Incidental Mutation 'R3942:Stxbp6'
ID |
312908 |
Institutional Source |
Beutler Lab
|
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 # |
R3942 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
44899267-45121248 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 44949641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112551
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053768]
[ENSMUST00000120531]
[ENSMUST00000143376]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000053768
|
SMART Domains |
Protein: ENSMUSP00000052639 Gene: ENSMUSG00000046314
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 null
Transcript: ENSMUST00000120531
|
SMART Domains |
Protein: ENSMUSP00000112551 Gene: ENSMUSG00000046314
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143376
|
SMART Domains |
Protein: ENSMUSP00000117366 Gene: ENSMUSG00000046314
Domain | Start | End | E-Value | Type |
Pfam:Sec3-PIP2_bind
|
41 |
89 |
3.8e-14 |
PFAM |
|
Meta Mutation Damage Score |
0.9495 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
C |
13: 81,330,908 (GRCm39) |
N6049S |
probably damaging |
Het |
Aph1a |
C |
T |
3: 95,801,573 (GRCm39) |
R31W |
probably damaging |
Het |
Atp10b |
T |
C |
11: 43,063,581 (GRCm39) |
V172A |
probably damaging |
Het |
Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
Best3 |
T |
A |
10: 116,824,579 (GRCm39) |
F15Y |
possibly damaging |
Het |
Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
Crb1 |
A |
C |
1: 139,265,211 (GRCm39) |
L69R |
possibly damaging |
Het |
Crcp |
T |
C |
5: 130,063,791 (GRCm39) |
|
probably null |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Hps3 |
T |
C |
3: 20,051,103 (GRCm39) |
Y859C |
probably damaging |
Het |
Irx5 |
C |
A |
8: 93,086,314 (GRCm39) |
N132K |
probably damaging |
Het |
Itgb2 |
A |
G |
10: 77,393,867 (GRCm39) |
T436A |
probably benign |
Het |
Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
Krt12 |
A |
G |
11: 99,312,922 (GRCm39) |
S41P |
unknown |
Het |
Lypd6b |
G |
T |
2: 49,833,552 (GRCm39) |
S64I |
probably damaging |
Het |
Mpc1 |
T |
A |
17: 8,507,420 (GRCm39) |
|
probably null |
Het |
Or4c109 |
T |
A |
2: 88,818,455 (GRCm39) |
L30F |
probably benign |
Het |
Or5b95 |
A |
T |
19: 12,657,768 (GRCm39) |
M99L |
probably benign |
Het |
Pard3b |
T |
A |
1: 62,198,611 (GRCm39) |
I233N |
probably damaging |
Het |
Pcdh1 |
A |
G |
18: 38,332,511 (GRCm39) |
V164A |
probably benign |
Het |
Pclo |
A |
G |
5: 14,729,932 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,455,422 (GRCm39) |
|
probably null |
Het |
Slco1a7 |
A |
G |
6: 141,673,440 (GRCm39) |
I366T |
probably damaging |
Het |
Spata31d1d |
T |
C |
13: 59,875,276 (GRCm39) |
Q753R |
probably benign |
Het |
Trav6-5 |
T |
C |
14: 53,728,838 (GRCm39) |
S32P |
probably benign |
Het |
Zp3r |
A |
C |
1: 130,504,791 (GRCm39) |
D470E |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGACAGCATCTTTCCATATG -3'
(R):5'- CAATGTACCTCCCCATTAATCTGAG -3'
Sequencing Primer
(F):5'- TCTCTTGGATTTCTCTATCAAACATG -3'
(R):5'- TCCACATCATTCGTCCGA -3'
|
Posted On |
2015-04-30 |