Incidental Mutation 'R7161:Kcnh5'
| ID |
557599 |
| 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 |
045260-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7161 (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 A
at 74944483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 922
(Q922L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
| AlphaFold |
Q920E3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042299
AA Change: Q922L
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: Q922L
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,964,968 (GRCm39) |
Q443L |
probably benign |
Het |
| Acad12 |
A |
T |
5: 121,745,436 (GRCm39) |
M285K |
probably damaging |
Het |
| Afdn |
T |
A |
17: 14,109,208 (GRCm39) |
M1592K |
possibly damaging |
Het |
| Bpifb9b |
A |
T |
2: 154,155,535 (GRCm39) |
T345S |
possibly damaging |
Het |
| Bub1b |
A |
G |
2: 118,456,534 (GRCm39) |
E526G |
probably damaging |
Het |
| Car13 |
A |
G |
3: 14,710,268 (GRCm39) |
D70G |
probably benign |
Het |
| Castor2 |
C |
A |
5: 134,164,029 (GRCm39) |
T75N |
probably damaging |
Het |
| Ccdc127 |
A |
T |
13: 74,500,996 (GRCm39) |
L4F |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ccr10 |
A |
G |
11: 101,065,104 (GRCm39) |
I142T |
probably benign |
Het |
| Cep126 |
C |
T |
9: 8,087,400 (GRCm39) |
V1005M |
probably benign |
Het |
| Chil6 |
A |
G |
3: 106,301,728 (GRCm39) |
I124T |
probably benign |
Het |
| Coq8a |
A |
G |
1: 179,997,906 (GRCm39) |
|
probably null |
Het |
| Ctf2 |
T |
A |
7: 127,318,476 (GRCm39) |
K174N |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,844,209 (GRCm39) |
V76A |
possibly damaging |
Het |
| Disp1 |
A |
G |
1: 182,869,189 (GRCm39) |
M1077T |
possibly damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dnah9 |
T |
A |
11: 65,746,198 (GRCm39) |
K3972* |
probably null |
Het |
| Dnai4 |
G |
A |
4: 102,953,813 (GRCm39) |
P129S |
probably benign |
Het |
| Dusp7 |
T |
A |
9: 106,246,114 (GRCm39) |
S40T |
unknown |
Het |
| Emg1 |
T |
C |
6: 124,682,712 (GRCm39) |
T88A |
probably benign |
Het |
| Fbxo5 |
A |
G |
10: 5,752,043 (GRCm39) |
V190A |
possibly damaging |
Het |
| Fbxw20 |
T |
G |
9: 109,055,048 (GRCm39) |
D167A |
probably damaging |
Het |
| Fes |
A |
T |
7: 80,030,609 (GRCm39) |
V562E |
probably damaging |
Het |
| Foxj1 |
C |
G |
11: 116,223,234 (GRCm39) |
G190R |
probably damaging |
Het |
| Gdf15 |
T |
G |
8: 71,083,992 (GRCm39) |
S91R |
possibly damaging |
Het |
| Gm4846 |
C |
A |
1: 166,314,579 (GRCm39) |
V355F |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,144,194 (GRCm39) |
Y776N |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,242,030 (GRCm39) |
R588H |
probably damaging |
Het |
| Igkv6-25 |
T |
A |
6: 70,192,762 (GRCm39) |
Y56* |
probably null |
Het |
| Itpr1 |
C |
T |
6: 108,363,601 (GRCm39) |
A741V |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,103,677 (GRCm39) |
I519K |
probably benign |
Het |
| Kiss1r |
T |
C |
10: 79,755,323 (GRCm39) |
Y103H |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,266 (GRCm39) |
E989G |
possibly damaging |
Het |
| Lamc1 |
A |
T |
1: 153,102,200 (GRCm39) |
L1466Q |
probably damaging |
Het |
| Lap3 |
C |
T |
5: 45,655,809 (GRCm39) |
P138L |
probably benign |
Het |
| Lhx1 |
G |
A |
11: 84,410,698 (GRCm39) |
P300S |
probably damaging |
Het |
| Mppe1 |
G |
A |
18: 67,362,842 (GRCm39) |
A131V |
probably benign |
Het |
| Neb |
A |
T |
2: 52,161,604 (GRCm39) |
Y2063N |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,708,546 (GRCm39) |
F740L |
probably benign |
Het |
| Nop10 |
A |
G |
2: 112,092,391 (GRCm39) |
N8S |
probably benign |
Het |
| Opalin |
T |
A |
19: 41,058,374 (GRCm39) |
T20S |
possibly damaging |
Het |
| Or8h7 |
A |
C |
2: 86,720,993 (GRCm39) |
H175Q |
probably benign |
Het |
| Pask |
C |
T |
1: 93,238,627 (GRCm39) |
S1286N |
probably benign |
Het |
| Pcdhgc4 |
A |
T |
18: 37,948,716 (GRCm39) |
E44V |
probably damaging |
Het |
| Pde1a |
A |
G |
2: 79,695,558 (GRCm39) |
M463T |
probably benign |
Het |
| Pde6a |
A |
T |
18: 61,414,596 (GRCm39) |
M714L |
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 133,033,850 (GRCm39) |
E1618G |
probably damaging |
Het |
| Pou2f3 |
T |
C |
9: 43,050,658 (GRCm39) |
N234S |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 67,116,622 (GRCm39) |
T886S |
probably benign |
Het |
| Rab11fip3 |
C |
A |
17: 26,288,064 (GRCm39) |
D30Y |
probably benign |
Het |
| Rassf10 |
A |
T |
7: 112,553,707 (GRCm39) |
I103F |
probably damaging |
Het |
| Rfc4 |
A |
G |
16: 22,934,183 (GRCm39) |
I206T |
probably benign |
Het |
| Rhcg |
A |
G |
7: 79,267,189 (GRCm39) |
F29S |
probably damaging |
Het |
| Sec11c |
A |
G |
18: 65,945,803 (GRCm39) |
I89V |
probably benign |
Het |
| Serac1 |
T |
C |
17: 6,115,351 (GRCm39) |
D204G |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,200,892 (GRCm39) |
N175S |
probably null |
Het |
| Slc25a19 |
C |
T |
11: 115,507,373 (GRCm39) |
E250K |
possibly damaging |
Het |
| Slc9a8 |
A |
T |
2: 167,307,303 (GRCm39) |
Y329F |
possibly damaging |
Het |
| Smagp |
T |
C |
15: 100,534,126 (GRCm39) |
|
probably benign |
Het |
| Spats1 |
T |
A |
17: 45,760,095 (GRCm39) |
Q268H |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,717,689 (GRCm39) |
T219A |
probably benign |
Het |
| Spink13 |
A |
G |
18: 62,748,026 (GRCm39) |
M11T |
probably benign |
Het |
| Susd1 |
T |
C |
4: 59,329,581 (GRCm39) |
D669G |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,128,859 (GRCm39) |
Y613H |
possibly damaging |
Het |
| Tcp10b |
T |
C |
17: 13,300,633 (GRCm39) |
*439Q |
probably null |
Het |
| Tmed2 |
T |
A |
5: 124,684,983 (GRCm39) |
M133K |
possibly damaging |
Het |
| Trpv5 |
A |
T |
6: 41,637,470 (GRCm39) |
Y370* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,642,588 (GRCm39) |
S13316P |
probably damaging |
Het |
| Uap1l1 |
A |
T |
2: 25,253,292 (GRCm39) |
M381K |
probably damaging |
Het |
| Wdr26 |
A |
G |
1: 181,030,695 (GRCm39) |
Y200H |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,309,143 (GRCm39) |
M790L |
possibly damaging |
Het |
| Zscan25 |
T |
C |
5: 145,223,251 (GRCm39) |
L173P |
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 |
|
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 |
|
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'- GTCAGATTCGGGTGACTCAG -3'
(R):5'- CTCAGAGAACAGTGTGACCAAG -3'
Sequencing Primer
(F):5'- GGCCTTGAGACACTAAAAATATCCTG -3'
(R):5'- CCCCTTAAGGAAAACGGATTCTTGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation