Incidental Mutation 'R0988:Napg'
| ID |
97439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Napg
|
| Ensembl Gene |
ENSMUSG00000024581 |
| Gene Name |
N-ethylmaleimide sensitive fusion protein attachment protein gamma |
| Synonyms |
2400003O04Rik, SNARE |
| MMRRC Submission |
039108-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R0988 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
63110910-63132521 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 63116431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025474]
[ENSMUST00000150267]
|
| AlphaFold |
Q9CWZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025474
|
| SMART Domains |
Protein: ENSMUSP00000025474
Gene: ENSMUSG00000024581
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNAP
|
7 |
261 |
1e-30 |
PFAM |
|
low complexity region
|
294 |
310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124837
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137849
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150267
|
| SMART Domains |
Protein: ENSMUSP00000122681
Gene: ENSMUSG00000024581
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNAP
|
7 |
195 |
6.7e-23 |
PFAM |
|
low complexity region
|
204 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155440
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
97% (34/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,896,310 (GRCm39) |
I340V |
probably benign |
Het |
| Ano1 |
T |
G |
7: 144,187,390 (GRCm39) |
S459R |
possibly damaging |
Het |
| Cop1 |
T |
C |
1: 159,060,417 (GRCm39) |
V67A |
possibly damaging |
Het |
| Cop1 |
A |
G |
1: 159,072,242 (GRCm39) |
Y186C |
probably damaging |
Het |
| Cst11 |
G |
A |
2: 148,612,346 (GRCm39) |
T97I |
probably benign |
Het |
| Ephb2 |
T |
A |
4: 136,387,019 (GRCm39) |
Y736F |
possibly damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,225,463 (GRCm39) |
I124T |
probably damaging |
Het |
| Hpn |
T |
C |
7: 30,799,323 (GRCm39) |
Y271C |
possibly damaging |
Het |
| Kmt2a |
A |
G |
9: 44,759,846 (GRCm39) |
S668P |
probably benign |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,362 (GRCm39) |
C94* |
probably null |
Het |
| Lgmn |
T |
C |
12: 102,364,536 (GRCm39) |
D311G |
probably damaging |
Het |
| Macroh2a1 |
T |
C |
13: 56,231,109 (GRCm39) |
|
probably null |
Het |
| Mfsd14b |
T |
C |
13: 65,260,307 (GRCm39) |
|
probably benign |
Het |
| Micu1 |
C |
A |
10: 59,592,549 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,425,532 (GRCm39) |
I4726V |
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,103,080 (GRCm39) |
N310K |
probably damaging |
Het |
| Nav3 |
G |
A |
10: 109,552,389 (GRCm39) |
R1818W |
probably damaging |
Het |
| Ntpcr |
T |
C |
8: 126,464,170 (GRCm39) |
|
probably benign |
Het |
| Or1j13 |
T |
C |
2: 36,369,779 (GRCm39) |
D121G |
probably damaging |
Het |
| Or51af1 |
T |
A |
7: 103,141,954 (GRCm39) |
I44F |
probably damaging |
Het |
| Or5b99 |
A |
G |
19: 12,977,151 (GRCm39) |
D267G |
probably benign |
Het |
| Or6c214 |
A |
G |
10: 129,590,866 (GRCm39) |
V151A |
probably benign |
Het |
| Pdia2 |
A |
G |
17: 26,417,803 (GRCm39) |
F69L |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,564,404 (GRCm39) |
T1333A |
probably damaging |
Het |
| Platr26 |
A |
T |
2: 71,553,631 (GRCm39) |
|
noncoding transcript |
Het |
| Proc |
T |
C |
18: 32,266,536 (GRCm39) |
D97G |
probably benign |
Het |
| Ptpn23 |
C |
T |
9: 110,217,845 (GRCm39) |
R700H |
probably benign |
Het |
| Rragc |
T |
A |
4: 123,818,575 (GRCm39) |
|
probably null |
Het |
| Serac1 |
A |
T |
17: 6,111,855 (GRCm39) |
F244I |
probably benign |
Het |
| Snrpd3 |
A |
G |
10: 75,368,039 (GRCm39) |
D52G |
probably damaging |
Het |
| Thrb |
G |
T |
14: 17,981,837 (GRCm38) |
|
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,735,435 (GRCm39) |
|
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,402,401 (GRCm39) |
C286S |
probably benign |
Het |
|
| Other mutations in Napg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01820:Napg
|
APN |
18 |
63,119,516 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02728:Napg
|
APN |
18 |
63,127,375 (GRCm39) |
splice site |
probably benign |
|
|
IGL02742:Napg
|
APN |
18 |
63,119,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0276:Napg
|
UTSW |
18 |
63,120,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0277:Napg
|
UTSW |
18 |
63,120,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0323:Napg
|
UTSW |
18 |
63,120,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Napg
|
UTSW |
18 |
63,120,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0751:Napg
|
UTSW |
18 |
63,127,409 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1184:Napg
|
UTSW |
18 |
63,127,409 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1387:Napg
|
UTSW |
18 |
63,119,283 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1678:Napg
|
UTSW |
18 |
63,117,143 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1779:Napg
|
UTSW |
18 |
63,115,762 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4723:Napg
|
UTSW |
18 |
63,125,563 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5848:Napg
|
UTSW |
18 |
63,127,440 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5874:Napg
|
UTSW |
18 |
63,111,091 (GRCm39) |
nonsense |
probably null |
|
|
R5973:Napg
|
UTSW |
18 |
63,128,054 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCAGTTTAAAGTGCTGCACAGG -3'
(R):5'- AAGTGACTTCCAAGCCACCGATG -3'
Sequencing Primer
(F):5'- CTGCACAGGGTGGTTCAG -3'
(R):5'- AGCCACCGATGTTTTTACAAGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation