Incidental Mutation 'R6135:Kcnh2'
ID |
488285 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
044282-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.681)
|
Stock # |
R6135 (G1)
|
Quality Score |
203.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
24524587-24556602 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24526791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 1002
(S1002C)
|
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: S1002C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047705 Gene: ENSMUSG00000038319 AA Change: S1002C
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: S660C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110750 Gene: ENSMUSG00000038319 AA Change: S660C
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (55/55) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
G |
13: 77,402,335 (GRCm39) |
E95G |
probably damaging |
Het |
Abca4 |
C |
T |
3: 121,932,096 (GRCm39) |
T250I |
possibly damaging |
Het |
Ahi1 |
G |
A |
10: 20,845,020 (GRCm39) |
R375H |
probably benign |
Het |
Aimp1 |
T |
C |
3: 132,377,844 (GRCm39) |
K174E |
probably benign |
Het |
Aire |
A |
G |
10: 77,878,801 (GRCm39) |
L82P |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,259,656 (GRCm39) |
V760D |
possibly damaging |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Carf |
C |
T |
1: 60,187,122 (GRCm39) |
S540F |
probably damaging |
Het |
Ccdc171 |
T |
A |
4: 83,473,087 (GRCm39) |
M172K |
probably benign |
Het |
Chpt1 |
A |
T |
10: 88,318,145 (GRCm39) |
V199E |
possibly damaging |
Het |
Cldn16 |
G |
A |
16: 26,293,018 (GRCm39) |
D65N |
possibly damaging |
Het |
Cnga3 |
G |
A |
1: 37,271,318 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,244,246 (GRCm39) |
T440A |
unknown |
Het |
Creb3l3 |
A |
G |
10: 80,921,552 (GRCm39) |
I331T |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,832,379 (GRCm39) |
T1410A |
probably benign |
Het |
Dnm1 |
T |
A |
2: 32,223,075 (GRCm39) |
|
probably null |
Het |
Fhl5 |
A |
T |
4: 25,214,716 (GRCm39) |
Y20* |
probably null |
Het |
Fignl1 |
T |
C |
11: 11,752,557 (GRCm39) |
D166G |
probably benign |
Het |
Ghr |
T |
C |
15: 3,355,447 (GRCm39) |
I279V |
probably benign |
Het |
Gm1979 |
T |
G |
5: 26,205,298 (GRCm39) |
S180R |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,189,292 (GRCm39) |
V1232A |
possibly damaging |
Het |
Ifnar1 |
A |
G |
16: 91,298,508 (GRCm39) |
|
probably null |
Het |
Inpp5d |
A |
G |
1: 87,548,119 (GRCm39) |
|
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Krt87 |
T |
A |
15: 101,385,415 (GRCm39) |
E319V |
probably damaging |
Het |
Lbp |
A |
G |
2: 158,159,469 (GRCm39) |
I201V |
probably benign |
Het |
Man1a2 |
G |
A |
3: 100,592,248 (GRCm39) |
|
probably benign |
Het |
Myh8 |
A |
G |
11: 67,188,326 (GRCm39) |
T996A |
possibly damaging |
Het |
Nat10 |
A |
G |
2: 103,573,661 (GRCm39) |
L319P |
probably damaging |
Het |
Nelfa |
A |
G |
5: 34,056,620 (GRCm39) |
|
probably null |
Het |
Or5b97 |
A |
C |
19: 12,878,803 (GRCm39) |
Y114D |
probably damaging |
Het |
Pcdha11 |
T |
A |
18: 37,138,870 (GRCm39) |
N166K |
probably damaging |
Het |
Pcdha6 |
C |
A |
18: 37,102,269 (GRCm39) |
N487K |
probably damaging |
Het |
Pcsk2 |
A |
G |
2: 143,415,460 (GRCm39) |
D91G |
possibly damaging |
Het |
Pigp |
A |
G |
16: 94,171,065 (GRCm39) |
F22L |
probably benign |
Het |
Pnpla8 |
A |
C |
12: 44,329,670 (GRCm39) |
N74T |
probably benign |
Het |
Ppargc1b |
T |
C |
18: 61,448,980 (GRCm39) |
K114R |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,693,430 (GRCm39) |
D645G |
probably damaging |
Het |
Rnf213 |
G |
A |
11: 119,332,854 (GRCm39) |
V2688I |
probably benign |
Het |
Rnf43 |
A |
G |
11: 87,622,951 (GRCm39) |
H557R |
probably damaging |
Het |
Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
Rrp9 |
G |
A |
9: 106,360,221 (GRCm39) |
D210N |
probably damaging |
Het |
Scin |
G |
T |
12: 40,129,807 (GRCm39) |
Q329K |
possibly damaging |
Het |
Scn7a |
T |
A |
2: 66,534,244 (GRCm39) |
H477L |
probably benign |
Het |
Slc26a8 |
A |
T |
17: 28,888,914 (GRCm39) |
M195K |
probably benign |
Het |
Spata13 |
A |
G |
14: 60,993,877 (GRCm39) |
K1110E |
probably damaging |
Het |
Spata24 |
T |
A |
18: 35,793,503 (GRCm39) |
E103V |
probably damaging |
Het |
Srek1 |
T |
C |
13: 103,910,894 (GRCm39) |
N25S |
probably damaging |
Het |
Strada |
T |
C |
11: 106,064,140 (GRCm39) |
Y59C |
probably damaging |
Het |
Tnrc6c |
T |
C |
11: 117,626,831 (GRCm39) |
W1143R |
probably damaging |
Het |
Trip12 |
A |
T |
1: 84,738,559 (GRCm39) |
D765E |
probably benign |
Het |
Ttbk2 |
G |
A |
2: 120,580,798 (GRCm39) |
R444C |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,644,303 (GRCm39) |
I4555N |
possibly damaging |
Het |
Vcan |
C |
T |
13: 89,838,045 (GRCm39) |
E2500K |
probably benign |
Het |
Vps16 |
A |
G |
2: 130,280,573 (GRCm39) |
Y200C |
possibly damaging |
Het |
Wdfy4 |
T |
A |
14: 32,693,668 (GRCm39) |
H2719L |
probably damaging |
Het |
Zfhx2 |
T |
C |
14: 55,311,653 (GRCm39) |
D347G |
possibly damaging |
Het |
Zfp653 |
G |
A |
9: 21,969,558 (GRCm39) |
T236I |
probably damaging |
Het |
Zscan4-ps1 |
A |
T |
7: 10,799,913 (GRCm39) |
H325Q |
probably benign |
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 |
IGL02379:Kcnh2
|
APN |
5 |
24,531,636 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGCACAGACAGTCCTAGAC -3'
(R):5'- AGCCTTTGACAGAGGATGGG -3'
Sequencing Primer
(F):5'- AGTTCCCCCACAGTGCAG -3'
(R):5'- GAAAAGTGACACCTGTAATCCCTTG -3'
|
Posted On |
2017-10-10 |