Incidental Mutation 'R0557:Kcnh5'
| ID |
45663 |
| 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 |
038749-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0557 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
74943994-75224106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75161323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 195
(Y195F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
| AlphaFold |
Q920E3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042299
AA Change: Y195F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: Y195F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| 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 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,903,519 (GRCm39) |
H266Y |
probably damaging |
Het |
| Abi3bp |
C |
T |
16: 56,488,750 (GRCm39) |
R1294C |
probably damaging |
Het |
| Acot3 |
T |
C |
12: 84,105,630 (GRCm39) |
Y366H |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,353,817 (GRCm39) |
V254A |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,979,308 (GRCm39) |
D197E |
probably benign |
Het |
| Aldh1b1 |
A |
T |
4: 45,802,647 (GRCm39) |
T62S |
probably benign |
Het |
| Alox12e |
T |
C |
11: 70,212,274 (GRCm39) |
R135G |
possibly damaging |
Het |
| Amn1 |
T |
C |
6: 149,072,503 (GRCm39) |
Y78C |
possibly damaging |
Het |
| Ankmy2 |
G |
A |
12: 36,237,765 (GRCm39) |
S288N |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,693,297 (GRCm39) |
|
probably null |
Het |
| Arfgap3 |
T |
C |
15: 83,187,386 (GRCm39) |
D491G |
probably damaging |
Het |
| Arhgap15 |
T |
C |
2: 44,006,629 (GRCm39) |
S249P |
possibly damaging |
Het |
| Atp9b |
A |
G |
18: 80,809,137 (GRCm39) |
V211A |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,562,751 (GRCm39) |
Y12H |
probably damaging |
Het |
| Cdkn2aip |
T |
C |
8: 48,165,977 (GRCm39) |
T110A |
probably damaging |
Het |
| Cemip2 |
C |
T |
19: 21,789,267 (GRCm39) |
A567V |
probably benign |
Het |
| Chchd6 |
A |
G |
6: 89,551,569 (GRCm39) |
S31P |
probably damaging |
Het |
| Chrna3 |
A |
G |
9: 54,923,149 (GRCm39) |
Y220H |
probably damaging |
Het |
| Ctu1 |
A |
G |
7: 43,326,583 (GRCm39) |
D414G |
unknown |
Het |
| Cxxc1 |
C |
T |
18: 74,351,845 (GRCm39) |
R241W |
possibly damaging |
Het |
| Cyp3a16 |
A |
G |
5: 145,406,398 (GRCm39) |
I18T |
unknown |
Het |
| Dip2c |
A |
T |
13: 9,603,495 (GRCm39) |
I405F |
possibly damaging |
Het |
| Disp3 |
A |
T |
4: 148,325,861 (GRCm39) |
M1299K |
possibly damaging |
Het |
| Dnah9 |
T |
G |
11: 65,975,492 (GRCm39) |
H1519P |
probably damaging |
Het |
| Ehd3 |
C |
A |
17: 74,136,928 (GRCm39) |
Q366K |
probably benign |
Het |
| Exosc3 |
A |
T |
4: 45,316,957 (GRCm39) |
M232K |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,165,216 (GRCm39) |
|
probably null |
Het |
| Fgfr2 |
A |
G |
7: 129,820,811 (GRCm39) |
V241A |
probably damaging |
Het |
| Gdf2 |
C |
T |
14: 33,663,178 (GRCm39) |
P24L |
probably damaging |
Het |
| Hars2 |
T |
C |
18: 36,924,130 (GRCm39) |
I489T |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,749,310 (GRCm39) |
I1945V |
probably benign |
Het |
| Il33 |
A |
C |
19: 29,932,036 (GRCm39) |
N143T |
probably damaging |
Het |
| Ilvbl |
G |
A |
10: 78,419,321 (GRCm39) |
W313* |
probably null |
Het |
| Insyn2a |
A |
G |
7: 134,520,434 (GRCm39) |
L32P |
probably damaging |
Het |
| Isca1 |
G |
T |
13: 59,904,788 (GRCm39) |
Q91K |
possibly damaging |
Het |
| Lama4 |
T |
G |
10: 38,964,393 (GRCm39) |
I1355S |
probably benign |
Het |
| Lonrf1 |
T |
C |
8: 36,697,574 (GRCm39) |
D470G |
probably benign |
Het |
| Mak |
A |
G |
13: 41,193,135 (GRCm39) |
Y446H |
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,300,990 (GRCm39) |
S1348N |
possibly damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,977,806 (GRCm39) |
Y138C |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,192,624 (GRCm39) |
L1501P |
possibly damaging |
Het |
| Naa35 |
A |
G |
13: 59,775,778 (GRCm39) |
E552G |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,183,369 (GRCm39) |
L200* |
probably null |
Het |
| Nrm |
T |
C |
17: 36,175,524 (GRCm39) |
V210A |
probably damaging |
Het |
| Nt5e |
T |
A |
9: 88,248,519 (GRCm39) |
N405K |
probably damaging |
Het |
| Or1j4 |
T |
A |
2: 36,740,760 (GRCm39) |
I234N |
possibly damaging |
Het |
| Or1o11 |
T |
A |
17: 37,756,712 (GRCm39) |
I100N |
probably damaging |
Het |
| Orc2 |
T |
C |
1: 58,508,846 (GRCm39) |
S434G |
probably damaging |
Het |
| Plcb4 |
G |
A |
2: 135,796,269 (GRCm39) |
V388I |
probably damaging |
Het |
| Ppm1l |
A |
G |
3: 69,405,234 (GRCm39) |
D177G |
probably benign |
Het |
| Prl8a2 |
A |
T |
13: 27,536,875 (GRCm39) |
R165* |
probably null |
Het |
| Ptbp3 |
G |
A |
4: 59,517,684 (GRCm39) |
R66* |
probably null |
Het |
| Pten |
A |
G |
19: 32,795,290 (GRCm39) |
T286A |
probably benign |
Het |
| Rac2 |
C |
T |
15: 78,449,174 (GRCm39) |
V113M |
probably damaging |
Het |
| Rai1 |
C |
T |
11: 60,081,321 (GRCm39) |
T1795I |
probably benign |
Het |
| Ros1 |
T |
G |
10: 51,961,359 (GRCm39) |
K1792Q |
possibly damaging |
Het |
| Sema6a |
A |
G |
18: 47,382,567 (GRCm39) |
V660A |
probably benign |
Het |
| Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
| Slc26a5 |
A |
G |
5: 22,024,762 (GRCm39) |
S441P |
probably damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,294,163 (GRCm39) |
L462P |
probably damaging |
Het |
| Spag5 |
T |
A |
11: 78,205,037 (GRCm39) |
S607R |
probably damaging |
Het |
| Spata18 |
A |
T |
5: 73,809,013 (GRCm39) |
N29Y |
probably damaging |
Het |
| Spata20 |
C |
T |
11: 94,376,048 (GRCm39) |
R22H |
probably benign |
Het |
| Spsb2 |
A |
C |
6: 124,787,355 (GRCm39) |
Y263S |
probably damaging |
Het |
| Sptbn4 |
C |
A |
7: 27,107,753 (GRCm39) |
E885* |
probably null |
Het |
| Syne2 |
T |
C |
12: 75,976,075 (GRCm39) |
I1175T |
probably benign |
Het |
| Tmem209 |
A |
C |
6: 30,501,913 (GRCm39) |
H253Q |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,702,468 (GRCm39) |
D788E |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,353,848 (GRCm39) |
S1509P |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,584,173 (GRCm39) |
D2661E |
probably damaging |
Het |
| Vars1 |
C |
A |
17: 35,223,960 (GRCm39) |
P264Q |
possibly damaging |
Het |
| Vmn2r66 |
T |
G |
7: 84,643,972 (GRCm39) |
S813R |
probably damaging |
Het |
| Wipf2 |
C |
A |
11: 98,782,915 (GRCm39) |
Q114K |
possibly damaging |
Het |
| Wnt5b |
G |
T |
6: 119,410,779 (GRCm39) |
H220Q |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,695 (GRCm39) |
T2979A |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,531,708 (GRCm39) |
V408A |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,808,556 (GRCm39) |
S2744P |
probably damaging |
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 |
|
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 |
|
R1512:Kcnh5
|
UTSW |
12 |
75,166,711 (GRCm39) |
missense |
probably benign |
|
|
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'- TCGGGTCAGAAATGACCTCTCCAC -3'
(R):5'- TCCTTCGAGCAAACTTTGGGGCAG -3'
Sequencing Primer
(F):5'- GGCCCCACAAAAGTCGTG -3'
(R):5'- CAAACTTTGGGGCAGTTCGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation