Incidental Mutation 'R2483:Kcnh5'
ID |
250701 |
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 |
040407-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2483 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
74943994-75224106 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75161245 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 221
(I221N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
AlphaFold |
Q920E3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042299
AA Change: I221N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046864 Gene: ENSMUSG00000034402 AA Change: I221N
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: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
A |
G |
11: 7,080,348 (GRCm39) |
T364A |
probably benign |
Het |
Adpgk |
G |
A |
9: 59,221,036 (GRCm39) |
V281I |
probably benign |
Het |
Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
Ankrd13d |
T |
C |
19: 4,331,968 (GRCm39) |
E110G |
probably damaging |
Het |
Ankrd53 |
A |
G |
6: 83,740,244 (GRCm39) |
E104G |
possibly damaging |
Het |
Ano6 |
A |
T |
15: 95,863,855 (GRCm39) |
T792S |
probably benign |
Het |
Atm |
A |
T |
9: 53,421,566 (GRCm39) |
V715D |
probably damaging |
Het |
Avl9 |
A |
G |
6: 56,713,828 (GRCm39) |
D362G |
probably benign |
Het |
Bin1 |
T |
A |
18: 32,547,280 (GRCm39) |
S152R |
probably damaging |
Het |
Bscl2 |
T |
A |
19: 8,818,514 (GRCm39) |
C40S |
probably benign |
Het |
Btaf1 |
A |
G |
19: 36,958,486 (GRCm39) |
T668A |
probably benign |
Het |
Btrc |
A |
G |
19: 45,504,497 (GRCm39) |
D397G |
probably damaging |
Het |
Cables2 |
A |
T |
2: 179,902,222 (GRCm39) |
V379E |
probably damaging |
Het |
Cacna2d2 |
T |
C |
9: 107,389,221 (GRCm39) |
L228P |
probably damaging |
Het |
Cd109 |
A |
T |
9: 78,574,639 (GRCm39) |
D541V |
probably damaging |
Het |
Cdh26 |
A |
T |
2: 178,108,382 (GRCm39) |
S327C |
probably damaging |
Het |
Cep78 |
T |
C |
19: 15,938,344 (GRCm39) |
K535E |
probably damaging |
Het |
Ces1a |
A |
G |
8: 93,753,969 (GRCm39) |
Y345H |
probably damaging |
Het |
Col6a5 |
C |
A |
9: 105,741,347 (GRCm39) |
R2524I |
probably damaging |
Het |
Cracd |
A |
T |
5: 77,004,256 (GRCm39) |
I206F |
probably damaging |
Het |
Dctn1 |
G |
A |
6: 83,171,169 (GRCm39) |
R661H |
probably damaging |
Het |
Ddias |
T |
C |
7: 92,508,800 (GRCm39) |
T372A |
probably benign |
Het |
Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
Dock8 |
A |
G |
19: 25,057,241 (GRCm39) |
Q216R |
probably benign |
Het |
Emx1 |
T |
C |
6: 85,165,237 (GRCm39) |
S105P |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,867,102 (GRCm39) |
Y1014C |
unknown |
Het |
Fam193a |
A |
T |
5: 34,623,102 (GRCm39) |
K1230M |
possibly damaging |
Het |
Fgf9 |
A |
G |
14: 58,347,028 (GRCm39) |
Q207R |
probably benign |
Het |
Gm5460 |
G |
A |
14: 33,767,775 (GRCm39) |
C461Y |
possibly damaging |
Het |
Gpc1 |
T |
C |
1: 92,783,660 (GRCm39) |
I249T |
probably benign |
Het |
Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,897,275 (GRCm39) |
E1097G |
probably benign |
Het |
Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,760,263 (GRCm39) |
Y529H |
probably damaging |
Het |
Kyat1 |
T |
C |
2: 30,076,710 (GRCm39) |
H218R |
possibly damaging |
Het |
Lamb2 |
T |
G |
9: 108,357,758 (GRCm39) |
C94G |
probably damaging |
Het |
Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
Myh1 |
A |
T |
11: 67,102,052 (GRCm39) |
M811L |
probably benign |
Het |
Myh7 |
T |
C |
14: 55,210,838 (GRCm39) |
E1693G |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,755,565 (GRCm39) |
T979A |
probably benign |
Het |
Myo18b |
A |
T |
5: 113,006,274 (GRCm39) |
C879S |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,384,807 (GRCm39) |
T733A |
probably damaging |
Het |
Ndufa9 |
A |
T |
6: 126,821,362 (GRCm39) |
M76K |
possibly damaging |
Het |
Nectin3 |
A |
G |
16: 46,215,542 (GRCm39) |
C74R |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,970,972 (GRCm39) |
F2514L |
probably damaging |
Het |
Or4a69 |
G |
A |
2: 89,313,471 (GRCm39) |
Q3* |
probably null |
Het |
Or52d3 |
T |
C |
7: 104,229,149 (GRCm39) |
S99P |
probably damaging |
Het |
Or5p81 |
CAAATA |
CA |
7: 108,266,869 (GRCm39) |
|
probably null |
Het |
P2ry2 |
A |
T |
7: 100,647,706 (GRCm39) |
S200T |
probably benign |
Het |
Pcdha5 |
G |
T |
18: 37,094,542 (GRCm39) |
M350I |
probably benign |
Het |
Pcdha5 |
G |
A |
18: 37,094,834 (GRCm39) |
V448M |
probably damaging |
Het |
Pex12 |
C |
T |
11: 83,188,455 (GRCm39) |
R180H |
possibly damaging |
Het |
Pip4p1 |
C |
G |
14: 51,167,749 (GRCm39) |
V59L |
probably damaging |
Het |
Pkd1l1 |
A |
T |
11: 8,912,701 (GRCm39) |
V168E |
probably damaging |
Het |
Prokr2 |
T |
A |
2: 132,223,095 (GRCm39) |
D149V |
probably damaging |
Het |
Rnf123 |
A |
G |
9: 107,940,720 (GRCm39) |
V707A |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,774,589 (GRCm39) |
E1189G |
probably damaging |
Het |
Scarf1 |
T |
C |
11: 75,406,117 (GRCm39) |
F134L |
probably damaging |
Het |
Sfxn5 |
A |
G |
6: 85,309,260 (GRCm39) |
|
probably null |
Het |
Shfl |
A |
T |
9: 20,784,473 (GRCm39) |
I186F |
possibly damaging |
Het |
Skic3 |
A |
G |
13: 76,330,986 (GRCm39) |
E1472G |
probably damaging |
Het |
Slc17a5 |
A |
T |
9: 78,445,556 (GRCm39) |
V433D |
probably damaging |
Het |
Snapc1 |
A |
G |
12: 74,011,417 (GRCm39) |
T28A |
probably benign |
Het |
Soat1 |
T |
C |
1: 156,258,669 (GRCm39) |
Y528C |
probably damaging |
Het |
Spem1 |
G |
A |
11: 69,712,344 (GRCm39) |
R107C |
possibly damaging |
Het |
Srcap |
T |
C |
7: 127,141,319 (GRCm39) |
S1639P |
probably damaging |
Het |
Sycp2 |
A |
T |
2: 178,016,388 (GRCm39) |
N691K |
probably damaging |
Het |
Syne2 |
A |
T |
12: 76,142,311 (GRCm39) |
I6183F |
probably damaging |
Het |
Tas2r110 |
A |
T |
6: 132,845,433 (GRCm39) |
M155L |
probably benign |
Het |
Tenm3 |
G |
A |
8: 48,693,305 (GRCm39) |
T1859I |
probably damaging |
Het |
Thsd7b |
T |
A |
1: 130,030,809 (GRCm39) |
V1048D |
probably damaging |
Het |
Vav3 |
T |
C |
3: 109,248,482 (GRCm39) |
L43P |
probably damaging |
Het |
Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
Vmn2r24 |
A |
G |
6: 123,792,997 (GRCm39) |
R775G |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,883,189 (GRCm39) |
|
probably null |
Het |
Vps37c |
T |
A |
19: 10,683,569 (GRCm39) |
|
probably null |
Het |
Wwp2 |
A |
G |
8: 108,275,167 (GRCm39) |
D388G |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,355,336 (GRCm39) |
T3366S |
probably benign |
Het |
Zbtb49 |
A |
C |
5: 38,360,701 (GRCm39) |
|
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 |
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'- TAAGCTTCGGGTCAGAAATGAC -3'
(R):5'- ATCATGTGACTCGGTCTGTG -3'
Sequencing Primer
(F):5'- ATGACCTCTCCACCCGG -3'
(R):5'- ATCATGTGACTCGGTCTGTGATTGG -3'
|
Posted On |
2014-12-04 |