Incidental Mutation 'R1281:Necap1'
| ID |
151023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Necap1
|
| Ensembl Gene |
ENSMUSG00000030327 |
| Gene Name |
NECAP endocytosis associated 1 |
| Synonyms |
1200016B17Rik |
| MMRRC Submission |
039347-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R1281 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
122851516-122865902 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 122851573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 16
(D16Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032477]
|
| AlphaFold |
Q9CR95 |
| PDB Structure |
Solution structure of NECAP1 protein [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032477
AA Change: D16Y
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032477
Gene: ENSMUSG00000030327
AA Change: D16Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1681
|
7 |
164 |
1.5e-59 |
PFAM |
|
low complexity region
|
182 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203476
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203715
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| 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 containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
A |
T |
1: 173,287,377 (GRCm39) |
K126* |
probably null |
Het |
| C9 |
A |
T |
15: 6,519,321 (GRCm39) |
N386I |
possibly damaging |
Het |
| Csnk1e |
A |
C |
15: 79,304,841 (GRCm39) |
N387K |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,822,460 (GRCm39) |
T1758A |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,908,500 (GRCm39) |
I256V |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,157,569 (GRCm39) |
C565Y |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,902,759 (GRCm39) |
H379R |
possibly damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Krt1c |
C |
A |
15: 101,721,727 (GRCm39) |
C438F |
probably damaging |
Het |
| Mast4 |
G |
A |
13: 102,887,086 (GRCm39) |
T1001I |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,298,321 (GRCm39) |
F726L |
probably damaging |
Het |
| Mroh2a |
T |
TN |
1: 88,183,889 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
C |
3: 137,812,980 (GRCm39) |
N550S |
possibly damaging |
Het |
| Nox3 |
A |
T |
17: 3,746,460 (GRCm39) |
I26N |
probably damaging |
Het |
| Patj |
T |
C |
4: 98,304,932 (GRCm39) |
I262T |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,005,166 (GRCm39) |
E953G |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,189 (GRCm39) |
C395S |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,429,250 (GRCm39) |
I433M |
probably benign |
Het |
| Sclt1 |
A |
G |
3: 41,602,055 (GRCm39) |
F552L |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,213,247 (GRCm39) |
N479S |
probably benign |
Het |
| Tg |
G |
A |
15: 66,568,338 (GRCm39) |
V1342I |
probably benign |
Het |
| Ube2n |
C |
A |
10: 95,377,618 (GRCm39) |
N132K |
probably benign |
Het |
| Vmn2r55 |
A |
T |
7: 12,404,825 (GRCm39) |
C193S |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,330,872 (GRCm39) |
C96R |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,437,852 (GRCm39) |
V53E |
probably damaging |
Het |
|
| Other mutations in Necap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03331:Necap1
|
APN |
6 |
122,857,376 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0364:Necap1
|
UTSW |
6 |
122,857,728 (GRCm39) |
splice site |
probably benign |
|
|
R0788:Necap1
|
UTSW |
6 |
122,858,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1842:Necap1
|
UTSW |
6 |
122,851,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4367:Necap1
|
UTSW |
6 |
122,864,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4455:Necap1
|
UTSW |
6 |
122,864,328 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5347:Necap1
|
UTSW |
6 |
122,857,706 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5570:Necap1
|
UTSW |
6 |
122,858,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5881:Necap1
|
UTSW |
6 |
122,858,503 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6247:Necap1
|
UTSW |
6 |
122,857,611 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACAGGTTTTGCGCCGCCTAGAG -3'
(R):5'- GGATTACAAGCCAAAGGTCGCAGC -3'
Sequencing Primer
(F):5'- GAGGTTAACCTCGAAGCTGTAC -3'
(R):5'- GCAGACGATGTCTCAGGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation