Incidental Mutation 'R4388:Kcnc1'
| ID |
326306 |
| 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 |
041125-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R4388 (G1)
|
| Quality Score |
146 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
46045921-46088128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46047126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 9
(R9S)
|
| 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: R9S
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025202
Gene: ENSMUSG00000058975
AA Change: R9S
| 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 |
possibly damaging
Transcript: ENSMUST00000160433
AA Change: R9S
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975
AA Change: R9S
| 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 |
0.2777 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
86% (31/36) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,464,693 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,729,828 (GRCm39) |
T218A |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,349,486 (GRCm39) |
D254G |
probably damaging |
Het |
| Arpc4 |
A |
G |
6: 113,362,458 (GRCm39) |
D36G |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
| Cldn20 |
G |
A |
17: 3,583,485 (GRCm39) |
M219I |
probably benign |
Het |
| Dmxl2 |
G |
A |
9: 54,303,551 (GRCm39) |
P2308S |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,533,329 (GRCm39) |
I549V |
probably damaging |
Het |
| Galnt2 |
T |
C |
8: 125,022,192 (GRCm39) |
|
probably null |
Het |
| Galnt9 |
A |
G |
5: 110,736,257 (GRCm39) |
D191G |
probably damaging |
Het |
| Hgf |
T |
A |
5: 16,819,941 (GRCm39) |
H557Q |
probably benign |
Het |
| Ifna12 |
T |
C |
4: 88,521,346 (GRCm39) |
D67G |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,819,757 (GRCm39) |
I356V |
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,663,512 (GRCm39) |
V164A |
possibly damaging |
Het |
| Kmt2b |
A |
C |
7: 30,288,015 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,751,507 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
T |
A |
16: 22,898,068 (GRCm39) |
H489Q |
possibly damaging |
Het |
| Larp7-ps |
A |
T |
4: 92,079,351 (GRCm39) |
S157T |
probably benign |
Het |
| Map4k5 |
C |
A |
12: 69,892,583 (GRCm39) |
M115I |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Naca |
T |
C |
10: 127,880,661 (GRCm39) |
S1898P |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,000,902 (GRCm39) |
K66E |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Pex26 |
A |
G |
6: 121,161,351 (GRCm39) |
D43G |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,598 (GRCm39) |
S966P |
probably damaging |
Het |
| Recql4 |
A |
G |
15: 76,590,158 (GRCm39) |
S659P |
probably benign |
Het |
| Serpina3n |
C |
A |
12: 104,377,616 (GRCm39) |
Q290K |
probably benign |
Het |
| Sft2d1 |
A |
G |
17: 8,539,469 (GRCm39) |
K91E |
possibly damaging |
Het |
| Slc25a16 |
T |
C |
10: 62,764,105 (GRCm39) |
V54A |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,069,249 (GRCm39) |
Y2846H |
possibly damaging |
Het |
| Ttll2 |
T |
A |
17: 7,618,599 (GRCm39) |
R443* |
probably null |
Het |
| Uty |
A |
G |
Y: 1,151,956 (GRCm39) |
S795P |
possibly damaging |
Het |
| Xrcc5 |
T |
A |
1: 72,369,189 (GRCm39) |
S348T |
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 |
|
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'- TAGGCGCCTTAAAGACCCTAGG -3'
(R):5'- TTCAGGATGTGAGCGAAGAC -3'
Sequencing Primer
(F):5'- TTAAAGACCCTAGGGAGCCCG -3'
(R):5'- CGAAGACGCCCGGGTGG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation