Incidental Mutation 'IGL02987:Napb'
| ID |
406781 |
| 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 # |
IGL02987
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
148535905-148574387 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 148539431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028926]
[ENSMUST00000028926]
[ENSMUST00000028926]
[ENSMUST00000028928]
[ENSMUST00000136513]
|
| AlphaFold |
P28663 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028926
|
| SMART Domains |
Protein: ENSMUSP00000028926
Gene: ENSMUSG00000027438
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNAP
|
8 |
288 |
7.3e-113 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000028926
|
| SMART Domains |
Protein: ENSMUSP00000028926
Gene: ENSMUSG00000027438
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNAP
|
8 |
288 |
7.3e-113 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000028926
|
| SMART Domains |
Protein: ENSMUSP00000028926
Gene: ENSMUSG00000027438
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNAP
|
8 |
288 |
7.3e-113 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028928
|
| SMART Domains |
Protein: ENSMUSP00000028928
Gene: ENSMUSG00000027439
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
133 |
2.01e-20 |
SMART |
|
low complexity region
|
199 |
213 |
N/A |
INTRINSIC |
|
coiled coil region
|
287 |
308 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
315 |
337 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
346 |
369 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
375 |
398 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
405 |
427 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
433 |
455 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
461 |
483 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
489 |
511 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
517 |
539 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
545 |
567 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
573 |
595 |
1.04e-3 |
SMART |
|
| 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 |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1e1 |
T |
C |
13: 4,643,591 (GRCm39) |
D222G |
probably damaging |
Het |
| Apbb1ip |
T |
A |
2: 22,757,649 (GRCm39) |
Y422* |
probably null |
Het |
| Asf1a |
T |
C |
10: 53,473,367 (GRCm39) |
F28L |
probably damaging |
Het |
| Atp6v1c1 |
T |
A |
15: 38,690,806 (GRCm39) |
M319K |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 108,003,503 (GRCm39) |
S301P |
probably benign |
Het |
| Cds1 |
A |
G |
5: 101,960,391 (GRCm39) |
I281V |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,476,646 (GRCm39) |
|
probably benign |
Het |
| Coq2 |
G |
A |
5: 100,811,554 (GRCm39) |
Q103* |
probably null |
Het |
| Dgkh |
A |
G |
14: 78,827,312 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,746,098 (GRCm39) |
I4005T |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,732,099 (GRCm39) |
R4269L |
probably benign |
Het |
| F2rl1 |
T |
A |
13: 95,650,741 (GRCm39) |
Q47L |
probably benign |
Het |
| Fhod3 |
T |
C |
18: 25,246,610 (GRCm39) |
V1272A |
possibly damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,610,758 (GRCm39) |
|
probably benign |
Het |
| Gfral |
A |
G |
9: 76,104,583 (GRCm39) |
V143A |
possibly damaging |
Het |
| Gltp |
A |
C |
5: 114,812,243 (GRCm39) |
F88V |
probably benign |
Het |
| Hectd1 |
T |
G |
12: 51,791,550 (GRCm39) |
K2565T |
probably damaging |
Het |
| Jade2 |
A |
G |
11: 51,721,308 (GRCm39) |
S207P |
probably damaging |
Het |
| Khdc3 |
A |
G |
9: 73,009,948 (GRCm39) |
I53V |
possibly damaging |
Het |
| Lce1a1 |
T |
C |
3: 92,554,409 (GRCm39) |
T22A |
unknown |
Het |
| Lgals9 |
A |
T |
11: 78,858,303 (GRCm39) |
H196Q |
possibly damaging |
Het |
| Lrrc37a |
A |
T |
11: 103,391,239 (GRCm39) |
N1395K |
probably benign |
Het |
| Mast1 |
C |
T |
8: 85,652,348 (GRCm39) |
V268I |
possibly damaging |
Het |
| Myh11 |
T |
G |
16: 14,050,396 (GRCm39) |
E523A |
probably damaging |
Het |
| Nlrp4e |
G |
A |
7: 23,000,858 (GRCm39) |
R51H |
probably damaging |
Het |
| Ola1 |
T |
C |
2: 72,987,242 (GRCm39) |
D130G |
probably benign |
Het |
| Or8c13 |
A |
T |
9: 38,091,919 (GRCm39) |
S67T |
possibly damaging |
Het |
| Pard3 |
G |
A |
8: 128,115,972 (GRCm39) |
C687Y |
probably damaging |
Het |
| Rassf9 |
A |
G |
10: 102,381,109 (GRCm39) |
T164A |
possibly damaging |
Het |
| Sema3a |
A |
G |
5: 13,615,863 (GRCm39) |
Y429C |
probably damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,023,653 (GRCm39) |
V416A |
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,940,423 (GRCm39) |
T631A |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,952,349 (GRCm39) |
C736S |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,345,074 (GRCm39) |
S1788T |
probably damaging |
Het |
| Trim42 |
A |
G |
9: 97,247,868 (GRCm39) |
V276A |
probably benign |
Het |
|
| Other mutations in Napb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01115:Napb
|
APN |
2 |
148,549,089 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2016-08-02 |
Incidental Mutation