Incidental Mutation 'R1608:Kcnh2'
ID |
176615 |
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 |
039645-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.681)
|
Stock # |
R1608 (G1)
|
Quality Score |
82 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
24524587-24556602 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24527217 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 559
(T559A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036092]
[ENSMUST00000115098]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036092
AA Change: T901A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000047705 Gene: ENSMUSG00000038319 AA Change: T901A
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: T559A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110750 Gene: ENSMUSG00000038319 AA Change: T559A
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: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
A |
G |
9: 30,813,775 (GRCm39) |
S797P |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,011,783 (GRCm39) |
Y829H |
probably damaging |
Het |
Anp32a |
A |
G |
9: 62,279,375 (GRCm39) |
D74G |
probably damaging |
Het |
B3gat1 |
T |
C |
9: 26,663,112 (GRCm39) |
I13T |
probably damaging |
Het |
Cbfa2t3 |
A |
T |
8: 123,374,448 (GRCm39) |
V99D |
probably damaging |
Het |
Celsr2 |
C |
T |
3: 108,309,799 (GRCm39) |
C1600Y |
probably damaging |
Het |
Ddx31 |
T |
A |
2: 28,749,078 (GRCm39) |
N291K |
probably damaging |
Het |
Dennd1a |
T |
G |
2: 37,742,446 (GRCm39) |
M3L |
probably benign |
Het |
Dnah12 |
C |
T |
14: 26,488,147 (GRCm39) |
P1017L |
probably damaging |
Het |
Dnajc6 |
A |
T |
4: 101,456,364 (GRCm39) |
D86V |
probably damaging |
Het |
Evx2 |
T |
G |
2: 74,488,195 (GRCm39) |
K208N |
probably damaging |
Het |
F13a1 |
A |
G |
13: 37,052,785 (GRCm39) |
V718A |
probably damaging |
Het |
Fcho2 |
T |
C |
13: 98,862,706 (GRCm39) |
D757G |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Fryl |
C |
T |
5: 73,232,094 (GRCm39) |
W424* |
probably null |
Het |
Gata3 |
G |
T |
2: 9,879,579 (GRCm39) |
Y97* |
probably null |
Het |
Gm15446 |
T |
A |
5: 110,090,323 (GRCm39) |
C192S |
probably damaging |
Het |
Hdac10 |
A |
T |
15: 89,009,521 (GRCm39) |
D470E |
probably benign |
Het |
Ier2 |
A |
G |
8: 85,389,055 (GRCm39) |
L109P |
probably benign |
Het |
Iftap |
T |
C |
2: 101,440,916 (GRCm39) |
E29G |
probably damaging |
Het |
Khk |
C |
T |
5: 31,087,938 (GRCm39) |
A204V |
probably damaging |
Het |
Kndc1 |
T |
A |
7: 139,507,321 (GRCm39) |
M1169K |
possibly damaging |
Het |
Krtap31-1 |
A |
G |
11: 99,798,919 (GRCm39) |
S41G |
probably benign |
Het |
Nabp1 |
T |
C |
1: 51,512,162 (GRCm39) |
|
probably null |
Het |
Nphp3 |
A |
G |
9: 103,913,039 (GRCm39) |
D939G |
probably benign |
Het |
Or5e1 |
A |
T |
7: 108,354,309 (GRCm39) |
N82I |
probably damaging |
Het |
Plcg2 |
T |
C |
8: 118,340,974 (GRCm39) |
I1089T |
possibly damaging |
Het |
Ptk2 |
A |
T |
15: 73,134,424 (GRCm39) |
D558E |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,853,112 (GRCm39) |
D168G |
probably benign |
Het |
Shisa8 |
G |
A |
15: 82,092,756 (GRCm39) |
P189L |
probably damaging |
Het |
Shkbp1 |
A |
G |
7: 27,054,204 (GRCm39) |
V89A |
probably benign |
Het |
Slc40a1 |
C |
T |
1: 45,950,457 (GRCm39) |
A332T |
probably damaging |
Het |
Slc44a3 |
A |
T |
3: 121,291,496 (GRCm39) |
Y373* |
probably null |
Het |
Slf2 |
T |
C |
19: 44,937,440 (GRCm39) |
V722A |
probably benign |
Het |
Spanxn4 |
A |
G |
12: 62,734,624 (GRCm39) |
|
noncoding transcript |
Het |
Stag3 |
T |
A |
5: 138,296,901 (GRCm39) |
|
probably null |
Het |
Tanc1 |
T |
C |
2: 59,628,038 (GRCm39) |
I612T |
possibly damaging |
Het |
Thbs2 |
T |
A |
17: 14,906,043 (GRCm39) |
M286L |
probably benign |
Het |
Top1 |
T |
A |
2: 160,545,515 (GRCm39) |
N294K |
probably benign |
Het |
Tpr |
T |
G |
1: 150,302,644 (GRCm39) |
L1381V |
probably damaging |
Het |
Trpm8 |
T |
G |
1: 88,254,154 (GRCm39) |
S126A |
probably benign |
Het |
Ttc41 |
A |
G |
10: 86,611,857 (GRCm39) |
Y1075C |
probably damaging |
Het |
Ubox5 |
C |
T |
2: 130,439,376 (GRCm39) |
G418D |
probably benign |
Het |
Vmn1r67 |
T |
C |
7: 10,180,907 (GRCm39) |
V57A |
possibly damaging |
Het |
Zbtb5 |
T |
C |
4: 44,993,500 (GRCm39) |
H628R |
probably damaging |
Het |
Zfp810 |
T |
C |
9: 22,190,216 (GRCm39) |
I231V |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TATTGGACACCCCAGAGAAGGCAC -3'
(R):5'- ATGCCTCCCTTCCACTGGACAAAG -3'
Sequencing Primer
(F):5'- GGCCTACCTGACAAGGGATTAC -3'
(R):5'- GGCGCGAGATAAAACAACTTTG -3'
|
Posted On |
2014-04-24 |