Incidental Mutation 'R7437:Kcnh5'
| ID |
576688 |
| 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 |
045513-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
74943994-75224106 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 75184417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
[ENSMUST00000042299]
|
| AlphaFold |
Q920E3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042299
|
| SMART Domains |
Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000042299
|
| SMART Domains |
Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
T |
17: 24,619,472 (GRCm39) |
I1192F |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,941,790 (GRCm39) |
S1160P |
probably benign |
Het |
| Adamtsl2 |
A |
G |
2: 26,979,721 (GRCm39) |
I297V |
probably damaging |
Het |
| Aebp1 |
T |
A |
11: 5,819,757 (GRCm39) |
F687L |
possibly damaging |
Het |
| Ahsa1 |
A |
G |
12: 87,314,930 (GRCm39) |
T28A |
probably damaging |
Het |
| Akap3 |
A |
T |
6: 126,842,618 (GRCm39) |
K412N |
probably damaging |
Het |
| Atl1 |
A |
G |
12: 69,978,396 (GRCm39) |
I123V |
probably benign |
Het |
| Atp10a |
G |
A |
7: 58,308,288 (GRCm39) |
R29H |
unknown |
Het |
| C4b |
T |
C |
17: 34,953,707 (GRCm39) |
D967G |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,795,429 (GRCm39) |
N416S |
probably damaging |
Het |
| Ccna2 |
T |
C |
3: 36,625,239 (GRCm39) |
|
probably benign |
Het |
| Cep70 |
T |
C |
9: 99,173,582 (GRCm39) |
L371P |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,230,753 (GRCm39) |
C958* |
probably null |
Het |
| Crlf2 |
T |
C |
5: 109,702,839 (GRCm39) |
D318G |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,658,072 (GRCm39) |
N14D |
probably benign |
Het |
| Dars1 |
A |
G |
1: 128,299,941 (GRCm39) |
Y348H |
possibly damaging |
Het |
| Dnah2 |
T |
C |
11: 69,389,453 (GRCm39) |
E813G |
probably damaging |
Het |
| Ebi3 |
T |
A |
17: 56,261,410 (GRCm39) |
M102K |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,066,493 (GRCm39) |
D2131G |
probably benign |
Het |
| Fam186a |
A |
T |
15: 99,840,775 (GRCm39) |
L1823H |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,583,569 (GRCm39) |
M309T |
probably benign |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ino80 |
A |
G |
2: 119,273,067 (GRCm39) |
S470P |
possibly damaging |
Het |
| Kif24 |
T |
C |
4: 41,404,687 (GRCm39) |
T438A |
possibly damaging |
Het |
| Kndc1 |
G |
A |
7: 139,488,959 (GRCm39) |
G205R |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,712,657 (GRCm39) |
Y3226N |
|
Het |
| Lrp1b |
G |
T |
2: 40,712,658 (GRCm39) |
D3225E |
|
Het |
| Megf10 |
G |
C |
18: 57,395,203 (GRCm39) |
G522R |
probably damaging |
Het |
| Nectin2 |
A |
T |
7: 19,483,193 (GRCm39) |
L12* |
probably null |
Het |
| Ngef |
A |
T |
1: 87,408,327 (GRCm39) |
M580K |
probably damaging |
Het |
| Oga |
A |
T |
19: 45,767,046 (GRCm39) |
M110K |
possibly damaging |
Het |
| Or10ag56 |
A |
G |
2: 87,139,687 (GRCm39) |
M205V |
probably benign |
Het |
| Or1e1c |
A |
G |
11: 73,265,844 (GRCm39) |
S93G |
probably benign |
Het |
| Or5an1b |
T |
C |
19: 12,299,472 (GRCm39) |
N240D |
probably damaging |
Het |
| Pcdhb13 |
T |
C |
18: 37,577,728 (GRCm39) |
L702P |
probably damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,145 (GRCm39) |
I312V |
probably benign |
Het |
| Pglyrp3 |
A |
G |
3: 91,937,985 (GRCm39) |
N265D |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,757,421 (GRCm39) |
V1539A |
probably damaging |
Het |
| Prxl2b |
C |
A |
4: 154,981,053 (GRCm39) |
C194F |
possibly damaging |
Het |
| Rcn2 |
T |
C |
9: 55,965,353 (GRCm39) |
L274P |
probably damaging |
Het |
| Rpp30 |
A |
G |
19: 36,081,838 (GRCm39) |
E267G |
possibly damaging |
Het |
| Rundc3a |
A |
G |
11: 102,289,230 (GRCm39) |
M134V |
probably damaging |
Het |
| Samd3 |
A |
T |
10: 26,146,004 (GRCm39) |
Q343L |
possibly damaging |
Het |
| Serpinb3c |
A |
T |
1: 107,199,444 (GRCm39) |
F359Y |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 95,110,994 (GRCm39) |
L604P |
probably benign |
Het |
| Strn3 |
A |
T |
12: 51,656,946 (GRCm39) |
H777Q |
probably damaging |
Het |
| Tap1 |
G |
A |
17: 34,409,616 (GRCm39) |
W284* |
probably null |
Het |
| Tlcd5 |
C |
T |
9: 43,023,080 (GRCm39) |
W91* |
probably null |
Het |
| Tmem181a |
A |
G |
17: 6,353,540 (GRCm39) |
D384G |
possibly damaging |
Het |
| Txndc12 |
T |
C |
4: 108,713,368 (GRCm39) |
S77P |
probably damaging |
Het |
| Wnt16 |
G |
A |
6: 22,288,560 (GRCm39) |
V19M |
probably benign |
Het |
| Zfp932 |
T |
A |
5: 110,157,880 (GRCm39) |
M526K |
probably benign |
Het |
| Zfp959 |
G |
T |
17: 56,205,334 (GRCm39) |
C457F |
probably damaging |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,346,863 (GRCm39) |
S300P |
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 |
|
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 |
|
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'- CCATGTTTGTTTCCATTCTTCAAGAGG -3'
(R):5'- TGGGGACATCGTTTAAGGC -3'
Sequencing Primer
(F):5'- CTTCAAGAGGATCTTTTCAAGGG -3'
(R):5'- CATCGTTTAAGGCAAAATGAAATCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation