Incidental Mutation 'R9056:Kcnh5'
| ID |
688704 |
| 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 |
068882-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9056 (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 74944774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 825
(K825R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
| AlphaFold |
Q920E3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042299
AA Change: K825R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: K825R
| 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: 98.0%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,414,921 (GRCm39) |
I3996T |
probably damaging |
Het |
| Adgra1 |
A |
G |
7: 139,432,492 (GRCm39) |
N110S |
probably damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,427,017 (GRCm39) |
T612A |
probably benign |
Het |
| Atp13a4 |
C |
T |
16: 29,290,706 (GRCm39) |
|
probably null |
Het |
| C1rb |
T |
C |
6: 124,553,984 (GRCm39) |
S352P |
probably damaging |
Het |
| Cc2d2b |
T |
C |
19: 40,784,216 (GRCm39) |
I671T |
unknown |
Het |
| Cmas |
A |
G |
6: 142,710,105 (GRCm39) |
D116G |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,021,009 (GRCm39) |
V460A |
probably damaging |
Het |
| Cracdl |
G |
A |
1: 37,663,553 (GRCm39) |
R782C |
possibly damaging |
Het |
| Cubn |
T |
G |
2: 13,461,466 (GRCm39) |
D687A |
probably damaging |
Het |
| Cul9 |
A |
C |
17: 46,854,696 (GRCm39) |
V2G |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,797,582 (GRCm39) |
Y382C |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,310,249 (GRCm39) |
I443K |
|
Het |
| Fdps |
G |
A |
3: 89,006,639 (GRCm39) |
R84W |
probably benign |
Het |
| Helz |
C |
T |
11: 107,547,019 (GRCm39) |
A1112V |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,380,782 (GRCm39) |
M3553K |
probably benign |
Het |
| Hspa12a |
T |
C |
19: 58,813,720 (GRCm39) |
Y135C |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,849 (GRCm39) |
Y296C |
probably benign |
Het |
| Ifna12 |
T |
G |
4: 88,521,079 (GRCm39) |
E156A |
possibly damaging |
Het |
| Ilf3 |
C |
T |
9: 21,314,434 (GRCm39) |
Q689* |
probably null |
Het |
| Ints1 |
A |
G |
5: 139,760,041 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
A |
2: 12,235,019 (GRCm39) |
D413V |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,574,290 (GRCm39) |
L492F |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,700,214 (GRCm39) |
I194T |
possibly damaging |
Het |
| Kmo |
A |
G |
1: 175,465,108 (GRCm39) |
R30G |
probably damaging |
Het |
| Krtap19-4 |
C |
A |
16: 88,681,801 (GRCm39) |
G52C |
unknown |
Het |
| Ksr1 |
A |
G |
11: 78,918,465 (GRCm39) |
V563A |
possibly damaging |
Het |
| Lyn |
A |
T |
4: 3,780,925 (GRCm39) |
M355L |
possibly damaging |
Het |
| Med13 |
A |
T |
11: 86,189,660 (GRCm39) |
L1083* |
probably null |
Het |
| Mfsd13a |
A |
G |
19: 46,354,900 (GRCm39) |
T26A |
probably benign |
Het |
| Mup14 |
T |
C |
4: 61,259,430 (GRCm39) |
I41V |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,804,906 (GRCm39) |
S1466T |
probably benign |
Het |
| Nampt |
T |
C |
12: 32,888,458 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
C |
1: 60,317,885 (GRCm39) |
Y1941H |
probably damaging |
Het |
| Nyap2 |
C |
T |
1: 81,314,314 (GRCm39) |
A670V |
probably benign |
Het |
| Or10h28 |
A |
G |
17: 33,487,794 (GRCm39) |
Y32C |
probably damaging |
Het |
| Or2aj6 |
A |
G |
16: 19,443,791 (GRCm39) |
S20P |
probably benign |
Het |
| Or4k44 |
T |
C |
2: 111,368,488 (GRCm39) |
I49V |
probably benign |
Het |
| Or4m1 |
T |
C |
14: 50,557,999 (GRCm39) |
I98V |
probably damaging |
Het |
| Or8g31-ps1 |
T |
C |
9: 39,276,416 (GRCm39) |
V187A |
unknown |
Het |
| Pcdh15 |
A |
G |
10: 74,221,731 (GRCm39) |
D677G |
probably damaging |
Het |
| Pogz |
T |
A |
3: 94,787,530 (GRCm39) |
S1373T |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,288,613 (GRCm39) |
D691G |
probably benign |
Het |
| Qpctl |
T |
A |
7: 18,880,961 (GRCm39) |
D157V |
probably damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,810,677 (GRCm39) |
F60L |
possibly damaging |
Het |
| Ripor1 |
T |
A |
8: 106,344,072 (GRCm39) |
L402Q |
possibly damaging |
Het |
| Rptn |
C |
T |
3: 93,304,412 (GRCm39) |
H582Y |
probably benign |
Het |
| Rusc1 |
T |
A |
3: 88,996,990 (GRCm39) |
Q611L |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,610,817 (GRCm39) |
V4003A |
possibly damaging |
Het |
| Siglech |
T |
A |
7: 55,422,294 (GRCm39) |
W300R |
probably benign |
Het |
| Slc25a51 |
T |
C |
4: 45,399,494 (GRCm39) |
D232G |
probably damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,220,905 (GRCm39) |
C479S |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,127,101 (GRCm39) |
T1970A |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,450,608 (GRCm39) |
G2599V |
probably damaging |
Het |
| Tfpt |
T |
A |
7: 3,627,604 (GRCm39) |
E116V |
probably null |
Het |
| Tmem260 |
T |
A |
14: 48,717,774 (GRCm39) |
V121E |
probably benign |
Het |
| Tmem54 |
T |
C |
4: 129,002,120 (GRCm39) |
F45L |
probably benign |
Het |
| Trim2 |
T |
A |
3: 84,080,128 (GRCm39) |
N631I |
probably damaging |
Het |
| Tshr |
C |
T |
12: 91,474,563 (GRCm39) |
T179I |
probably damaging |
Het |
| Vmn1r40 |
A |
G |
6: 89,691,198 (GRCm39) |
N5S |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,871,420 (GRCm39) |
V621A |
possibly damaging |
Het |
| Zc2hc1c |
TTTATCC |
T |
12: 85,343,230 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
G |
A |
5: 106,783,944 (GRCm39) |
Q837* |
probably null |
Het |
| Zfp773 |
A |
T |
7: 7,135,989 (GRCm39) |
N202K |
probably damaging |
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 |
|
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'- AAAGAATGCTTGACATCAGCCTG -3'
(R):5'- TGGCGTATGTGAAAACCAGC -3'
Sequencing Primer
(F):5'- TTCTAGAGGACTTCGGGCC -3'
(R):5'- CGTATGTGAAAACCAGCGAGTCTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation