Incidental Mutation 'IGL01414:Stx6'
| ID |
80164 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stx6
|
| Ensembl Gene |
ENSMUSG00000026470 |
| Gene Name |
syntaxin 6 |
| Synonyms |
2310039E05Rik, 2410005I16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
IGL01414
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
155034374-155083405 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 155077691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 233
(R233C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027743]
[ENSMUST00000193059]
[ENSMUST00000195302]
|
| AlphaFold |
Q9JKK1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027743
AA Change: R233C
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027743
Gene: ENSMUSG00000026470
AA Change: R233C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaxin-6_N
|
5 |
103 |
1.9e-41 |
PFAM |
|
t_SNARE
|
158 |
225 |
3.77e-15 |
SMART |
|
transmembrane domain
|
235 |
254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192690
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193059
|
| SMART Domains |
Protein: ENSMUSP00000141976
Gene: ENSMUSG00000026470
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaxin-6_N
|
5 |
103 |
4.2e-32 |
PFAM |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
Blast:t_SNARE
|
176 |
199 |
5e-7 |
BLAST |
|
PDB:2NPS|D
|
176 |
199 |
4e-8 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195302
|
| SMART Domains |
Protein: ENSMUSP00000142089
Gene: ENSMUSG00000026470
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaxin-6_N
|
5 |
103 |
5.1e-35 |
PFAM |
|
t_SNARE
|
158 |
225 |
3.77e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195693
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
C |
T |
4: 156,279,696 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
T |
A |
10: 79,862,938 (GRCm39) |
S705T |
probably damaging |
Het |
| B4galt4 |
A |
G |
16: 38,578,153 (GRCm39) |
E200G |
probably damaging |
Het |
| Cdh12 |
A |
T |
15: 21,492,775 (GRCm39) |
N265Y |
probably damaging |
Het |
| Cerk |
T |
A |
15: 86,043,343 (GRCm39) |
T153S |
probably benign |
Het |
| Ect2 |
A |
T |
3: 27,181,878 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,511,467 (GRCm39) |
|
probably benign |
Het |
| Gm26920 |
T |
G |
7: 29,767,503 (GRCm39) |
|
probably benign |
Het |
| Ighv1-66 |
T |
C |
12: 115,556,929 (GRCm39) |
Y51C |
probably benign |
Het |
| Ints1 |
T |
C |
5: 139,744,253 (GRCm39) |
D1503G |
probably benign |
Het |
| Lhpp |
A |
G |
7: 132,244,249 (GRCm39) |
K189E |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,233,298 (GRCm39) |
T606A |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,545,681 (GRCm39) |
|
probably null |
Het |
| Nckap5 |
G |
T |
1: 126,456,450 (GRCm39) |
Q38K |
probably damaging |
Het |
| Nlgn3 |
A |
G |
X: 100,345,866 (GRCm39) |
I93V |
probably benign |
Het |
| Nxpe2 |
A |
G |
9: 48,231,923 (GRCm39) |
F345L |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,549 (GRCm39) |
N339S |
probably damaging |
Het |
| Rbbp7 |
T |
A |
X: 161,557,577 (GRCm39) |
I322N |
probably damaging |
Het |
| Rigi |
C |
A |
4: 40,222,176 (GRCm39) |
V368F |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,672,837 (GRCm39) |
F855L |
probably damaging |
Het |
| Scin |
A |
T |
12: 40,174,698 (GRCm39) |
H128Q |
probably damaging |
Het |
| Sema4g |
A |
G |
19: 44,986,435 (GRCm39) |
Y337C |
probably damaging |
Het |
| Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
| Trem3 |
G |
T |
17: 48,556,843 (GRCm39) |
V105L |
probably benign |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,942 (GRCm39) |
M194L |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,658,704 (GRCm39) |
D402E |
probably benign |
Het |
|
| Other mutations in Stx6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Stx6
|
APN |
1 |
155,077,679 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02376:Stx6
|
APN |
1 |
155,077,725 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02415:Stx6
|
APN |
1 |
155,069,059 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0276:Stx6
|
UTSW |
1 |
155,049,909 (GRCm39) |
splice site |
probably benign |
|
|
R0709:Stx6
|
UTSW |
1 |
155,069,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1218:Stx6
|
UTSW |
1 |
155,077,737 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1484:Stx6
|
UTSW |
1 |
155,053,650 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2366:Stx6
|
UTSW |
1 |
155,077,706 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2389:Stx6
|
UTSW |
1 |
155,073,164 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3125:Stx6
|
UTSW |
1 |
155,034,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4924:Stx6
|
UTSW |
1 |
155,049,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Stx6
|
UTSW |
1 |
155,073,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7369:Stx6
|
UTSW |
1 |
155,073,130 (GRCm39) |
nonsense |
probably null |
|
|
R8222:Stx6
|
UTSW |
1 |
155,073,889 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9214:Stx6
|
UTSW |
1 |
155,067,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation