Incidental Mutation 'IGL03100:Kcnh2'
ID |
418689 |
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: 0.708)
|
Stock # |
IGL03100
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
24524587-24556602 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24527682 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 890
(K890R)
|
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: K890R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000047705 Gene: ENSMUSG00000038319 AA Change: K890R
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 benign
Transcript: ENSMUST00000115098
AA Change: K548R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110750 Gene: ENSMUSG00000038319 AA Change: K548R
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,208,527 (GRCm39) |
R233S |
probably benign |
Het |
Abcc9 |
A |
T |
6: 142,640,270 (GRCm39) |
W73R |
probably damaging |
Het |
Ago1 |
A |
G |
4: 126,336,964 (GRCm39) |
V247A |
probably benign |
Het |
Anpep |
T |
A |
7: 79,486,109 (GRCm39) |
T538S |
probably benign |
Het |
Asb14 |
A |
G |
14: 26,625,329 (GRCm39) |
K228R |
probably benign |
Het |
Atp6v0d2 |
C |
T |
4: 19,910,586 (GRCm39) |
|
probably null |
Het |
B3gat2 |
A |
T |
1: 23,802,272 (GRCm39) |
D186V |
probably damaging |
Het |
Bmpr1a |
A |
T |
14: 34,163,164 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,732,175 (GRCm39) |
D224G |
probably damaging |
Het |
Cd6 |
T |
C |
19: 10,770,303 (GRCm39) |
M463V |
probably benign |
Het |
Clasp1 |
T |
C |
1: 118,395,626 (GRCm39) |
I188T |
possibly damaging |
Het |
Cldn17 |
G |
T |
16: 88,303,489 (GRCm39) |
A80E |
probably damaging |
Het |
Clptm1l |
A |
G |
13: 73,760,509 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
A |
T |
9: 105,814,512 (GRCm39) |
V500E |
unknown |
Het |
Ctdspl2 |
C |
T |
2: 121,809,394 (GRCm39) |
T115I |
probably benign |
Het |
Dbh |
G |
T |
2: 27,055,534 (GRCm39) |
A3S |
probably benign |
Het |
Fgd4 |
A |
G |
16: 16,295,383 (GRCm39) |
|
probably benign |
Het |
Gm4952 |
T |
A |
19: 12,602,083 (GRCm39) |
|
probably null |
Het |
Grik4 |
A |
G |
9: 42,461,751 (GRCm39) |
M551T |
probably damaging |
Het |
Hecw2 |
T |
C |
1: 53,870,815 (GRCm39) |
I1389V |
probably damaging |
Het |
Hkdc1 |
T |
C |
10: 62,253,608 (GRCm39) |
T58A |
probably benign |
Het |
Kif24 |
T |
C |
4: 41,394,446 (GRCm39) |
H809R |
possibly damaging |
Het |
Knl1 |
A |
G |
2: 118,931,251 (GRCm39) |
E1989G |
probably damaging |
Het |
Muc15 |
A |
G |
2: 110,561,939 (GRCm39) |
D125G |
probably damaging |
Het |
Ogdhl |
A |
T |
14: 32,064,029 (GRCm39) |
M632L |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,531,499 (GRCm39) |
I1374T |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,046,243 (GRCm39) |
N670K |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,804,018 (GRCm39) |
H590R |
probably damaging |
Het |
Scara3 |
A |
C |
14: 66,168,722 (GRCm39) |
H298Q |
probably damaging |
Het |
Sirt3 |
T |
C |
7: 140,445,030 (GRCm39) |
D256G |
probably damaging |
Het |
Slc13a2 |
T |
C |
11: 78,295,299 (GRCm39) |
Q158R |
probably damaging |
Het |
Slco5a1 |
T |
A |
1: 12,949,504 (GRCm39) |
T629S |
possibly damaging |
Het |
Speer4f2 |
A |
G |
5: 17,581,528 (GRCm39) |
K157E |
probably damaging |
Het |
Srsf1 |
T |
A |
11: 87,939,954 (GRCm39) |
D155E |
probably damaging |
Het |
Tln2 |
C |
T |
9: 67,203,019 (GRCm39) |
R534H |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,591,992 (GRCm39) |
|
probably benign |
Het |
Ube2m |
A |
G |
7: 12,771,562 (GRCm39) |
L32P |
probably benign |
Het |
Wdr24 |
T |
A |
17: 26,044,681 (GRCm39) |
F179I |
possibly damaging |
Het |
Zfp961 |
T |
C |
8: 72,721,754 (GRCm39) |
*69Q |
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 |
IGL02379:Kcnh2
|
APN |
5 |
24,531,636 (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 |
2016-08-02 |