Incidental Mutation 'R1438:Kcnc1'
ID 160768
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
MMRRC Submission 039493-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R1438 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 46045921-46088128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46077691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 498 (I498F)
Ref Sequence ENSEMBL: ENSMUSP00000124938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025202] [ENSMUST00000160433]
AlphaFold P15388
Predicted Effect possibly damaging
Transcript: ENSMUST00000025202
AA Change: I498F

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025202
Gene: ENSMUSG00000058975
AA Change: I498F

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 possibly damaging
Transcript: ENSMUST00000160433
AA Change: I498F

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975
AA Change: I498F

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
Meta Mutation Damage Score 0.0811 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency 99% (80/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A T 5: 137,552,871 (GRCm39) I67F probably damaging Het
Adam24 A T 8: 41,134,431 (GRCm39) N633I probably benign Het
Adgrg6 T C 10: 14,344,585 (GRCm39) S123G possibly damaging Het
Afdn T A 17: 14,075,652 (GRCm39) F940L probably damaging Het
Ahrr A T 13: 74,372,987 (GRCm39) Y26* probably null Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Aox3 A T 1: 58,192,337 (GRCm39) T536S probably benign Het
Boc A T 16: 44,309,109 (GRCm39) probably null Het
Cchcr1 T C 17: 35,841,457 (GRCm39) probably null Het
Cct2 A T 10: 116,890,897 (GRCm39) probably benign Het
Cd84 A T 1: 171,679,685 (GRCm39) Y121F probably damaging Het
Cecr2 T A 6: 120,738,433 (GRCm39) C275* probably null Het
Chchd3 C A 6: 32,985,503 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,007,971 (GRCm39) probably benign Het
Col5a3 T C 9: 20,691,253 (GRCm39) K1131E probably damaging Het
Dek A T 13: 47,241,647 (GRCm39) S306T probably benign Het
Dhx32 T C 7: 133,339,069 (GRCm39) E322G possibly damaging Het
Dlg5 T A 14: 24,204,673 (GRCm39) D941V possibly damaging Het
Dnah10 A G 5: 124,876,009 (GRCm39) N2559S probably benign Het
Dnajc3 A G 14: 119,205,518 (GRCm39) T171A probably benign Het
Eftud2 G T 11: 102,750,868 (GRCm39) F308L probably damaging Het
Elp6 T C 9: 110,143,123 (GRCm39) F95S probably damaging Het
Emsy C T 7: 98,270,613 (GRCm39) V450I possibly damaging Het
Exoc3 A T 13: 74,338,298 (GRCm39) M362K probably damaging Het
Fat2 A T 11: 55,178,637 (GRCm39) D1474E probably damaging Het
Fcgbp T A 7: 27,803,158 (GRCm39) C1587* probably null Het
Fosl2 T A 5: 32,304,329 (GRCm39) L88Q probably damaging Het
Fsd2 T C 7: 81,198,621 (GRCm39) D381G probably benign Het
Golim4 A C 3: 75,863,440 (GRCm39) S56A probably damaging Het
Gpr39 T C 1: 125,800,093 (GRCm39) probably benign Het
Gucy1b2 T C 14: 62,651,770 (GRCm39) I409V probably damaging Het
Hivep1 A G 13: 42,311,596 (GRCm39) T1279A probably benign Het
Ifit1bl2 T A 19: 34,596,569 (GRCm39) Q349L possibly damaging Het
Kctd21 T A 7: 96,996,704 (GRCm39) I59N probably damaging Het
Lama5 T A 2: 179,824,593 (GRCm39) T2577S probably benign Het
Mief2 G T 11: 60,621,140 (GRCm39) R9M possibly damaging Het
Mmp3 T C 9: 7,453,705 (GRCm39) V442A probably benign Het
Nkapd1 C A 9: 50,518,972 (GRCm39) K213N possibly damaging Het
Nrxn3 C T 12: 90,298,909 (GRCm39) R477W probably damaging Het
Or12e7 A G 2: 87,288,336 (GRCm39) T276A probably benign Het
Or7a41 T A 10: 78,871,122 (GRCm39) V164E possibly damaging Het
Parp1 A G 1: 180,418,807 (GRCm39) T656A probably benign Het
Pcdhb19 A G 18: 37,631,015 (GRCm39) D270G probably damaging Het
Phlpp1 A G 1: 106,101,142 (GRCm39) D470G possibly damaging Het
Prdm1 T C 10: 44,318,124 (GRCm39) E248G probably benign Het
Prtg C T 9: 72,818,032 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,818,529 (GRCm39) Y424H probably damaging Het
Ptprr T C 10: 116,092,109 (GRCm39) V369A probably damaging Het
Rai1 T G 11: 60,076,221 (GRCm39) V95G probably benign Het
Rasal3 T A 17: 32,612,509 (GRCm39) probably null Het
Rbm19 A G 5: 120,260,961 (GRCm39) E195G probably benign Het
Rhbdd3 T A 11: 5,053,332 (GRCm39) L44Q probably damaging Het
Ripply2 T C 9: 86,901,713 (GRCm39) W80R probably damaging Het
Rnf183 A G 4: 62,346,760 (GRCm39) C13R probably damaging Het
Rorb A G 19: 18,932,417 (GRCm39) L367P probably damaging Het
Rpl7a-ps5 C T 17: 58,146,135 (GRCm39) probably benign Het
Rreb1 A G 13: 38,114,581 (GRCm39) N647D probably benign Het
Rtn1 A T 12: 72,351,187 (GRCm39) S341T probably damaging Het
Ryr3 T C 2: 112,588,046 (GRCm39) S2632G probably benign Het
Scube1 A G 15: 83,499,227 (GRCm39) C633R possibly damaging Het
Sdk1 A T 5: 142,024,078 (GRCm39) I723F probably damaging Het
Sec23a A T 12: 59,048,796 (GRCm39) C109S probably damaging Het
Septin11 T C 5: 93,296,287 (GRCm39) F60L probably damaging Het
Sgf29 G A 7: 126,271,063 (GRCm39) probably null Het
Skint5 A G 4: 113,413,308 (GRCm39) probably benign Het
Smo G A 6: 29,755,482 (GRCm39) V385I possibly damaging Het
Tada2a G A 11: 84,000,837 (GRCm39) T76I probably damaging Het
Tas2r118 T A 6: 23,969,422 (GRCm39) H213L possibly damaging Het
Thoc5 A T 11: 4,861,427 (GRCm39) probably benign Het
Tmem33 T A 5: 67,424,634 (GRCm39) probably null Het
Top1mt A G 15: 75,546,247 (GRCm39) L78P probably damaging Het
Uvssa T A 5: 33,571,228 (GRCm39) probably benign Het
Vmn2r50 A T 7: 9,784,062 (GRCm39) C137* probably null Het
Vmn2r81 A G 10: 79,129,691 (GRCm39) T861A probably benign Het
Wnt3 A T 11: 103,699,077 (GRCm39) N61I probably damaging Het
Zswim9 A G 7: 13,011,144 (GRCm39) I68T possibly damaging Het
Zzef1 T C 11: 72,803,771 (GRCm39) I2535T probably damaging 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
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
Y5406:Kcnc1 UTSW 7 46,076,803 (GRCm39) missense probably benign 0.00
Z1177:Kcnc1 UTSW 7 46,047,276 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGACGACACTGGGCTATGGAGAC -3'
(R):5'- CCACAACTCAAAGTTGGGCACAGG -3'

Sequencing Primer
(F):5'- GCTATGGAGACATGTATCCCCAG -3'
(R):5'- AAGGTCAGATCGACATGCCT -3'
Posted On 2014-03-14