Incidental Mutation 'R4508:Kcnc1'
ID |
331068 |
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 |
041757-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R4508 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
46045921-46088128 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 46077712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 505
(P505S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025202
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025202]
[ENSMUST00000160433]
|
AlphaFold |
P15388 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025202
AA Change: P505S
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000025202 Gene: ENSMUSG00000058975 AA Change: P505S
Domain | Start | End | E-Value | Type |
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
|
SMART Domains |
Protein: ENSMUSP00000124938 Gene: ENSMUSG00000058975
Domain | Start | End | E-Value | Type |
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 |
0.0836 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
100% (50/50) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
A |
G |
2: 150,746,275 (GRCm39) |
|
probably benign |
Het |
Amer3 |
A |
G |
1: 34,627,380 (GRCm39) |
R540G |
probably benign |
Het |
Ank |
C |
T |
15: 27,565,063 (GRCm39) |
R255W |
probably damaging |
Het |
Ank3 |
A |
C |
10: 69,728,200 (GRCm39) |
I629L |
probably damaging |
Het |
Arhgap11a |
T |
A |
2: 113,672,387 (GRCm39) |
N194Y |
probably damaging |
Het |
BB014433 |
T |
C |
8: 15,092,095 (GRCm39) |
T253A |
possibly damaging |
Het |
Ccdc40 |
C |
A |
11: 119,133,335 (GRCm39) |
D534E |
probably damaging |
Het |
Chrna2 |
C |
A |
14: 66,383,902 (GRCm39) |
N106K |
probably damaging |
Het |
Clec2f |
C |
A |
6: 128,997,474 (GRCm39) |
|
noncoding transcript |
Het |
Cnnm2 |
G |
A |
19: 46,865,709 (GRCm39) |
D766N |
probably benign |
Het |
Ctc1 |
A |
G |
11: 68,906,943 (GRCm39) |
|
probably null |
Het |
Ddc |
C |
T |
11: 11,769,393 (GRCm39) |
|
probably null |
Het |
Doc2g |
G |
A |
19: 4,054,036 (GRCm39) |
|
probably benign |
Het |
Ep400 |
T |
C |
5: 110,851,481 (GRCm39) |
T1334A |
unknown |
Het |
Epdr1 |
T |
C |
13: 19,778,659 (GRCm39) |
I44V |
probably benign |
Het |
Fbp2 |
A |
T |
13: 62,989,679 (GRCm39) |
I209N |
probably damaging |
Het |
Garin1b |
T |
C |
6: 29,323,764 (GRCm39) |
V163A |
probably benign |
Het |
Get1 |
T |
A |
16: 95,946,899 (GRCm39) |
|
probably benign |
Het |
Gldc |
G |
T |
19: 30,120,807 (GRCm39) |
Q375K |
probably damaging |
Het |
Hc |
A |
C |
2: 34,903,077 (GRCm39) |
V1058G |
possibly damaging |
Het |
Hydin |
T |
A |
8: 111,245,886 (GRCm39) |
S2200T |
possibly damaging |
Het |
Kifc3 |
T |
C |
8: 95,834,048 (GRCm39) |
|
probably null |
Het |
Klhl10 |
A |
G |
11: 100,333,002 (GRCm39) |
E49G |
possibly damaging |
Het |
Lhx5 |
T |
C |
5: 120,573,499 (GRCm39) |
S161P |
probably damaging |
Het |
Lilra6 |
G |
T |
7: 3,915,028 (GRCm39) |
Y455* |
probably null |
Het |
Lzts1 |
C |
T |
8: 69,588,270 (GRCm39) |
R562H |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,226,356 (GRCm39) |
|
probably benign |
Het |
Ogfod2 |
C |
T |
5: 124,251,317 (GRCm39) |
Q74* |
probably null |
Het |
Or4f56 |
A |
C |
2: 111,703,947 (GRCm39) |
D84E |
probably damaging |
Het |
Or5h17 |
T |
A |
16: 58,820,138 (GRCm39) |
V30E |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,633,385 (GRCm39) |
|
probably null |
Het |
Ptpre |
T |
C |
7: 135,270,832 (GRCm39) |
L329P |
probably damaging |
Het |
Rnh1 |
T |
C |
7: 140,744,456 (GRCm39) |
Q73R |
possibly damaging |
Het |
Scly |
G |
A |
1: 91,236,047 (GRCm39) |
V100I |
possibly damaging |
Het |
Sos2 |
A |
T |
12: 69,682,435 (GRCm39) |
L261* |
probably null |
Het |
Sp1 |
A |
C |
15: 102,317,747 (GRCm39) |
Q422P |
possibly damaging |
Het |
Sp3 |
A |
T |
2: 72,800,741 (GRCm39) |
F468Y |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,899,172 (GRCm39) |
Y2662C |
possibly damaging |
Het |
Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
Tmprss2 |
C |
A |
16: 97,371,627 (GRCm39) |
G281C |
probably damaging |
Het |
Tmprss6 |
A |
T |
15: 78,343,978 (GRCm39) |
Y183N |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,580,684 (GRCm39) |
L23403Q |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vmn1r90 |
T |
C |
7: 14,296,084 (GRCm39) |
N5D |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,709,819 (GRCm39) |
D1922G |
possibly damaging |
Het |
|
Other mutations in Kcnc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- TTGGGATGTACTACTCTTTAGCC -3'
(R):5'- AGGGCCACTAGTGAGATTCC -3'
Sequencing Primer
(F):5'- GGATGTACTACTCTTTAGCCATGGC -3'
(R):5'- AGGGCCACTAGTGAGATTCCTCTAG -3'
|
Posted On |
2015-07-21 |