Incidental Mutation 'Y5406:Kcnc1'
ID 201555
Institutional Source Beutler Lab
Gene Symbol Kcnc1
Ensembl Gene ENSMUSG00000058975
Gene Name potassium voltage gated channel, Shaw-related subfamily, member 1
Synonyms Shaw, KShIIIB, NGK2, KV4, Kv3.1, Kcr2-1, C230009H10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # Y5406 ()
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 46045921-46088128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 46076803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 202 (V202I)
Ref Sequence ENSEMBL: ENSMUSP00000124938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025202] [ENSMUST00000160433]
AlphaFold P15388
Predicted Effect probably benign
Transcript: ENSMUST00000025202
AA Change: V202I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000025202
Gene: ENSMUSG00000058975
AA Change: V202I

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 noncoding transcript
Transcript: ENSMUST00000160234
Predicted Effect probably benign
Transcript: ENSMUST00000160433
AA Change: V202I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975
AA Change: V202I

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
  • 1x: 97.2%
  • 3x: 96.4%
  • 10x: 93.6%
  • 20x: 87.2%
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: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Col22a1 G A 15: 71,671,364 (GRCm39) P999S unknown Het
Lactb G T 9: 66,863,437 (GRCm39) Y392* probably null Het
Lrp1 A T 10: 127,390,152 (GRCm39) L3089H probably damaging Het
Orc6 A G 8: 86,034,302 (GRCm39) E175G probably damaging Het
Plod1 G A 4: 148,015,644 (GRCm39) P135L probably damaging Het
Trhr A G 15: 44,061,037 (GRCm39) N186D probably benign Het
Other mutations in Kcnc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Kcnc1 APN 7 46,077,523 (GRCm39) missense possibly damaging 0.95
IGL01860:Kcnc1 APN 7 46,077,554 (GRCm39) missense probably damaging 1.00
IGL02075:Kcnc1 APN 7 46,077,397 (GRCm39) missense probably damaging 1.00
IGL02478:Kcnc1 APN 7 46,084,593 (GRCm39) missense probably benign 0.18
Evanescent UTSW 7 46,077,383 (GRCm39) missense probably damaging 1.00
Subtilis UTSW 7 46,077,245 (GRCm39) missense probably damaging 1.00
wispy UTSW 7 46,076,821 (GRCm39) missense probably damaging 1.00
R1438:Kcnc1 UTSW 7 46,077,691 (GRCm39) missense possibly damaging 0.81
R1487:Kcnc1 UTSW 7 46,084,772 (GRCm39) critical splice donor site probably null
R1487:Kcnc1 UTSW 7 46,047,298 (GRCm39) missense possibly damaging 0.88
R1595:Kcnc1 UTSW 7 46,077,010 (GRCm39) missense probably benign 0.25
R2273:Kcnc1 UTSW 7 46,077,226 (GRCm39) missense probably damaging 1.00
R2345:Kcnc1 UTSW 7 46,047,370 (GRCm39) missense probably damaging 1.00
R4126:Kcnc1 UTSW 7 46,047,426 (GRCm39) missense probably damaging 0.98
R4387:Kcnc1 UTSW 7 46,047,126 (GRCm39) missense possibly damaging 0.89
R4388:Kcnc1 UTSW 7 46,047,126 (GRCm39) missense possibly damaging 0.89
R4508:Kcnc1 UTSW 7 46,077,712 (GRCm39) missense probably benign 0.15
R4688:Kcnc1 UTSW 7 46,047,259 (GRCm39) missense probably benign 0.01
R4784:Kcnc1 UTSW 7 46,086,711 (GRCm39) missense probably benign 0.00
R5293:Kcnc1 UTSW 7 46,047,235 (GRCm39) missense probably benign 0.01
R5993:Kcnc1 UTSW 7 46,076,956 (GRCm39) missense probably damaging 1.00
R6296:Kcnc1 UTSW 7 46,084,740 (GRCm39) missense probably benign 0.00
R6512:Kcnc1 UTSW 7 46,076,821 (GRCm39) missense probably damaging 1.00
R6678:Kcnc1 UTSW 7 46,047,229 (GRCm39) missense probably benign 0.30
R6801:Kcnc1 UTSW 7 46,084,716 (GRCm39) missense probably damaging 0.99
R7232:Kcnc1 UTSW 7 46,077,383 (GRCm39) missense probably damaging 1.00
R7886:Kcnc1 UTSW 7 46,077,045 (GRCm39) missense probably damaging 1.00
R7899:Kcnc1 UTSW 7 46,077,245 (GRCm39) missense probably damaging 1.00
R7998:Kcnc1 UTSW 7 46,047,223 (GRCm39) missense probably benign 0.01
R8990:Kcnc1 UTSW 7 46,077,733 (GRCm39) makesense probably null
R9347:Kcnc1 UTSW 7 46,077,034 (GRCm39) missense probably damaging 1.00
R9562:Kcnc1 UTSW 7 46,077,010 (GRCm39) missense probably benign 0.25
R9565:Kcnc1 UTSW 7 46,077,010 (GRCm39) missense probably benign 0.25
R9691:Kcnc1 UTSW 7 46,076,955 (GRCm39) nonsense probably null
X0022:Kcnc1 UTSW 7 46,084,664 (GRCm39) missense probably benign
X0054:Kcnc1 UTSW 7 46,047,316 (GRCm39) missense probably damaging 1.00
Z1177:Kcnc1 UTSW 7 46,047,276 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGCATGGCATGTCGGCTTAG -3'
(R):5'- ATTCCACCTTGTTGGGGCAG -3'

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