Incidental Mutation 'IGL01760:Napa'
| ID |
153256 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Napa
|
| Ensembl Gene |
ENSMUSG00000006024 |
| Gene Name |
N-ethylmaleimide sensitive fusion protein attachment protein alpha |
| Synonyms |
a-SNAP, SNAPA, RA81, hyh, 1500039N14Rik, SNARE |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01760
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
15832383-15851900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15832669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 23
(N23S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006181]
[ENSMUST00000108509]
[ENSMUST00000127637]
[ENSMUST00000209369]
[ENSMUST00000210805]
|
| AlphaFold |
Q9DB05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006181
AA Change: N23S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006181
Gene: ENSMUSG00000006024
AA Change: N23S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNAP
|
8 |
288 |
4.5e-113 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108509
|
| SMART Domains |
Protein: ENSMUSP00000104149
Gene: ENSMUSG00000078796
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
140 |
162 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
168 |
190 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
196 |
221 |
2.36e-2 |
SMART |
|
low complexity region
|
249 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
670 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
838 |
860 |
3.72e0 |
SMART |
|
low complexity region
|
953 |
958 |
N/A |
INTRINSIC |
|
ELM2
|
1065 |
1122 |
4.46e-14 |
SMART |
|
SANT
|
1171 |
1219 |
8.38e-7 |
SMART |
|
low complexity region
|
1252 |
1263 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1301 |
1323 |
1.01e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124563
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127637
AA Change: N23S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132828
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209369
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210805
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
A |
8: 84,458,586 (GRCm39) |
T147S |
probably benign |
Het |
| Chst3 |
A |
T |
10: 60,022,292 (GRCm39) |
V185D |
probably damaging |
Het |
| Col14a1 |
A |
C |
15: 55,286,855 (GRCm39) |
D892A |
unknown |
Het |
| Dop1a |
A |
G |
9: 86,401,976 (GRCm39) |
T1059A |
probably benign |
Het |
| Eif1ad3 |
A |
T |
12: 87,843,791 (GRCm39) |
|
probably benign |
Het |
| Erlec1 |
A |
C |
11: 30,884,731 (GRCm39) |
S441A |
probably benign |
Het |
| Frmd4b |
G |
T |
6: 97,285,663 (GRCm39) |
T289N |
probably damaging |
Het |
| Gm6133 |
G |
A |
18: 78,393,390 (GRCm39) |
R128Q |
probably benign |
Het |
| Gnai2 |
A |
G |
9: 107,493,717 (GRCm39) |
S155P |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,239,982 (GRCm39) |
S517P |
possibly damaging |
Het |
| Ighv9-1 |
C |
A |
12: 114,057,814 (GRCm39) |
E29* |
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,409,370 (GRCm39) |
K1583R |
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,534,145 (GRCm39) |
T211M |
probably damaging |
Het |
| Mttp |
A |
G |
3: 137,817,497 (GRCm39) |
S418P |
probably benign |
Het |
| Odf2 |
C |
A |
2: 29,804,472 (GRCm39) |
Q347K |
probably damaging |
Het |
| Ogdhl |
A |
G |
14: 32,061,894 (GRCm39) |
D504G |
probably damaging |
Het |
| Or10aa1 |
T |
C |
1: 173,870,191 (GRCm39) |
L225P |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,677,016 (GRCm39) |
N273K |
probably damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,262,015 (GRCm39) |
I11V |
probably benign |
Het |
| Spidr |
G |
T |
16: 15,730,424 (GRCm39) |
R664S |
possibly damaging |
Het |
| Tead3 |
T |
C |
17: 28,552,055 (GRCm39) |
N385S |
probably benign |
Het |
| Trim13 |
T |
A |
14: 61,843,172 (GRCm39) |
N396K |
probably benign |
Het |
| Trp53bp2 |
C |
T |
1: 182,275,993 (GRCm39) |
A160V |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,056,072 (GRCm39) |
S689P |
possibly damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,366 (GRCm39) |
Q255L |
probably benign |
Het |
| Wsb1 |
T |
C |
11: 79,132,867 (GRCm39) |
Y276C |
probably damaging |
Het |
| Zfp236 |
G |
T |
18: 82,639,547 (GRCm39) |
N1233K |
probably damaging |
Het |
|
| Other mutations in Napa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2360:Napa
|
UTSW |
7 |
15,848,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation