Incidental Mutation 'R2411:Sytl3'
| ID |
250013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sytl3
|
| Ensembl Gene |
ENSMUSG00000041831 |
| Gene Name |
synaptotagmin-like 3 |
| Synonyms |
Slp3-b, Slp3-a, Slp3 |
| MMRRC Submission |
040376-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.263)
|
| Stock # |
R2411 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 93.9%
|
| Validation Efficiency |
98% (42/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 4933402D24Rik |
A |
G |
1: 63,795,373 (GRCm39) |
|
probably benign |
Het |
| 9030612E09Rik |
G |
T |
10: 43,050,796 (GRCm39) |
R30L |
possibly damaging |
Het |
| Aadacl2 |
A |
G |
3: 59,924,844 (GRCm39) |
D137G |
possibly damaging |
Het |
| Acad11 |
T |
G |
9: 103,963,222 (GRCm39) |
|
probably benign |
Het |
| Acap1 |
A |
T |
11: 69,776,311 (GRCm39) |
N229K |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,369,898 (GRCm39) |
T666A |
probably damaging |
Het |
| Btbd16 |
T |
C |
7: 130,391,954 (GRCm39) |
F160L |
probably damaging |
Het |
| Clock |
A |
C |
5: 76,379,360 (GRCm39) |
H525Q |
probably benign |
Het |
| Col6a1 |
G |
T |
10: 76,546,922 (GRCm39) |
Q767K |
unknown |
Het |
| Creld1 |
A |
G |
6: 113,466,737 (GRCm39) |
H240R |
probably benign |
Het |
| Dlg4 |
G |
A |
11: 69,932,755 (GRCm39) |
|
probably null |
Het |
| Fam204a |
A |
T |
19: 60,187,870 (GRCm39) |
*237R |
probably null |
Het |
| Filip1 |
T |
A |
9: 79,805,715 (GRCm39) |
N13I |
probably damaging |
Het |
| Gm14295 |
G |
T |
2: 176,499,206 (GRCm39) |
A19S |
probably benign |
Het |
| Hddc3 |
A |
T |
7: 79,993,341 (GRCm39) |
Q56L |
probably damaging |
Het |
| Hes6 |
A |
C |
1: 91,340,986 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
A |
G |
3: 95,487,326 (GRCm39) |
D270G |
probably benign |
Het |
| Ifitm1 |
A |
G |
7: 140,549,711 (GRCm39) |
|
probably null |
Het |
| Igbp1b |
A |
C |
6: 138,634,871 (GRCm39) |
V191G |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,072,517 (GRCm39) |
N316K |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,914,453 (GRCm39) |
Y566C |
probably damaging |
Het |
| Map4k4 |
A |
G |
1: 40,046,656 (GRCm39) |
D775G |
probably damaging |
Het |
| Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,155,662 (GRCm39) |
R864W |
probably damaging |
Het |
| Nckap1l |
C |
A |
15: 103,391,995 (GRCm39) |
P810Q |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or14c44 |
T |
C |
7: 86,062,290 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or1ad1 |
A |
G |
11: 50,875,758 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a27 |
C |
T |
2: 88,559,741 (GRCm39) |
M67I |
probably benign |
Het |
| Ppp2r3c |
T |
C |
12: 55,345,269 (GRCm39) |
K73R |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,498,780 (GRCm39) |
F1311Y |
probably damaging |
Het |
| Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,379,497 (GRCm39) |
E1104G |
possibly damaging |
Het |
| St14 |
G |
A |
9: 31,019,530 (GRCm39) |
T97I |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,281,290 (GRCm39) |
|
probably benign |
Het |
| Tor1b |
G |
T |
2: 30,845,824 (GRCm39) |
S167I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,359 (GRCm39) |
E27511D |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,306,258 (GRCm39) |
|
probably benign |
Het |
| Vmn1r10 |
G |
T |
6: 57,091,124 (GRCm39) |
V239F |
probably benign |
Het |
| Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
| Zfp160 |
C |
T |
17: 21,246,007 (GRCm39) |
R186C |
possibly damaging |
Het |
| Zfp869 |
A |
G |
8: 70,159,179 (GRCm39) |
C465R |
probably damaging |
Het |
| Zfp957 |
T |
C |
14: 79,451,782 (GRCm39) |
K6E |
unknown |
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 |
|
|
R4019: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'- AAGGCACATGGACAGGCTTG -3'
(R):5'- CGTGTCAGGCAATCACTAAGG -3'
Sequencing Primer
(F):5'- CTTGGGGGTCTAACCTAGATCAGC -3'
(R):5'- TCACTAAGGGCATAAAACCTGTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation