Incidental Mutation 'IGL02067:Stxbp6'
ID |
185684 |
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: 0.081)
|
Stock # |
IGL02067
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
44899267-45121248 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44908081 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 179
(R179Q)
|
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: R179Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052639 Gene: ENSMUSG00000046314 AA Change: R179Q
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: R179Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112551 Gene: ENSMUSG00000046314 AA Change: R179Q
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
C |
T |
5: 107,691,816 (GRCm39) |
R36* |
probably null |
Het |
Aplp2 |
T |
A |
9: 31,062,191 (GRCm39) |
K688N |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,213,825 (GRCm39) |
Q13K |
probably damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Chrna6 |
A |
G |
8: 27,894,424 (GRCm39) |
S494P |
probably damaging |
Het |
Clcc1 |
T |
A |
3: 108,576,037 (GRCm39) |
L195H |
probably damaging |
Het |
Coq3 |
A |
G |
4: 21,900,397 (GRCm39) |
E208G |
probably benign |
Het |
Dock4 |
T |
G |
12: 40,884,384 (GRCm39) |
S1684A |
probably damaging |
Het |
Duoxa2 |
G |
A |
2: 122,131,072 (GRCm39) |
V78M |
possibly damaging |
Het |
Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
Fam8a1 |
G |
T |
13: 46,823,324 (GRCm39) |
R88L |
possibly damaging |
Het |
Ganc |
A |
G |
2: 120,236,785 (GRCm39) |
D23G |
probably benign |
Het |
Gm14305 |
A |
T |
2: 176,411,110 (GRCm39) |
E53D |
probably damaging |
Het |
Ing5 |
T |
A |
1: 93,739,648 (GRCm39) |
L58Q |
probably damaging |
Het |
Klrb1-ps1 |
A |
G |
6: 129,106,351 (GRCm39) |
D164G |
probably damaging |
Het |
Lama2 |
G |
A |
10: 27,052,792 (GRCm39) |
T1389M |
probably benign |
Het |
Lrp6 |
A |
T |
6: 134,457,359 (GRCm39) |
I815K |
probably damaging |
Het |
Nek10 |
A |
G |
14: 14,861,639 (GRCm38) |
D565G |
probably benign |
Het |
Opa1 |
A |
G |
16: 29,435,473 (GRCm39) |
E641G |
probably damaging |
Het |
Rbm44 |
T |
C |
1: 91,080,567 (GRCm39) |
S252P |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,173,247 (GRCm39) |
V1810A |
probably damaging |
Het |
Sh3pxd2b |
T |
C |
11: 32,373,095 (GRCm39) |
V754A |
probably benign |
Het |
Slc27a6 |
A |
G |
18: 58,745,263 (GRCm39) |
T566A |
probably benign |
Het |
Supt6 |
T |
A |
11: 78,121,983 (GRCm39) |
Y223F |
probably benign |
Het |
Tdrd6 |
T |
C |
17: 43,939,100 (GRCm39) |
I649M |
probably damaging |
Het |
Tecrl |
A |
T |
5: 83,432,122 (GRCm39) |
C258S |
probably benign |
Het |
Zfp128 |
T |
C |
7: 12,618,977 (GRCm39) |
I74T |
possibly damaging |
Het |
|
Other mutations in Stxbp6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00820:Stxbp6
|
APN |
12 |
44,908,129 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
2014-05-07 |