Incidental Mutation 'FR4449:Kcng4'
ID 511491
Institutional Source Beutler Lab
Gene Symbol Kcng4
Ensembl Gene ENSMUSG00000045246
Gene Name potassium voltage-gated channel, subfamily G, member 4
Synonyms 4921535I01Rik, KV6.3, KV6.4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # FR4449 ()
Quality Score 221.999
Status Not validated
Chromosome 8
Chromosomal Location 120350593-120362419 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 120360258 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Tyrosine to Stop codon at position 39 (Y39*)
Ref Sequence ENSEMBL: ENSMUSP00000129687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061828] [ENSMUST00000164382]
AlphaFold Q80XM3
Predicted Effect probably null
Transcript: ENSMUST00000061828
AA Change: Y39*
SMART Domains Protein: ENSMUSP00000056552
Gene: ENSMUSG00000045246
AA Change: Y39*

DomainStartEndE-ValueType
BTB 58 168 7.13e-3 SMART
Pfam:Ion_trans 218 462 1.2e-40 PFAM
Pfam:Ion_trans_2 370 457 7e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000164382
AA Change: Y39*
SMART Domains Protein: ENSMUSP00000129687
Gene: ENSMUSG00000045246
AA Change: Y39*

DomainStartEndE-ValueType
BTB 58 168 7.13e-3 SMART
Pfam:Ion_trans 262 451 6.6e-29 PFAM
Pfam:Ion_trans_2 371 457 1.7e-13 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.5%
  • 10x: 98.3%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member functions as a modulatory subunit. The gene has strong expression in brain. Multiple alternatively spliced variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 128 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 GGTATTGCATTTCTTATCT G 5: 4,031,214 (GRCm39) probably benign Homo
Amfr C G 8: 94,731,787 (GRCm39) G30R probably damaging Homo
Anxa7 C T 14: 20,519,479 (GRCm39) G113E probably damaging Homo
Apc AGC AGCCAATAACGC 18: 34,415,058 (GRCm39) probably benign Het
Apc AATAAAGC AATAAAGCCGATAAAGC 18: 34,415,053 (GRCm39) probably benign Het
Apol6 TTT TTTGATT 15: 76,935,643 (GRCm39) probably null Homo
Arid1b CGG CGGTGG 17: 5,045,864 (GRCm39) probably benign Het
B430218F22Rik CGGCG CGGCGATGGCG 13: 118,523,387 (GRCm39) probably benign Homo
Blm CCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCT 7: 80,162,656 (GRCm39) probably benign Het
Brd2 CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA CAAAAAAAAAAAAAAA 17: 34,335,310 (GRCm39) probably benign Het
Btnl10 AAG AAGGAG 11: 58,814,754 (GRCm39) probably benign Homo
Cacna1a ACC ACCCCC 8: 85,365,343 (GRCm39) probably benign Het
Cacna1a ACC ACCGCC 8: 85,365,352 (GRCm39) probably benign Het
Cacna1a ACC ACCCCC 8: 85,365,349 (GRCm39) probably benign Het
Calhm1 TGGC TGGCTGTGGCTGCGGC 19: 47,129,713 (GRCm39) probably benign Het
Ccdc15 C CTTTAT 9: 37,226,454 (GRCm39) probably null Het
Ccdc85c CCG CCGACG 12: 108,240,875 (GRCm39) probably benign Het
Ccnk TTCCCAC T 12: 108,168,766 (GRCm39) probably benign Het
Cdhr2 AGTC AGTCGTC 13: 54,873,737 (GRCm39) probably benign Homo
Cdk15 A ATCTAAAAGG 1: 59,296,982 (GRCm39) probably benign Homo
Cdx1 GCTG GCTGCTCCTG 18: 61,152,953 (GRCm39) probably benign Het
Cfap46 T C 7: 139,218,711 (GRCm39) probably benign Homo
Cgref1 TTC TTCGTC 5: 31,091,120 (GRCm39) probably benign Het
Cgref1 CTT CTTATT 5: 31,091,122 (GRCm39) probably null Homo
Cluh G GACTGAA 11: 74,560,358 (GRCm39) probably benign Het
Cntnap1 AGCCCC AGCCCCCGCCCC 11: 101,080,395 (GRCm39) probably benign Het
Cntnap1 AGCC AGCCCCCGCC 11: 101,080,419 (GRCm39) probably benign Het
Cpne1 CCTACT CCT 2: 155,915,422 (GRCm39) probably benign Homo
Cracdl T A 1: 37,664,116 (GRCm39) E594V probably benign Homo
Cracdl C A 1: 37,664,117 (GRCm39) E594* probably null Homo
Cttnbp2 CTGCTG CTGCTGTTGCTG 6: 18,367,461 (GRCm39) probably benign Het
Cul9 TCC TCCGCC 17: 46,811,782 (GRCm39) probably benign Het
Dbr1 AGGAGG AGGAGGCGGAGG 9: 99,465,739 (GRCm39) probably benign Het
Dbr1 GGAGGA GGAGGAAGAGGA 9: 99,465,749 (GRCm39) probably benign Het
Dbr1 AGGAGG AGGAGGGGGAGG 9: 99,465,727 (GRCm39) probably benign Het
Dhx8 CG CGAGACAG 11: 101,629,020 (GRCm39) probably benign Homo
Dhx8 CG CGAGACAG 11: 101,629,032 (GRCm39) probably benign Het
Dhx8 G GAGACCC 11: 101,629,033 (GRCm39) probably benign Het
Dhx8 AGACCG AGACCGTGACCG 11: 101,629,010 (GRCm39) probably benign Homo
Dhx8 AGACCGGGACCGGGACCGGGACCGGGAC AGACCGGGACCGGGAC 11: 101,629,016 (GRCm39) probably benign Het
Dspp CGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG CGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG 5: 104,326,254 (GRCm39) probably benign Het
Dusp10 G T 1: 183,769,253 (GRCm39) C73F probably damaging Homo
Erich3 GA GAGAA 3: 154,469,150 (GRCm39) probably benign Homo
Ermn CTT CTTGTT 2: 57,938,086 (GRCm39) probably benign Het
Fgd6 GGAT G 10: 93,880,182 (GRCm39) probably benign Homo
G530012D18Rik GAGAGAGAGAGAGAGAGACAGAGA GAGAGA 1: 85,504,901 (GRCm39) probably benign Homo
Gar1 GCCGCCTCCGCC GCCGCC 3: 129,624,353 (GRCm39) probably benign Homo
Gatad2b AGAC A 3: 90,249,224 (GRCm39) probably benign Het
Gigyf2 C T 1: 87,356,307 (GRCm39) probably benign Het
Gm16519 A AGAT 17: 71,236,333 (GRCm39) probably benign Homo
Gm4340 AGC AGCGGC 10: 104,031,946 (GRCm39) probably benign Het
Gm4340 GCA GCATCA 10: 104,031,947 (GRCm39) probably benign Het
Gm4340 AGC AGCGGC 10: 104,031,943 (GRCm39) probably benign Het
Gpatch11 AGGAAG AGGAAGCGGAAG 17: 79,149,597 (GRCm39) probably benign Het
Gpatch11 GAAGAG GAAGAGCAAGAG 17: 79,149,605 (GRCm39) probably benign Het
Gpatch11 GG GGCAGACG 17: 79,149,610 (GRCm39) probably benign Het
Hoxa10 T A 6: 52,211,166 (GRCm39) Q250L possibly damaging Homo
Igkv12-89 GCA GCAGCAGCAACA 6: 68,812,264 (GRCm39) probably benign Homo
Igsf10 G A 3: 59,226,531 (GRCm39) R2381C probably damaging Homo
Il17rd GGC GGCAGC 14: 26,804,635 (GRCm39) probably benign Het
Ints5 G A 19: 8,874,594 (GRCm39) R851Q probably benign Het
Isg20l2 AGA AGAGGA 3: 87,839,020 (GRCm39) probably benign Het
Kifc5b A C 17: 27,143,191 (GRCm39) E321A probably benign Het
Klra2 TCCACAG TCCACAGAAACCCACAG 6: 131,198,809 (GRCm39) probably null Homo
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,794 (GRCm39) probably benign Het
Kmt2b CCTCCT CCTCCTGCTCCT 7: 30,285,786 (GRCm39) probably benign Het
Kmt2b TCCTCC TCCTCCACCTCC 7: 30,285,791 (GRCm39) probably benign Het
Krt10 ACC ACCACCTCC 11: 99,280,093 (GRCm39) probably benign Het
Las1l GA GAGAA X: 94,984,438 (GRCm39) probably benign Het
Lce1m AC ACTGCTGCTGCCGC 3: 92,925,459 (GRCm39) probably benign Het
Leo1 GTACCATGCA G 9: 75,357,855 (GRCm39) probably benign Het
Lkaaear1 CA CATCTCCAGCTCTA 2: 181,339,364 (GRCm39) probably benign Het
Maml2 ACAGCAGCAGCAACAGCAGCAGCAGCAGCA ACAGCAACAGCAGCAGCAGCAGCA 9: 13,532,752 (GRCm39) probably benign Homo
Med12l CAG CAGTAG 3: 59,183,384 (GRCm39) probably null Het
Mgat4e GTCGTAGTCATCGT GTCGT 1: 134,468,735 (GRCm39) probably benign Homo
Mn1 GCA GCAACA 5: 111,567,576 (GRCm39) probably benign Het
Morn4 AGGCAGTGAG AGGCAGTGAGTCTGGCAGTGAG 19: 42,064,548 (GRCm39) probably benign Het
Nat8f2 T A 6: 85,844,668 (GRCm39) L231F possibly damaging Homo
Noc2l C CTGA 4: 156,324,558 (GRCm39) probably benign Het
Nrg3 T TAGACAC 14: 38,119,228 (GRCm39) probably benign Het
Or8b41 A G 9: 38,054,484 (GRCm39) I13V probably benign Homo
Piezo1 G A 8: 123,222,308 (GRCm39) R503W probably damaging Homo
Pih1d2 CTCTTGCGAGGATC CTC 9: 50,532,927 (GRCm39) probably null Homo
Pik3ap1 G GGAA 19: 41,270,385 (GRCm39) probably benign Het
Ppp1r3f C A X: 7,426,575 (GRCm39) G562V probably damaging Homo
Ptms TTC TTCGTC 6: 124,891,422 (GRCm39) probably benign Het
Ptpn23 G T 9: 110,216,701 (GRCm39) P1052T probably benign Homo
Qrich2 AACT A 11: 116,347,025 (GRCm39) probably benign Homo
Raet1d A ATATCCTCTCTGG 10: 22,246,814 (GRCm39) probably benign Het
Rbm33 AGCAGCAGCAGCACCAGCCGCAGCAGCAGCA AGCAGCAGCAGCA 5: 28,599,166 (GRCm39) probably benign Homo
Rrbp1 TGCTTCTCAAAGGTGGCTGCCTTGGCTTC TGCTTC 2: 143,809,376 (GRCm39) probably null Het
Sbp CAACAAAGATGCTGA CAACAAAGATGCTGAGAACAAAGATGCTGA 17: 24,164,338 (GRCm39) probably benign Het
Setd1a G A 7: 127,384,498 (GRCm39) probably benign Het
Sfswap CCCACTCAG CCCACTCAGTCCACTCAG 5: 129,646,812 (GRCm39) probably benign Het
Sfswap CCACTCAGC CCACTCAGCTCACTCAGC 5: 129,646,813 (GRCm39) probably benign Het
Sh3pxd2b T TGTCTGC 11: 32,373,065 (GRCm39) probably benign Homo
Six3 CGG CGGGGG 17: 85,928,790 (GRCm39) probably benign Het
Slc12a1 C CTTTGGCCACAACACG 2: 124,996,136 (GRCm39) probably benign Homo
Slc26a8 CTCTCTG C 17: 28,857,290 (GRCm39) probably benign Het
Spata31h1 TTCAGT TT 10: 82,121,303 (GRCm39) probably null Homo
Srebf2 G T 15: 82,069,536 (GRCm39) A693S probably damaging Homo
Sry ACTG ACTGCTG Y: 2,662,818 (GRCm39) probably benign Het
Sry TGCTG TGCTGCTG Y: 2,662,832 (GRCm39) probably benign Homo
Ston1 G A 17: 88,942,953 (GRCm39) V120M probably benign Homo
Supt20 CAGCAG CAGCAGGAGCAG 3: 54,635,070 (GRCm39) probably benign Het
Tbl3 TG TGTGG 17: 24,921,518 (GRCm39) probably benign Homo
Tctn3 AG AGAAGCCG 19: 40,595,646 (GRCm39) probably benign Het
Tesk1 CCC CCCACC 4: 43,447,002 (GRCm39) probably benign Homo
Tmc2 T G 2: 130,082,116 (GRCm39) V433G probably damaging Het
Tmprss13 G A 9: 45,239,856 (GRCm39) A55T unknown Het
Tnfaip8 ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC AC 18: 50,179,906 (GRCm39) probably null Homo
Tob1 CAG CAGAAG 11: 94,105,294 (GRCm39) probably benign Het
Tob1 AGC AGCCGC 11: 94,105,301 (GRCm39) probably benign Het
Tpsab1 TTGCACCTCCT TT 17: 25,562,756 (GRCm39) probably benign Homo
Triobp GTC GTCTTC 15: 78,877,589 (GRCm39) probably benign Het
