Incidental Mutation 'R2237:Kcnh5'
| ID |
240485 |
| 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 |
040237-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2237 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
74943994-75224106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75054493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 484
(M484L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
| AlphaFold |
Q920E3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042299
AA Change: M484L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: M484L
| 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 |
0.0669 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,136,303 (GRCm39) |
E406G |
probably benign |
Het |
| Alox8 |
A |
C |
11: 69,076,597 (GRCm39) |
S572A |
probably benign |
Het |
| Aoah |
G |
A |
13: 20,978,481 (GRCm39) |
|
probably benign |
Het |
| Arhgap36 |
G |
T |
X: 48,582,282 (GRCm39) |
V60L |
possibly damaging |
Het |
| Arhgef37 |
T |
A |
18: 61,637,477 (GRCm39) |
Y395F |
probably damaging |
Het |
| Bard1 |
G |
A |
1: 71,114,135 (GRCm39) |
P282L |
probably damaging |
Het |
| Brd7 |
T |
A |
8: 89,073,541 (GRCm39) |
E283V |
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,553,302 (GRCm39) |
I387V |
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,360,394 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
T |
C |
6: 118,629,704 (GRCm39) |
Q1205R |
possibly damaging |
Het |
| Camsap2 |
A |
T |
1: 136,273,069 (GRCm39) |
L36Q |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,834,219 (GRCm39) |
F261L |
probably benign |
Het |
| Cd200r4 |
T |
A |
16: 44,641,260 (GRCm39) |
M1K |
probably null |
Het |
| Cdca7l |
A |
G |
12: 117,837,761 (GRCm39) |
E237G |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,314,341 (GRCm39) |
T146A |
probably benign |
Het |
| Clhc1 |
T |
G |
11: 29,519,329 (GRCm39) |
S379A |
probably benign |
Het |
| Dbf4 |
T |
A |
5: 8,458,542 (GRCm39) |
I158L |
possibly damaging |
Het |
| Deup1 |
A |
C |
9: 15,486,597 (GRCm39) |
I455S |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,967,259 (GRCm39) |
|
probably null |
Het |
| Eomes |
A |
G |
9: 118,311,359 (GRCm39) |
D394G |
probably damaging |
Het |
| Epn1 |
A |
G |
7: 5,100,601 (GRCm39) |
N518S |
probably damaging |
Het |
| Espl1 |
G |
A |
15: 102,224,004 (GRCm39) |
R1185H |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,535,527 (GRCm39) |
S401P |
probably benign |
Het |
| Fbxw15 |
A |
G |
9: 109,384,303 (GRCm39) |
S403P |
probably damaging |
Het |
| Hsd17b1 |
G |
A |
11: 100,970,652 (GRCm39) |
V236M |
probably damaging |
Het |
| Htatsf1 |
G |
T |
X: 56,111,864 (GRCm39) |
D642Y |
unknown |
Het |
| Iqca1l |
A |
T |
5: 24,753,292 (GRCm39) |
N453K |
probably benign |
Het |
| Itpripl2 |
T |
C |
7: 118,089,294 (GRCm39) |
T422A |
probably benign |
Het |
| Izumo4 |
T |
C |
10: 80,538,664 (GRCm39) |
S39P |
probably damaging |
Het |
| Kctd8 |
T |
A |
5: 69,267,752 (GRCm39) |
I453F |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,584,020 (GRCm39) |
T152A |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,941,733 (GRCm39) |
V1809A |
possibly damaging |
Het |
| L3mbtl2 |
A |
T |
15: 81,568,531 (GRCm39) |
T512S |
probably benign |
Het |
| Ltbp1 |
C |
A |
17: 75,617,158 (GRCm39) |
D1032E |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,278,055 (GRCm39) |
F633S |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,415,826 (GRCm39) |
I2924S |
probably benign |
Het |
| Nfe2l2 |
G |
A |
2: 75,506,898 (GRCm39) |
P401S |
probably benign |
Het |
| Nid1 |
T |
C |
13: 13,675,070 (GRCm39) |
V930A |
probably benign |
Het |
| Nt5c1b |
C |
A |
12: 10,425,558 (GRCm39) |
T309K |
probably damaging |
Het |
| Nt5m |
A |
G |
11: 59,743,696 (GRCm39) |
K108R |
probably benign |
Het |
| Or10v5 |
T |
C |
19: 11,805,814 (GRCm39) |
D192G |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,192 (GRCm39) |
D196G |
probably damaging |
Het |
| Osbpl9 |
T |
A |
4: 109,013,854 (GRCm39) |
Q80L |
probably damaging |
Het |
| Osm |
A |
G |
11: 4,188,505 (GRCm39) |
N44S |
possibly damaging |
Het |
| Pclo |
C |
T |
5: 14,763,952 (GRCm39) |
P4142S |
unknown |
Het |
| Pdlim2 |
T |
G |
14: 70,408,698 (GRCm39) |
T173P |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,668,915 (GRCm39) |
|
probably null |
Het |
| Phka2 |
A |
G |
X: 159,324,408 (GRCm39) |
E254G |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,923,081 (GRCm39) |
Y984H |
probably damaging |
Het |
| Plscr2 |
T |
C |
9: 92,172,877 (GRCm39) |
C179R |
probably damaging |
Het |
| Rbpms2 |
C |
A |
9: 65,558,893 (GRCm39) |
Y183* |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,677,146 (GRCm39) |
E3235V |
probably benign |
Het |
| Sesn3 |
T |
C |
9: 14,219,761 (GRCm39) |
V50A |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,004,409 (GRCm39) |
V246A |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,241 (GRCm39) |
M313K |
possibly damaging |
Het |
| Spata4 |
A |
C |
8: 55,055,664 (GRCm39) |
K185T |
probably benign |
Het |
| Spin2c |
A |
G |
X: 152,616,672 (GRCm39) |
I162V |
probably damaging |
Het |
| Stac |
G |
A |
9: 111,519,190 (GRCm39) |
|
probably benign |
Het |
| Tas1r3 |
A |
T |
4: 155,946,675 (GRCm39) |
M310K |
possibly damaging |
Het |
| Tenm3 |
G |
A |
8: 48,795,372 (GRCm39) |
P585L |
probably damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,537,421 (GRCm39) |
S81T |
possibly damaging |
Het |
| Topaz1 |
C |
T |
9: 122,600,212 (GRCm39) |
T984I |
probably benign |
Het |
| Ttll2 |
G |
A |
17: 7,619,522 (GRCm39) |
T135I |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,170,101 (GRCm39) |
S1584G |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r80 |
G |
A |
10: 79,004,104 (GRCm39) |
E106K |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,475,090 (GRCm39) |
H643R |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,456,099 (GRCm39) |
Q1354* |
probably null |
Het |
| Zpld2 |
A |
C |
4: 133,929,516 (GRCm39) |
M263R |
unknown |
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 |
|
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 |
|
R5747:Kcnh5
|
UTSW |
12 |
74,945,194 (GRCm39) |
missense |
probably benign |
0.04 |
|
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'- CACAGGGCAATTGTGAATGG -3'
(R):5'- GCAGTGTAGTCAGGACTTCC -3'
Sequencing Primer
(F):5'- TGTGAATGGGAAATGTACATACATC -3'
(R):5'- CAGCTCTTCTTTATGCAACTAT -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation