Incidental Mutation 'R1574:Kcng1'
ID 202705
Institutional Source Beutler Lab
Gene Symbol Kcng1
Ensembl Gene ENSMUSG00000074575
Gene Name potassium voltage-gated channel, subfamily G, member 1
Synonyms OTTMUSG00000016048
MMRRC Submission 045014-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R1574 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 168102037-168123453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 168110961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 68 (N68Y)
Ref Sequence ENSEMBL: ENSMUSP00000104815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099069] [ENSMUST00000109191] [ENSMUST00000131749]
AlphaFold A2BDX4
Predicted Effect probably damaging
Transcript: ENSMUST00000099069
AA Change: N68Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096668
Gene: ENSMUSG00000074575
AA Change: N68Y

DomainStartEndE-ValueType
BTB 63 172 4.22e-5 SMART
low complexity region 174 197 N/A INTRINSIC
Pfam:Ion_trans 226 470 8.6e-41 PFAM
Pfam:Ion_trans_2 379 465 7.6e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109191
AA Change: N68Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104815
Gene: ENSMUSG00000074575
AA Change: N68Y

DomainStartEndE-ValueType
BTB 63 172 4.22e-5 SMART
low complexity region 174 197 N/A INTRINSIC
Pfam:Ion_trans 270 459 1.9e-31 PFAM
Pfam:Ion_trans_2 379 465 1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131749
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
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 gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T A 5: 81,935,296 (GRCm39) N1276K probably damaging Het
Als2cl A G 9: 110,713,128 (GRCm39) E6G probably damaging Het
Ankrd12 A T 17: 66,293,269 (GRCm39) D721E probably benign Het
Anpep A G 7: 79,488,155 (GRCm39) probably null Het
Apeh A T 9: 107,969,925 (GRCm39) probably null Het
Apob A T 12: 8,040,839 (GRCm39) I655L possibly damaging Het
Atp2b1 T A 10: 98,832,810 (GRCm39) L437Q probably damaging Het
Cacna2d3 T A 14: 29,073,779 (GRCm39) R222S probably damaging Het
Cdc25b T A 2: 131,033,057 (GRCm39) probably benign Het
Cdon A G 9: 35,364,233 (GRCm39) probably benign Het
Cenpf C T 1: 189,384,910 (GRCm39) D2457N probably damaging Het
Cenpo A T 12: 4,265,433 (GRCm39) probably null Het
Ces2b G T 8: 105,562,521 (GRCm39) A284S probably benign Het
Clock T C 5: 76,390,679 (GRCm39) D311G probably damaging Het
Csmd3 T C 15: 47,559,257 (GRCm39) probably null Het
Dbil5 A G 11: 76,109,308 (GRCm39) M71V probably benign Het
Ddhd1 A C 14: 45,833,004 (GRCm39) L864R probably damaging Het
Ddx19a T C 8: 111,719,743 (GRCm39) probably benign Het
Dnah11 A G 12: 118,024,052 (GRCm39) C1900R probably damaging Het
Dnah2 A G 11: 69,405,514 (GRCm39) V666A probably benign Het
Dnah5 T A 15: 28,252,569 (GRCm39) M754K probably benign Het
Dnajc15 A T 14: 78,063,854 (GRCm39) S145T probably benign Het
Drap1 A G 19: 5,474,285 (GRCm39) F25S probably damaging Het
Drgx A G 14: 32,327,281 (GRCm39) probably benign Het
Fam83e G A 7: 45,376,135 (GRCm39) E283K probably damaging Het
Fbxo48 G T 11: 16,903,368 (GRCm39) probably benign Het
Fndc3a A T 14: 72,793,997 (GRCm39) I892N probably damaging Het
Gcn1 A G 5: 115,753,611 (GRCm39) T2321A probably benign Het
Gm1110 G T 9: 26,792,422 (GRCm39) probably benign Het
Gm5499 T C 17: 87,386,423 (GRCm39) noncoding transcript Het
Gmnc G T 16: 26,782,729 (GRCm39) probably benign Het
Greb1l A G 18: 10,554,997 (GRCm39) D1681G possibly damaging Het
Hc G A 2: 34,890,777 (GRCm39) probably benign Het
Hmcn2 A C 2: 31,294,899 (GRCm39) T2563P probably damaging Het
Iqcd A T 5: 120,738,300 (GRCm39) K39N probably damaging Het
Irag2 T G 6: 145,104,356 (GRCm39) probably benign Het
Kank2 A G 9: 21,685,871 (GRCm39) S668P probably damaging Het
Kmt5b T A 19: 3,836,633 (GRCm39) probably null Het
Lama2 T A 10: 27,200,750 (GRCm39) I533F possibly damaging Het
Lcmt1 T A 7: 123,002,131 (GRCm39) I132N probably damaging Het
Mad2l2 G T 4: 148,227,429 (GRCm39) probably benign Het
Mcph1 T C 8: 18,851,428 (GRCm39) I807T probably damaging Het
Mdn1 A G 4: 32,722,315 (GRCm39) I2366V probably benign Het
Moxd1 T C 10: 24,176,217 (GRCm39) W558R probably damaging Het
Myh13 T C 11: 67,253,407 (GRCm39) probably benign Het
Myrf T C 19: 10,202,851 (GRCm39) D141G probably damaging Het
Ncoa7 T C 10: 30,570,097 (GRCm39) I249M probably damaging Het
Obox5 T C 7: 15,492,558 (GRCm39) V171A probably damaging Het
Or13e8 A T 4: 43,697,134 (GRCm39) V13D possibly damaging Het
Or2c1 T C 16: 3,657,521 (GRCm39) I228T probably damaging Het
Or5ak20 A T 2: 85,184,243 (GRCm39) V9E probably damaging Het
Or6c219 A G 10: 129,781,379 (GRCm39) L69P probably damaging Het
Or7a36 C A 10: 78,819,820 (GRCm39) N32K probably damaging Het
Parp4 A G 14: 56,839,752 (GRCm39) T487A probably damaging Het
Pclo A G 5: 14,729,845 (GRCm39) probably benign Het
Pcnx2 G A 8: 126,500,669 (GRCm39) R1474C probably damaging Het
Qtrt2 A G 16: 43,692,195 (GRCm39) probably benign Het
Sart1 G A 19: 5,430,287 (GRCm39) P788L probably damaging Het
Sdk1 A G 5: 141,984,634 (GRCm39) T740A probably benign Het
Serpinb1c T C 13: 33,072,979 (GRCm39) D61G possibly damaging Het
Slc24a5 G A 2: 124,922,782 (GRCm39) G152S probably damaging Het
Slc6a4 A T 11: 76,910,022 (GRCm39) I426F possibly damaging Het
Stk33 C T 7: 108,879,027 (GRCm39) V441I probably benign Het
Sult1c2 A G 17: 54,143,927 (GRCm39) probably null Het
Tdpoz4 T A 3: 93,703,835 (GRCm39) V44E probably benign Het
Tmprss13 C A 9: 45,254,529 (GRCm39) T432K probably damaging Het
Traf7 A G 17: 24,729,527 (GRCm39) L428P probably damaging Het
Tubb1 T C 2: 174,299,215 (GRCm39) I299T probably benign Het
Vmn1r158 A T 7: 22,489,772 (GRCm39) W146R probably damaging Het
Vmn1r42 A G 6: 89,822,059 (GRCm39) I170T possibly damaging Het
Vmn2r116 A T 17: 23,606,063 (GRCm39) H325L probably damaging Het
Zfp516 T A 18: 83,011,300 (GRCm39) L1111H possibly damaging Het
Zfp61 C G 7: 23,990,635 (GRCm39) K505N probably damaging Het
Zfp653 C A 9: 21,969,274 (GRCm39) E331* probably null Het
Zfp949 A T 9: 88,451,830 (GRCm39) K467* probably null Het
Other mutations in Kcng1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Kcng1 APN 2 168,110,684 (GRCm39) missense probably benign
IGL01316:Kcng1 APN 2 168,110,960 (GRCm39) missense probably damaging 1.00
PIT4378001:Kcng1 UTSW 2 168,104,604 (GRCm39) missense probably damaging 0.98
R0104:Kcng1 UTSW 2 168,110,966 (GRCm39) missense probably damaging 1.00
R0692:Kcng1 UTSW 2 168,104,683 (GRCm39) missense probably damaging 0.99
R1574:Kcng1 UTSW 2 168,110,961 (GRCm39) missense probably damaging 1.00
R1591:Kcng1 UTSW 2 168,110,630 (GRCm39) missense possibly damaging 0.76
R1731:Kcng1 UTSW 2 168,110,609 (GRCm39) missense probably benign 0.00
R1937:Kcng1 UTSW 2 168,104,941 (GRCm39) missense probably benign 0.02
R1960:Kcng1 UTSW 2 168,104,904 (GRCm39) missense probably benign 0.03
R2145:Kcng1 UTSW 2 168,110,952 (GRCm39) missense probably damaging 1.00
R4167:Kcng1 UTSW 2 168,104,617 (GRCm39) missense probably damaging 1.00
R5215:Kcng1 UTSW 2 168,105,053 (GRCm39) missense probably benign 0.20
R5816:Kcng1 UTSW 2 168,110,643 (GRCm39) missense possibly damaging 0.90
R6367:Kcng1 UTSW 2 168,104,572 (GRCm39) missense probably damaging 1.00
R7058:Kcng1 UTSW 2 168,104,529 (GRCm39) missense probably damaging 1.00
R7920:Kcng1 UTSW 2 168,104,904 (GRCm39) missense probably benign 0.03
R7984:Kcng1 UTSW 2 168,104,406 (GRCm39) missense possibly damaging 0.93
R8494:Kcng1 UTSW 2 168,105,018 (GRCm39) missense probably damaging 1.00
R8994:Kcng1 UTSW 2 168,110,768 (GRCm39) missense probably benign 0.10
R9111:Kcng1 UTSW 2 168,104,535 (GRCm39) missense probably damaging 1.00
R9178:Kcng1 UTSW 2 168,111,105 (GRCm39) missense possibly damaging 0.93
R9507:Kcng1 UTSW 2 168,111,152 (GRCm39) missense probably damaging 0.96
R9562:Kcng1 UTSW 2 168,104,797 (GRCm39) missense probably damaging 1.00
X0063:Kcng1 UTSW 2 168,110,993 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAGGATGGTGCCAAAAGCTC -3'
(R):5'- GATGTGAAGCCCCAAAATGACC -3'

Sequencing Primer
(F):5'- AAAAGCTCCGGGGTTGC -3'
(R):5'- AAATGACCCTGTTACCGGG -3'
Posted On 2014-06-23