Incidental Mutation 'R0696:Stx19'
| ID |
63460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stx19
|
| Ensembl Gene |
ENSMUSG00000047854 |
| Gene Name |
syntaxin 19 |
| Synonyms |
A030009B12Rik |
| MMRRC Submission |
038880-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0696 (G1)
|
| Quality Score |
143 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
62635039-62643085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62642406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 74
(K74R)
|
| 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: K74R
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000055901
Gene: ENSMUSG00000047854
AA Change: K74R
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
T |
C |
15: 97,143,855 (GRCm39) |
K189R |
probably benign |
Het |
| Arpp21 |
A |
T |
9: 112,012,657 (GRCm39) |
|
probably null |
Het |
| Atp6v1a |
G |
T |
16: 43,907,834 (GRCm39) |
Q603K |
probably benign |
Het |
| Bcorl1 |
C |
A |
X: 47,494,895 (GRCm39) |
P1722H |
probably damaging |
Het |
| Cd209a |
C |
A |
8: 3,798,384 (GRCm39) |
A55S |
possibly damaging |
Het |
| Cdh6 |
A |
G |
15: 13,051,418 (GRCm39) |
V405A |
probably benign |
Het |
| Cdsn |
A |
T |
17: 35,866,893 (GRCm39) |
Q474L |
possibly damaging |
Het |
| Col4a4 |
T |
A |
1: 82,470,270 (GRCm39) |
D753V |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,710,569 (GRCm39) |
T1569A |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,970,534 (GRCm39) |
P1084L |
probably damaging |
Het |
| Cyp7b1 |
T |
C |
3: 18,126,749 (GRCm39) |
T466A |
probably benign |
Het |
| Enpp2 |
C |
T |
15: 54,761,092 (GRCm39) |
W253* |
probably null |
Het |
| Igf2bp2 |
A |
T |
16: 21,898,875 (GRCm39) |
S245T |
probably benign |
Het |
| Lmnb1 |
A |
G |
18: 56,873,793 (GRCm39) |
T400A |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,010,538 (GRCm39) |
T724A |
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,743,373 (GRCm39) |
N560D |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,460,352 (GRCm39) |
S324P |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,536,421 (GRCm39) |
|
probably null |
Het |
| Rgma |
T |
C |
7: 73,059,160 (GRCm39) |
V88A |
probably damaging |
Het |
| Slc7a1 |
A |
T |
5: 148,277,366 (GRCm39) |
V383E |
probably benign |
Het |
| St8sia5 |
A |
G |
18: 77,342,160 (GRCm39) |
N254S |
probably damaging |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Uap1 |
G |
A |
1: 169,976,843 (GRCm39) |
P452L |
probably benign |
Het |
| Zfp101 |
C |
T |
17: 33,600,401 (GRCm39) |
A452T |
possibly damaging |
Het |
| Zfp820 |
A |
G |
17: 22,039,041 (GRCm39) |
S96P |
possibly damaging |
Het |
|
| Other mutations in Stx19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00709:Stx19
|
APN |
16 |
62,642,943 (GRCm39) |
missense |
probably benign |
0.08 |
|
PIT4520001:Stx19
|
UTSW |
16 |
62,642,871 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTATCTCACCTCAACTGCCAATGG -3'
(R):5'- CGGAACATCGCAGCATACTGAGAC -3'
Sequencing Primer
(F):5'- GGAAAAACAGCAACTCCTTTGTTC -3'
(R):5'- ACTGAGACTTCAGTATCCTTGTGAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation