Incidental Mutation 'IGL00091:Kcng1'
ID1815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcng1
Ensembl Gene ENSMUSG00000074575
Gene Namepotassium voltage-gated channel, subfamily G, member 1
SynonymsOTTMUSG00000016048
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #IGL00091
Quality Score
Status
Chromosome2
Chromosomal Location168260117-168281736 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 168268764 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 160 (H160R)
Ref Sequence ENSEMBL: ENSMUSP00000104815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099069] [ENSMUST00000109191] [ENSMUST00000131749]
Predicted Effect probably benign
Transcript: ENSMUST00000099069
AA Change: H160R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096668
Gene: ENSMUSG00000074575
AA Change: H160R

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 benign
Transcript: ENSMUST00000109191
AA Change: H160R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104815
Gene: ENSMUSG00000074575
AA Change: H160R

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,883,428 Y400F probably benign Het
Adamts8 C A 9: 30,953,500 T429K probably damaging Het
Adgrv1 C T 13: 81,578,101 D602N probably damaging Het
Ano7 A T 1: 93,402,166 H775L probably benign Het
Apoo-ps A T 13: 107,414,634 noncoding transcript Het
Arid2 T C 15: 96,372,302 V1432A probably benign Het
Atoh1 T C 6: 64,729,584 S88P possibly damaging Het
C130050O18Rik A G 5: 139,414,846 E218G probably damaging Het
Cacna2d1 T A 5: 16,212,944 F155L probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cyp1a2 G T 9: 57,682,069 S154* probably null Het
Cyp3a25 A T 5: 146,001,463 Y68* probably null Het
Dmbt1 C A 7: 131,079,540 probably benign Het
Dnajc22 T A 15: 99,101,178 F81L possibly damaging Het
Eml5 G A 12: 98,873,209 probably benign Het
Fpgs A T 2: 32,686,547 probably benign Het
Gab2 T C 7: 97,302,443 S537P possibly damaging Het
Gmds G A 13: 32,234,390 S37L probably damaging Het
Ipo13 T C 4: 117,903,405 E626G probably benign Het
Lama3 A G 18: 12,580,292 T1608A probably benign Het
Lama4 A C 10: 39,072,805 S855R probably damaging Het
Ltbp1 C T 17: 75,225,338 H454Y probably damaging Het
Map3k14 C A 11: 103,227,579 G594C probably damaging Het
Mcph1 A G 8: 18,632,620 N591S possibly damaging Het
Moxd1 G A 10: 24,279,864 V289I probably damaging Het
Mptx2 T G 1: 173,274,888 N78T probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Nup50 T A 15: 84,935,404 F293Y probably benign Het
Ogn A G 13: 49,621,038 Y219C probably damaging Het
Pdia3 T C 2: 121,414,178 L47P probably damaging Het
Piwil4 A T 9: 14,703,097 D786E probably damaging Het
Pspc1 A G 14: 56,771,711 L222P probably damaging Het
Ptchd3 T A 11: 121,831,146 Y282N probably damaging Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpini2 T C 3: 75,249,242 Y327C probably damaging Het
Spire2 A G 8: 123,354,059 D14G probably damaging Het
Stab2 A T 10: 86,869,206 probably null Het
Timeless T C 10: 128,241,708 L219P probably damaging Het
Tmem63a C T 1: 180,963,088 T437M probably damaging Het
Tslp A G 18: 32,815,395 probably benign Het
Ttbk2 C A 2: 120,748,833 G534* probably null Het
Uggt1 T C 1: 36,179,552 probably benign Het
Vmn2r118 T C 17: 55,592,708 E732G probably damaging Het
Zfhx2 G A 14: 55,066,565 P1321S possibly damaging Het
Zfp58 A G 13: 67,490,995 V459A probably benign Het
Zfp831 T C 2: 174,645,658 S709P possibly damaging Het
Other mutations in Kcng1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01316:Kcng1 APN 2 168269040 missense probably damaging 1.00
PIT4378001:Kcng1 UTSW 2 168262684 missense probably damaging 0.98
R0104:Kcng1 UTSW 2 168269046 missense probably damaging 1.00
R0692:Kcng1 UTSW 2 168262763 missense probably damaging 0.99
R1574:Kcng1 UTSW 2 168269041 missense probably damaging 1.00
R1574:Kcng1 UTSW 2 168269041 missense probably damaging 1.00
R1591:Kcng1 UTSW 2 168268710 missense possibly damaging 0.76
R1731:Kcng1 UTSW 2 168268689 missense probably benign 0.00
R1937:Kcng1 UTSW 2 168263021 missense probably benign 0.02
R1960:Kcng1 UTSW 2 168262984 missense probably benign 0.03
R2145:Kcng1 UTSW 2 168269032 missense probably damaging 1.00
R4167:Kcng1 UTSW 2 168262697 missense probably damaging 1.00
R5215:Kcng1 UTSW 2 168263133 missense probably benign 0.20
R5816:Kcng1 UTSW 2 168268723 missense possibly damaging 0.90
R6367:Kcng1 UTSW 2 168262652 missense probably damaging 1.00
R7058:Kcng1 UTSW 2 168262609 missense probably damaging 1.00
R7920:Kcng1 UTSW 2 168262984 missense probably benign 0.03
R7984:Kcng1 UTSW 2 168262486 missense possibly damaging 0.93
X0063:Kcng1 UTSW 2 168269073 missense probably benign 0.00
Posted On2011-07-12