Incidental Mutation 'R1512:Kcnh5'
| ID |
168439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnh5
|
| Ensembl Gene |
ENSMUSG00000034402 |
| Gene Name |
potassium voltage-gated channel, subfamily H (eag-related), member 5 |
| Synonyms |
|
| MMRRC Submission |
039559-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1512 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
74943994-75224106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75166711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 178
(H178L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
| AlphaFold |
Q920E3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042299
AA Change: H178L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: H178L
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
14 |
86 |
8.97e0 |
SMART |
|
PAC
|
92 |
134 |
6.64e-7 |
SMART |
|
Pfam:Ion_trans
|
214 |
479 |
1.2e-37 |
PFAM |
|
Pfam:Ion_trans_2
|
390 |
473 |
5e-14 |
PFAM |
|
cNMP
|
550 |
668 |
2.48e-15 |
SMART |
|
low complexity region
|
710 |
717 |
N/A |
INTRINSIC |
|
coiled coil region
|
907 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
953 |
968 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0865 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| Validation Efficiency |
95% (79/83) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted gene disruption display thigmotaxis and abnormal startle reflex. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,086,295 (GRCm39) |
D40E |
probably benign |
Het |
| Acsf2 |
C |
T |
11: 94,452,224 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
C |
T |
18: 59,181,917 (GRCm39) |
H1119Y |
possibly damaging |
Het |
| Akap6 |
A |
G |
12: 52,983,937 (GRCm39) |
D827G |
probably damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,367,375 (GRCm39) |
D55G |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,229,316 (GRCm39) |
H569Q |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,346,510 (GRCm39) |
D548G |
probably benign |
Het |
| Baz2a |
A |
G |
10: 127,960,021 (GRCm39) |
D1433G |
possibly damaging |
Het |
| BC031181 |
T |
G |
18: 75,141,767 (GRCm39) |
V8G |
probably damaging |
Het |
| Bicdl2 |
A |
T |
17: 23,887,083 (GRCm39) |
M457L |
probably damaging |
Het |
| C130074G19Rik |
T |
C |
1: 184,615,103 (GRCm39) |
D29G |
probably damaging |
Het |
| Cd200r1 |
A |
T |
16: 44,586,390 (GRCm39) |
T7S |
probably benign |
Het |
| Cdc37 |
A |
G |
9: 21,053,712 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,949,267 (GRCm39) |
S526P |
probably damaging |
Het |
| Cntn2 |
G |
T |
1: 132,451,430 (GRCm39) |
A433D |
probably damaging |
Het |
| Cntnap5a |
T |
C |
1: 115,828,680 (GRCm39) |
S35P |
probably benign |
Het |
| Csf3r |
A |
G |
4: 125,923,777 (GRCm39) |
T96A |
possibly damaging |
Het |
| Ctbs |
A |
G |
3: 146,160,720 (GRCm39) |
N96D |
probably benign |
Het |
| Cyp26b1 |
C |
A |
6: 84,553,979 (GRCm39) |
V213L |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,138,835 (GRCm39) |
L536P |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,179,589 (GRCm39) |
Q517R |
probably benign |
Het |
| Dnah1 |
G |
T |
14: 31,014,994 (GRCm39) |
Q1733K |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 117,985,841 (GRCm39) |
I1416N |
probably benign |
Het |
| Dock11 |
G |
A |
X: 35,283,688 (GRCm39) |
R1102H |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,971,096 (GRCm39) |
|
probably benign |
Het |
| Emc1 |
G |
A |
4: 139,087,495 (GRCm39) |
|
probably null |
Het |
| Emc8 |
A |
G |
8: 121,384,983 (GRCm39) |
L76P |
possibly damaging |
Het |
| Emx2 |
T |
C |
19: 59,448,035 (GRCm39) |
Y130H |
possibly damaging |
Het |
| Fbf1 |
C |
T |
11: 116,038,753 (GRCm39) |
R815Q |
probably damaging |
Het |
| Foxb2 |
G |
A |
19: 16,849,878 (GRCm39) |
P376L |
probably damaging |
Het |
| Gabrb1 |
C |
A |
5: 72,266,047 (GRCm39) |
L202I |
probably damaging |
Het |
| Gabrb1 |
T |
A |
5: 72,266,048 (GRCm39) |
L202Q |
probably damaging |
Het |
| Grin2c |
T |
A |
11: 115,144,676 (GRCm39) |
I617F |
probably damaging |
Het |
| Gtf2h3 |
T |
A |
5: 124,728,933 (GRCm39) |
V164E |
probably damaging |
Het |
| Gusb |
T |
C |
5: 130,029,731 (GRCm39) |
Q88R |
probably damaging |
Het |
| Hormad2 |
T |
A |
11: 4,374,788 (GRCm39) |
K75N |
probably damaging |
Het |
| Il33 |
A |
G |
19: 29,929,390 (GRCm39) |
T38A |
possibly damaging |
Het |
| Ivns1abp |
A |
T |
1: 151,236,687 (GRCm39) |
Q416L |
possibly damaging |
Het |
| Ivns1abp |
G |
C |
1: 151,236,688 (GRCm39) |
Q416H |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,080,543 (GRCm39) |
N579S |
probably benign |
Het |
| Kif26a |
G |
C |
12: 112,113,389 (GRCm39) |
R95P |
possibly damaging |
Het |
| Kl |
A |
G |
5: 150,912,062 (GRCm39) |
I604V |
probably benign |
Het |
| Klhl24 |
A |
G |
16: 19,941,686 (GRCm39) |
K545E |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,306,347 (GRCm39) |
I153M |
probably damaging |
Het |
| Meis1 |
T |
G |
11: 18,831,682 (GRCm39) |
D452A |
probably damaging |
Het |
| Msantd4 |
C |
T |
9: 4,384,138 (GRCm39) |
P153L |
probably benign |
Het |
| Myot |
A |
G |
18: 44,475,422 (GRCm39) |
E181G |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,281,195 (GRCm39) |
F150S |
probably damaging |
Het |
| Nyap2 |
T |
A |
1: 81,219,566 (GRCm39) |
S529R |
probably damaging |
Het |
| Or10d3 |
T |
C |
9: 39,461,390 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or12e10 |
A |
T |
2: 87,640,988 (GRCm39) |
T275S |
probably benign |
Het |
| Or2y1c |
A |
G |
11: 49,361,286 (GRCm39) |
I103V |
probably benign |
Het |
| Or8b56 |
T |
A |
9: 38,739,660 (GRCm39) |
Y224* |
probably null |
Het |
| Pcnt |
C |
T |
10: 76,240,496 (GRCm39) |
|
probably null |
Het |
| Pik3c3 |
T |
C |
18: 30,455,289 (GRCm39) |
|
probably null |
Het |
| Pkdcc |
A |
T |
17: 83,527,473 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Pnpla6 |
C |
A |
8: 3,585,459 (GRCm39) |
|
probably benign |
Het |
| Polr3gl |
T |
C |
3: 96,488,190 (GRCm39) |
M26V |
probably benign |
Het |
| Ppp1r13b |
T |
C |
12: 111,838,842 (GRCm39) |
N12S |
possibly damaging |
Het |
| Ppp1r26 |
G |
A |
2: 28,341,528 (GRCm39) |
R386K |
probably benign |
Het |
| Prdm10 |
A |
G |
9: 31,248,697 (GRCm39) |
E355G |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,131,554 (GRCm39) |
F41S |
possibly damaging |
Het |
| Prkar1b |
G |
T |
5: 139,036,428 (GRCm39) |
Y231* |
probably null |
Het |
| Prkdc |
A |
T |
16: 15,505,268 (GRCm39) |
I857L |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,390,425 (GRCm39) |
N10K |
probably benign |
Het |
| Rapgef3 |
A |
T |
15: 97,655,382 (GRCm39) |
V444E |
probably benign |
Het |
| Rnf17 |
A |
T |
14: 56,705,243 (GRCm39) |
T716S |
probably benign |
Het |
| Rps6ka1 |
C |
T |
4: 133,578,315 (GRCm39) |
R577H |
probably damaging |
Het |
| Scn1a |
A |
C |
2: 66,161,629 (GRCm39) |
N306K |
possibly damaging |
Het |
| Skint6 |
A |
G |
4: 113,095,329 (GRCm39) |
I110T |
probably damaging |
Het |
| Ssu2 |
A |
G |
6: 112,364,959 (GRCm39) |
M1T |
probably null |
Het |
| Stag3 |
A |
T |
5: 138,296,247 (GRCm39) |
T437S |
probably benign |
Het |
| Tal2 |
A |
G |
4: 53,786,107 (GRCm39) |
Y96C |
probably benign |
Het |
| Thoc3 |
A |
T |
13: 54,613,991 (GRCm39) |
|
probably null |
Het |
| Tle1 |
T |
C |
4: 72,059,495 (GRCm39) |
D19G |
probably damaging |
Het |
| Trpm4 |
A |
G |
7: 44,964,468 (GRCm39) |
I690T |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,853,295 (GRCm39) |
M1772L |
probably benign |
Het |
| Unc5b |
G |
A |
10: 60,667,254 (GRCm39) |
|
probably benign |
Het |
| Usf3 |
G |
T |
16: 44,041,561 (GRCm39) |
V2014F |
probably damaging |
Het |
| Utp18 |
C |
T |
11: 93,776,390 (GRCm39) |
A32T |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,682,765 (GRCm39) |
V2981A |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,079,738 (GRCm39) |
V349A |
probably damaging |
Het |
| Znfx1 |
A |
C |
2: 166,898,237 (GRCm39) |
I229S |
probably benign |
Het |
|
| Other mutations in Kcnh5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Kcnh5
|
APN |
12 |
74,944,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00675:Kcnh5
|
APN |
12 |
75,160,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00688:Kcnh5
|
APN |
12 |
74,945,171 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00721:Kcnh5
|
APN |
12 |
75,054,450 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00793:Kcnh5
|
APN |
12 |
75,161,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00802:Kcnh5
|
APN |
12 |
75,054,399 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL00920:Kcnh5
|
APN |
12 |
75,023,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01595:Kcnh5
|
APN |
12 |
74,945,101 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01642:Kcnh5
|
APN |
12 |
75,011,943 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01675:Kcnh5
|
APN |
12 |
75,161,274 (GRCm39) |
nonsense |
probably null |
|
|
IGL01733:Kcnh5
|
APN |
12 |
75,011,966 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02006:Kcnh5
|
APN |
12 |
74,944,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02075:Kcnh5
|
APN |
12 |
75,134,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02148:Kcnh5
|
APN |
12 |
74,944,426 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02155:Kcnh5
|
APN |
12 |
75,223,312 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02304:Kcnh5
|
APN |
12 |
75,023,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02957:Kcnh5
|
APN |
12 |
75,054,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0305:Kcnh5
|
UTSW |
12 |
75,161,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0470:Kcnh5
|
UTSW |
12 |
75,161,188 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0553:Kcnh5
|
UTSW |
12 |
75,184,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0557:Kcnh5
|
UTSW |
12 |
75,161,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Kcnh5
|
UTSW |
12 |
75,012,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0697:Kcnh5
|
UTSW |
12 |
75,023,305 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0699:Kcnh5
|
UTSW |
12 |
75,023,305 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1728:Kcnh5
|
UTSW |
12 |
75,184,465 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1739:Kcnh5
|
UTSW |
12 |
75,161,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Kcnh5
|
UTSW |
12 |
75,184,465 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1956:Kcnh5
|
UTSW |
12 |
74,944,358 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1957:Kcnh5
|
UTSW |
12 |
74,944,358 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2155:Kcnh5
|
UTSW |
12 |
74,945,230 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2185:Kcnh5
|
UTSW |
12 |
75,177,705 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2237:Kcnh5
|
UTSW |
12 |
75,054,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2239:Kcnh5
|
UTSW |
12 |
75,054,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2483:Kcnh5
|
UTSW |
12 |
75,161,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2655:Kcnh5
|
UTSW |
12 |
75,161,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3767:Kcnh5
|
UTSW |
12 |
75,134,350 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3835:Kcnh5
|
UTSW |
12 |
74,945,044 (GRCm39) |
missense |
probably benign |
|
|
R4681:Kcnh5
|
UTSW |
12 |
75,054,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4728:Kcnh5
|
UTSW |
12 |
75,054,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Kcnh5
|
UTSW |
12 |
75,011,925 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5127:Kcnh5
|
UTSW |
12 |
74,944,858 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5267:Kcnh5
|
UTSW |
12 |
75,134,190 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5535:Kcnh5
|
UTSW |
12 |
75,177,681 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5590:Kcnh5
|
UTSW |
12 |
75,023,463 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5684:Kcnh5
|
UTSW |
12 |
75,184,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5747:Kcnh5
|
UTSW |
12 |
74,945,194 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6123:Kcnh5
|
UTSW |
12 |
75,134,365 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6545:Kcnh5
|
UTSW |
12 |
75,054,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6662:Kcnh5
|
UTSW |
12 |
75,054,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Kcnh5
|
UTSW |
12 |
75,161,219 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7161:Kcnh5
|
UTSW |
12 |
74,944,483 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7437:Kcnh5
|
UTSW |
12 |
75,184,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7557:Kcnh5
|
UTSW |
12 |
75,054,399 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7566:Kcnh5
|
UTSW |
12 |
75,161,166 (GRCm39) |
nonsense |
probably null |
|
|
R7591:Kcnh5
|
UTSW |
12 |
75,054,541 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7781:Kcnh5
|
UTSW |
12 |
75,023,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7816:Kcnh5
|
UTSW |
12 |
75,023,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Kcnh5
|
UTSW |
12 |
74,944,633 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8390:Kcnh5
|
UTSW |
12 |
75,134,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8560:Kcnh5
|
UTSW |
12 |
75,023,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9056:Kcnh5
|
UTSW |
12 |
74,944,774 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9064:Kcnh5
|
UTSW |
12 |
75,177,727 (GRCm39) |
nonsense |
probably null |
|
|
R9283:Kcnh5
|
UTSW |
12 |
75,023,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Kcnh5
|
UTSW |
12 |
75,023,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9552:Kcnh5
|
UTSW |
12 |
75,023,334 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9576:Kcnh5
|
UTSW |
12 |
74,944,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9627:Kcnh5
|
UTSW |
12 |
75,160,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9645:Kcnh5
|
UTSW |
12 |
75,134,191 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9650:Kcnh5
|
UTSW |
12 |
75,023,293 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1088:Kcnh5
|
UTSW |
12 |
75,012,069 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1088:Kcnh5
|
UTSW |
12 |
74,944,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Kcnh5
|
UTSW |
12 |
75,161,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnh5
|
UTSW |
12 |
75,054,571 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATGAACTACATCTCCATGCAAAAGT -3'
(R):5'- AGTATCTACCTTGACTACTGGGACTGC -3'
Sequencing Primer
(F):5'- ggtaggtaggtaggtaggtagg -3'
(R):5'- CCTTGACTACTGGGACTGCATAATAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation