Incidental Mutation 'R4019:Sytl3'
| ID |
312704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sytl3
|
| Ensembl Gene |
ENSMUSG00000041831 |
| Gene Name |
synaptotagmin-like 3 |
| Synonyms |
Slp3-b, Slp3-a, Slp3 |
| MMRRC Submission |
040953-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.347)
|
| Stock # |
R4019 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
6926492-7005443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7003892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 326
(S326P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064234]
[ENSMUST00000097430]
[ENSMUST00000159394]
[ENSMUST00000159880]
[ENSMUST00000160483]
[ENSMUST00000162635]
[ENSMUST00000161118]
|
| AlphaFold |
Q99N48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064234
|
| SMART Domains |
Protein: ENSMUSP00000063734
Gene: ENSMUSG00000052397
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
1 |
206 |
7.74e-79 |
SMART |
|
FERM_C
|
210 |
299 |
1.34e-35 |
SMART |
|
Pfam:ERM
|
338 |
586 |
2.3e-73 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097430
AA Change: S531P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095041
Gene: ENSMUSG00000041831
AA Change: S531P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
8 |
124 |
6e-25 |
PFAM |
|
low complexity region
|
162 |
170 |
N/A |
INTRINSIC |
|
C2
|
321 |
426 |
9.17e-15 |
SMART |
|
C2
|
478 |
601 |
1.92e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131131
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159394
|
| SMART Domains |
Protein: ENSMUSP00000124146
Gene: ENSMUSG00000041831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
8 |
124 |
3.6e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159880
AA Change: S336P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125469
Gene: ENSMUSG00000041831
AA Change: S336P
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
116 |
221 |
9.17e-15 |
SMART |
|
C2
|
273 |
396 |
1.92e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160483
AA Change: S326P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123996
Gene: ENSMUSG00000041831
AA Change: S326P
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
126 |
231 |
9.17e-15 |
SMART |
|
C2
|
283 |
406 |
1.92e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232362
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162635
|
| SMART Domains |
Protein: ENSMUSP00000124496
Gene: ENSMUSG00000041831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
8 |
124 |
4.3e-27 |
PFAM |
|
low complexity region
|
158 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161118
|
| Meta Mutation Damage Score |
0.4505 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of peripheral membrane proteins that play a role in vesicular trafficking. This protein binds phospholipids in the presence of calcium ions. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
T |
C |
9: 106,313,978 (GRCm39) |
T61A |
possibly damaging |
Het |
| Ap4e1 |
C |
T |
2: 126,903,846 (GRCm39) |
S916F |
probably benign |
Het |
| Brpf1 |
G |
A |
6: 113,287,243 (GRCm39) |
R157Q |
probably damaging |
Het |
| Canx |
A |
T |
11: 50,190,072 (GRCm39) |
S429T |
probably damaging |
Het |
| Casz1 |
C |
T |
4: 149,017,335 (GRCm39) |
P208L |
probably benign |
Het |
| Ctnnd1 |
C |
T |
2: 84,450,302 (GRCm39) |
R306H |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,664,401 (GRCm39) |
V909A |
probably damaging |
Het |
| Epg5 |
C |
A |
18: 78,073,665 (GRCm39) |
Q2511K |
probably damaging |
Het |
| Ghitm |
G |
A |
14: 36,852,651 (GRCm39) |
A143V |
probably damaging |
Het |
| Gramd2b |
T |
C |
18: 56,612,026 (GRCm39) |
|
probably null |
Het |
| Ifitm3 |
T |
C |
7: 140,589,772 (GRCm39) |
T94A |
possibly damaging |
Het |
| Ift81 |
G |
A |
5: 122,731,192 (GRCm39) |
T321M |
probably benign |
Het |
| Ikbkb |
C |
T |
8: 23,161,728 (GRCm39) |
V387I |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lpar5 |
A |
G |
6: 125,058,638 (GRCm39) |
N120D |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,506,119 (GRCm39) |
S1950P |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,345,923 (GRCm39) |
I460V |
possibly damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,532,520 (GRCm39) |
R1743G |