Ubtf CCT CCTACT 11: 102,197,774 (GRCm39) probably null Het
Vps13b G T 15: 35,847,103 (GRCm39) A2629S probably damaging Homo
Xpnpep3 G C 15: 81,311,623 (GRCm39) D110H possibly damaging Het
Zc3h13 CGAGATGTG CGAGATGTGTGAGATGTG 14: 75,561,041 (GRCm39) probably null Homo
Zfhx3 GCAACAGCA GCAACAGCAACAACAGCA 8: 109,682,726 (GRCm39) probably benign Homo
Zfp26 C A 9: 20,349,842 (GRCm39) A241S probably benign Homo
Zfp335 CTC CTCATC 2: 164,749,397 (GRCm39) probably benign Het
Zfp335 CTCT CTCTTCT 2: 164,749,403 (GRCm39) probably benign Het
Zfp598 ACCACC ACCACCTCCACC 17: 24,899,750 (GRCm39) probably benign Het
Zfp598 ACCACC ACCACCCCCACC 17: 24,899,759 (GRCm39) probably benign Het
Zfp831 TCC TCCACC 2: 174,487,264 (GRCm39) probably benign Het
Zfp831 CTC CTCGTC 2: 174,487,275 (GRCm39) probably benign Het
Zfp978 G T 4: 147,475,401 (GRCm39) S316I probably benign Het
Other mutations in Kcng4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Kcng4 APN 8 120,353,070 (GRCm39) missense probably benign 0.00
IGL01360:Kcng4 APN 8 120,352,416 (GRCm39) missense probably benign 0.40
IGL02094:Kcng4 APN 8 120,359,960 (GRCm39) missense probably damaging 0.98
IGL02205:Kcng4 APN 8 120,352,822 (GRCm39) missense probably damaging 0.99
IGL02892:Kcng4 APN 8 120,359,821 (GRCm39) missense probably benign
IGL02927:Kcng4 APN 8 120,353,061 (GRCm39) missense probably benign
IGL02954:Kcng4 APN 8 120,359,792 (GRCm39) missense probably benign
IGL03143:Kcng4 APN 8 120,352,509 (GRCm39) missense probably damaging 1.00
FR4548:Kcng4 UTSW 8 120,360,258 (GRCm39) nonsense probably null
FR4737:Kcng4 UTSW 8 120,360,258 (GRCm39) nonsense probably null
FR4976:Kcng4 UTSW 8 120,360,258 (GRCm39) nonsense probably null
LCD18:Kcng4 UTSW 8 120,360,258 (GRCm39) nonsense probably null
R0017:Kcng4 UTSW 8 120,360,259 (GRCm39) missense probably damaging 1.00
R1777:Kcng4 UTSW 8 120,360,226 (GRCm39) missense probably benign 0.02
R1852:Kcng4 UTSW 8 120,352,947 (GRCm39) missense probably benign 0.01
R1967:Kcng4 UTSW 8 120,359,662 (GRCm39) missense probably damaging 1.00
R3886:Kcng4 UTSW 8 120,359,986 (GRCm39) missense probably benign 0.34
R4009:Kcng4 UTSW 8 120,352,824 (GRCm39) missense probably damaging 1.00
R5137:Kcng4 UTSW 8 120,352,617 (GRCm39) missense possibly damaging 0.88
R5792:Kcng4 UTSW 8 120,353,018 (GRCm39) missense probably damaging 1.00
R5987:Kcng4 UTSW 8 120,353,098 (GRCm39) missense probably damaging 1.00
R6339:Kcng4 UTSW 8 120,359,693 (GRCm39) missense probably damaging 1.00
R6379:Kcng4 UTSW 8 120,360,359 (GRCm39) nonsense probably null
R6430:Kcng4 UTSW 8 120,359,789 (GRCm39) missense probably damaging 0.96
R7847:Kcng4 UTSW 8 120,352,881 (GRCm39) missense probably damaging 1.00
R8784:Kcng4 UTSW 8 120,352,970 (GRCm39) missense probably benign 0.18
R8947:Kcng4 UTSW 8 120,352,452 (GRCm39) missense possibly damaging 0.78
R9517:Kcng4 UTSW 8 120,353,070 (GRCm39) missense probably benign 0.00
X0024:Kcng4 UTSW 8 120,360,106 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGTCGAAGAAGAACTCCTG -3'
(R):5'- TCTTCCTCTGTTGGCAGACAG -3'

Sequencing Primer
(F):5'- TCGAAGAAGAACTCCTGGCTGTC -3'
(R):5'- ACAGGTGAGCCCAGTGATC -3'
Posted On 2018-04-05