Incidental Mutation 'IGL02075:Kcnc1'
| ID |
185954 |
| 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: 0.197)
|
| Stock # |
IGL02075
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46045921-46088128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46077397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 400
(T400A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025202]
[ENSMUST00000160433]
|
| AlphaFold |
P15388 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025202
AA Change: T400A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025202
Gene: ENSMUSG00000058975
AA Change: T400A
| 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 damaging
Transcript: ENSMUST00000160433
AA Change: T400A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975
AA Change: T400A
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429P17Rik |
A |
G |
13: 48,114,224 (GRCm39) |
|
noncoding transcript |
Het |
| Abcd4 |
A |
T |
12: 84,655,578 (GRCm39) |
|
probably null |
Het |
| Agrn |
A |
T |
4: 156,254,667 (GRCm39) |
M1548K |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,246,945 (GRCm39) |
S565P |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,438,537 (GRCm39) |
I126M |
probably damaging |
Het |
| Btbd9 |
G |
A |
17: 30,493,910 (GRCm39) |
R494* |
probably null |
Het |
| Coro1c |
G |
T |
5: 113,982,454 (GRCm39) |
R461S |
probably damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,451,165 (GRCm39) |
K19E |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,134,379 (GRCm39) |
Y390C |
probably benign |
Het |
| Ly75 |
G |
T |
2: 60,182,700 (GRCm39) |
S534R |
probably damaging |
Het |
| Mapk15 |
A |
G |
15: 75,866,737 (GRCm39) |
E38G |
probably benign |
Het |
| Or9i2 |
T |
A |
19: 13,815,830 (GRCm39) |
T236S |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,528,070 (GRCm39) |
N1924K |
probably benign |
Het |
| Plekhm2 |
T |
A |
4: 141,355,617 (GRCm39) |
H861L |
probably benign |
Het |
| Pramel25 |
T |
A |
4: 143,521,602 (GRCm39) |
F406Y |
probably benign |
Het |
| Rufy4 |
A |
T |
1: 74,168,518 (GRCm39) |
K100N |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,088,496 (GRCm39) |
E879G |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,803,514 (GRCm39) |
N345S |
possibly damaging |
Het |
| Tacc2 |
C |
T |
7: 130,330,582 (GRCm39) |
P1996S |
probably benign |
Het |
| Tfcp2 |
A |
G |
15: 100,411,061 (GRCm39) |
|
probably benign |
Het |
| Trpm8 |
A |
G |
1: 88,253,210 (GRCm39) |
T100A |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,765,304 (GRCm39) |
T2507A |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,917,517 (GRCm39) |
T332A |
probably benign |
Het |
| Zfp189 |
T |
A |
4: 49,522,445 (GRCm39) |
D27E |
probably 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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation