Incidental Mutation 'R2360:Napa'
| ID |
247107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Napa
|
| Ensembl Gene |
ENSMUSG00000006024 |
| Gene Name |
N-ethylmaleimide sensitive fusion protein attachment protein alpha |
| Synonyms |
a-SNAP, SNAPA, RA81, hyh, 1500039N14Rik, SNARE |
| MMRRC Submission |
040342-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2360 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15832383-15851900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15848083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 200
(Y200C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006181]
[ENSMUST00000127637]
|
| AlphaFold |
Q9DB05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006181
AA Change: Y200C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006181
Gene: ENSMUSG00000006024
AA Change: Y200C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNAP
|
8 |
288 |
4.5e-113 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124563
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150208
|
| Meta Mutation Damage Score |
0.9630 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
93% (37/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2011]
PHENOTYPE: The homozygous null mutation is embryonic lethal while partial loss of function homozygous mutants develop hydrocephalus and die postnatally. These mutants also display central nervous system abnormalities and impaired motor capabilities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,274,214 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,850,431 (GRCm39) |
E761G |
probably benign |
Het |
| Apc |
C |
T |
18: 34,394,179 (GRCm39) |
T35I |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,541,723 (GRCm39) |
I228N |
probably damaging |
Het |
| Atp6v1g2 |
A |
G |
17: 35,456,638 (GRCm39) |
E74G |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,447 (GRCm39) |
E79G |
probably damaging |
Het |
| Cdc42ep4 |
A |
G |
11: 113,619,528 (GRCm39) |
S288P |
probably damaging |
Het |
| Cip2a |
C |
T |
16: 48,837,828 (GRCm39) |
Q843* |
probably null |
Het |
| Cpn2 |
T |
C |
16: 30,078,321 (GRCm39) |
D460G |
probably benign |
Het |
| Crtam |
A |
G |
9: 40,884,811 (GRCm39) |
*393Q |
probably null |
Het |
| Cwc22 |
A |
G |
2: 77,757,591 (GRCm39) |
I179T |
probably damaging |
Het |
| Cyp3a41b |
T |
C |
5: 145,507,221 (GRCm39) |
M240V |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,896,178 (GRCm39) |
D864V |
probably benign |
Het |
| Map3k7 |
T |
C |
4: 31,964,302 (GRCm39) |
S14P |
unknown |
Het |
| Med25 |
A |
G |
7: 44,534,566 (GRCm39) |
S150P |
probably damaging |
Het |
| Mex3b |
T |
C |
7: 82,517,070 (GRCm39) |
V71A |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,638,275 (GRCm39) |
L19S |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,176,770 (GRCm39) |
S98T |
probably damaging |
Het |
| Mthfd1l |
G |
T |
10: 4,006,771 (GRCm39) |
A678S |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,876,565 (GRCm39) |
I33V |
probably benign |
Het |
| Or14j6 |
A |
G |
17: 38,215,345 (GRCm39) |
K303E |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,466,769 (GRCm39) |
R66Q |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,236,145 (GRCm39) |
I1488M |
probably benign |
Het |
| Rfk |
A |
G |
19: 17,375,960 (GRCm39) |
T85A |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,893,855 (GRCm39) |
D1179G |
possibly damaging |
Het |
| Serpina3k |
C |
T |
12: 104,307,166 (GRCm39) |
Q133* |
probably null |
Het |
| Setd4 |
T |
C |
16: 93,383,122 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
C |
T |
14: 40,582,548 (GRCm39) |
|
probably null |
Het |
| Slc1a6 |
G |
A |
10: 78,648,718 (GRCm39) |
V480I |
possibly damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,867,104 (GRCm39) |
V214E |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,504,435 (GRCm39) |
Y654H |
probably damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,427,374 (GRCm39) |
C115S |
unknown |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,836 (GRCm39) |
I285F |
probably damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,315,631 (GRCm39) |
T145K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,394,388 (GRCm39) |
T4484A |
unknown |
Het |
| Zfp768 |
T |
C |
7: 126,943,810 (GRCm39) |
E106G |
probably benign |
Het |
| Zfp984 |
A |
G |
4: 147,839,234 (GRCm39) |
I539T |
possibly damaging |
Het |
|
| Other mutations in Napa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01760:Napa
|
APN |
7 |
15,832,669 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02383:Napa
|
APN |
7 |
15,846,503 (GRCm39) |
splice site |
probably benign |
|
|
IGL02968:Napa
|
APN |
7 |
15,847,266 (GRCm39) |
splice site |
probably benign |
|
|
R0782:Napa
|
UTSW |
7 |
15,849,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2067:Napa
|
UTSW |
7 |
15,849,203 (GRCm39) |
unclassified |
probably benign |
|
|
R2115:Napa
|
UTSW |
7 |
15,848,134 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4762:Napa
|
UTSW |
7 |
15,849,196 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5386:Napa
|
UTSW |
7 |
15,850,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5503:Napa
|
UTSW |
7 |
15,849,549 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6335:Napa
|
UTSW |
7 |
15,849,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6939:Napa
|
UTSW |
7 |
15,849,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6961:Napa
|
UTSW |
7 |
15,843,034 (GRCm39) |
nonsense |
probably null |
|
|
R7841:Napa
|
UTSW |
7 |
15,849,559 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8809:Napa
|
UTSW |
7 |
15,846,551 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
X0025:Napa
|
UTSW |
7 |
15,849,137 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCCTAGTCATGTCTCTGG -3'
(R):5'- CTGGGAACTCAGAAAAGCATCC -3'
Sequencing Primer
(F):5'- TGGTCACTCTGGCAACAC -3'
(R):5'- GACTGTTTTCCATCCTAACCAAAGGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation