Incidental Mutation 'R7544:Kcnh4'
ID |
584104 |
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 |
045616-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7544 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
100631202-100650768 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 100647906 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 152
(H152Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055083]
[ENSMUST00000107360]
[ENSMUST00000107361]
[ENSMUST00000107363]
|
AlphaFold |
A2A5F7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055083
|
SMART Domains |
Protein: ENSMUSP00000057578 Gene: ENSMUSG00000045471
Domain | Start | End | E-Value | Type |
Pfam:Orexin
|
1 |
129 |
2.2e-77 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107360
|
SMART Domains |
Protein: ENSMUSP00000102983 Gene: ENSMUSG00000045471
Domain | Start | End | E-Value | Type |
Pfam:Orexin
|
1 |
106 |
2.3e-60 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107361
AA Change: H152Q
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000102984 Gene: ENSMUSG00000035355 AA Change: H152Q
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 benign
Transcript: ENSMUST00000107363
AA Change: H152Q
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000102986 Gene: ENSMUSG00000035355 AA Change: H152Q
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
C |
T |
11: 72,089,765 (GRCm39) |
V40I |
probably damaging |
Het |
Abcb11 |
T |
C |
2: 69,095,830 (GRCm39) |
K837E |
probably benign |
Het |
Arhgef10 |
T |
C |
8: 15,029,854 (GRCm39) |
S919P |
probably benign |
Het |
Atxn2 |
T |
C |
5: 121,919,431 (GRCm39) |
S530P |
probably damaging |
Het |
Bicc1 |
T |
C |
10: 70,792,204 (GRCm39) |
E268G |
possibly damaging |
Het |
Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
Capn7 |
T |
G |
14: 31,062,007 (GRCm39) |
L40V |
probably damaging |
Het |
Cd28 |
A |
T |
1: 60,808,859 (GRCm39) |
N191I |
probably damaging |
Het |
Cfap69 |
G |
A |
5: 5,645,936 (GRCm39) |
T588M |
not run |
Het |
Csmd1 |
T |
C |
8: 16,142,310 (GRCm39) |
E1531G |
probably damaging |
Het |
Cyp4a14 |
T |
A |
4: 115,348,283 (GRCm39) |
D398V |
probably damaging |
Het |
Dchs2 |
T |
C |
3: 83,262,434 (GRCm39) |
S2901P |
probably damaging |
Het |
Ddx11 |
G |
A |
17: 66,433,280 (GRCm39) |
G37S |
probably damaging |
Het |
Diaph1 |
A |
T |
18: 38,026,322 (GRCm39) |
|
probably null |
Het |
Ech1 |
T |
C |
7: 28,525,392 (GRCm39) |
V49A |
probably benign |
Het |
Elovl4 |
T |
C |
9: 83,665,271 (GRCm39) |
Y196C |
probably damaging |
Het |
Ern2 |
G |
A |
7: 121,772,422 (GRCm39) |
L679F |
probably benign |
Het |
Fbf1 |
A |
T |
11: 116,056,659 (GRCm39) |
M17K |
probably benign |
Het |
Flvcr1 |
C |
A |
1: 190,758,143 (GRCm39) |
G50W |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,238,382 (GRCm39) |
S1455P |
probably benign |
Het |
Fzd9 |
A |
G |
5: 135,278,716 (GRCm39) |
Y390H |
probably damaging |
Het |
Gnai3 |
C |
T |
3: 108,025,702 (GRCm39) |
V126M |
|
Het |
Gpc5 |
T |
C |
14: 115,665,585 (GRCm39) |
F470L |
probably damaging |
Het |
Grin1 |
T |
C |
2: 25,195,086 (GRCm39) |
N332S |
probably benign |
Het |
Gtf3c5 |
T |
A |
2: 28,469,554 (GRCm39) |
I117F |
possibly damaging |
Het |
Hydin |
A |
T |
8: 111,316,157 (GRCm39) |
S4350C |
probably benign |
Het |
Kcnk12 |
A |
T |
17: 88,053,493 (GRCm39) |
S390T |
possibly damaging |
Het |
Klra9 |
T |
G |
6: 130,168,183 (GRCm39) |
T28P |
probably benign |
Het |
Lef1 |
T |
A |
3: 130,988,414 (GRCm39) |
I327N |
probably damaging |
Het |
Lin54 |
A |
G |
5: 100,633,129 (GRCm39) |
V185A |
possibly damaging |
Het |
Lrrc37 |
T |
C |
11: 103,506,274 (GRCm39) |
E1898G |
probably benign |
Het |
Lrrc4b |
A |
T |
7: 44,111,975 (GRCm39) |
I616F |
probably damaging |
Het |
Mad2l1bp |
A |
G |
17: 46,463,770 (GRCm39) |
Y85H |
possibly damaging |
Het |
Mars1 |
T |
C |
10: 127,147,479 (GRCm39) |
E7G |
probably benign |
Het |
Mpnd |
G |
A |
17: 56,318,666 (GRCm39) |
R225H |
probably benign |
Het |
Muc4 |
T |
A |
16: 32,555,016 (GRCm39) |
M1K |
probably null |
Het |
Nckap5 |
A |
G |
1: 125,953,948 (GRCm39) |
L868S |
possibly damaging |
Het |
Ndst1 |
G |
A |
18: 60,830,256 (GRCm39) |
T618M |
probably damaging |
Het |
Npas1 |
A |
T |
7: 16,194,899 (GRCm39) |
|
probably null |
Het |
Nr2f2 |
A |
T |
7: 70,004,499 (GRCm39) |
V384D |
probably damaging |
Het |
Or10a3b |
A |
G |
7: 108,444,528 (GRCm39) |
S230P |
probably benign |
Het |
Or1e19 |
A |
G |
11: 73,316,596 (GRCm39) |
L71P |
probably damaging |
Het |
Or4p8 |
T |
A |
2: 88,727,705 (GRCm39) |
I79F |
probably damaging |
Het |
Paip1 |
T |
A |
13: 119,582,337 (GRCm39) |
F188I |
probably damaging |
Het |
Pcdha4 |
A |
T |
18: 37,086,776 (GRCm39) |
I320L |
probably benign |
Het |
Peg10 |
TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC |
T |
6: 4,756,427 (GRCm39) |
|
probably null |
Het |
Pgpep1 |
C |
T |
8: 71,103,168 (GRCm39) |
G110R |
unknown |
Het |
Pidd1 |
T |
A |
7: 141,020,252 (GRCm39) |
H558L |
possibly damaging |
Het |
Ppp1r1a |
C |
T |
15: 103,439,776 (GRCm39) |
|
probably null |
Het |
Pramel18 |
T |
C |
4: 101,768,599 (GRCm39) |
S317P |
possibly damaging |
Het |
Pramel51 |
T |
A |
12: 88,142,850 (GRCm39) |
Y451F |
probably benign |
Het |
Prkcg |
A |
G |
7: 3,359,081 (GRCm39) |
D96G |
probably benign |
Het |
Prpf40b |
A |
G |
15: 99,203,899 (GRCm39) |
N154S |
probably benign |
Het |
Psg17 |
A |
G |
7: 18,553,897 (GRCm39) |
Y118H |
probably benign |
Het |
Ptpn12 |
A |
G |
5: 21,214,509 (GRCm39) |
I209T |
probably damaging |
Het |
Reln |
T |
A |
5: 22,181,276 (GRCm39) |
K1835* |
probably null |
Het |
Sf3b3 |
T |
C |
8: 111,564,915 (GRCm39) |
M298V |
probably benign |
Het |
Slc5a3 |
T |
A |
16: 91,874,682 (GRCm39) |
N246K |
probably benign |
Het |
Slmap |
T |
A |
14: 26,151,001 (GRCm39) |
E522D |
probably damaging |
Het |
Slmap |
C |
T |
14: 26,151,003 (GRCm39) |
E522K |
probably damaging |
Het |
Tcp10c |
T |
A |
17: 13,581,260 (GRCm39) |
L230Q |
probably damaging |
Het |
Tdo2 |
A |
G |
3: 81,878,942 (GRCm39) |
|
probably null |
Het |
Tet3 |
A |
T |
6: 83,381,623 (GRCm39) |
W182R |
probably damaging |
Het |
Tmem151a |
T |
A |
19: 5,121,895 (GRCm39) |
M35L |
unknown |
Het |
Tom1l2 |
TTGATGATG |
TTGATG |
11: 60,171,040 (GRCm39) |
|
probably benign |
Het |
Trak2 |
A |
T |
1: 58,960,227 (GRCm39) |
|
probably null |
Het |
Trappc11 |
T |
A |
8: 47,975,449 (GRCm39) |
E256D |
possibly damaging |
Het |
Trim62 |
C |
T |
4: 128,796,346 (GRCm39) |
T281I |
probably benign |
Het |
Trip13 |
T |
C |
13: 74,081,021 (GRCm39) |
E115G |
probably benign |
Het |
Trp63 |
A |
G |
16: 25,620,837 (GRCm39) |
T10A |
probably benign |
Het |
Urah |
A |
T |
7: 140,415,565 (GRCm39) |
H11L |
probably damaging |
Het |
Usp39 |
G |
A |
6: 72,319,891 (GRCm39) |
T109I |
probably damaging |
Het |
Wfikkn2 |
T |
C |
11: 94,128,738 (GRCm39) |
T468A |
probably benign |
Het |
Zfhx4 |
T |
G |
3: 5,477,875 (GRCm39) |
S3497A |
probably damaging |
Het |
Zfp85 |
C |
T |
13: 67,897,184 (GRCm39) |
R296H |
probably benign |
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 |
R5228:Kcnh4
|
UTSW |
11 |
100,637,722 (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 |
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'- TCAACCGGTGTAGGACAGTC -3'
(R):5'- GCCACTGAGAAACCTAGGAG -3'
Sequencing Primer
(F):5'- TAGGACAGTCCGGTTCTGC -3'
(R):5'- TGAACGGGGATGCTCATGC -3'
|
Posted On |
2019-10-17 |