Incidental Mutation 'IGL02478:Kcnc1'
| ID |
295066 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.220)
|
| Stock # |
IGL02478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46045921-46088128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46084593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 506
(N506D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025202]
[ENSMUST00000160433]
|
| AlphaFold |
P15388 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025202
|
| SMART Domains |
Protein: ENSMUSP00000025202
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
|
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: N506D
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975
AA Change: N506D
| 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 |
|
| Coding Region Coverage |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
A |
5: 8,856,018 (GRCm39) |
A42E |
probably damaging |
Het |
| Agmo |
T |
A |
12: 37,451,985 (GRCm39) |
F247L |
probably damaging |
Het |
| Arap1 |
C |
A |
7: 101,049,332 (GRCm39) |
|
probably null |
Het |
| Arid1a |
T |
C |
4: 133,408,585 (GRCm39) |
D1974G |
unknown |
Het |
| Asxl3 |
C |
T |
18: 22,656,070 (GRCm39) |
A1360V |
possibly damaging |
Het |
| Celsr1 |
T |
A |
15: 85,825,337 (GRCm39) |
T1599S |
possibly damaging |
Het |
| Chrdl2 |
T |
C |
7: 99,670,190 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,701,794 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
C |
T |
9: 64,222,055 (GRCm39) |
E452K |
probably benign |
Het |
| Dnajc2 |
A |
T |
5: 21,981,788 (GRCm39) |
H45Q |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,499,840 (GRCm39) |
P213L |
probably benign |
Het |
| Erbb3 |
T |
A |
10: 128,407,227 (GRCm39) |
R978* |
probably null |
Het |
| Exoc2 |
A |
T |
13: 31,111,403 (GRCm39) |
C142S |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,695,039 (GRCm39) |
E735G |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,123,864 (GRCm39) |
V174A |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,942,364 (GRCm39) |
L419P |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,814,736 (GRCm39) |
V3490L |
probably benign |
Het |
| Ftcd |
A |
T |
10: 76,417,255 (GRCm39) |
R255* |
probably null |
Het |
| Galc |
T |
C |
12: 98,179,391 (GRCm39) |
N506S |
possibly damaging |
Het |
| Gm20441 |
G |
T |
10: 75,608,644 (GRCm39) |
A26E |
probably damaging |
Het |
| Gm21969 |
T |
G |
4: 139,367,999 (GRCm39) |
|
probably null |
Het |
| Ifitm3 |
T |
A |
7: 140,589,787 (GRCm39) |
M89L |
possibly damaging |
Het |
| Ift25 |
T |
A |
4: 107,132,449 (GRCm39) |
S79T |
probably benign |
Het |
| Inmt |
T |
C |
6: 55,150,355 (GRCm39) |
E94G |
probably damaging |
Het |
| Insrr |
G |
A |
3: 87,716,719 (GRCm39) |
G649D |
probably benign |
Het |
| Ivd |
T |
C |
2: 118,692,572 (GRCm39) |
L24P |
probably benign |
Het |
| Krt39 |
T |
A |
11: 99,411,723 (GRCm39) |
D121V |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,461,536 (GRCm39) |
I510V |
probably benign |
Het |
| Mkx |
C |
T |
18: 7,002,418 (GRCm39) |
V43M |
probably damaging |
Het |
| Mmp2 |
A |
G |
8: 93,579,235 (GRCm39) |
N108S |
possibly damaging |
Het |
| Mob1b |
T |
C |
5: 88,903,947 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,661,844 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
T |
G |
11: 67,260,204 (GRCm39) |
S1881A |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,558,717 (GRCm39) |
E843G |
probably benign |
Het |
| Ngef |
A |
G |
1: 87,408,301 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
T |
A |
7: 86,313,344 (GRCm39) |
I158N |
probably damaging |
Het |
| Osm |
A |
G |
11: 4,189,507 (GRCm39) |
Y97C |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,816,792 (GRCm39) |
L4556Q |
unknown |
Het |
| Pcyox1l |
T |
C |
18: 61,830,780 (GRCm39) |
D364G |
probably benign |
Het |
| Plekha6 |
T |
A |
1: 133,211,031 (GRCm39) |
V467E |
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,758,158 (GRCm39) |
S312T |
probably damaging |
Het |
| Ripk1 |
T |
A |
13: 34,194,572 (GRCm39) |
L70Q |
probably damaging |
Het |
| Rnaseh1 |
A |
T |
12: 28,705,662 (GRCm39) |
Y162F |
probably damaging |
Het |
| Ror2 |
T |
A |
13: 53,275,703 (GRCm39) |
T195S |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,709,006 (GRCm39) |
L33P |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,151,968 (GRCm39) |
C163* |
probably null |
Het |
| Slc25a37 |
A |
T |
14: 69,486,883 (GRCm39) |
N133K |
probably benign |
Het |
| Slitrk3 |
A |
C |
3: 72,958,046 (GRCm39) |
V242G |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,801,845 (GRCm39) |
S82P |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,088,199 (GRCm39) |
N1417D |
probably benign |
Het |
| Tas2r122 |
A |
G |
6: 132,688,578 (GRCm39) |
V105A |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,661 (GRCm39) |
E1763G |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,018,624 (GRCm39) |
N1261S |
probably benign |
Het |
| Vmn2r69 |
A |
G |
7: 85,055,889 (GRCm39) |
S750P |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,519,786 (GRCm39) |
T568A |
probably benign |
Het |
| Zfp319 |
T |
A |
8: 96,055,721 (GRCm39) |
I161F |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation