Incidental Mutation 'R8390:Kcnh5'
| ID |
647344 |
| 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 |
067755-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8390 (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 A
at 75134532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 339
(D339V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
| AlphaFold |
Q920E3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042299
AA Change: D339V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: D339V
| 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: 99.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
A |
T |
5: 113,830,841 (GRCm39) |
F50I |
unknown |
Het |
| Abca9 |
A |
T |
11: 110,036,456 (GRCm39) |
M551K |
probably benign |
Het |
| Adgrl3 |
T |
C |
5: 81,914,057 (GRCm39) |
S1145P |
probably damaging |
Het |
| Brix1 |
C |
T |
15: 10,485,954 (GRCm39) |
R9H |
probably benign |
Het |
| C1d |
T |
C |
11: 17,213,993 (GRCm39) |
V83A |
probably damaging |
Het |
| Ciz1 |
G |
T |
2: 32,257,335 (GRCm39) |
V127L |
probably benign |
Het |
| Csnk1g3 |
A |
T |
18: 54,081,150 (GRCm39) |
T374S |
probably benign |
Het |
| Elavl1 |
T |
A |
8: 4,339,623 (GRCm39) |
K320* |
probably null |
Het |
| Foxn3 |
T |
A |
12: 99,355,000 (GRCm39) |
M55L |
probably benign |
Het |
| Gm14399 |
A |
T |
2: 174,972,605 (GRCm39) |
Y383* |
probably null |
Het |
| H2-M10.5 |
T |
A |
17: 37,085,487 (GRCm39) |
H215Q |
probably benign |
Het |
| Hsd17b13 |
C |
A |
5: 104,120,512 (GRCm39) |
C80F |
probably damaging |
Het |
| Ifi206 |
G |
T |
1: 173,308,511 (GRCm39) |
T495N |
|
Het |
| Ifi207 |
GTT |
GT |
1: 173,557,016 (GRCm39) |
|
probably null |
Het |
| Ipo13 |
A |
T |
4: 117,769,534 (GRCm39) |
I86N |
probably damaging |
Het |
| Iqcf3 |
T |
G |
9: 106,438,175 (GRCm39) |
E16A |
unknown |
Het |
| Lmbr1 |
C |
T |
5: 29,440,040 (GRCm39) |
M441I |
probably benign |
Het |
| Me3 |
G |
T |
7: 89,498,803 (GRCm39) |
G461V |
probably damaging |
Het |
| Mepce |
A |
G |
5: 137,783,441 (GRCm39) |
L295P |
possibly damaging |
Het |
| Mtpap |
T |
A |
18: 4,396,141 (GRCm39) |
Y478N |
probably damaging |
Het |
| Myl12a |
T |
C |
17: 71,303,231 (GRCm39) |
M74V |
probably benign |
Het |
| Neil3 |
A |
T |
8: 54,062,559 (GRCm39) |
M99K |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,442,616 (GRCm39) |
T723A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,892,870 (GRCm39) |
I6792N |
probably benign |
Het |
| Or13a19 |
G |
T |
7: 139,903,027 (GRCm39) |
W138C |
possibly damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,522 (GRCm39) |
L26P |
probably benign |
Het |
| Or5al7 |
A |
G |
2: 85,993,266 (GRCm39) |
V9A |
possibly damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,887 (GRCm39) |
Y123* |
probably null |
Het |
| Or8h10 |
G |
A |
2: 86,808,501 (GRCm39) |
T213I |
probably benign |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pitx2 |
C |
A |
3: 129,012,507 (GRCm39) |
N312K |
probably damaging |
Het |
| Pot1b |
C |
A |
17: 55,999,739 (GRCm39) |
V229L |
probably benign |
Het |
| Psmd1 |
A |
G |
1: 86,006,329 (GRCm39) |
I232V |
possibly damaging |
Het |
| Rif1 |
A |
G |
2: 52,000,935 (GRCm39) |
E1463G |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,368,604 (GRCm39) |
Y307F |
possibly damaging |
Het |
| Shprh |
G |
A |
10: 11,063,727 (GRCm39) |
E1267K |
possibly damaging |
Het |
| Smtnl1 |
A |
T |
2: 84,645,694 (GRCm39) |
Y392* |
probably null |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
A |
6: 48,444,896 (GRCm39) |
G2268R |
probably benign |
Het |
| Tex47 |
G |
A |
5: 7,355,301 (GRCm39) |
E161K |
probably benign |
Het |
| Timd6 |
G |
T |
11: 46,468,082 (GRCm39) |
R52L |
probably damaging |
Het |
| Tmem236 |
T |
C |
2: 14,224,168 (GRCm39) |
L319P |
probably damaging |
Het |
| Tnk1 |
T |
C |
11: 69,742,695 (GRCm39) |
T606A |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,761,794 (GRCm39) |
T81A |
probably damaging |
Het |
| Trav6d-4 |
A |
T |
14: 52,991,092 (GRCm39) |
T46S |
probably benign |
Het |
| Wdr19 |
T |
A |
5: 65,381,210 (GRCm39) |
Y411* |
probably null |
Het |
| Zfp553 |
A |
G |
7: 126,835,476 (GRCm39) |
T344A |
probably damaging |
Het |
| Zfp62 |
G |
A |
11: 49,106,019 (GRCm39) |
G37S |
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 |
|
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'- TCAAGGCCAACTGGTAGAGC -3'
(R):5'- CTGATGGAGATGCTTCAGCTAG -3'
Sequencing Primer
(F):5'- AGAGCCAGCTGTCTATTTGAATG -3'
(R):5'- TCAGCAGTCTCTTCAGCT -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation