Incidental Mutation 'IGL02742:Napg'
ID |
305947 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Napg
|
Ensembl Gene |
ENSMUSG00000024581 |
Gene Name |
N-ethylmaleimide sensitive fusion protein attachment protein gamma |
Synonyms |
2400003O04Rik, SNARE |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.946)
|
Stock # |
IGL02742
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
63110910-63132521 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63119319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 110
(T110S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025474]
[ENSMUST00000150267]
|
AlphaFold |
Q9CWZ7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025474
AA Change: T110S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025474 Gene: ENSMUSG00000024581 AA Change: T110S
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: ENSMUST00000133593
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137849
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150267
AA Change: T110S
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000122681 Gene: ENSMUSG00000024581 AA Change: T110S
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 |
|
Validation Efficiency |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad11 |
A |
G |
9: 103,972,824 (GRCm39) |
T506A |
probably damaging |
Het |
Ankib1 |
A |
C |
5: 3,743,479 (GRCm39) |
D845E |
probably benign |
Het |
Atxn2 |
T |
C |
5: 121,919,399 (GRCm39) |
V369A |
possibly damaging |
Het |
Ccdc50 |
T |
A |
16: 27,225,534 (GRCm39) |
|
probably benign |
Het |
Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
Col16a1 |
G |
A |
4: 129,955,172 (GRCm39) |
|
probably benign |
Het |
Dapk2 |
A |
G |
9: 66,139,096 (GRCm39) |
Y139C |
probably damaging |
Het |
Ecpas |
A |
G |
4: 58,840,757 (GRCm39) |
V667A |
probably damaging |
Het |
Fnip1 |
T |
C |
11: 54,384,177 (GRCm39) |
L334P |
probably damaging |
Het |
Igf1r |
A |
G |
7: 67,839,739 (GRCm39) |
E682G |
possibly damaging |
Het |
Ints8 |
T |
C |
4: 11,241,627 (GRCm39) |
E272G |
possibly damaging |
Het |
Jph2 |
G |
A |
2: 163,217,699 (GRCm39) |
P326S |
probably damaging |
Het |
Krtap1-4 |
T |
C |
11: 99,473,940 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,654,022 (GRCm39) |
I1135T |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,958,439 (GRCm39) |
V320A |
probably benign |
Het |
Myh6 |
A |
C |
14: 55,191,381 (GRCm39) |
I820S |
possibly damaging |
Het |
Nova1 |
G |
A |
12: 46,767,475 (GRCm39) |
Q56* |
probably null |
Het |
Phyhip |
A |
G |
14: 70,699,367 (GRCm39) |
|
probably null |
Het |
Pkd2l2 |
C |
A |
18: 34,549,970 (GRCm39) |
S205* |
probably null |
Het |
Ppp2r1a |
G |
T |
17: 21,179,265 (GRCm39) |
C101F |
probably benign |
Het |
Serpinb3c |
G |
A |
1: 107,200,872 (GRCm39) |
R182* |
probably null |
Het |
St18 |
A |
C |
1: 6,872,540 (GRCm39) |
|
probably benign |
Het |
St6galnac4 |
C |
T |
2: 32,487,096 (GRCm39) |
R264C |
possibly damaging |
Het |
Tmem168 |
T |
C |
6: 13,603,261 (GRCm39) |
Y35C |
probably benign |
Het |
Tmem219 |
A |
G |
7: 126,496,220 (GRCm39) |
L74P |
probably damaging |
Het |
Trpc4 |
T |
A |
3: 54,206,667 (GRCm39) |
N622K |
probably damaging |
Het |
Trpm6 |
A |
C |
19: 18,807,376 (GRCm39) |
|
probably benign |
Het |
Ttl |
C |
A |
2: 128,908,213 (GRCm39) |
F49L |
possibly damaging |
Het |
Tut7 |
C |
T |
13: 59,964,156 (GRCm39) |
D250N |
probably damaging |
Het |
Vmn1r123 |
A |
T |
7: 20,896,968 (GRCm39) |
I287F |
possibly damaging |
Het |
Vmn2r97 |
T |
G |
17: 19,149,432 (GRCm39) |
I273M |
probably damaging |
Het |
Wdr5 |
C |
A |
2: 27,410,437 (GRCm39) |
|
probably benign |
Het |
Zfp37 |
C |
A |
4: 62,110,548 (GRCm39) |
C172F |
possibly damaging |
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 |
|
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 |
R0988:Napg
|
UTSW |
18 |
63,116,431 (GRCm39) |
splice site |
probably benign |
|
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 |
|
Posted On |
2015-04-16 |