Incidental Mutation 'IGL01860:Kcnc1'
| ID |
178290 |
| 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 # |
IGL01860
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46045921-46088128 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46077554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 452
(L452P)
|
| 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: L452P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025202
Gene: ENSMUSG00000058975
AA Change: L452P
| 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: L452P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975
AA Change: L452P
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,853,914 (GRCm39) |
N248Y |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,868,023 (GRCm39) |
V128M |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,566,175 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,224,621 (GRCm39) |
M1405K |
probably damaging |
Het |
| Atp6v1a |
G |
T |
16: 43,920,319 (GRCm39) |
L426M |
probably damaging |
Het |
| Calhm6 |
A |
G |
10: 34,002,561 (GRCm39) |
V174A |
probably damaging |
Het |
| Cdc123 |
A |
G |
2: 5,808,752 (GRCm39) |
|
probably benign |
Het |
| Cept1 |
A |
G |
3: 106,438,444 (GRCm39) |
|
probably benign |
Het |
| Cipc |
T |
A |
12: 87,007,047 (GRCm39) |
D60E |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,581,747 (GRCm39) |
S30P |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,659 (GRCm39) |
I121T |
probably benign |
Het |
| Fbln5 |
A |
G |
12: 101,776,128 (GRCm39) |
Y89H |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 25,030,738 (GRCm39) |
F128L |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,037,005 (GRCm39) |
I154N |
probably damaging |
Het |
| Fpgt |
T |
C |
3: 154,792,483 (GRCm39) |
T515A |
probably benign |
Het |
| Gas2l2 |
G |
A |
11: 83,312,906 (GRCm39) |
T802I |
probably benign |
Het |
| Gm10710 |
T |
A |
3: 83,035,156 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,861,417 (GRCm39) |
M1051T |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,115,909 (GRCm39) |
V849A |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,938,738 (GRCm39) |
I579V |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,197,787 (GRCm39) |
I609V |
probably benign |
Het |
| Itgam |
C |
A |
7: 127,670,115 (GRCm39) |
Q136K |
probably benign |
Het |
| Ltbp4 |
T |
A |
7: 27,019,071 (GRCm39) |
T1083S |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,686 (GRCm39) |
I1449M |
probably damaging |
Het |
| Nalf1 |
A |
T |
8: 9,257,831 (GRCm39) |
V439E |
probably damaging |
Het |
| P2rx5 |
T |
A |
11: 73,056,385 (GRCm39) |
V103E |
probably damaging |
Het |
| Pals1 |
T |
C |
12: 78,877,681 (GRCm39) |
V531A |
possibly damaging |
Het |
| Pappa |
A |
G |
4: 65,123,329 (GRCm39) |
D888G |
possibly damaging |
Het |
| Pcdhb21 |
G |
T |
18: 37,647,958 (GRCm39) |
M362I |
probably benign |
Het |
| Pde1a |
A |
G |
2: 79,705,628 (GRCm39) |
S333P |
probably damaging |
Het |
| Ppm1j |
A |
G |
3: 104,691,408 (GRCm39) |
T299A |
probably damaging |
Het |
| Pramel46 |
G |
A |
5: 95,418,510 (GRCm39) |
T162I |
probably benign |
Het |
| Ptdss2 |
A |
G |
7: 140,732,749 (GRCm39) |
E168G |
probably damaging |
Het |
| Rspry1 |
A |
G |
8: 95,376,444 (GRCm39) |
N322S |
probably benign |
Het |
| Slc7a9 |
T |
A |
7: 35,156,485 (GRCm39) |
V309E |
probably damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,003,548 (GRCm39) |
|
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,634,227 (GRCm39) |
M103K |
probably damaging |
Het |
| Tbxas1 |
T |
A |
6: 38,925,561 (GRCm39) |
F59I |
probably damaging |
Het |
| Tfpi |
A |
G |
2: 84,274,378 (GRCm39) |
S203P |
probably benign |
Het |
| Tram2 |
T |
C |
1: 21,074,083 (GRCm39) |
N285S |
possibly damaging |
Het |
| Trio |
T |
A |
15: 27,846,896 (GRCm39) |
D980V |
probably damaging |
Het |
| Trpv5 |
T |
A |
6: 41,637,229 (GRCm39) |
H419L |
probably damaging |
Het |
| Usp28 |
C |
T |
9: 48,943,543 (GRCm39) |
R361* |
probably null |
Het |
| Vmn1r6 |
T |
A |
6: 56,979,674 (GRCm39) |
L112* |
probably null |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,025 (GRCm39) |
N179K |
probably benign |
Het |
| Vmn2r82 |
G |
T |
10: 79,214,691 (GRCm39) |
A225S |
probably benign |
Het |
| Zcchc4 |
A |
G |
5: 52,965,698 (GRCm39) |
Y334C |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,610,116 (GRCm39) |
E949G |
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 |
|
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 |
|
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