Incidental Mutation 'R5293:Kcnc1'
ID 405249
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 042876-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R5293 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 46045921-46088128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46047235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 45 (H45R)
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: H45R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000025202
Gene: ENSMUSG00000058975
AA Change: H45R

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: H45R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975
AA Change: H45R

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A G 8: 25,300,722 (GRCm39) V269A possibly damaging Het
Akap9 C T 5: 3,998,687 (GRCm39) R19W probably damaging Het
Akr7a5 G T 4: 139,041,517 (GRCm39) R142L probably benign Het
Atp6v0a2 A T 5: 124,784,649 (GRCm39) M311L probably benign Het
Atxn1 C T 13: 45,721,844 (GRCm39) R17H probably damaging Het
Ccdc116 A T 16: 16,959,651 (GRCm39) L346Q possibly damaging Het
Copg2 T A 6: 30,803,162 (GRCm39) N261I probably damaging Het
Crtc2 A G 3: 90,170,871 (GRCm39) E648G probably benign Het
Dnah10 A C 5: 124,868,851 (GRCm39) K2334Q probably benign Het
Foxa2 T C 2: 147,885,922 (GRCm39) T123A probably benign Het
Galnt6 A G 15: 100,601,382 (GRCm39) V299A probably benign Het
Grip1 T C 10: 119,733,640 (GRCm39) S26P probably damaging Het
Jkamp A G 12: 72,136,883 (GRCm39) S84G probably benign Het
Knl1 T C 2: 118,900,176 (GRCm39) Y626H probably damaging Het
Mmp19 T A 10: 128,626,970 (GRCm39) V16D probably damaging Het
Mrpl38 T C 11: 116,023,599 (GRCm39) N280S probably benign Het
Myl7 T A 11: 5,848,521 (GRCm39) probably benign Het
Ngef CCCTCCTCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTCCTCCTC 1: 87,431,151 (GRCm39) probably benign Het
Nlrp2 A C 7: 5,330,614 (GRCm39) L594R probably damaging Het
Or2y3 T A 17: 38,393,131 (GRCm39) H246L probably damaging Het
Or4f15 T G 2: 111,813,611 (GRCm39) K269N probably damaging Het
Or52n2c T C 7: 104,574,486 (GRCm39) T162A probably benign Het
Pkhd1 T C 1: 20,579,300 (GRCm39) E1802G possibly damaging Het
Pkhd1l1 T C 15: 44,399,146 (GRCm39) V2070A probably benign Het
Plcxd2 G T 16: 45,800,706 (GRCm39) H173N probably damaging Het
Plec C G 15: 76,083,783 (GRCm39) W26C probably benign Het
Psmc1 C T 12: 100,081,731 (GRCm39) T111I probably benign Het
Rbfa T C 18: 80,235,981 (GRCm39) E256G probably benign Het
Sh3d21 T A 4: 126,046,050 (GRCm39) T173S probably benign Het
Slc41a3 T A 6: 90,603,426 (GRCm39) V149E probably damaging Het
Sntg1 A G 1: 8,665,757 (GRCm39) S186P probably damaging Het
Spag4 A G 2: 155,908,111 (GRCm39) D29G probably benign Het
Spc25 A G 2: 69,032,996 (GRCm39) V43A possibly damaging Het
Spen G A 4: 141,199,717 (GRCm39) A2947V possibly damaging Het
Spta1 T C 1: 174,023,551 (GRCm39) S653P probably damaging Het
Ssrp1 T A 2: 84,872,596 (GRCm39) Y411* probably null Het
Synrg C T 11: 83,872,325 (GRCm39) L149F probably damaging Het
Trappc11 G A 8: 47,946,377 (GRCm39) A1085V possibly damaging Het
Ttn T C 2: 76,571,276 (GRCm39) E18212G probably damaging Het
Wnk4 T G 11: 101,166,023 (GRCm39) 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
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'- TAGGCGCCTTAAAGACCCTAG -3'
(R):5'- GATAGGTCATCCAGCAGCAG -3'

Sequencing Primer
(F):5'- GCCTTAAAGACCCTAGGGAGC -3'
(R):5'- TCATCCAGCAGCAGGGCTC -3'
Posted On 2016-07-22