Incidental Mutation 'R9645:Kcnh5'
ID |
726232 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9645 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
74943994-75224106 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75134191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 453
(M453V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
AlphaFold |
Q920E3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042299
AA Change: M453V
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000046864 Gene: ENSMUSG00000034402 AA Change: M453V
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 |
|
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.] 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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
T |
C |
5: 138,644,793 (GRCm39) |
V226A |
probably benign |
Het |
Acan |
G |
T |
7: 78,749,653 (GRCm39) |
V1475F |
probably benign |
Het |
Acin1 |
T |
A |
14: 54,901,913 (GRCm39) |
R626S |
probably benign |
Het |
Aff3 |
T |
C |
1: 38,249,121 (GRCm39) |
K662R |
probably damaging |
Het |
Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
Ano9 |
T |
G |
7: 140,687,388 (GRCm39) |
N309T |
probably benign |
Het |
Ap3d1 |
G |
A |
10: 80,545,062 (GRCm39) |
S1092L |
probably benign |
Het |
B4galt7 |
C |
T |
13: 55,756,556 (GRCm39) |
H257Y |
probably damaging |
Het |
BC051665 |
G |
T |
13: 60,932,545 (GRCm39) |
Q47K |
possibly damaging |
Het |
Brip1 |
A |
G |
11: 85,952,512 (GRCm39) |
F1090L |
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,494,543 (GRCm39) |
V1612A |
probably benign |
Het |
Ccar1 |
A |
T |
10: 62,602,369 (GRCm39) |
D434E |
probably benign |
Het |
Ccdc15 |
T |
C |
9: 37,227,083 (GRCm39) |
D297G |
probably benign |
Het |
Celsr3 |
C |
A |
9: 108,704,691 (GRCm39) |
Y391* |
probably null |
Het |
Cfap52 |
A |
G |
11: 67,837,179 (GRCm39) |
I194T |
possibly damaging |
Het |
Ctif |
T |
C |
18: 75,757,352 (GRCm39) |
E67G |
probably benign |
Het |
Cxcr6 |
T |
C |
9: 123,639,151 (GRCm39) |
F58L |
possibly damaging |
Het |
Cyp2c69 |
T |
C |
19: 39,869,593 (GRCm39) |
E142G |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,115,750 (GRCm39) |
R1549S |
possibly damaging |
Het |
Duxf3 |
A |
T |
10: 58,066,803 (GRCm39) |
H75Q |
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,051,052 (GRCm39) |
I500N |
probably damaging |
Het |
F13a1 |
A |
T |
13: 37,082,154 (GRCm39) |
S517T |
probably benign |
Het |
Fbln7 |
C |
T |
2: 128,719,316 (GRCm39) |
R38C |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,667,629 (GRCm39) |
N788S |
probably benign |
Het |
Foxc1 |
A |
T |
13: 31,991,882 (GRCm39) |
E231V |
probably damaging |
Het |
Gal3st2b |
T |
C |
1: 93,866,328 (GRCm39) |
S10P |
probably damaging |
Het |
Gm6899 |
G |
A |
11: 26,543,592 (GRCm39) |
C53Y |
unknown |
Het |
Hps3 |
T |
C |
3: 20,084,831 (GRCm39) |
E119G |
probably benign |
Het |
Impg2 |
A |
G |
16: 56,038,767 (GRCm39) |
E135G |
probably damaging |
Het |
Kalrn |
G |
A |
16: 34,032,583 (GRCm39) |
T1155M |
probably benign |
Het |
Kcna6 |
G |
A |
6: 126,716,022 (GRCm39) |
A289V |
probably benign |
Het |
Krt222 |
A |
G |
11: 99,131,320 (GRCm39) |
V75A |
possibly damaging |
Het |
Lmtk3 |
A |
T |
7: 45,450,431 (GRCm39) |
T1432S |
unknown |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Ltbp3 |
C |
G |
19: 5,802,099 (GRCm39) |
N758K |
probably damaging |
Het |
Map6d1 |
T |
A |
16: 20,055,377 (GRCm39) |
H153L |
possibly damaging |
Het |
Mefv |
A |
G |
16: 3,528,782 (GRCm39) |
L583P |
probably damaging |
Het |
Mrps28 |
T |
C |
3: 8,867,389 (GRCm39) |
T160A |
probably damaging |
Het |
Mtcl2 |
T |
C |
2: 156,869,390 (GRCm39) |
K1082E |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,217,783 (GRCm39) |
T2297A |
possibly damaging |
Het |
Mx1 |
G |
T |
16: 97,253,409 (GRCm39) |
D338E |
probably benign |
Het |
Myom1 |
G |
A |
17: 71,399,204 (GRCm39) |
R1120H |
probably benign |
Het |
Nif3l1 |
T |
C |
1: 58,487,074 (GRCm39) |
F87L |
probably benign |
Het |
Or1e35 |
T |
A |
11: 73,797,713 (GRCm39) |
M202L |
probably benign |
Het |
Or4p22 |
T |
C |
2: 88,317,373 (GRCm39) |
V99A |
possibly damaging |
Het |
Pex10 |
T |
A |
4: 155,153,264 (GRCm39) |
L111Q |
probably damaging |
Het |
Phf1 |
T |
C |
17: 27,154,130 (GRCm39) |
|
probably null |
Het |
Pigp |
A |
T |
16: 94,166,278 (GRCm39) |
Y143* |
probably null |
Het |
Pou2af2 |
A |
G |
9: 51,229,579 (GRCm39) |
|
probably null |
Het |
Prrc2a |
A |
G |
17: 35,381,176 (GRCm39) |
|
probably null |
Het |
Psd |
GCC |
GC |
19: 46,301,841 (GRCm39) |
|
probably null |
Het |
Pum3 |
A |
G |
19: 27,403,412 (GRCm39) |
S30P |
probably benign |
Het |
Rab12 |
A |
G |
17: 66,826,421 (GRCm39) |
S97P |
probably damaging |
Het |
Rigi |
T |
C |
4: 40,220,437 (GRCm39) |
E482G |
possibly damaging |
Het |
Ros1 |
A |
G |
10: 51,948,148 (GRCm39) |
|
probably null |
Het |
Scp2 |
A |
T |
4: 107,948,519 (GRCm39) |
Y197N |
probably benign |
Het |
Serpinb10 |
T |
C |
1: 107,474,488 (GRCm39) |
F217L |
possibly damaging |
Het |
Shank3 |
T |
G |
15: 89,409,453 (GRCm39) |
M604R |
possibly damaging |
Het |
Slc22a29 |
A |
G |
19: 8,184,488 (GRCm39) |
S238P |
probably benign |
Het |
Smarcc1 |
A |
G |
9: 109,986,410 (GRCm39) |
D237G |
probably damaging |
Het |
Stag3 |
T |
C |
5: 138,299,701 (GRCm39) |
S871P |
possibly damaging |
Het |
Tmem132d |
A |
G |
5: 128,346,075 (GRCm39) |
F149S |
probably damaging |
Het |
Tmem25 |
C |
T |
9: 44,706,515 (GRCm39) |
E333K |
|
Het |
Togaram1 |
T |
A |
12: 65,066,082 (GRCm39) |
Y1695* |
probably null |
Het |
Tox3 |
G |
A |
8: 90,984,574 (GRCm39) |
P202S |
probably damaging |
Het |
Trim34b |
T |
A |
7: 103,980,474 (GRCm39) |
N187K |
probably benign |
Het |
Vcan |
A |
G |
13: 89,841,081 (GRCm39) |
S1488P |
probably benign |
Het |
Vps26a |
A |
C |
10: 62,305,791 (GRCm39) |
V124G |
probably benign |
Het |
Vps50 |
T |
G |
6: 3,516,706 (GRCm39) |
S63A |
possibly damaging |
Het |
Wbp4 |
T |
A |
14: 79,707,553 (GRCm39) |
E186V |
possibly damaging |
Het |
Zfp52 |
A |
G |
17: 21,781,937 (GRCm39) |
D595G |
possibly damaging |
Het |
Zfr2 |
C |
A |
10: 81,084,252 (GRCm39) |
S1* |
probably null |
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 |
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 |
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'- CGCAGACTTCCCAATCTGAG -3'
(R):5'- CATTGGGACCCCATATCGCTAC -3'
Sequencing Primer
(F):5'- CACACAGTTTTTCATGTGCTAATGC -3'
(R):5'- TATCGCTACAATACGAGTGCAG -3'
|
Posted On |
2022-09-12 |