Incidental Mutation 'IGL01115:Napb'
| ID |
50553 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Napb
|
| Ensembl Gene |
ENSMUSG00000027438 |
| Gene Name |
N-ethylmaleimide sensitive fusion protein attachment protein beta |
| Synonyms |
I47, E161, Brp14, SNARE, b-SNAP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
IGL01115
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
148535905-148574387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148549089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 111
(Y111C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028926]
[ENSMUST00000136513]
|
| AlphaFold |
P28663 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028926
AA Change: Y111C
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028926
Gene: ENSMUSG00000027438
AA Change: Y111C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNAP
|
8 |
288 |
7.3e-113 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136513
|
| SMART Domains |
Protein: ENSMUSP00000120979
Gene: ENSMUSG00000027438
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNAP
|
8 |
114 |
3.5e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140647
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit seizures, ataxia, abnormal synaptic vesicle priming, and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,621,352 (GRCm39) |
T934A |
probably benign |
Het |
| Ankzf1 |
T |
C |
1: 75,169,259 (GRCm39) |
L55P |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,883,131 (GRCm39) |
S336P |
probably damaging |
Het |
| Bmper |
T |
C |
9: 23,310,985 (GRCm39) |
|
probably benign |
Het |
| Capza2 |
A |
G |
6: 17,654,122 (GRCm39) |
N58S |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,952,146 (GRCm39) |
V75A |
probably damaging |
Het |
| Chmp7 |
A |
G |
14: 69,958,772 (GRCm39) |
S181P |
probably damaging |
Het |
| Colq |
A |
G |
14: 31,267,085 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,911,246 (GRCm39) |
|
probably benign |
Het |
| Has3 |
A |
G |
8: 107,605,320 (GRCm39) |
T509A |
probably benign |
Het |
| Hsh2d |
T |
C |
8: 72,954,463 (GRCm39) |
S282P |
probably damaging |
Het |
| Impg2 |
C |
T |
16: 56,079,803 (GRCm39) |
P536S |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,580,228 (GRCm39) |
|
probably null |
Het |
| Or8w1 |
T |
C |
2: 87,465,728 (GRCm39) |
D121G |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,876,682 (GRCm39) |
|
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,347,210 (GRCm39) |
T1002A |
probably damaging |
Het |
| Plcg2 |
T |
C |
8: 118,284,068 (GRCm39) |
W122R |
probably damaging |
Het |
| Prpf19 |
C |
T |
19: 10,877,567 (GRCm39) |
T204M |
probably damaging |
Het |
| Ptbp1 |
T |
A |
10: 79,695,796 (GRCm39) |
|
probably benign |
Het |
| Ptpre |
T |
A |
7: 135,272,493 (GRCm39) |
D402E |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,916,422 (GRCm39) |
N1176S |
probably benign |
Het |
| Son |
A |
G |
16: 91,456,346 (GRCm39) |
T1698A |
probably benign |
Het |
| Spata6l |
T |
C |
19: 28,921,842 (GRCm39) |
|
probably null |
Het |
| Speer2 |
C |
T |
16: 69,658,539 (GRCm39) |
W42* |
probably null |
Het |
| Taf5 |
T |
C |
19: 47,063,521 (GRCm39) |
V357A |
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,402,270 (GRCm39) |
S55P |
probably benign |
Het |
| Tmem115 |
T |
A |
9: 107,411,781 (GRCm39) |
L35Q |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,096,480 (GRCm39) |
|
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,481,152 (GRCm39) |
D678G |
probably damaging |
Het |
| Ugt1a7c |
A |
T |
1: 88,022,967 (GRCm39) |
Q42L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,258,492 (GRCm39) |
V4099E |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,176,786 (GRCm39) |
L11F |
probably damaging |
Het |
| Zfp955a |
T |
A |
17: 33,461,554 (GRCm39) |
K193* |
probably null |
Het |
| Zranb2 |
T |
C |
3: 157,252,328 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Napb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02987:Napb
|
APN |
2 |
148,539,431 (GRCm39) |
splice site |
probably null |
|
|
R0068:Napb
|
UTSW |
2 |
148,540,843 (GRCm39) |
splice site |
probably benign |
|
|
R0068:Napb
|
UTSW |
2 |
148,540,843 (GRCm39) |
splice site |
probably benign |
|
|
R1218:Napb
|
UTSW |
2 |
148,542,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Napb
|
UTSW |
2 |
148,548,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3508:Napb
|
UTSW |
2 |
148,540,880 (GRCm39) |
missense |
probably benign |
|
|
R3689:Napb
|
UTSW |
2 |
148,544,977 (GRCm39) |
splice site |
probably null |
|
|
R3691:Napb
|
UTSW |
2 |
148,544,977 (GRCm39) |
splice site |
probably null |
|
|
R4377:Napb
|
UTSW |
2 |
148,574,184 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4541:Napb
|
UTSW |
2 |
148,551,229 (GRCm39) |
splice site |
probably benign |
|
|
R4728:Napb
|
UTSW |
2 |
148,551,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5028:Napb
|
UTSW |
2 |
148,545,057 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5982:Napb
|
UTSW |
2 |
148,542,411 (GRCm39) |
splice site |
probably null |
|
|
R6228:Napb
|
UTSW |
2 |
148,540,098 (GRCm39) |
splice site |
probably null |
|
|
R6944:Napb
|
UTSW |
2 |
148,548,889 (GRCm39) |
missense |
probably benign |
|
|
R6998:Napb
|
UTSW |
2 |
148,542,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8113:Napb
|
UTSW |
2 |
148,551,351 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8705:Napb
|
UTSW |
2 |
148,542,396 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Posted On |
2013-06-21 |
Incidental Mutation