Incidental Mutation 'R5228:Kcnh4'
| ID |
402745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnh4
|
| Ensembl Gene |
ENSMUSG00000035355 |
| Gene Name |
potassium voltage-gated channel, subfamily H (eag-related), member 4 |
| Synonyms |
BEC2 |
| MMRRC Submission |
042801-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5228 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100631202-100650768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100637722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 645
(D645G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107361]
[ENSMUST00000107363]
|
| AlphaFold |
A2A5F7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107361
AA Change: D645G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355
AA Change: D645G
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
16 |
88 |
1.41e-1 |
SMART |
|
PAC
|
94 |
136 |
4.88e-5 |
SMART |
|
low complexity region
|
155 |
168 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
226 |
486 |
1.5e-32 |
PFAM |
|
Pfam:Ion_trans_2
|
412 |
480 |
2.3e-12 |
PFAM |
|
cNMP
|
556 |
681 |
1.27e-12 |
SMART |
|
low complexity region
|
726 |
735 |
N/A |
INTRINSIC |
|
low complexity region
|
766 |
787 |
N/A |
INTRINSIC |
|
coiled coil region
|
874 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
1006 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107363
AA Change: D645G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355
AA Change: D645G
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
16 |
88 |
1.41e-1 |
SMART |
|
PAC
|
94 |
136 |
4.88e-5 |
SMART |
|
low complexity region
|
155 |
168 |
N/A |
INTRINSIC |
|
transmembrane domain
|
228 |
250 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
265 |
474 |
1.1e-17 |
PFAM |
|
Pfam:Ion_trans_2
|
412 |
480 |
2.2e-12 |
PFAM |
|
cNMP
|
556 |
681 |
1.27e-12 |
SMART |
|
low complexity region
|
726 |
735 |
N/A |
INTRINSIC |
|
low complexity region
|
766 |
787 |
N/A |
INTRINSIC |
|
coiled coil region
|
874 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
1006 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8057 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
C |
13: 12,303,545 (GRCm39) |
|
probably null |
Het |
| Agrn |
G |
T |
4: 156,251,403 (GRCm39) |
A1864D |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,741,820 (GRCm39) |
S751P |
probably benign |
Het |
| Aifm2 |
T |
C |
10: 61,568,196 (GRCm39) |
V201A |
probably damaging |
Het |
| C1rl |
C |
T |
6: 124,485,427 (GRCm39) |
A266V |
probably damaging |
Het |
| Clec2h |
G |
T |
6: 128,651,749 (GRCm39) |
A153S |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,476,768 (GRCm39) |
|
probably null |
Het |
| Frmpd1 |
T |
C |
4: 45,284,322 (GRCm39) |
S1048P |
probably damaging |
Het |
| Galnt16 |
A |
T |
12: 80,630,822 (GRCm39) |
D300V |
probably damaging |
Het |
| Gbp8 |
G |
T |
5: 105,164,051 (GRCm39) |
Q416K |
probably benign |
Het |
| Gldn |
C |
T |
9: 54,242,003 (GRCm39) |
T319I |
probably damaging |
Het |
| Gli2 |
T |
A |
1: 118,763,936 (GRCm39) |
D1405V |
probably damaging |
Het |
| Gtsf2 |
A |
G |
15: 103,353,042 (GRCm39) |
Y45H |
probably damaging |
Het |
| Hmcn1 |
C |
A |
1: 150,522,452 (GRCm39) |
V3483F |
probably benign |
Het |
| Hspa12b |
T |
C |
2: 130,984,884 (GRCm39) |
V385A |
possibly damaging |
Het |
| Ibtk |
T |
C |
9: 85,608,742 (GRCm39) |
E390G |
possibly damaging |
Het |
| Inpp4b |
C |
G |
8: 82,494,744 (GRCm39) |
P53R |
probably damaging |
Het |
| Ipo7 |
T |
A |
7: 109,645,969 (GRCm39) |
C504S |
probably benign |
Het |
| Iws1 |
A |
G |
18: 32,221,314 (GRCm39) |
D549G |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,606,867 (GRCm39) |
E9G |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,635,439 (GRCm39) |
V810A |
probably damaging |
Het |
| Myo1e |
C |
A |
9: 70,229,640 (GRCm39) |
|
probably null |
Het |
| N4bp2 |
T |
C |
5: 65,964,861 (GRCm39) |
V970A |
probably benign |
Het |
| Pira2 |
T |
A |
7: 3,847,373 (GRCm39) |
K105N |
probably benign |
Het |
| Pml |
G |
A |
9: 58,127,280 (GRCm39) |
R61C |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,860,415 (GRCm39) |
L76P |
probably damaging |
Het |
| Rlbp1 |
T |
G |
7: 79,027,082 (GRCm39) |
T193P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGG |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
| Sh3rf2 |
T |
C |
18: 42,286,246 (GRCm39) |
S548P |
possibly damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,304,384 (GRCm39) |
D609G |
possibly damaging |
Het |
| Slk |
A |
T |
19: 47,613,771 (GRCm39) |
I876F |
probably damaging |
Het |
| Tcf20 |
G |
A |
15: 82,740,156 (GRCm39) |
P432S |
probably benign |
Het |
| Tenm3 |
A |
C |
8: 48,689,390 (GRCm39) |
S2066A |
probably damaging |
Het |
| Topors |
G |
C |
4: 40,262,367 (GRCm39) |
L306V |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,929,844 (GRCm39) |
S171T |
probably damaging |
Het |
| Ube2m |
G |
T |
7: 12,769,697 (GRCm39) |
|
probably benign |
Het |
| Vmn1r37 |
T |
C |
6: 66,709,282 (GRCm39) |
*266Q |
probably null |
Het |
| Vmn2r34 |
T |
C |
7: 7,675,340 (GRCm39) |
T683A |
probably damaging |
Het |
|
| Other mutations in Kcnh4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Kcnh4
|
APN |
11 |
100,647,821 (GRCm39) |
splice site |
probably benign |
|
|
IGL00430:Kcnh4
|
APN |
11 |
100,648,480 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02031:Kcnh4
|
APN |
11 |
100,636,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02346:Kcnh4
|
APN |
11 |
100,647,768 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02674:Kcnh4
|
APN |
11 |
100,637,720 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02903:Kcnh4
|
APN |
11 |
100,648,480 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03152:Kcnh4
|
APN |
11 |
100,636,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0032:Kcnh4
|
UTSW |
11 |
100,637,758 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0033:Kcnh4
|
UTSW |
11 |
100,637,758 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0066:Kcnh4
|
UTSW |
11 |
100,648,626 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0066:Kcnh4
|
UTSW |
11 |
100,648,626 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0242:Kcnh4
|
UTSW |
11 |
100,646,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Kcnh4
|
UTSW |
11 |
100,646,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Kcnh4
|
UTSW |
11 |
100,637,758 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0310:Kcnh4
|
UTSW |
11 |
100,636,995 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0330:Kcnh4
|
UTSW |
11 |
100,648,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0345:Kcnh4
|
UTSW |
11 |
100,648,507 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0436:Kcnh4
|
UTSW |
11 |
100,637,758 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0466:Kcnh4
|
UTSW |
11 |
100,637,758 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0468:Kcnh4
|
UTSW |
11 |
100,637,758 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0487:Kcnh4
|
UTSW |
11 |
100,641,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0562:Kcnh4
|
UTSW |
11 |
100,641,070 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0613:Kcnh4
|
UTSW |
11 |
100,637,758 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1077:Kcnh4
|
UTSW |
11 |
100,643,164 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1705:Kcnh4
|
UTSW |
11 |
100,632,598 (GRCm39) |
missense |
probably benign |
|
|
R1840:Kcnh4
|
UTSW |
11 |
100,636,167 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2114:Kcnh4
|
UTSW |
11 |
100,650,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4448:Kcnh4
|
UTSW |
11 |
100,646,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4823:Kcnh4
|
UTSW |
11 |
100,646,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Kcnh4
|
UTSW |
11 |
100,640,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4963:Kcnh4
|
UTSW |
11 |
100,643,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Kcnh4
|
UTSW |
11 |
100,637,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Kcnh4
|
UTSW |
11 |
100,643,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Kcnh4
|
UTSW |
11 |
100,637,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Kcnh4
|
UTSW |
11 |
100,640,628 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5945:Kcnh4
|
UTSW |
11 |
100,636,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6434:Kcnh4
|
UTSW |
11 |
100,641,105 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6505:Kcnh4
|
UTSW |
11 |
100,647,911 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7263:Kcnh4
|
UTSW |
11 |
100,632,643 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7270:Kcnh4
|
UTSW |
11 |
100,638,472 (GRCm39) |
missense |
probably benign |
|
|
R7353:Kcnh4
|
UTSW |
11 |
100,648,025 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7355:Kcnh4
|
UTSW |
11 |
100,643,269 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7544:Kcnh4
|
UTSW |
11 |
100,647,906 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7563:Kcnh4
|
UTSW |
11 |
100,632,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7664:Kcnh4
|
UTSW |
11 |
100,641,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7972:Kcnh4
|
UTSW |
11 |
100,643,278 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8146:Kcnh4
|
UTSW |
11 |
100,646,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8166:Kcnh4
|
UTSW |
11 |
100,632,712 (GRCm39) |
missense |
probably benign |
|
|
R8234:Kcnh4
|
UTSW |
11 |
100,643,093 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8295:Kcnh4
|
UTSW |
11 |
100,640,523 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8318:Kcnh4
|
UTSW |
11 |
100,643,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8347:Kcnh4
|
UTSW |
11 |
100,648,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8413:Kcnh4
|
UTSW |
11 |
100,640,619 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8464:Kcnh4
|
UTSW |
11 |
100,648,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9369:Kcnh4
|
UTSW |
11 |
100,648,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Kcnh4
|
UTSW |
11 |
100,641,069 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0061:Kcnh4
|
UTSW |
11 |
100,647,733 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAGCCATATGTCGTCTAC -3'
(R):5'- GGCCTCTTACAAGTTCCCTG -3'
Sequencing Primer
(F):5'- CATACATTGTTTTCAGAACCTTGGCG -3'
(R):5'- AAGTACTCTGACCATCATCTCTCAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation