Incidental Mutation 'R8152:Kcnh5'
| ID |
633027 |
| 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 |
067578-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8152 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
74943994-75224106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74944633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 872
(D872G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
| AlphaFold |
Q920E3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042299
AA Change: D872G
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: D872G
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 92.4%
|
| Validation Efficiency |
99% (74/75) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,044,305 (GRCm39) |
L195P |
probably damaging |
Het |
| Adgrb1 |
T |
C |
15: 74,413,460 (GRCm39) |
V548A |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,416,849 (GRCm39) |
I752T |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,260,838 (GRCm39) |
|
probably null |
Het |
| Adh6a |
G |
T |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Aldh18a1 |
A |
G |
19: 40,553,456 (GRCm39) |
S431P |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,124,410 (GRCm39) |
R310G |
possibly damaging |
Het |
| Atad5 |
T |
C |
11: 79,985,996 (GRCm39) |
V361A |
possibly damaging |
Het |
| Atp8a1 |
C |
A |
5: 67,919,925 (GRCm39) |
M380I |
|
Het |
| Calcrl |
C |
T |
2: 84,169,593 (GRCm39) |
V363M |
possibly damaging |
Het |
| Camsap1 |
G |
T |
2: 25,830,253 (GRCm39) |
D490E |
probably damaging |
Het |
| Cd72 |
T |
A |
4: 43,452,601 (GRCm39) |
I131F |
possibly damaging |
Het |
| Cdh2 |
C |
T |
18: 16,762,576 (GRCm39) |
G513D |
probably benign |
Het |
| Cela1 |
T |
C |
15: 100,580,822 (GRCm39) |
T145A |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,811,227 (GRCm39) |
T358A |
probably benign |
Het |
| Cfap99 |
C |
T |
5: 34,480,735 (GRCm39) |
R462C |
probably damaging |
Het |
| Cmtm1 |
A |
G |
8: 105,036,573 (GRCm39) |
S19P |
possibly damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,945 (GRCm39) |
M2098K |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,532,860 (GRCm39) |
|
probably null |
Het |
| Ctsm |
C |
G |
13: 61,687,463 (GRCm39) |
V100L |
probably benign |
Het |
| Cyp2c67 |
C |
A |
19: 39,628,452 (GRCm39) |
C164F |
probably benign |
Het |
| Cyp2d11 |
T |
C |
15: 82,276,688 (GRCm39) |
I84V |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,195,529 (GRCm39) |
D389G |
probably damaging |
Het |
| Dctd |
A |
G |
8: 48,564,725 (GRCm39) |
D9G |
probably benign |
Het |
| Fam221a |
C |
A |
6: 49,355,490 (GRCm39) |
F197L |
probably damaging |
Het |
| Fbxl4 |
T |
G |
4: 22,427,225 (GRCm39) |
C489G |
possibly damaging |
Het |
| Fmn1 |
C |
T |
2: 113,196,037 (GRCm39) |
T579M |
unknown |
Het |
| Fndc3a |
G |
A |
14: 72,811,820 (GRCm39) |
L337F |
probably damaging |
Het |
| Frmpd2 |
A |
G |
14: 33,265,244 (GRCm39) |
|
probably null |
Het |
| Gdnf |
C |
T |
15: 7,864,243 (GRCm39) |
S218L |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,293,266 (GRCm39) |
F444L |
probably damaging |
Het |
| Gk5 |
A |
T |
9: 96,056,756 (GRCm39) |
D391V |
probably damaging |
Het |
| Gys2 |
T |
C |
6: 142,373,136 (GRCm39) |
T612A |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,459,063 (GRCm39) |
D738G |
probably benign |
Het |
| Isx |
T |
C |
8: 75,616,627 (GRCm39) |
F85L |
probably damaging |
Het |
| Kif26b |
T |
G |
1: 178,506,794 (GRCm39) |
V290G |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,809,523 (GRCm39) |
C429R |
probably damaging |
Het |
| Loxhd1 |
A |
C |
18: 77,476,095 (GRCm39) |
I1121L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,453,902 (GRCm39) |
F931L |
probably benign |
Het |
| Mepce |
T |
C |
5: 137,782,935 (GRCm39) |
I464V |
probably benign |
Het |
| Mpo |
G |
T |
11: 87,692,475 (GRCm39) |
V538L |
probably benign |
Het |
| Mtarc2 |
T |
A |
1: 184,573,509 (GRCm39) |
M130L |
possibly damaging |
Het |
| Mtrex |
T |
A |
13: 113,009,517 (GRCm39) |
K961* |
probably null |
Het |
| Myom1 |
T |
C |
17: 71,391,290 (GRCm39) |
V933A |
probably damaging |
Het |
| Nckap1l |
T |
G |
15: 103,386,957 (GRCm39) |
|
probably null |
Het |
| Ncmap |
C |
A |
4: 135,104,375 (GRCm39) |
M19I |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,073,848 (GRCm39) |
I5920F |
probably benign |
Het |
| Nnt |
C |
T |
13: 119,511,212 (GRCm39) |
V355I |
probably benign |
Het |
| Nr1i2 |
C |
T |
16: 38,073,326 (GRCm39) |
G217S |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,458,180 (GRCm39) |
R2098G |
possibly damaging |
Het |
| Parp4 |
A |
G |
14: 56,884,703 (GRCm39) |
T1261A |
probably benign |
Het |
| Pcgf3 |
A |
T |
5: 108,635,723 (GRCm39) |
N131I |
probably benign |
Het |
| Plcb2 |
C |
T |
2: 118,541,302 (GRCm39) |
D1012N |
probably benign |
Het |
| Plcl2 |
T |
C |
17: 50,914,689 (GRCm39) |
I566T |
probably damaging |
Het |
| Plekha1 |
G |
A |
7: 130,510,102 (GRCm39) |
A283T |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,567,079 (GRCm39) |
M77L |
possibly damaging |
Het |
| Rhbdl2 |
A |
T |
4: 123,718,711 (GRCm39) |
I222L |
probably benign |
Het |
| Rnh1 |
A |
C |
7: 140,740,617 (GRCm39) |
V446G |
probably damaging |
Het |
| Sash1 |
C |
T |
10: 8,626,805 (GRCm39) |
R193H |
possibly damaging |
Het |
| Sgf29 |
G |
T |
7: 126,271,826 (GRCm39) |
V284L |
possibly damaging |
Het |
| Slc12a3 |
G |
A |
8: 95,057,012 (GRCm39) |
G95D |
probably benign |
Het |
| Slc17a7 |
T |
C |
7: 44,819,714 (GRCm39) |
V172A |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,045,510 (GRCm39) |
V1556A |
probably benign |
Het |
| Tex15 |
G |
A |
8: 34,062,921 (GRCm39) |
E784K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,673,132 (GRCm39) |
E11224G |
unknown |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Zdbf2 |
C |
T |
1: 63,345,572 (GRCm39) |
T1317I |
possibly damaging |
Het |
| Zfat |
C |
T |
15: 67,973,355 (GRCm39) |
A1147T |
probably benign |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zhx3 |
T |
G |
2: 160,622,695 (GRCm39) |
I491L |
probably benign |
Het |
| Zranb3 |
T |
C |
1: 127,882,732 (GRCm39) |
D1061G |
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 |
|
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 |
|
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 |
|
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'- CTTTTCCAGGGCAGTCATTCTG -3'
(R):5'- ATGTCTCAAGGTCAACAGCCC -3'
Sequencing Primer
(F):5'- TTGACTTCCTGCAGTGTG -3'
(R):5'- TGGCTGAGACTCAAGAACAAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation