Incidental Mutation 'R5747:Kcnh5'
ID |
445832 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnh5
|
Ensembl Gene |
ENSMUSG00000034402 |
Gene Name |
potassium voltage-gated channel, subfamily H (eag-related), member 5 |
Synonyms |
|
MMRRC Submission |
043354-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5747 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
74943994-75224106 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74945194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 685
(E685G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
AlphaFold |
Q920E3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042299
AA Change: E685G
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000046864 Gene: ENSMUSG00000034402 AA Change: E685G
Domain | Start | End | E-Value | Type |
PAS
|
14 |
86 |
8.97e0 |
SMART |
PAC
|
92 |
134 |
6.64e-7 |
SMART |
Pfam:Ion_trans
|
214 |
479 |
1.2e-37 |
PFAM |
Pfam:Ion_trans_2
|
390 |
473 |
5e-14 |
PFAM |
cNMP
|
550 |
668 |
2.48e-15 |
SMART |
low complexity region
|
710 |
717 |
N/A |
INTRINSIC |
coiled coil region
|
907 |
944 |
N/A |
INTRINSIC |
low complexity region
|
953 |
968 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2872 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (54/54) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] PHENOTYPE: Mice homozygous for a targeted gene disruption display thigmotaxis and abnormal startle reflex. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
A |
T |
1: 25,865,643 (GRCm39) |
Y67N |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,564,352 (GRCm39) |
T12A |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,466,836 (GRCm39) |
V1620A |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,735,400 (GRCm39) |
|
probably benign |
Het |
Ankrd34c |
C |
T |
9: 89,611,814 (GRCm39) |
V176M |
possibly damaging |
Het |
Arhgap39 |
C |
T |
15: 76,625,735 (GRCm39) |
D190N |
possibly damaging |
Het |
Cbl |
A |
G |
9: 44,112,416 (GRCm39) |
L93P |
probably damaging |
Het |
Crebl2 |
C |
T |
6: 134,828,103 (GRCm39) |
L92F |
probably damaging |
Het |
Dclre1a |
A |
G |
19: 56,529,964 (GRCm39) |
V791A |
probably damaging |
Het |
Dzip1l |
T |
A |
9: 99,521,862 (GRCm39) |
|
probably null |
Het |
Echs1 |
T |
C |
7: 139,691,725 (GRCm39) |
|
probably benign |
Het |
Eif1ad16 |
C |
T |
12: 87,985,366 (GRCm39) |
C59Y |
possibly damaging |
Het |
Epha4 |
A |
G |
1: 77,483,520 (GRCm39) |
I163T |
probably damaging |
Het |
Fdft1 |
A |
G |
14: 63,384,288 (GRCm39) |
S388P |
probably damaging |
Het |
Gbx2 |
A |
G |
1: 89,856,437 (GRCm39) |
S318P |
probably damaging |
Het |
Gkn1 |
T |
A |
6: 87,323,319 (GRCm39) |
T165S |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
Gm5093 |
T |
G |
17: 46,750,916 (GRCm39) |
E37A |
possibly damaging |
Het |
Gm527 |
A |
T |
12: 64,967,620 (GRCm39) |
N14I |
probably damaging |
Het |
Gnaz |
C |
T |
10: 74,827,235 (GRCm39) |
|
probably benign |
Het |
Grik2 |
T |
C |
10: 49,399,870 (GRCm39) |
T287A |
probably benign |
Het |
Gtf2h4 |
T |
C |
17: 35,981,273 (GRCm39) |
Y220C |
possibly damaging |
Het |
Igkv8-28 |
T |
C |
6: 70,121,141 (GRCm39) |
E2G |
probably benign |
Het |
Itgbl1 |
T |
A |
14: 124,209,576 (GRCm39) |
Y318* |
probably null |
Het |
Kctd18 |
A |
T |
1: 58,001,183 (GRCm39) |
|
probably benign |
Het |
Ldhal6b |
A |
C |
17: 5,468,094 (GRCm39) |
V280G |
probably damaging |
Het |
Ldhd |
T |
C |
8: 112,355,703 (GRCm39) |
T182A |
probably damaging |
Het |
Lman2l |
T |
C |
1: 36,464,038 (GRCm39) |
D272G |
possibly damaging |
Het |
Lrrc63 |
T |
C |
14: 75,363,904 (GRCm39) |
T76A |
probably benign |
Het |
Map3k3 |
A |
G |
11: 106,041,236 (GRCm39) |
T402A |
probably benign |
Het |
Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
Mob4 |
A |
G |
1: 55,187,737 (GRCm39) |
M68V |
probably damaging |
Het |
Or1j15 |
A |
T |
2: 36,458,979 (GRCm39) |
Y123F |
probably damaging |
Het |
Rassf8 |
A |
G |
6: 145,761,541 (GRCm39) |
E289G |
probably benign |
Het |
Rnf17 |
T |
C |
14: 56,703,276 (GRCm39) |
|
probably null |
Het |
Rp9 |
A |
G |
9: 22,359,960 (GRCm39) |
|
probably benign |
Het |
Rrm2b |
T |
C |
15: 37,927,634 (GRCm39) |
Q92R |
probably benign |
Het |
Sema6d |
C |
T |
2: 124,506,867 (GRCm39) |
P879S |
probably damaging |
Het |
Slc27a2 |
T |
A |
2: 126,406,658 (GRCm39) |
M114K |
probably benign |
Het |
Slc4a5 |
T |
A |
6: 83,248,011 (GRCm39) |
Y521N |
probably damaging |
Het |
Slc6a4 |
A |
T |
11: 76,901,337 (GRCm39) |
N24I |
probably damaging |
Het |
Spata13 |
T |
A |
14: 60,984,952 (GRCm39) |
D815E |
probably benign |
Het |
Spocd1 |
A |
G |
4: 129,848,738 (GRCm39) |
D656G |
probably damaging |
Het |
Susd1 |
T |
A |
4: 59,424,108 (GRCm39) |
N39I |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,894,853 (GRCm39) |
T417I |
probably benign |
Het |
Wdr31 |
C |
T |
4: 62,381,637 (GRCm39) |
V65I |
probably damaging |
Het |
Zfp783 |
T |
C |
6: 47,925,829 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Kcnh5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00470:Kcnh5
|
APN |
12 |
74,944,570 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00675:Kcnh5
|
APN |
12 |
75,160,963 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00688:Kcnh5
|
APN |
12 |
74,945,171 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00721:Kcnh5
|
APN |
12 |
75,054,450 (GRCm39) |
missense |
probably benign |
0.32 |
IGL00793:Kcnh5
|
APN |
12 |
75,161,120 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00802:Kcnh5
|
APN |
12 |
75,054,399 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL00920:Kcnh5
|
APN |
12 |
75,023,267 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01595:Kcnh5
|
APN |
12 |
74,945,101 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01642:Kcnh5
|
APN |
12 |
75,011,943 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01675:Kcnh5
|
APN |
12 |
75,161,274 (GRCm39) |
nonsense |
probably null |
|
IGL01733:Kcnh5
|
APN |
12 |
75,011,966 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02006:Kcnh5
|
APN |
12 |
74,944,322 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02075:Kcnh5
|
APN |
12 |
75,134,379 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02148:Kcnh5
|
APN |
12 |
74,944,426 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02155:Kcnh5
|
APN |
12 |
75,223,312 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02304:Kcnh5
|
APN |
12 |
75,023,471 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02957:Kcnh5
|
APN |
12 |
75,054,439 (GRCm39) |
missense |
probably benign |
0.01 |
R0305:Kcnh5
|
UTSW |
12 |
75,161,171 (GRCm39) |
missense |
probably benign |
0.00 |
R0470:Kcnh5
|
UTSW |
12 |
75,161,188 (GRCm39) |
missense |
probably benign |
0.22 |
R0553:Kcnh5
|
UTSW |
12 |
75,184,447 (GRCm39) |
missense |
probably benign |
0.00 |
R0557:Kcnh5
|
UTSW |
12 |
75,161,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R0590:Kcnh5
|
UTSW |
12 |
75,012,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R0697:Kcnh5
|
UTSW |
12 |
75,023,305 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0699:Kcnh5
|
UTSW |
12 |
75,023,305 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1512:Kcnh5
|
UTSW |
12 |
75,166,711 (GRCm39) |
missense |
probably benign |
|
R1728:Kcnh5
|
UTSW |
12 |
75,184,465 (GRCm39) |
missense |
probably benign |
0.18 |
R1739:Kcnh5
|
UTSW |
12 |
75,161,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R1784:Kcnh5
|
UTSW |
12 |
75,184,465 (GRCm39) |
missense |
probably benign |
0.18 |
R1956:Kcnh5
|
UTSW |
12 |
74,944,358 (GRCm39) |
missense |
probably benign |
0.01 |
R1957:Kcnh5
|
UTSW |
12 |
74,944,358 (GRCm39) |
missense |
probably benign |
0.01 |
R2155:Kcnh5
|
UTSW |
12 |
74,945,230 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2185:Kcnh5
|
UTSW |
12 |
75,177,705 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2237:Kcnh5
|
UTSW |
12 |
75,054,493 (GRCm39) |
missense |
probably benign |
0.00 |
R2239:Kcnh5
|
UTSW |
12 |
75,054,493 (GRCm39) |
missense |
probably benign |
0.00 |
R2483:Kcnh5
|
UTSW |
12 |
75,161,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R2655:Kcnh5
|
UTSW |
12 |
75,161,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R3767:Kcnh5
|
UTSW |
12 |
75,134,350 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3835:Kcnh5
|
UTSW |
12 |
74,945,044 (GRCm39) |
missense |
probably benign |
|
R4681:Kcnh5
|
UTSW |
12 |
75,054,397 (GRCm39) |
missense |
probably benign |
0.00 |
R4728:Kcnh5
|
UTSW |
12 |
75,054,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R4965:Kcnh5
|
UTSW |
12 |
75,011,925 (GRCm39) |
missense |
probably benign |
0.11 |
R5127:Kcnh5
|
UTSW |
12 |
74,944,858 (GRCm39) |
missense |
probably benign |
0.17 |
R5267:Kcnh5
|
UTSW |
12 |
75,134,190 (GRCm39) |
missense |
probably damaging |
0.98 |
R5535:Kcnh5
|
UTSW |
12 |
75,177,681 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5590:Kcnh5
|
UTSW |
12 |
75,023,463 (GRCm39) |
missense |
probably benign |
0.05 |
R5684:Kcnh5
|
UTSW |
12 |
75,184,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R6123:Kcnh5
|
UTSW |
12 |
75,134,365 (GRCm39) |
missense |
probably benign |
0.01 |
R6545:Kcnh5
|
UTSW |
12 |
75,054,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R6662:Kcnh5
|
UTSW |
12 |
75,054,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R7117:Kcnh5
|
UTSW |
12 |
75,161,219 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7161:Kcnh5
|
UTSW |
12 |
74,944,483 (GRCm39) |
missense |
probably benign |
0.10 |
R7437:Kcnh5
|
UTSW |
12 |
75,184,417 (GRCm39) |
critical splice donor site |
probably null |
|
R7557:Kcnh5
|
UTSW |
12 |
75,054,399 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7566:Kcnh5
|
UTSW |
12 |
75,161,166 (GRCm39) |
nonsense |
probably null |
|
R7591:Kcnh5
|
UTSW |
12 |
75,054,541 (GRCm39) |
missense |
probably benign |
0.24 |
R7781:Kcnh5
|
UTSW |
12 |
75,023,455 (GRCm39) |
missense |
probably damaging |
0.99 |
R7816:Kcnh5
|
UTSW |
12 |
75,023,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R8152:Kcnh5
|
UTSW |
12 |
74,944,633 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8390:Kcnh5
|
UTSW |
12 |
75,134,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R8560:Kcnh5
|
UTSW |
12 |
75,023,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R9056:Kcnh5
|
UTSW |
12 |
74,944,774 (GRCm39) |
missense |
probably benign |
0.00 |
R9064:Kcnh5
|
UTSW |
12 |
75,177,727 (GRCm39) |
nonsense |
probably null |
|
R9283:Kcnh5
|
UTSW |
12 |
75,023,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R9290:Kcnh5
|
UTSW |
12 |
75,023,488 (GRCm39) |
missense |
probably benign |
0.00 |
R9552:Kcnh5
|
UTSW |
12 |
75,023,334 (GRCm39) |
missense |
probably benign |
0.28 |
R9576:Kcnh5
|
UTSW |
12 |
74,944,307 (GRCm39) |
missense |
probably benign |
0.00 |
R9627:Kcnh5
|
UTSW |
12 |
75,160,990 (GRCm39) |
missense |
probably damaging |
0.99 |
R9645:Kcnh5
|
UTSW |
12 |
75,134,191 (GRCm39) |
missense |
probably benign |
0.32 |
R9650:Kcnh5
|
UTSW |
12 |
75,023,293 (GRCm39) |
missense |
probably benign |
0.32 |
Z1088:Kcnh5
|
UTSW |
12 |
75,012,069 (GRCm39) |
missense |
possibly damaging |
0.78 |
Z1088:Kcnh5
|
UTSW |
12 |
74,944,535 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Kcnh5
|
UTSW |
12 |
75,161,296 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Kcnh5
|
UTSW |
12 |
75,054,571 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACTGGTACCTGTGATGGAG -3'
(R):5'- TGTAGTCAGTCAGTGTCCCTG -3'
Sequencing Primer
(F):5'- AGGCTCCGTTCTGCAAAG -3'
(R):5'- GGTATATTGAATTGTTACGTGGCAAC -3'
|
Posted On |
2016-11-21 |