Incidental Mutation 'R5267:Kcnh5'
| ID |
401795 |
| 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 |
042859-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5267 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
74943994-75224106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75134190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 453
(M453K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
| AlphaFold |
Q920E3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042299
AA Change: M453K
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: M453K
| 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 |
0.9396 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
98% (86/88) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,374,933 (GRCm39) |
|
probably benign |
Het |
| Adam15 |
T |
G |
3: 89,257,206 (GRCm39) |
|
probably benign |
Het |
| Albfm1 |
T |
C |
5: 90,732,716 (GRCm39) |
F509S |
probably damaging |
Het |
| Atp12a |
T |
C |
14: 56,621,668 (GRCm39) |
S768P |
probably damaging |
Het |
| Atp8a1 |
G |
A |
5: 67,919,887 (GRCm39) |
T393I |
probably damaging |
Het |
| B4galnt4 |
T |
G |
7: 140,650,524 (GRCm39) |
I3S |
probably damaging |
Het |
| Bfsp1 |
G |
A |
2: 143,668,971 (GRCm39) |
T536I |
probably benign |
Het |
| Brsk1 |
G |
T |
7: 4,707,708 (GRCm39) |
W284L |
probably damaging |
Het |
| Cadm3 |
A |
T |
1: 173,164,669 (GRCm39) |
D370E |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,626,667 (GRCm39) |
I207T |
possibly damaging |
Het |
| Calr4 |
A |
C |
4: 109,101,273 (GRCm39) |
T52P |
probably damaging |
Het |
| Catsperg2 |
G |
A |
7: 29,416,491 (GRCm39) |
T307M |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,422,097 (GRCm39) |
N1166K |
probably null |
Het |
| Clca4a |
G |
A |
3: 144,659,573 (GRCm39) |
T761I |
probably damaging |
Het |
| Cnksr3 |
A |
T |
10: 7,076,633 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
A |
G |
14: 86,893,989 (GRCm39) |
S7P |
probably benign |
Het |
| Dnah7a |
G |
A |
1: 53,518,851 (GRCm39) |
P2969S |
probably damaging |
Het |
| Dnai2 |
A |
T |
11: 114,631,293 (GRCm39) |
T221S |
probably benign |
Het |
| Dsc2 |
A |
G |
18: 20,167,640 (GRCm39) |
|
probably null |
Het |
| Eif4g1 |
A |
G |
16: 20,504,283 (GRCm39) |
N789S |
probably damaging |
Het |
| Fn1 |
C |
T |
1: 71,668,863 (GRCm39) |
R694H |
probably damaging |
Het |
| Gm5478 |
G |
A |
15: 101,552,837 (GRCm39) |
R365C |
probably damaging |
Het |
| Gm5591 |
A |
T |
7: 38,218,338 (GRCm39) |
M845K |
possibly damaging |
Het |
| Gm5800 |
A |
T |
14: 51,951,294 (GRCm39) |
|
probably null |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| H2-Q2 |
A |
T |
17: 35,562,155 (GRCm39) |
Y134F |
probably benign |
Het |
| Hcfc1r1 |
A |
G |
17: 23,893,648 (GRCm39) |
R76G |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,482,887 (GRCm39) |
I3146T |
probably benign |
Het |
| Herc1 |
G |
T |
9: 66,369,091 (GRCm39) |
L2928F |
probably damaging |
Het |
| Hmx3 |
C |
T |
7: 131,145,898 (GRCm39) |
A202V |
probably benign |
Het |
| Ikzf3 |
A |
T |
11: 98,381,406 (GRCm39) |
M58K |
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,625,107 (GRCm39) |
T129A |
probably damaging |
Het |
| Il21 |
T |
C |
3: 37,281,946 (GRCm39) |
H66R |
probably benign |
Het |
| Kdf1 |
C |
G |
4: 133,256,258 (GRCm39) |
A325G |
probably damaging |
Het |
| Klhl10 |
C |
T |
11: 100,338,047 (GRCm39) |
A262V |
probably benign |
Het |
| Krt81 |
T |
A |
15: 101,357,340 (GRCm39) |
N464I |
probably benign |
Het |
| Ksr1 |
A |
T |
11: 78,911,251 (GRCm39) |
I698N |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,379,322 (GRCm39) |
V130A |
possibly damaging |
Het |
| Mcm2 |
T |
C |
6: 88,874,432 (GRCm39) |
T25A |
probably benign |
Het |
| Mrps18c |
T |
A |
5: 100,950,960 (GRCm39) |
Y93* |
probably null |
Het |
| Mycl |
C |
T |
4: 122,894,289 (GRCm39) |
A363V |
probably damaging |
Het |
| Mylk2 |
C |
A |
2: 152,755,469 (GRCm39) |
A211E |
probably benign |
Het |
| Myo5a |
G |
A |
9: 75,059,292 (GRCm39) |
D507N |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,131,787 (GRCm39) |
F470L |
probably damaging |
Het |
| Oas1a |
A |
T |
5: 121,037,284 (GRCm39) |
C248S |
probably benign |
Het |
| Or2ag2b |
T |
C |
7: 106,418,015 (GRCm39) |
S242P |
probably damaging |
Het |
| Or4c15b |
C |
T |
2: 89,112,574 (GRCm39) |
W301* |
probably null |
Het |
| Or51aa2 |
T |
C |
7: 103,188,031 (GRCm39) |
I137V |
probably benign |
Het |
| Or5b116 |
A |
G |
19: 13,422,475 (GRCm39) |
Y33C |
probably damaging |
Het |
| Or5m9b |
T |
A |
2: 85,905,882 (GRCm39) |
V266E |
probably benign |
Het |
| Or5p67 |
A |
G |
7: 107,922,185 (GRCm39) |
S233P |
probably damaging |
Het |
| Or8d1 |
G |
A |
9: 38,767,101 (GRCm39) |
V248M |
probably damaging |
Het |
| Otub1 |
C |
A |
19: 7,177,357 (GRCm39) |
G67C |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Paqr8 |
A |
G |
1: 21,004,920 (GRCm39) |
I25V |
probably benign |
Het |
| Pcdh1 |
A |
G |
18: 38,325,252 (GRCm39) |
Y897H |
probably damaging |
Het |
| Pde4d |
T |
G |
13: 109,397,343 (GRCm39) |
|
probably benign |
Het |
| Pdzd8 |
C |
A |
19: 59,289,458 (GRCm39) |
K647N |
probably damaging |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Praf2 |
T |
C |
X: 7,596,641 (GRCm39) |
|
probably benign |
Het |
| Pramel29 |
A |
T |
4: 143,939,575 (GRCm39) |
|
probably benign |
Het |
| Psg25 |
A |
T |
7: 18,258,711 (GRCm39) |
Y322N |
possibly damaging |
Het |
| Rxrg |
A |
G |
1: 167,463,335 (GRCm39) |
E402G |
probably damaging |
Het |
| Selenok |
T |
A |
14: 29,692,022 (GRCm39) |
V20E |
probably benign |
Het |
| Sipa1 |
G |
A |
19: 5,705,786 (GRCm39) |
T394I |
probably benign |
Het |
| Spag17 |
A |
T |
3: 99,969,264 (GRCm39) |
N1247I |
probably damaging |
Het |
| Spata31d1c |
A |
G |
13: 65,183,718 (GRCm39) |
D420G |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,795,962 (GRCm39) |
K519R |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,985,515 (GRCm39) |
E1654D |
possibly damaging |
Het |
| Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,379,601 (GRCm39) |
E941V |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,972,797 (GRCm39) |
T548A |
probably damaging |
Het |
| Tube1 |
C |
A |
10: 39,020,552 (GRCm39) |
D210E |
probably benign |
Het |
| Vmn1r183 |
T |
A |
7: 23,754,971 (GRCm39) |
I258N |
possibly damaging |
Het |
| Vmn1r89 |
A |
T |
7: 12,954,140 (GRCm39) |
N292I |
probably damaging |
Het |
| Vmp1 |
C |
A |
11: 86,554,377 (GRCm39) |
V79L |
probably benign |
Het |
| Zfp182 |
T |
A |
X: 20,902,605 (GRCm39) |
D125V |
possibly damaging |
Het |
| Zfp975 |
T |
G |
7: 42,311,654 (GRCm39) |
T320P |
probably damaging |
Het |
| Znrf1 |
G |
A |
8: 112,263,899 (GRCm39) |
A43T |
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 |
|
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 |
|
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'- ATCGCAGACTTCCCAATCTG -3'
(R):5'- ATTGGGACCCCATATCGCTAC -3'
Sequencing Primer
(F):5'- CACACAGTTTTTCATGTGCTAATGC -3'
(R):5'- TATCGCTACAATACGAGTGCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation