Incidental Mutation 'R4158:Kcne4'
| ID |
315612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcne4
|
| Ensembl Gene |
ENSMUSG00000047330 |
| Gene Name |
potassium voltage-gated channel, Isk-related subfamily, gene 4 |
| Synonyms |
MiRP3 |
| MMRRC Submission |
041001-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R4158 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
78794628-78797749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78795819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 156
(N156D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057262]
[ENSMUST00000187432]
|
| AlphaFold |
Q9WTW3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057262
AA Change: N156D
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000055415
Gene: ENSMUSG00000047330
AA Change: N156D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ISK_Channel
|
4 |
86 |
2.3e-11 |
PFAM |
|
low complexity region
|
124 |
131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186681
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187432
|
| SMART Domains |
Protein: ENSMUSP00000140235
Gene: ENSMUSG00000047330
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ISK_Channel
|
6 |
64 |
2.5e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189296
|
| Meta Mutation Damage Score |
0.0676 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (38/39) |
| 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, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,103,854 (GRCm39) |
H597R |
probably damaging |
Het |
| Adgrf4 |
G |
T |
17: 42,978,568 (GRCm39) |
H258Q |
probably benign |
Het |
| Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
| Arg1 |
T |
C |
10: 24,798,575 (GRCm39) |
E25G |
probably damaging |
Het |
| Arhgef19 |
T |
C |
4: 140,973,660 (GRCm39) |
I49T |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,990,145 (GRCm39) |
V1869A |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,808,621 (GRCm39) |
R652W |
probably damaging |
Het |
| Cyp19a1 |
G |
A |
9: 54,093,980 (GRCm39) |
T94I |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,067,641 (GRCm39) |
L1173F |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
| Efcab14 |
A |
C |
4: 115,597,594 (GRCm39) |
D63A |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,308,031 (GRCm39) |
T35A |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 97,986,220 (GRCm39) |
|
probably benign |
Het |
| Flcn |
T |
C |
11: 59,691,947 (GRCm39) |
N234S |
probably benign |
Het |
| Gm20939 |
A |
T |
17: 95,184,162 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Ikzf4 |
A |
T |
10: 128,479,605 (GRCm39) |
|
probably benign |
Het |
| Il22b |
T |
C |
10: 118,129,037 (GRCm39) |
T151A |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,609,272 (GRCm39) |
D377V |
possibly damaging |
Het |
| Magi3 |
T |
C |
3: 103,958,277 (GRCm39) |
K603E |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,807,303 (GRCm39) |
I345T |
probably damaging |
Het |
| Nox4 |
A |
T |
7: 87,046,032 (GRCm39) |
H557L |
possibly damaging |
Het |
| Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,252,966 (GRCm39) |
I1375K |
probably damaging |
Het |
| Ppp6r3 |
T |
A |
19: 3,562,037 (GRCm39) |
H208L |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
| Ptprz1 |
T |
C |
6: 23,022,204 (GRCm39) |
I844T |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,513,625 (GRCm39) |
N470S |
probably benign |
Het |
| Slc26a7 |
T |
C |
4: 14,544,197 (GRCm39) |
T369A |
probably benign |
Het |
| Tex14 |
T |
G |
11: 87,407,595 (GRCm39) |
S900R |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
| Vat1l |
T |
A |
8: 115,098,469 (GRCm39) |
M413K |
probably benign |
Het |
| Zfp981 |
C |
A |
4: 146,622,080 (GRCm39) |
P335Q |
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,622,339 (GRCm39) |
H421Q |
probably benign |
Het |
|
| Other mutations in Kcne4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01618:Kcne4
|
APN |
1 |
78,795,525 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03047:Kcne4
|
UTSW |
1 |
78,795,495 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2091:Kcne4
|
UTSW |
1 |
78,795,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2426:Kcne4
|
UTSW |
1 |
78,795,688 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3405:Kcne4
|
UTSW |
1 |
78,795,688 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3406:Kcne4
|
UTSW |
1 |
78,795,688 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4159:Kcne4
|
UTSW |
1 |
78,795,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4414:Kcne4
|
UTSW |
1 |
78,795,651 (GRCm39) |
missense |
probably benign |
|
|
R6959:Kcne4
|
UTSW |
1 |
78,795,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8461:Kcne4
|
UTSW |
1 |
78,795,433 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9020:Kcne4
|
UTSW |
1 |
78,795,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9311:Kcne4
|
UTSW |
1 |
78,795,824 (GRCm39) |
missense |
probably benign |
|
|
R9375:Kcne4
|
UTSW |
1 |
78,795,623 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGATGCTGAATATGCTGCAG -3'
(R):5'- ATGAGTCCCACAGGAACCTC -3'
Sequencing Primer
(F):5'- CTGAATATGCTGCAGGAGAGTGTG -3'
(R):5'- GAACCTCAAGGACTGCAGCTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation