Incidental Mutation 'R8560:Kcnh5'
| ID |
661007 |
| 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 |
068523-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8560 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
74943994-75224106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 75023379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 563
(A563E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
| AlphaFold |
Q920E3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042299
AA Change: A563E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: A563E
| 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: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
98% (62/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,958,374 (GRCm39) |
V819A |
unknown |
Het |
| Ahi1 |
T |
C |
10: 20,835,814 (GRCm39) |
V49A |
probably benign |
Het |
| BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
| Ccdc87 |
C |
T |
19: 4,891,901 (GRCm39) |
R798W |
probably damaging |
Het |
| Cd163 |
T |
C |
6: 124,294,360 (GRCm39) |
L506S |
possibly damaging |
Het |
| Chsy3 |
T |
C |
18: 59,543,130 (GRCm39) |
V756A |
possibly damaging |
Het |
| Cisd3 |
G |
T |
11: 97,576,689 (GRCm39) |
W5L |
possibly damaging |
Het |
| Coro1c |
A |
T |
5: 113,984,249 (GRCm39) |
H339Q |
probably damaging |
Het |
| Cybc1 |
G |
T |
11: 121,115,041 (GRCm39) |
A154D |
probably damaging |
Het |
| D630045J12Rik |
T |
A |
6: 38,126,649 (GRCm39) |
I1454F |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,603,144 (GRCm39) |
S448P |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,533,898 (GRCm39) |
|
probably null |
Het |
| Depdc1a |
A |
G |
3: 159,219,912 (GRCm39) |
K139E |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,714,132 (GRCm39) |
K1874R |
probably benign |
Het |
| Dst |
A |
G |
1: 34,307,970 (GRCm39) |
H4229R |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,202,375 (GRCm39) |
D512G |
probably damaging |
Het |
| Fastkd5 |
T |
A |
2: 130,457,865 (GRCm39) |
I242L |
probably benign |
Het |
| Foxo3 |
G |
A |
10: 42,151,278 (GRCm39) |
T51M |
possibly damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,900,863 (GRCm39) |
V59A |
possibly damaging |
Het |
| Gm14410 |
C |
A |
2: 176,885,445 (GRCm39) |
C273F |
probably damaging |
Het |
| Gucy1b1 |
G |
T |
3: 81,942,685 (GRCm39) |
P486T |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,265,106 (GRCm39) |
N2763S |
probably benign |
Het |
| Ifna2 |
C |
A |
4: 88,601,502 (GRCm39) |
W172L |
possibly damaging |
Het |
| Igkv6-29 |
T |
C |
6: 70,115,651 (GRCm39) |
N48D |
probably benign |
Het |
| Il17ra |
C |
A |
6: 120,459,226 (GRCm39) |
D792E |
possibly damaging |
Het |
| Klra4 |
C |
A |
6: 130,042,235 (GRCm39) |
V11L |
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,009,676 (GRCm39) |
E368G |
possibly damaging |
Het |
| Lrpprc |
T |
A |
17: 85,047,495 (GRCm39) |
|
probably benign |
Het |
| Mal2 |
T |
C |
15: 54,461,826 (GRCm39) |
I107T |
probably benign |
Het |
| Mc4r |
T |
C |
18: 66,992,166 (GRCm39) |
I316V |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,743,830 (GRCm39) |
V4022E |
probably benign |
Het |
| Med12l |
A |
G |
3: 58,945,026 (GRCm39) |
N84D |
probably damaging |
Het |
| Mx1 |
T |
G |
16: 97,253,987 (GRCm39) |
T298P |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,213,405 (GRCm39) |
E1367G |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,465,124 (GRCm39) |
E660G |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,274,316 (GRCm39) |
N242K |
probably benign |
Het |
| Nsun5 |
A |
G |
5: 135,404,743 (GRCm39) |
T435A |
probably benign |
Het |
| Or14j4 |
C |
T |
17: 37,920,949 (GRCm39) |
S231N |
possibly damaging |
Het |
| Or4q3 |
T |
A |
14: 50,583,794 (GRCm39) |
D4V |
probably benign |
Het |
| Or5b109 |
T |
C |
19: 13,211,656 (GRCm39) |
L14P |
possibly damaging |
Het |
| Pcdhb17 |
C |
T |
18: 37,619,206 (GRCm39) |
T332M |
possibly damaging |
Het |
| Pi4k2a |
C |
T |
19: 42,089,151 (GRCm39) |
Q171* |
probably null |
Het |
| Plb1 |
T |
C |
5: 32,460,023 (GRCm39) |
V421A |
possibly damaging |
Het |
| Prkag2 |
TTTTTTTTTTTTA |
T |
5: 25,071,063 (GRCm39) |
|
probably benign |
Het |
| Prlhr |
A |
G |
19: 60,456,635 (GRCm39) |
|
probably benign |
Het |
| Prpf8 |
T |
A |
11: 75,382,600 (GRCm39) |
C435* |
probably null |
Het |
| Rnf183 |
T |
A |
4: 62,346,735 (GRCm39) |
N21I |
probably damaging |
Het |
| Rnf41 |
T |
A |
10: 128,274,222 (GRCm39) |
C291* |
probably null |
Het |
| Shd |
T |
C |
17: 56,278,616 (GRCm39) |
S60P |
probably benign |
Het |
| Slc16a5 |
A |
G |
11: 115,360,545 (GRCm39) |
T243A |
probably benign |
Het |
| Slc33a1 |
A |
T |
3: 63,850,773 (GRCm39) |
I517N |
possibly damaging |
Het |
| Slc4a1 |
A |
C |
11: 102,244,083 (GRCm39) |
M682R |
possibly damaging |
Het |
| Sphk2 |
A |
T |
7: 45,361,514 (GRCm39) |
N245K |
probably damaging |
Het |
| Stx7 |
T |
C |
10: 24,057,454 (GRCm39) |
I160T |
possibly damaging |
Het |
| Thbs4 |
T |
C |
13: 92,891,608 (GRCm39) |
I836V |
probably damaging |
Het |
| Tmc5 |
A |
T |
7: 118,268,514 (GRCm39) |
N861Y |
probably damaging |
Het |
| Trappc5 |
T |
A |
8: 3,729,303 (GRCm39) |
W94R |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,715,295 (GRCm39) |
I673V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,571,615 (GRCm39) |
Y26426C |
probably damaging |
Het |
| Wdr81 |
C |
T |
11: 75,336,260 (GRCm39) |
G591R |
|
Het |
| Zfp236 |
G |
A |
18: 82,664,340 (GRCm39) |
R482W |
probably damaging |
Het |
| Zfp51 |
T |
A |
17: 21,685,635 (GRCm39) |
M750K |
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 |
|
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 |
|
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'- CTTGGGAAGCTAAAACTCCAGGAC -3'
(R):5'- TCAATCAGCATTTGTGGCATC -3'
Sequencing Primer
(F):5'- GACAGTGCCCCATTTGTCATTGAG -3'
(R):5'- AATCAGCATTTGTGGCATCTTTTTC -3'
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| Posted On |
2021-03-08 |
Incidental Mutation