Incidental Mutation 'R4728:Kcnh5'
| ID |
358623 |
| 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 |
042020-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4728 (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 75054555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 463
(I463N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
| AlphaFold |
Q920E3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042299
AA Change: I463N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: I463N
| 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 |
0.9110 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
94% (73/78) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicc1 |
C |
T |
10: 70,771,661 (GRCm39) |
|
probably null |
Het |
| Bpifc |
T |
A |
10: 85,827,063 (GRCm39) |
H162L |
possibly damaging |
Het |
| Ccdc163 |
C |
T |
4: 116,566,209 (GRCm39) |
|
probably benign |
Het |
| Cldn12 |
A |
G |
5: 5,558,385 (GRCm39) |
F14S |
probably damaging |
Het |
| Cyth4 |
G |
A |
15: 78,486,913 (GRCm39) |
G14R |
probably benign |
Het |
| Ddhd2 |
C |
T |
8: 26,242,294 (GRCm39) |
V194I |
probably damaging |
Het |
| Ddx23 |
A |
T |
15: 98,548,106 (GRCm39) |
V433E |
probably damaging |
Het |
| Defb34 |
A |
G |
8: 19,176,434 (GRCm39) |
N42D |
possibly damaging |
Het |
| Dennd6a |
A |
G |
14: 26,348,575 (GRCm39) |
E313G |
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,916,718 (GRCm39) |
F570S |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,658,589 (GRCm39) |
E864G |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,486,160 (GRCm39) |
Q451* |
probably null |
Het |
| Fmo9 |
A |
T |
1: 166,490,880 (GRCm39) |
Y533N |
possibly damaging |
Het |
| Fut8 |
T |
A |
12: 77,521,973 (GRCm39) |
D537E |
probably damaging |
Het |
| Gm5407 |
T |
C |
16: 49,117,283 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9916 |
A |
G |
3: 118,228,690 (GRCm39) |
|
noncoding transcript |
Het |
| Grm5 |
T |
A |
7: 87,624,496 (GRCm39) |
F354L |
probably damaging |
Het |
| Hira |
C |
T |
16: 18,741,654 (GRCm39) |
A353V |
probably damaging |
Het |
| Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,839,372 (GRCm39) |
L628P |
probably damaging |
Het |
| Kcnh8 |
C |
A |
17: 53,032,898 (GRCm39) |
Q62K |
probably damaging |
Het |
| Kif3c |
A |
T |
12: 3,415,873 (GRCm39) |
|
probably benign |
Het |
| Kmo |
A |
G |
1: 175,484,329 (GRCm39) |
D353G |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,399,606 (GRCm39) |
T2301A |
probably damaging |
Het |
| Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
C |
T |
12: 81,769,147 (GRCm39) |
R967Q |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,674,774 (GRCm39) |
H414R |
probably damaging |
Het |
| Mier1 |
A |
G |
4: 102,997,402 (GRCm39) |
E145G |
probably damaging |
Het |
| Mlc1 |
A |
T |
15: 88,862,234 (GRCm39) |
|
probably null |
Het |
| Napb |
T |
C |
2: 148,551,245 (GRCm39) |
D96G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,338,740 (GRCm39) |
S193R |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,174,515 (GRCm39) |
V967A |
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,020,989 (GRCm39) |
I492K |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,789,179 (GRCm39) |
T497A |
probably benign |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Ogdh |
T |
A |
11: 6,292,549 (GRCm39) |
Y417N |
probably damaging |
Het |
| Or5w19 |
T |
C |
2: 87,698,779 (GRCm39) |
V148A |
probably benign |
Het |
| Ovol1 |
A |
T |
19: 5,603,690 (GRCm39) |
Y70* |
probably null |
Het |
| P2ry1 |
A |
G |
3: 60,911,641 (GRCm39) |
Y260C |
probably damaging |
Het |
| Pcx |
G |
T |
19: 4,653,124 (GRCm39) |
R263L |
probably damaging |
Het |
| Pla2g4f |
T |
A |
2: 120,131,402 (GRCm39) |
T774S |
probably benign |
Het |
| Prdm15 |
T |
G |
16: 97,622,986 (GRCm39) |
K289Q |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,960,268 (GRCm39) |
H91Q |
probably benign |
Het |
| Prmt5 |
C |
T |
14: 54,745,364 (GRCm39) |
R601H |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,120,637 (GRCm39) |
D2192E |
probably damaging |
Het |
| Ptdss2 |
A |
G |
7: 140,734,372 (GRCm39) |
I299V |
probably benign |
Het |
| Rbm28 |
A |
G |
6: 29,143,591 (GRCm39) |
V354A |
probably damaging |
Het |
| Rps6kb1 |
G |
C |
11: 86,435,484 (GRCm39) |
|
probably null |
Het |
| Sema3f |
A |
G |
9: 107,582,639 (GRCm39) |
S35P |
probably benign |
Het |
| Serpina3n |
A |
T |
12: 104,375,422 (GRCm39) |
T165S |
probably benign |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Sh2d4b |
T |
A |
14: 40,564,389 (GRCm39) |
R267* |
probably null |
Het |
| Slc5a12 |
A |
T |
2: 110,474,769 (GRCm39) |
K554* |
probably null |
Het |
| Snrnp200 |
T |
C |
2: 127,059,334 (GRCm39) |
L409P |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,069,798 (GRCm39) |
V981E |
possibly damaging |
Het |
| Spon2 |
T |
A |
5: 33,374,682 (GRCm39) |
R41S |
probably benign |
Het |
| Sptb |
A |
T |
12: 76,630,153 (GRCm39) |
M2279K |
probably benign |
Het |
| Srcap |
T |
G |
7: 127,140,096 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
A |
G |
19: 40,594,186 (GRCm39) |
V409A |
probably damaging |
Het |
| Tg |
A |
C |
15: 66,554,676 (GRCm39) |
Q697P |
probably damaging |
Het |
| Tmem181a |
A |
G |
17: 6,340,874 (GRCm39) |
D141G |
probably benign |
Het |
| Tmem82 |
A |
G |
4: 141,341,963 (GRCm39) |
S334P |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,151,190 (GRCm39) |
Y1875C |
probably damaging |
Het |
| Vmn1r63 |
C |
A |
7: 5,806,362 (GRCm39) |
R90L |
probably damaging |
Het |
| Zfp330 |
A |
C |
8: 83,497,475 (GRCm39) |
Y56D |
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 |
|
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'- TGTCGATGCCTTTTGACATTGAC -3'
(R):5'- AAGCCCACTGAGTGCATGAC -3'
Sequencing Primer
(F):5'- CCTTTTGACATTGACCATGTTGAGAC -3'
(R):5'- ACTGGTTTAGTCAATGTAAGT -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation