Incidental Mutation 'IGL02954:Kcng4'
ID365048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcng4
Ensembl Gene ENSMUSG00000045246
Gene Namepotassium voltage-gated channel, subfamily G, member 4
SynonymsKV6.4, 4921535I01Rik, KV6.3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02954
Quality Score
Status
Chromosome8
Chromosomal Location119623854-119635680 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 119633053 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 195 (A195T)
Ref Sequence ENSEMBL: ENSMUSP00000129687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061828] [ENSMUST00000164382]
Predicted Effect probably benign
Transcript: ENSMUST00000061828
AA Change: A195T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056552
Gene: ENSMUSG00000045246
AA Change: A195T

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 benign
Transcript: ENSMUST00000164382
AA Change: A195T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129687
Gene: ENSMUSG00000045246
AA Change: A195T

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
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G T 5: 8,732,341 R908L probably benign Het
Abcc9 T C 6: 142,646,281 N774S probably damaging Het
Alpk2 C T 18: 65,306,136 V729I probably benign Het
Atf3 T C 1: 191,171,655 N125D probably damaging Het
Bcat1 C T 6: 145,019,219 G215D probably damaging Het
Bptf G T 11: 107,054,749 Q2555K possibly damaging Het
Cthrc1 A G 15: 39,076,994 probably benign Het
Cyp2c38 A G 19: 39,391,076 M443T probably damaging Het
D6Wsu163e C T 6: 126,974,478 probably benign Het
Dgkg T A 16: 22,622,253 E3D probably benign Het
Dnah8 G T 17: 30,704,835 R1259L probably benign Het
Dnah9 A G 11: 66,118,967 L698P probably damaging Het
Ebag9 A C 15: 44,630,205 H141P probably benign Het
Emilin2 T C 17: 71,256,531 R840G probably benign Het
Faap100 A T 11: 120,372,131 H800Q probably damaging Het
Fh1 A T 1: 175,609,735 I266N probably damaging Het
Fkbp15 A G 4: 62,321,065 probably benign Het
Gm17334 A G 11: 53,772,828 probably benign Het
Gm5773 G T 3: 93,773,051 W10L probably benign Het
Gng13 T C 17: 25,718,752 Y18H probably damaging Het
Hivep3 T C 4: 120,133,641 S2113P probably damaging Het
Ift81 A T 5: 122,610,185 probably benign Het
Irak3 A C 10: 120,176,242 L206V probably damaging Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Nars2 T G 7: 97,039,893 probably null Het
Nol8 T C 13: 49,661,172 V234A probably benign Het
Olfr533 A T 7: 140,466,440 K80* probably null Het
Olfr99 T A 17: 37,280,304 N39Y probably damaging Het
Patz1 A G 11: 3,291,761 Y383C probably damaging Het
Pdcd5 T C 7: 35,643,664 Y152C probably damaging Het
Phkg1 A G 5: 129,866,069 W214R probably damaging Het
Plxna1 A G 6: 89,324,667 L1459P probably damaging Het
Pspc1 G A 14: 56,771,760 P206S probably benign Het
St7 A T 6: 17,848,031 N198I probably damaging Het
Supt3 A G 17: 45,038,128 D249G probably damaging Het
Taf1c T C 8: 119,600,486 Y418C probably damaging Het
Tdrd6 A G 17: 43,627,262 V965A possibly damaging Het
Ugt2b35 A G 5: 87,011,321 N458S probably benign Het
Vmn1r8 A G 6: 57,036,330 Y122C probably benign Het
Other mutations in Kcng4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Kcng4 APN 8 119626331 missense probably benign 0.00
IGL01360:Kcng4 APN 8 119625677 missense probably benign 0.40
IGL02094:Kcng4 APN 8 119633221 missense probably damaging 0.98
IGL02205:Kcng4 APN 8 119626083 missense probably damaging 0.99
IGL02892:Kcng4 APN 8 119633082 missense probably benign
IGL02927:Kcng4 APN 8 119626322 missense probably benign
IGL03143:Kcng4 APN 8 119625770 missense probably damaging 1.00
FR4449:Kcng4 UTSW 8 119633519 nonsense probably null
FR4548:Kcng4 UTSW 8 119633519 nonsense probably null
FR4737:Kcng4 UTSW 8 119633519 nonsense probably null
FR4976:Kcng4 UTSW 8 119633519 nonsense probably null
LCD18:Kcng4 UTSW 8 119633519 nonsense probably null
R0017:Kcng4 UTSW 8 119633520 missense probably damaging 1.00
R1777:Kcng4 UTSW 8 119633487 missense probably benign 0.02
R1852:Kcng4 UTSW 8 119626208 missense probably benign 0.01
R1967:Kcng4 UTSW 8 119632923 missense probably damaging 1.00
R3886:Kcng4 UTSW 8 119633247 missense probably benign 0.34
R4009:Kcng4 UTSW 8 119626085 missense probably damaging 1.00
R5137:Kcng4 UTSW 8 119625878 missense possibly damaging 0.88
R5792:Kcng4 UTSW 8 119626279 missense probably damaging 1.00
R5987:Kcng4 UTSW 8 119626359 missense probably damaging 1.00
R6339:Kcng4 UTSW 8 119632954 missense probably damaging 1.00
R6379:Kcng4 UTSW 8 119633620 nonsense probably null
R6430:Kcng4 UTSW 8 119633050 missense probably damaging 0.96
R7847:Kcng4 UTSW 8 119626142 missense probably damaging 1.00
R7930:Kcng4 UTSW 8 119626142 missense probably damaging 1.00
X0024:Kcng4 UTSW 8 119633367 missense probably damaging 1.00
Posted On2015-12-18