probably damaging |
Het |
| Nherf4 |
A |
T |
9: 44,162,117 (GRCm39) |
|
probably null |
Het |
| Notch1 |
T |
C |
2: 26,371,154 (GRCm39) |
T311A |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,181,476 (GRCm39) |
Y1155H |
probably damaging |
Het |
| Or4c15 |
A |
G |
2: 88,760,080 (GRCm39) |
I193T |
probably benign |
Het |
| Or52k2 |
T |
C |
7: 102,253,849 (GRCm39) |
F96S |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,018 (GRCm39) |
T395I |
probably damaging |
Het |
| Pdgfb |
A |
C |
15: 79,885,923 (GRCm39) |
V108G |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,214,357 (GRCm39) |
S846P |
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,006,254 (GRCm39) |
H752L |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,356,295 (GRCm39) |
|
probably benign |
Het |
| Sco1 |
T |
G |
11: 66,954,846 (GRCm39) |
S284A |
probably benign |
Het |
| Slc25a10 |
T |
A |
11: 120,388,265 (GRCm39) |
M227K |
probably damaging |
Het |
| Sox8 |
A |
G |
17: 25,789,271 (GRCm39) |
Y76H |
probably damaging |
Het |
| Spdya |
A |
C |
17: 71,863,309 (GRCm39) |
K19N |
possibly damaging |
Het |
| Syngap1 |
C |
T |
17: 27,171,315 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
A |
G |
17: 24,923,695 (GRCm39) |
V239A |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,937,901 (GRCm39) |
I1592V |
probably benign |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,074 (GRCm39) |
D427V |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,579,017 (GRCm39) |
K830R |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,474,580 (GRCm39) |
L816* |
probably null |
Het |
| Zfp335 |
C |
T |
2: 164,743,380 (GRCm39) |
R536H |
probably damaging |
Het |
| Zfp777 |
T |
A |
6: 48,019,046 (GRCm39) |
Q296L |
probably damaging |
Het |
|
| Other mutations in Sytl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01626:Sytl3
|
APN |
17 |
7,002,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02888:Sytl3
|
APN |
17 |
7,000,483 (GRCm39) |
missense |
probably benign |
|
|
IGL02893:Sytl3
|
APN |
17 |
7,000,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Sytl3
|
UTSW |
17 |
6,973,430 (GRCm39) |
splice site |
probably benign |
|
|
R1469:Sytl3
|
UTSW |
17 |
6,954,723 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1469:Sytl3
|
UTSW |
17 |
6,954,723 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1735:Sytl3
|
UTSW |
17 |
6,982,880 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1765:Sytl3
|
UTSW |
17 |
6,967,082 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1834:Sytl3
|
UTSW |
17 |
6,995,726 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1933:Sytl3
|
UTSW |
17 |
7,000,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1952:Sytl3
|
UTSW |
17 |
6,995,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Sytl3
|
UTSW |
17 |
7,000,448 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2279:Sytl3
|
UTSW |
17 |
6,976,273 (GRCm39) |
intron |
probably benign |
|
|
R2411:Sytl3
|
UTSW |
17 |
7,003,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4853:Sytl3
|
UTSW |
17 |
7,005,164 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4857:Sytl3
|
UTSW |
17 |
7,003,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5169:Sytl3
|
UTSW |
17 |
6,982,945 (GRCm39) |
nonsense |
probably null |
|
|
R5485:Sytl3
|
UTSW |
17 |
6,982,879 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6035:Sytl3
|
UTSW |
17 |
6,995,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Sytl3
|
UTSW |
17 |
6,995,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:Sytl3
|
UTSW |
17 |
6,949,346 (GRCm39) |
intron |
probably benign |
|
|
R7792:Sytl3
|
UTSW |
17 |
7,003,977 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7836:Sytl3
|
UTSW |
17 |
6,982,774 (GRCm39) |
splice site |
probably null |
|
|
R8508:Sytl3
|
UTSW |
17 |
6,995,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8836:Sytl3
|
UTSW |
17 |
6,973,410 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9173:Sytl3
|
UTSW |
17 |
7,000,471 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTTGTAGGGAGAAGGCAC -3'
(R):5'- CACTAAGGGCATAAAACCTGTGG -3'
Sequencing Primer
(F):5'- CTTGGGGGTCTAACCTAGATCAGC -3'
(R):5'- AACCTGTGGTTTTTCACTGAAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation