Incidental Mutation 'IGL02379:Kcnh2'
| ID |
291307 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnh2
|
| Ensembl Gene |
ENSMUSG00000038319 |
| Gene Name |
potassium voltage-gated channel, subfamily H (eag-related), member 2 |
| Synonyms |
LQT, merg1b, merg1a, ether a go-go related, M-erg, ERG1, Lqt2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.681)
|
| Stock # |
IGL02379
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
24524587-24556602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 24531636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 425
(V425G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036092]
[ENSMUST00000115098]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036092
AA Change: V425G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047705
Gene: ENSMUSG00000038319
AA Change: V425G
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
13 |
87 |
9.54e0 |
SMART |
|
PAC
|
93 |
135 |
1.31e-5 |
SMART |
|
low complexity region
|
194 |
199 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
409 |
673 |
7.8e-38 |
PFAM |
|
Pfam:Ion_trans_2
|
600 |
667 |
3.2e-13 |
PFAM |
|
cNMP
|
744 |
862 |
1.15e-24 |
SMART |
|
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
925 |
956 |
N/A |
INTRINSIC |
|
low complexity region
|
965 |
982 |
N/A |
INTRINSIC |
|
coiled coil region
|
1035 |
1069 |
N/A |
INTRINSIC |
|
low complexity region
|
1082 |
1108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115098
AA Change: V83G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110750
Gene: ENSMUSG00000038319
AA Change: V83G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
114 |
319 |
1.4e-22 |
PFAM |
|
Pfam:Ion_trans_2
|
257 |
325 |
2.9e-14 |
PFAM |
|
cNMP
|
402 |
520 |
1.15e-24 |
SMART |
|
low complexity region
|
543 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
640 |
N/A |
INTRINSIC |
|
coiled coil region
|
693 |
727 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
766 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142197
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice which maintain expression of the A isoform and lack expression of the B isoform are predisposed to episodic sinus bradycardia. Mice with mutations causing defects in both isoforms are embryonic lethal with defects in cardiac development and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
A |
5: 121,760,106 (GRCm39) |
I996F |
probably damaging |
Het |
| Adamts9 |
T |
A |
6: 92,774,014 (GRCm39) |
D1133V |
probably damaging |
Het |
| Adi1 |
T |
A |
12: 28,729,466 (GRCm39) |
D106E |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,572,740 (GRCm39) |
F837S |
probably damaging |
Het |
| Alb |
T |
A |
5: 90,613,738 (GRCm39) |
D207E |
probably benign |
Het |
| Alms1 |
T |
G |
6: 85,606,615 (GRCm39) |
V2286G |
probably damaging |
Het |
| Alpl |
G |
A |
4: 137,469,869 (GRCm39) |
A485V |
probably damaging |
Het |
| Antxrl |
C |
A |
14: 33,778,492 (GRCm39) |
|
probably null |
Het |
| Apc |
C |
T |
18: 34,431,798 (GRCm39) |
T417I |
probably benign |
Het |
| Ash2l |
T |
C |
8: 26,312,799 (GRCm39) |
D390G |
probably damaging |
Het |
| Asph |
G |
A |
4: 9,474,980 (GRCm39) |
P582S |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,992,980 (GRCm39) |
L825Q |
probably benign |
Het |
| Bhlha15 |
T |
A |
5: 144,128,159 (GRCm39) |
N90K |
probably damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,552,835 (GRCm39) |
Y1043F |
possibly damaging |
Het |
| Chek1 |
T |
C |
9: 36,635,242 (GRCm39) |
D47G |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,627,619 (GRCm39) |
M451L |
probably benign |
Het |
| Csnk1g3 |
T |
C |
18: 54,066,564 (GRCm39) |
S346P |
probably benign |
Het |
| Cspg4 |
G |
T |
9: 56,799,893 (GRCm39) |
|
probably benign |
Het |
| Ctr9 |
A |
G |
7: 110,650,726 (GRCm39) |
K884E |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,471,556 (GRCm39) |
C813* |
probably null |
Het |
| Fn3k |
A |
T |
11: 121,325,950 (GRCm39) |
T46S |
probably benign |
Het |
| Foxred1 |
T |
C |
9: 35,121,282 (GRCm39) |
R89G |
probably benign |
Het |
| Gpr174 |
T |
C |
X: 106,337,084 (GRCm39) |
F299L |
probably damaging |
Het |
| Hdac7 |
T |
C |
15: 97,706,266 (GRCm39) |
D312G |
probably damaging |
Het |
| Il36b |
A |
G |
2: 24,044,650 (GRCm39) |
S17G |
probably benign |
Het |
| Kcna5 |
G |
T |
6: 126,511,472 (GRCm39) |
P219T |
probably damaging |
Het |
| Klk1b5 |
A |
G |
7: 43,500,246 (GRCm39) |
N278S |
probably damaging |
Het |
| Mars2 |
T |
A |
1: 55,277,212 (GRCm39) |
W272R |
probably damaging |
Het |
| Msl3l2 |
C |
A |
10: 55,992,017 (GRCm39) |
S247R |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,216,925 (GRCm39) |
E1144G |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,357,688 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,644 (GRCm39) |
K743E |
probably damaging |
Het |
| Nyap2 |
C |
T |
1: 81,065,147 (GRCm39) |
T53I |
probably damaging |
Het |
| Odad4 |
A |
T |
11: 100,457,809 (GRCm39) |
N471Y |
possibly damaging |
Het |
| Or10ag58 |
T |
C |
2: 87,265,668 (GRCm39) |
V279A |
probably benign |
Het |
| Or52z12 |
T |
C |
7: 103,234,099 (GRCm39) |
V290A |
possibly damaging |
Het |
| Peli2 |
A |
G |
14: 48,405,755 (GRCm39) |
H60R |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,232,844 (GRCm39) |
|
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 133,022,529 (GRCm39) |
D1157G |
probably damaging |
Het |
| Pip4k2a |
C |
T |
2: 18,870,922 (GRCm39) |
|
probably null |
Het |
| Raf1 |
A |
T |
6: 115,621,509 (GRCm39) |
D23E |
probably benign |
Het |
| Rhox10 |
G |
A |
X: 37,155,733 (GRCm39) |
R87H |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,376,345 (GRCm39) |
T449A |
possibly damaging |
Het |
| Serpina3a |
T |
A |
12: 104,084,919 (GRCm39) |
S105T |
probably benign |
Het |
| Slc12a9 |
T |
G |
5: 137,319,691 (GRCm39) |
Q608P |
probably damaging |
Het |
| Smg6 |
C |
A |
11: 74,944,751 (GRCm39) |
P167T |
probably damaging |
Het |
| Spata7 |
C |
T |
12: 98,600,519 (GRCm39) |
T44I |
probably damaging |
Het |
| Spink12 |
C |
T |
18: 44,239,575 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stag2 |
C |
T |
X: 41,339,474 (GRCm39) |
T754I |
probably benign |
Het |
| Supt6 |
C |
T |
11: 78,116,195 (GRCm39) |
V723M |
possibly damaging |
Het |
| Ubr3 |
A |
G |
2: 69,778,832 (GRCm39) |
D614G |
possibly damaging |
Het |
| Vps39 |
T |
A |
2: 120,154,089 (GRCm39) |
K624N |
probably benign |
Het |
| Vwa5b1 |
A |
T |
4: 138,340,170 (GRCm39) |
L29Q |
probably damaging |
Het |
| Wtap |
G |
A |
17: 13,188,336 (GRCm39) |
A188V |
probably benign |
Het |
| Zc3hc1 |
A |
G |
6: 30,390,974 (GRCm39) |
F5L |
probably benign |
Het |
| Zfp655 |
C |
T |
5: 145,180,765 (GRCm39) |
P208S |
probably benign |
Het |
| Zswim3 |
A |
T |
2: 164,662,602 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Kcnh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00955:Kcnh2
|
APN |
5 |
24,529,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01536:Kcnh2
|
APN |
5 |
24,531,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02305:Kcnh2
|
APN |
5 |
24,527,658 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03100:Kcnh2
|
APN |
5 |
24,527,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03326:Kcnh2
|
APN |
5 |
24,531,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Kcnh2
|
UTSW |
5 |
24,527,700 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0349:Kcnh2
|
UTSW |
5 |
24,556,235 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0959:Kcnh2
|
UTSW |
5 |
24,527,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0960:Kcnh2
|
UTSW |
5 |
24,527,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0963:Kcnh2
|
UTSW |
5 |
24,527,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1130:Kcnh2
|
UTSW |
5 |
24,536,823 (GRCm39) |
nonsense |
probably null |
|
|
R1147:Kcnh2
|
UTSW |
5 |
24,529,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1147:Kcnh2
|
UTSW |
5 |
24,529,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1201:Kcnh2
|
UTSW |
5 |
24,527,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1346:Kcnh2
|
UTSW |
5 |
24,527,658 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1608:Kcnh2
|
UTSW |
5 |
24,527,217 (GRCm39) |
missense |
probably benign |
|
|
R1613:Kcnh2
|
UTSW |
5 |
24,527,760 (GRCm39) |
splice site |
probably benign |
|
|
R1797:Kcnh2
|
UTSW |
5 |
24,527,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Kcnh2
|
UTSW |
5 |
24,531,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2312:Kcnh2
|
UTSW |
5 |
24,529,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2435:Kcnh2
|
UTSW |
5 |
24,531,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4623:Kcnh2
|
UTSW |
5 |
24,553,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4941:Kcnh2
|
UTSW |
5 |
24,536,085 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5394:Kcnh2
|
UTSW |
5 |
24,537,039 (GRCm39) |
missense |
probably benign |
|
|
R5467:Kcnh2
|
UTSW |
5 |
24,531,765 (GRCm39) |
nonsense |
probably null |
|
|
R6127:Kcnh2
|
UTSW |
5 |
24,530,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Kcnh2
|
UTSW |
5 |
24,526,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Kcnh2
|
UTSW |
5 |
24,536,921 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6936:Kcnh2
|
UTSW |
5 |
24,529,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Kcnh2
|
UTSW |
5 |
24,536,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7136:Kcnh2
|
UTSW |
5 |
24,537,989 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7399:Kcnh2
|
UTSW |
5 |
24,527,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7479:Kcnh2
|
UTSW |
5 |
24,530,490 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7860:Kcnh2
|
UTSW |
5 |
24,529,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7950:Kcnh2
|
UTSW |
5 |
24,538,034 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8018:Kcnh2
|
UTSW |
5 |
24,525,014 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8063:Kcnh2
|
UTSW |
5 |
24,526,670 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8517:Kcnh2
|
UTSW |
5 |
24,531,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8681:Kcnh2
|
UTSW |
5 |
24,536,981 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8992:Kcnh2
|
UTSW |
5 |
24,536,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9260:Kcnh2
|
UTSW |
5 |
24,528,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9348:Kcnh2
|
UTSW |
5 |
24,538,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9349:Kcnh2
|
UTSW |
5 |
24,538,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9416:Kcnh2
|
UTSW |
5 |
24,537,964 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation