Incidental Mutation 'R3939:Stxbp6'
ID |
308612 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stxbp6
|
Ensembl Gene |
ENSMUSG00000046314 |
Gene Name |
syntaxin binding protein 6 (amisyn) |
Synonyms |
|
MMRRC Submission |
040826-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R3939 (G1)
|
Quality Score |
225 |
Status
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (37/38) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
Cacnb4 |
C |
A |
2: 52,359,501 (GRCm39) |
R169L |
probably damaging |
Het |
Col13a1 |
T |
C |
10: 61,698,861 (GRCm39) |
I491V |
unknown |
Het |
Corin |
T |
C |
5: 72,497,222 (GRCm39) |
D531G |
possibly damaging |
Het |
Cx3cr1 |
C |
T |
9: 119,880,710 (GRCm39) |
V231I |
probably benign |
Het |
Dennd4c |
T |
G |
4: 86,692,517 (GRCm39) |
V9G |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Faf1 |
T |
G |
4: 109,719,076 (GRCm39) |
L394R |
probably damaging |
Het |
Fgfr4 |
G |
A |
13: 55,304,307 (GRCm39) |
D116N |
probably null |
Het |
Flt3 |
A |
G |
5: 147,293,053 (GRCm39) |
Y518H |
possibly damaging |
Het |
Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
Gk2 |
T |
A |
5: 97,603,211 (GRCm39) |
L542F |
possibly damaging |
Het |
Gm4922 |
T |
A |
10: 18,660,362 (GRCm39) |
E120V |
probably damaging |
Het |
Hip1 |
A |
T |
5: 135,457,618 (GRCm39) |
I285N |
probably benign |
Het |
Kcnd2 |
C |
A |
6: 21,217,095 (GRCm39) |
D266E |
probably damaging |
Het |
Kdr |
C |
T |
5: 76,133,089 (GRCm39) |
W63* |
probably null |
Het |
Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
Megf8 |
G |
A |
7: 25,058,627 (GRCm39) |
V2208I |
probably benign |
Het |
Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
Nktr |
T |
A |
9: 121,578,135 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
G |
17: 90,515,849 (GRCm39) |
I1207T |
probably damaging |
Het |
Obox7 |
G |
A |
7: 14,397,972 (GRCm39) |
G4D |
probably benign |
Het |
Ogdh |
G |
A |
11: 6,300,655 (GRCm39) |
W827* |
probably null |
Het |
Or13g1 |
T |
C |
7: 85,955,437 (GRCm39) |
M295V |
probably benign |
Het |
Or4c118 |
T |
A |
2: 88,974,474 (GRCm39) |
K298* |
probably null |
Het |
Or4k15c |
A |
G |
14: 50,321,173 (GRCm39) |
*322Q |
probably null |
Het |
Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Sbpl |
T |
A |
17: 24,172,617 (GRCm39) |
I101L |
probably benign |
Het |
Serpina9 |
T |
A |
12: 103,975,151 (GRCm39) |
M1L |
probably benign |
Het |
Synpo2 |
A |
G |
3: 122,908,239 (GRCm39) |
V359A |
probably damaging |
Het |
Ttyh1 |
T |
A |
7: 4,132,317 (GRCm39) |
L155H |
probably damaging |
Het |
Vil1 |
A |
G |
1: 74,471,574 (GRCm39) |
D785G |
probably benign |
Het |
Zfp345 |
G |
A |
2: 150,314,473 (GRCm39) |
H355Y |
probably 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGACAGCATCTTTCCATATG -3'
(R):5'- GAGGAAATCAGACAATGTACCTCCC -3'
Sequencing Primer
(F):5'- TCTCTTGGATTTCTCTATCAAACATG -3'
(R):5'- CACATCATTCGTCCGAAG -3'
|
Posted On |
2015-04-17 |