Incidental Mutation 'R2389:Stx6'
| ID |
247718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stx6
|
| Ensembl Gene |
ENSMUSG00000026470 |
| Gene Name |
syntaxin 6 |
| Synonyms |
2310039E05Rik, 2410005I16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R2389 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
155034374-155083405 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155073164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 225
(V225A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027743]
[ENSMUST00000193059]
[ENSMUST00000195302]
|
| AlphaFold |
Q9JKK1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027743
AA Change: V225A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027743
Gene: ENSMUSG00000026470
AA Change: V225A
| 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 |
noncoding transcript
Transcript: ENSMUST00000192311
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000192690
AA Change: V79A
|
| 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 |
possibly damaging
Transcript: ENSMUST00000195302
AA Change: V225A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142089
Gene: ENSMUSG00000026470
AA Change: V225A
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
T |
C |
2: 158,467,132 (GRCm39) |
V24A |
probably benign |
Het |
| Adrm1 |
C |
A |
2: 179,816,116 (GRCm39) |
|
probably benign |
Het |
| Cdk13 |
T |
A |
13: 17,926,361 (GRCm39) |
H813L |
probably damaging |
Het |
| Cdkal1 |
T |
A |
13: 29,736,219 (GRCm39) |
H300L |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 133,961,057 (GRCm39) |
I235V |
probably benign |
Het |
| Ctnnd1 |
T |
A |
2: 84,454,615 (GRCm39) |
Q11L |
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,122,618 (GRCm39) |
I2113V |
possibly damaging |
Het |
| Eng |
T |
C |
2: 32,547,684 (GRCm39) |
|
probably null |
Het |
| Gria2 |
A |
G |
3: 80,609,932 (GRCm39) |
W626R |
probably damaging |
Het |
| Kctd1 |
A |
G |
18: 15,195,268 (GRCm39) |
S452P |
possibly damaging |
Het |
| Kdm4c |
T |
C |
4: 74,252,107 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Nat8f7 |
C |
A |
6: 85,684,476 (GRCm39) |
M121I |
probably benign |
Het |
| Ppfibp1 |
A |
T |
6: 146,923,669 (GRCm39) |
H667L |
probably damaging |
Het |
| Pramel31 |
T |
A |
4: 144,089,983 (GRCm39) |
L341H |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,280,670 (GRCm39) |
N452D |
possibly damaging |
Het |
| Rab17 |
T |
C |
1: 90,891,926 (GRCm39) |
T33A |
probably benign |
Het |
| Rxfp3 |
A |
G |
15: 11,036,770 (GRCm39) |
C201R |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,014,153 (GRCm39) |
Y2142C |
probably benign |
Het |
| Ugt2b5 |
G |
A |
5: 87,275,541 (GRCm39) |
P437S |
probably damaging |
Het |
| Usp13 |
A |
G |
3: 32,959,613 (GRCm39) |
K568R |
probably benign |
Het |
| Zan |
A |
G |
5: 137,474,642 (GRCm39) |
|
probably null |
Het |
| Zbtb8b |
T |
C |
4: 129,327,066 (GRCm39) |
E33G |
probably benign |
Het |
| Zcchc17 |
T |
A |
4: 130,220,997 (GRCm39) |
K185* |
probably null |
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 |
|
|
IGL01414:Stx6
|
APN |
1 |
155,077,691 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCTCAGCTACACCGAGTG -3'
(R):5'- CTCGAAAACGTGTAACAGGAAC -3'
Sequencing Primer
(F):5'- CAGACCCTGCTAAGGTTGTTGAC -3'
(R):5'- GGAACAAGACTTTCCCAACGTGTAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation