38) L632P probably damaging Het
Rnf135 T A 11: 80,196,881 (GRCm38) S219T possibly damaging Het
Sdk2 T C 11: 113,791,436 (GRCm38) D2039G possibly damaging Het
Sdk2 C T 11: 113,838,646 (GRCm38) silent Het
Slc5a6 A G 5: 31,042,644 (GRCm38) Y131H probably damaging Het
Slc9a1 T C 4: 133,418,080 (GRCm38) I492T probably damaging Het
Soga3 A T 10: 29,196,839 (GRCm38) Q709L probably damaging Het
Spag5 A G 11: 78,320,616 (GRCm38) K993E probably damaging Het
Sptbn1 T G 11: 30,159,371 (GRCm38) I75L possibly damaging Het
Syngap1 T C 17: 26,952,579 (GRCm38) S46P possibly damaging Het
Tfcp2l1 T A 1: 118,675,605 (GRCm38) F458I probably damaging Het
Tmem67 A G 4: 12,087,840 (GRCm38) V102A probably benign Het
Tomm70a T C 16: 57,121,961 (GRCm38) S34P unknown Het
Txlnb G T 10: 17,843,233 (GRCm38) G604V probably benign Het
Ube2q1 A G 3: 89,776,176 (GRCm38) T143A probably benign Het
Unc80 C T 1: 66,503,669 (GRCm38) R361* probably null Het
Vcan T C 13: 89,703,547 (GRCm38) D1098G probably benign Het
Vmn1r176 T A 7: 23,835,381 (GRCm38) T116S probably damaging Het
Wdr81 C T 11: 75,454,423 (GRCm38) R6K probably benign Het
Zan T A 5: 137,403,050 (GRCm38) T4136S unknown Het
Zbtb14 C A 17: 69,388,502 (GRCm38) F398L probably damaging Het
Zfp606 A T 7: 12,493,971 (GRCm38) H615L probably damaging Het
Zp3r A T 1: 130,582,880 (GRCm38) N433K probably benign Het
Other mutations in Kcnj8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Kcnj8 APN 6 142,570,235 (GRCm38) missense probably damaging 1.00
IGL02303:Kcnj8 APN 6 142,570,111 (GRCm38) missense probably benign 0.01
IGL03026:Kcnj8 APN 6 142,566,473 (GRCm38) critical splice acceptor site probably null
goodnight UTSW 6 0 () large deletion
mayday UTSW 6 0 () large deletion
slumber UTSW 6 0 () large deletion
solitaire UTSW 6 0 () large deletion
sos UTSW 6 142,565,927 (GRCm38) missense probably damaging 1.00
R0278:Kcnj8 UTSW 6 142,570,348 (GRCm38) missense probably benign 0.12
R0927:Kcnj8 UTSW 6 142,565,901 (GRCm38) missense possibly damaging 0.82
R1864:Kcnj8 UTSW 6 142,570,240 (GRCm38) missense probably damaging 1.00
R1865:Kcnj8 UTSW 6 142,570,240 (GRCm38) missense probably damaging 1.00
R2087:Kcnj8 UTSW 6 142,565,696 (GRCm38) missense probably benign 0.02
R4900:Kcnj8 UTSW 6 142,566,495 (GRCm38) missense probably damaging 1.00
R5863:Kcnj8 UTSW 6 142,565,688 (GRCm38) missense probably benign 0.02
R6493:Kcnj8 UTSW 6 142,566,047 (GRCm38) missense probably damaging 1.00
R6598:Kcnj8 UTSW 6 142,570,233 (GRCm38) missense probably damaging 1.00
R7068:Kcnj8 UTSW 6 142,566,239 (GRCm38) missense probably damaging 1.00
R7587:Kcnj8 UTSW 6 142,566,339 (GRCm38) missense probably damaging 1.00
R7698:Kcnj8 UTSW 6 142,565,753 (GRCm38) missense probably damaging 1.00
R7908:Kcnj8 UTSW 6 142,566,029 (GRCm38) missense probably benign 0.44
R9199:Kcnj8 UTSW 6 142,566,392 (GRCm38) missense probably damaging 1.00
R9757:Kcnj8 UTSW 6 142,570,079 (GRCm38) missense probably benign 0.00
X0018:Kcnj8 UTSW 6 142,565,914 (GRCm38) missense probably benign 0.17
X0020:Kcnj8 UTSW 6 142,565,914 (GRCm38) missense probably benign 0.17
X0026:Kcnj8 UTSW 6 142,565,914 (GRCm38) missense probably benign 0.17
X0027:Kcnj8 UTSW 6 142,565,914 (GRCm38) missense probably benign 0.17
X0061:Kcnj8 UTSW 6 142,570,120 (GRCm38) missense probably damaging 1.00
X0065:Kcnj8 UTSW 6 142,565,914 (GRCm38) missense probably benign 0.17
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-09