Incidental Mutation 'IGL02478:Kcnc1'
ID295066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnc1
Ensembl Gene ENSMUSG00000058975
Gene Namepotassium voltage gated channel, Shaw-related subfamily, member 1
SynonymsKv3.1, C230009H10Rik, Kcr2-1, KShIIIB, NGK2, KV4, Shaw
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.192) question?
Stock #IGL02478
Quality Score
Status
Chromosome7
Chromosomal Location46396497-46438704 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 46435169 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 506 (N506D)
Ref Sequence ENSEMBL: ENSMUSP00000124938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025202] [ENSMUST00000160433]
Predicted Effect probably benign
Transcript: ENSMUST00000025202
SMART Domains Protein: ENSMUSP00000025202
Gene: ENSMUSG00000058975

DomainStartEndE-ValueType
BTB 8 112 2.29e-15 SMART
low complexity region 125 149 N/A INTRINSIC
Pfam:Ion_trans 247 435 2.8e-34 PFAM
Pfam:Ion_trans_2 346 440 1.5e-12 PFAM
low complexity region 449 464 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160433
AA Change: N506D

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975
AA Change: N506D

DomainStartEndE-ValueType
BTB 8 112 2.29e-15 SMART
low complexity region 125 149 N/A INTRINSIC
Pfam:Ion_trans 189 447 6.9e-47 PFAM
Pfam:Ion_trans_2 347 440 1.4e-12 PFAM
low complexity region 449 464 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,806,018 A42E probably damaging Het
Agmo T A 12: 37,401,986 F247L probably damaging Het
Arap1 C A 7: 101,400,125 probably null Het
Arid1a T C 4: 133,681,274 D1974G unknown Het
Asxl3 C T 18: 22,523,013 A1360V possibly damaging Het
Celsr1 T A 15: 85,941,136 T1599S possibly damaging Het
Chrdl2 T C 7: 100,020,983 probably null Het
Csmd3 T C 15: 47,838,398 probably benign Het
Dis3l C T 9: 64,314,773 E452K probably benign Het
Dnajc2 A T 5: 21,776,790 H45Q probably damaging Het
Eps8 G A 6: 137,522,842 P213L probably benign Het
Erbb3 T A 10: 128,571,358 R978* probably null Het
Exoc2 A T 13: 30,927,420 C142S probably benign Het
Fam184b T C 5: 45,537,697 E735G probably damaging Het
Fam208b T C 13: 3,574,661 E1763G probably benign Het
Fancm T C 12: 65,077,090 V174A probably damaging Het
Fat4 T C 3: 38,888,215 L419P probably damaging Het
Fsip2 G T 2: 82,984,392 V3490L probably benign Het
Ftcd A T 10: 76,581,421 R255* probably null Het
Galc T C 12: 98,213,132 N506S possibly damaging Het
Gm20441 G T 10: 75,772,810 A26E probably damaging Het
Gm21969 T G 4: 139,640,688 probably null Het
Hspb11 T A 4: 107,275,252 S79T probably benign Het
Ifitm3 T A 7: 141,009,874 M89L possibly damaging Het
Inmt T C 6: 55,173,370 E94G probably damaging Het
Insrr G A 3: 87,809,412 G649D probably benign Het
Ivd T C 2: 118,862,091 L24P probably benign Het
Krt39 T A 11: 99,520,897 D121V probably benign Het
Lcp1 A G 14: 75,224,096 I510V probably benign Het
Mkx C T 18: 7,002,418 V43M probably damaging Het
Mmp2 A G 8: 92,852,607 N108S possibly damaging Het
Mob1b T C 5: 88,756,088 probably benign Het
Morc3 A G 16: 93,864,956 probably benign Het
Myh13 T G 11: 67,369,378 S1881A probably benign Het
Nalcn T C 14: 123,321,305 E843G probably benign Het
Ngef A G 1: 87,480,579 probably benign Het
Olfr293 T A 7: 86,664,136 I158N probably damaging Het
Osm A G 11: 4,239,507 Y97C probably damaging Het
Pclo T A 5: 14,766,778 L4556Q unknown Het
Pcyox1l T C 18: 61,697,709 D364G probably benign Het
Plekha6 T A 1: 133,283,293 V467E probably benign Het
Qrsl1 A T 10: 43,882,162 S312T probably damaging Het
Ripk1 T A 13: 34,010,589 L70Q probably damaging Het
Rnaseh1 A T 12: 28,655,663 Y162F probably damaging Het
Ror2 T A 13: 53,121,667 T195S probably damaging Het
Sh3bp2 T C 5: 34,551,662 L33P probably damaging Het
Skil T A 3: 31,097,819 C163* probably null Het
Slc25a37 A T 14: 69,249,434 N133K probably benign Het
Slitrk3 A C 3: 73,050,713 V242G probably damaging Het
Sra1 A G 18: 36,668,792 S82P probably benign Het
Synj2 A G 17: 6,037,924 N1417D probably benign Het
Tas2r122 A G 6: 132,711,615 V105A possibly damaging Het
Ttc21b T C 2: 66,188,280 N1261S probably benign Het
Vmn2r69 A G 7: 85,406,681 S750P probably damaging Het
Wdr95 A G 5: 149,596,321 T568A probably benign Het
Zfp319 T A 8: 95,329,093 I161F possibly damaging Het
Other mutations in Kcnc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Kcnc1 APN 7 46428099 missense possibly damaging 0.95
IGL01860:Kcnc1 APN 7 46428130 missense probably damaging 1.00
IGL02075:Kcnc1 APN 7 46427973 missense probably damaging 1.00
Evanescent UTSW 7 46427959 missense probably damaging 1.00
wispy UTSW 7 46427397 missense probably damaging 1.00
R1438:Kcnc1 UTSW 7 46428267 missense possibly damaging 0.81
R1487:Kcnc1 UTSW 7 46397874 missense possibly damaging 0.88
R1487:Kcnc1 UTSW 7 46435348 critical splice donor site probably null
R1595:Kcnc1 UTSW 7 46427586 missense probably benign 0.03
R2273:Kcnc1 UTSW 7 46427802 missense probably damaging 1.00
R2345:Kcnc1 UTSW 7 46397946 missense probably damaging 1.00
R4126:Kcnc1 UTSW 7 46398002 missense probably damaging 0.98
R4387:Kcnc1 UTSW 7 46397702 missense possibly damaging 0.89
R4388:Kcnc1 UTSW 7 46397702 missense possibly damaging 0.89
R4508:Kcnc1 UTSW 7 46428288 missense probably benign 0.15
R4688:Kcnc1 UTSW 7 46397835 missense probably benign 0.01
R4784:Kcnc1 UTSW 7 46437287 missense probably benign 0.00
R5293:Kcnc1 UTSW 7 46397811 missense probably benign 0.01
R5993:Kcnc1 UTSW 7 46427532 missense probably damaging 1.00
R6296:Kcnc1 UTSW 7 46435316 missense probably benign 0.00
R6512:Kcnc1 UTSW 7 46427397 missense probably damaging 1.00
R6678:Kcnc1 UTSW 7 46397805 missense probably benign 0.30
R6801:Kcnc1 UTSW 7 46435292 missense probably damaging 0.99
R7232:Kcnc1 UTSW 7 46427959 missense probably damaging 1.00
X0022:Kcnc1 UTSW 7 46435240 missense probably benign
X0054:Kcnc1 UTSW 7 46397892 missense probably damaging 1.00
Y5406:Kcnc1 UTSW 7 46427379 missense probably benign 0.00
Posted On2015-04-16