Incidental Mutation 'R1614:Kcnh7'
| ID |
176979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnh7
|
| Ensembl Gene |
ENSMUSG00000059742 |
| Gene Name |
potassium voltage-gated channel, subfamily H (eag-related), member 7 |
| Synonyms |
erg3, 9330137I11Rik, Kv11.3 |
| MMRRC Submission |
039651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R1614 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
62524428-63014980 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 62680948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 213
(A213E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075052]
[ENSMUST00000112452]
[ENSMUST00000112454]
|
| AlphaFold |
Q9ER47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075052
AA Change: A213E
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742
AA Change: A213E
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
20 |
87 |
8.97e0 |
SMART |
|
PAC
|
93 |
135 |
3.48e-1 |
SMART |
|
Pfam:Ion_trans
|
407 |
674 |
4.9e-39 |
PFAM |
|
Pfam:Ion_trans_2
|
588 |
668 |
3.2e-13 |
PFAM |
|
cNMP
|
745 |
863 |
1.5e-23 |
SMART |
|
low complexity region
|
921 |
940 |
N/A |
INTRINSIC |
|
coiled coil region
|
1022 |
1058 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1127 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112452
AA Change: A213E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000108071
Gene: ENSMUSG00000059742
AA Change: A213E
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
20 |
87 |
8.97e0 |
SMART |
|
PAC
|
93 |
135 |
3.48e-1 |
SMART |
|
Blast:MYSc
|
309 |
426 |
4e-24 |
BLAST |
|
low complexity region
|
446 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112454
AA Change: A213E
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000108073
Gene: ENSMUSG00000059742
AA Change: A213E
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
20 |
87 |
8.97e0 |
SMART |
|
PAC
|
93 |
135 |
3.48e-1 |
SMART |
|
Blast:MYSc
|
316 |
433 |
3e-24 |
BLAST |
|
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0663 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.4%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl9 |
A |
G |
5: 77,158,412 (GRCm39) |
T165A |
probably benign |
Het |
| Atpaf1 |
A |
T |
4: 115,653,954 (GRCm39) |
K201N |
possibly damaging |
Het |
| Cacna1b |
G |
T |
2: 24,580,819 (GRCm39) |
Q676K |
possibly damaging |
Het |
| Ccdc88c |
A |
T |
12: 100,879,243 (GRCm39) |
H1959Q |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,094,985 (GRCm39) |
D808G |
probably damaging |
Het |
| Chct1 |
T |
G |
11: 85,063,690 (GRCm39) |
S28A |
possibly damaging |
Het |
| Chtf18 |
A |
G |
17: 25,946,064 (GRCm39) |
L42P |
probably benign |
Het |
| Cox7c |
A |
G |
13: 86,193,904 (GRCm39) |
F40L |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,949,517 (GRCm39) |
V442I |
probably benign |
Het |
| Dst |
T |
C |
1: 34,314,344 (GRCm39) |
F4198S |
probably damaging |
Het |
| Fam13a |
T |
A |
6: 58,917,169 (GRCm39) |
D569V |
probably damaging |
Het |
| Gm6741 |
T |
A |
17: 91,544,424 (GRCm39) |
H62Q |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,250,451 (GRCm39) |
T172A |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,751,172 (GRCm39) |
S1013P |
probably damaging |
Het |
| Insl5 |
A |
T |
4: 102,883,846 (GRCm39) |
L25* |
probably null |
Het |
| Ipo13 |
A |
G |
4: 117,761,815 (GRCm39) |
S462P |
probably benign |
Het |
| Itgb1 |
G |
A |
8: 129,446,546 (GRCm39) |
C401Y |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Mesp2 |
T |
C |
7: 79,461,367 (GRCm39) |
S231P |
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,510,511 (GRCm39) |
N164D |
possibly damaging |
Het |
| Nop53 |
A |
G |
7: 15,679,890 (GRCm39) |
V30A |
probably benign |
Het |
| Or1j17 |
T |
G |
2: 36,578,321 (GRCm39) |
Y102* |
probably null |
Het |
| Or4a73 |
T |
A |
2: 89,421,040 (GRCm39) |
I140L |
possibly damaging |
Het |
| Or4f54 |
T |
A |
2: 111,123,411 (GRCm39) |
V266E |
probably damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,862 (GRCm39) |
C189S |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,492,620 (GRCm39) |
R918C |
probably damaging |
Het |
| Pecam1 |
T |
C |
11: 106,571,905 (GRCm39) |
D554G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,634,199 (GRCm39) |
I744V |
possibly damaging |
Het |
| Pop1 |
C |
A |
15: 34,530,356 (GRCm39) |
A918D |
possibly damaging |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Prmt3 |
A |
T |
7: 49,476,467 (GRCm39) |
I359F |
possibly damaging |
Het |
| Proz |
G |
A |
8: 13,116,904 (GRCm39) |
C152Y |
probably damaging |
Het |
| Ptgfr |
A |
C |
3: 151,507,416 (GRCm39) |
Y316D |
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,230,532 (GRCm39) |
S1011Y |
probably damaging |
Het |
| Rnf43 |
C |
T |
11: 87,622,485 (GRCm39) |
R529* |
probably null |
Het |
| Slc17a6 |
G |
A |
7: 51,296,025 (GRCm39) |
|
probably benign |
Het |
| Slc25a19 |
A |
T |
11: 115,507,449 (GRCm39) |
C224* |
probably null |
Het |
| Smarcd3 |
A |
G |
5: 24,799,874 (GRCm39) |
S299P |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,528,156 (GRCm39) |
F1471S |
possibly damaging |
Het |
| Strada |
A |
C |
11: 106,059,145 (GRCm39) |
V211G |
probably damaging |
Het |
| Tom1l1 |
T |
C |
11: 90,574,080 (GRCm39) |
E68G |
probably damaging |
Het |
| Vmn2r27 |
T |
G |
6: 124,200,893 (GRCm39) |
I355L |
probably benign |
Het |
| Vmn2r68 |
A |
T |
7: 84,870,946 (GRCm39) |
M779K |
possibly damaging |
Het |
| Zbtb18 |
T |
C |
1: 177,274,736 (GRCm39) |
L23P |
probably damaging |
Het |
| Zfp112 |
G |
T |
7: 23,826,024 (GRCm39) |
C664F |
probably damaging |
Het |
| Zfp955a |
A |
T |
17: 33,461,306 (GRCm39) |
N275K |
possibly damaging |
Het |
|
| Other mutations in Kcnh7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Kcnh7
|
APN |
2 |
62,595,035 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00693:Kcnh7
|
APN |
2 |
62,564,598 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00776:Kcnh7
|
APN |
2 |
62,680,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00956:Kcnh7
|
APN |
2 |
62,607,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01651:Kcnh7
|
APN |
2 |
62,564,628 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01780:Kcnh7
|
APN |
2 |
62,667,507 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01859:Kcnh7
|
APN |
2 |
62,552,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02213:Kcnh7
|
APN |
2 |
62,569,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02302:Kcnh7
|
APN |
2 |
62,536,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02526:Kcnh7
|
APN |
2 |
62,680,781 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02850:Kcnh7
|
APN |
2 |
62,618,029 (GRCm39) |
nonsense |
probably null |
|
|
IGL02989:Kcnh7
|
APN |
2 |
62,552,269 (GRCm39) |
missense |
probably benign |
|
|
IGL02990:Kcnh7
|
APN |
2 |
62,536,330 (GRCm39) |
missense |
probably benign |
0.11 |
|
G1citation:Kcnh7
|
UTSW |
2 |
62,618,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
LCD18:Kcnh7
|
UTSW |
2 |
62,880,143 (GRCm39) |
intron |
probably benign |
|
|
R0129:Kcnh7
|
UTSW |
2 |
62,546,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0622:Kcnh7
|
UTSW |
2 |
62,667,633 (GRCm39) |
splice site |
probably null |
|
|
R0638:Kcnh7
|
UTSW |
2 |
62,607,854 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1006:Kcnh7
|
UTSW |
2 |
62,546,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1200:Kcnh7
|
UTSW |
2 |
62,607,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1330:Kcnh7
|
UTSW |
2 |
62,607,755 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1782:Kcnh7
|
UTSW |
2 |
62,566,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Kcnh7
|
UTSW |
2 |
62,607,736 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1862:Kcnh7
|
UTSW |
2 |
62,618,098 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2197:Kcnh7
|
UTSW |
2 |
62,607,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Kcnh7
|
UTSW |
2 |
62,552,261 (GRCm39) |
missense |
probably benign |
|
|
R2988:Kcnh7
|
UTSW |
2 |
62,552,172 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3024:Kcnh7
|
UTSW |
2 |
62,595,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3433:Kcnh7
|
UTSW |
2 |
62,552,261 (GRCm39) |
missense |
probably benign |
|
|
R4415:Kcnh7
|
UTSW |
2 |
62,536,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4540:Kcnh7
|
UTSW |
2 |
62,569,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4570:Kcnh7
|
UTSW |
2 |
62,667,439 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4827:Kcnh7
|
UTSW |
2 |
62,546,564 (GRCm39) |
missense |
probably benign |
|
|
R4990:Kcnh7
|
UTSW |
2 |
62,564,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5172:Kcnh7
|
UTSW |
2 |
62,569,508 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5822:Kcnh7
|
UTSW |
2 |
62,546,582 (GRCm39) |
missense |
probably benign |
|
|
R5996:Kcnh7
|
UTSW |
2 |
63,014,441 (GRCm39) |
start gained |
probably benign |
|
|
R6142:Kcnh7
|
UTSW |
2 |
62,569,704 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6226:Kcnh7
|
UTSW |
2 |
62,607,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Kcnh7
|
UTSW |
2 |
63,012,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6304:Kcnh7
|
UTSW |
2 |
62,594,960 (GRCm39) |
nonsense |
probably null |
|
|
R6400:Kcnh7
|
UTSW |
2 |
62,569,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6430:Kcnh7
|
UTSW |
2 |
62,680,876 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6483:Kcnh7
|
UTSW |
2 |
62,676,118 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6614:Kcnh7
|
UTSW |
2 |
62,607,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Kcnh7
|
UTSW |
2 |
62,680,721 (GRCm39) |
missense |
probably benign |
|
|
R6822:Kcnh7
|
UTSW |
2 |
62,618,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6863:Kcnh7
|
UTSW |
2 |
62,618,029 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7104:Kcnh7
|
UTSW |
2 |
62,618,031 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7116:Kcnh7
|
UTSW |
2 |
62,707,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7263:Kcnh7
|
UTSW |
2 |
62,566,314 (GRCm39) |
splice site |
probably null |
|
|
R7657:Kcnh7
|
UTSW |
2 |
62,566,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Kcnh7
|
UTSW |
2 |
62,667,538 (GRCm39) |
nonsense |
probably null |
|
|
R7968:Kcnh7
|
UTSW |
2 |
62,566,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Kcnh7
|
UTSW |
2 |
62,533,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8343:Kcnh7
|
UTSW |
2 |
62,680,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8405:Kcnh7
|
UTSW |
2 |
62,533,446 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8411:Kcnh7
|
UTSW |
2 |
62,594,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8493:Kcnh7
|
UTSW |
2 |
62,681,003 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8744:Kcnh7
|
UTSW |
2 |
63,012,433 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8988:Kcnh7
|
UTSW |
2 |
62,552,209 (GRCm39) |
missense |
|
|
|
R9082:Kcnh7
|
UTSW |
2 |
62,607,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9206:Kcnh7
|
UTSW |
2 |
62,607,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9272:Kcnh7
|
UTSW |
2 |
62,618,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9382:Kcnh7
|
UTSW |
2 |
62,667,612 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9674:Kcnh7
|
UTSW |
2 |
62,595,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9771:Kcnh7
|
UTSW |
2 |
62,569,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0011:Kcnh7
|
UTSW |
2 |
62,595,067 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Kcnh7
|
UTSW |
2 |
63,014,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Kcnh7
|
UTSW |
2 |
62,566,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTACAGAGGCTCTCCCTTGAC -3'
(R):5'- TCAAGTGTATCAAGCCCACTTCAAGC -3'
Sequencing Primer
(F):5'- CTCCCTTGACCTGGAGTGTG -3'
(R):5'- tgtgtgtgtgtttgtgtgtg -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation