Incidental Mutation 'R5483:Enkur'
| ID |
434422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enkur
|
| Ensembl Gene |
ENSMUSG00000026679 |
| Gene Name |
enkurin, TRPC channel interacting protein |
| Synonyms |
4933434I06Rik |
| MMRRC Submission |
043044-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R5483 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
21185542-21210176 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21199109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 142
(F142I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027992]
|
| AlphaFold |
Q6SP97 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027992
AA Change: F142I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027992
Gene: ENSMUSG00000026679
AA Change: F142I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Enkurin
|
152 |
248 |
6.3e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158951
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.5%
- 10x: 94.8%
- 20x: 89.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Some mice homozygous for a knock-out allele exhibit situs invertus or ambiguus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap206 |
G |
T |
4: 34,711,404 (GRCm39) |
Q498K |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,949,615 (GRCm39) |
Y524C |
probably damaging |
Het |
| Dnttip2 |
A |
T |
3: 122,070,446 (GRCm39) |
T554S |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,102,687 (GRCm39) |
T949A |
probably damaging |
Het |
| Fbxo24 |
C |
T |
5: 137,617,002 (GRCm39) |
A362T |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,413,795 (GRCm39) |
H124R |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,788,290 (GRCm39) |
I1011N |
possibly damaging |
Het |
| Ipo5 |
T |
A |
14: 121,157,450 (GRCm39) |
I96N |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,663,929 (GRCm39) |
I353V |
probably benign |
Het |
| Klf11 |
T |
A |
12: 24,705,410 (GRCm39) |
L288* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,735,921 (GRCm39) |
|
probably benign |
Het |
| Lmbrd1 |
T |
C |
1: 24,783,989 (GRCm39) |
Y373H |
probably damaging |
Het |
| Mlh1 |
G |
A |
9: 111,060,126 (GRCm39) |
A584V |
possibly damaging |
Het |
| Ociad1 |
T |
C |
5: 73,452,314 (GRCm39) |
F35S |
probably damaging |
Het |
| Or11l3 |
T |
A |
11: 58,516,783 (GRCm39) |
I30F |
possibly damaging |
Het |
| Or6c208 |
T |
C |
10: 129,223,526 (GRCm39) |
I8T |
probably benign |
Het |
| Or8u3-ps |
C |
T |
2: 85,952,962 (GRCm39) |
Q232* |
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,851,141 (GRCm39) |
|
probably null |
Het |
| Pole |
T |
A |
5: 110,442,434 (GRCm39) |
D287E |
probably damaging |
Het |
| Polh |
G |
T |
17: 46,483,671 (GRCm39) |
S531R |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,177 (GRCm39) |
K207R |
probably benign |
Het |
| Rasgrp3 |
T |
G |
17: 75,832,013 (GRCm39) |
S611R |
probably damaging |
Het |
| Rffl |
G |
T |
11: 82,703,549 (GRCm39) |
|
probably null |
Het |
| Scrib |
A |
G |
15: 75,939,508 (GRCm39) |
|
probably null |
Het |
| Serpinb3a |
T |
A |
1: 106,974,899 (GRCm39) |
K211N |
probably benign |
Het |
| Slc22a3 |
C |
T |
17: 12,683,354 (GRCm39) |
A170T |
probably damaging |
Het |
| Socs5 |
T |
G |
17: 87,442,402 (GRCm39) |
F447L |
probably damaging |
Het |
| Srrm2 |
T |
A |
17: 24,040,246 (GRCm39) |
S2393T |
probably damaging |
Het |
| Usp7 |
T |
A |
16: 8,516,404 (GRCm39) |
Y585F |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,153,564 (GRCm39) |
I670N |
probably benign |
Het |
|
| Other mutations in Enkur |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Enkur
|
APN |
2 |
21,194,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01475:Enkur
|
APN |
2 |
21,201,530 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02642:Enkur
|
APN |
2 |
21,199,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0032:Enkur
|
UTSW |
2 |
21,194,115 (GRCm39) |
missense |
probably benign |
|
|
R0032:Enkur
|
UTSW |
2 |
21,194,115 (GRCm39) |
missense |
probably benign |
|
|
R1737:Enkur
|
UTSW |
2 |
21,199,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Enkur
|
UTSW |
2 |
21,193,988 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2221:Enkur
|
UTSW |
2 |
21,194,130 (GRCm39) |
splice site |
probably benign |
|
|
R7577:Enkur
|
UTSW |
2 |
21,209,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8906:Enkur
|
UTSW |
2 |
21,201,568 (GRCm39) |
missense |
probably benign |
|
|
R9134:Enkur
|
UTSW |
2 |
21,185,779 (GRCm39) |
missense |
probably benign |
|
|
R9472:Enkur
|
UTSW |
2 |
21,201,590 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
X0025:Enkur
|
UTSW |
2 |
21,185,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATAGTACTTTAAATGTGAGCCGC -3'
(R):5'- TGTCCCAAACAGTAGTGAGC -3'
Sequencing Primer
(F):5'- GTGAGCCGCACACAGAC -3'
(R):5'- GTTTAATAGGTGCTCTCCCAAGAAGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation