Incidental Mutation 'IGL00820:Stxbp6'
| ID |
14294 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stxbp6
|
| Ensembl Gene |
ENSMUSG00000046314 |
| Gene Name |
syntaxin binding protein 6 (amisyn) |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL00820
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
44899267-45121248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44908129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 163
(T163I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053768]
[ENSMUST00000120531]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053768
AA Change: T163I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052639
Gene: ENSMUSG00000046314
AA Change: T163I
| Domain | Start | End | E-Value | Type |
|---|
|
Sec3-PIP2_bind
|
41 |
133 |
1.79e-36 |
SMART |
|
Pfam:Synaptobrevin
|
153 |
210 |
2e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120531
AA Change: T163I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112551
Gene: ENSMUSG00000046314
AA Change: T163I
| Domain | Start | End | E-Value | Type |
|---|
|
Sec3-PIP2_bind
|
41 |
133 |
1.79e-36 |
SMART |
|
Pfam:Synaptobrevin
|
153 |
210 |
2.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130202
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,083,878 (GRCm39) |
I631F |
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,467,664 (GRCm39) |
D314G |
probably benign |
Het |
| Ccl1 |
T |
C |
11: 82,068,914 (GRCm39) |
E41G |
possibly damaging |
Het |
| Ephx1 |
T |
C |
1: 180,827,386 (GRCm39) |
Y89C |
possibly damaging |
Het |
| Fbxw18 |
G |
A |
9: 109,522,437 (GRCm39) |
T144I |
probably damaging |
Het |
| Galt |
C |
T |
4: 41,758,570 (GRCm39) |
A357V |
probably benign |
Het |
| Gfra1 |
T |
C |
19: 58,252,337 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,337,294 (GRCm39) |
I2458L |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,237,703 (GRCm39) |
V339A |
possibly damaging |
Het |
| Klk1b8 |
T |
C |
7: 43,604,210 (GRCm39) |
I226T |
probably benign |
Het |
| Mfsd6 |
C |
T |
1: 52,747,465 (GRCm39) |
V467M |
probably damaging |
Het |
| Mrpl16 |
T |
C |
19: 11,751,777 (GRCm39) |
V179A |
probably benign |
Het |
| Or52e19b |
G |
A |
7: 103,032,672 (GRCm39) |
T179I |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,582,358 (GRCm39) |
T693A |
possibly damaging |
Het |
| Ptpn2 |
A |
C |
18: 67,808,862 (GRCm39) |
I318R |
possibly damaging |
Het |
| Slc34a1 |
A |
G |
13: 24,003,317 (GRCm39) |
H285R |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spmip6 |
A |
T |
4: 41,507,178 (GRCm39) |
L206Q |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,679,251 (GRCm39) |
L68P |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,069,034 (GRCm39) |
|
probably benign |
Het |
| Tti1 |
T |
C |
2: 157,850,888 (GRCm39) |
E117G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,437,378 (GRCm39) |
|
probably benign |
Het |
| Wipi1 |
A |
C |
11: 109,473,945 (GRCm39) |
|
probably benign |
Het |
| Zan |
A |
T |
5: 137,384,626 (GRCm39) |
C5133S |
unknown |
Het |
|
| Other mutations in Stxbp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02067:Stxbp6
|
APN |
12 |
44,908,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02120:Stxbp6
|
APN |
12 |
44,948,831 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02186:Stxbp6
|
APN |
12 |
44,948,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Stxbp6
|
UTSW |
12 |
44,949,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1772:Stxbp6
|
UTSW |
12 |
44,949,653 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1990:Stxbp6
|
UTSW |
12 |
44,902,640 (GRCm39) |
nonsense |
probably null |
|
|
R3939:Stxbp6
|
UTSW |
12 |
44,949,641 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3942:Stxbp6
|
UTSW |
12 |
44,949,641 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6614:Stxbp6
|
UTSW |
12 |
44,908,058 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6787:Stxbp6
|
UTSW |
12 |
44,949,779 (GRCm39) |
splice site |
probably null |
|
|
R7162:Stxbp6
|
UTSW |
12 |
44,949,663 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7264:Stxbp6
|
UTSW |
12 |
44,948,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7275:Stxbp6
|
UTSW |
12 |
44,948,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7694:Stxbp6
|
UTSW |
12 |
44,948,810 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8474:Stxbp6
|
UTSW |
12 |
44,949,704 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9328:Stxbp6
|
UTSW |
12 |
44,902,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9507:Stxbp6
|
UTSW |
12 |
45,066,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9668:Stxbp6
|
UTSW |
12 |
44,949,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation