Incidental Mutation 'IGL00709:Stx19'
| ID |
14290 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stx19
|
| Ensembl Gene |
ENSMUSG00000047854 |
| Gene Name |
syntaxin 19 |
| Synonyms |
A030009B12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00709
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
62635039-62643085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62642943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 253
(N253S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055557]
[ENSMUST00000089289]
[ENSMUST00000232561]
|
| AlphaFold |
Q8R1Q0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055557
AA Change: N253S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000055901
Gene: ENSMUSG00000047854
AA Change: N253S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SynN
|
51 |
161 |
4e-18 |
BLAST |
|
t_SNARE
|
202 |
269 |
3.21e-9 |
SMART |
|
low complexity region
|
277 |
289 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089289
|
| SMART Domains |
Protein: ENSMUSP00000086703
Gene: ENSMUSG00000022911
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
8 |
190 |
8.2e-43 |
PFAM |
|
Pfam:SRPRB
|
19 |
157 |
7.1e-8 |
PFAM |
|
Pfam:Roc
|
23 |
134 |
5.4e-9 |
PFAM |
|
Pfam:Ras
|
23 |
183 |
3.1e-10 |
PFAM |
|
low complexity region
|
207 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232561
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v1d |
T |
C |
12: 78,896,528 (GRCm39) |
H113R |
probably benign |
Het |
| Cd59a |
A |
G |
2: 103,944,425 (GRCm39) |
N91S |
probably benign |
Het |
| Ddx21 |
C |
A |
10: 62,434,181 (GRCm39) |
E193* |
probably null |
Het |
| Mink1 |
T |
A |
11: 70,503,845 (GRCm39) |
I1255N |
probably damaging |
Het |
| Orc1 |
G |
T |
4: 108,447,975 (GRCm39) |
|
probably null |
Het |
| Prelid2 |
T |
A |
18: 42,045,488 (GRCm39) |
N141Y |
probably damaging |
Het |
| Rad50 |
A |
G |
11: 53,560,469 (GRCm39) |
L1051S |
possibly damaging |
Het |
| Sidt1 |
C |
T |
16: 44,082,374 (GRCm39) |
|
probably benign |
Het |
| Slc25a24 |
A |
G |
3: 109,066,670 (GRCm39) |
K275E |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,689,621 (GRCm39) |
Y261C |
probably damaging |
Het |
| Wdr62 |
A |
G |
7: 29,941,486 (GRCm39) |
L706P |
probably benign |
Het |
|
| Other mutations in Stx19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4520001:Stx19
|
UTSW |
16 |
62,642,871 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0696:Stx19
|
UTSW |
16 |
62,642,406 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1429:Stx19
|
UTSW |
16 |
62,642,960 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1762:Stx19
|
UTSW |
16 |
62,642,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4198:Stx19
|
UTSW |
16 |
62,643,039 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4720:Stx19
|
UTSW |
16 |
62,642,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4726:Stx19
|
UTSW |
16 |
62,642,495 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4745:Stx19
|
UTSW |
16 |
62,642,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5224:Stx19
|
UTSW |
16 |
62,642,937 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5297:Stx19
|
UTSW |
16 |
62,642,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Stx19
|
UTSW |
16 |
62,642,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Stx19
|
UTSW |
16 |
62,642,567 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7783:Stx19
|
UTSW |
16 |
62,642,649 (GRCm39) |
missense |
probably benign |
|
|
R8096:Stx19
|
UTSW |
16 |
62,642,524 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8786:Stx19
|
UTSW |
16 |
62,642,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation