Incidental Mutation 'R0677:Sytl1'
| ID |
61669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sytl1
|
| Ensembl Gene |
ENSMUSG00000028860 |
| Gene Name |
synaptotagmin-like 1 |
| Synonyms |
PSGL-1, Slp1 |
| MMRRC Submission |
038862-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0677 (G1)
|
| Quality Score |
87 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
132980401-132990398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 132980536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 551
(C551S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030674]
[ENSMUST00000030677]
[ENSMUST00000105908]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030674
AA Change: C551S
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030674
Gene: ENSMUSG00000028860
AA Change: C551S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3BC1|F
|
40 |
92 |
2e-9 |
PDB |
|
low complexity region
|
169 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
262 |
N/A |
INTRINSIC |
|
C2
|
288 |
389 |
2.36e-17 |
SMART |
|
C2
|
429 |
532 |
6.96e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030677
|
| SMART Domains |
Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:DUF4071
|
130 |
508 |
2.3e-150 |
PFAM |
|
S_TKc
|
649 |
907 |
3.49e-87 |
SMART |
|
low complexity region
|
925 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
947 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
990 |
N/A |
INTRINSIC |
|
low complexity region
|
1130 |
1146 |
N/A |
INTRINSIC |
|
coiled coil region
|
1164 |
1195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105908
AA Change: C486S
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000101528
Gene: ENSMUSG00000028860
AA Change: C486S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3BC1|F
|
40 |
92 |
2e-9 |
PDB |
|
low complexity region
|
157 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
250 |
N/A |
INTRINSIC |
|
C2
|
276 |
359 |
3.15e-4 |
SMART |
|
C2
|
364 |
467 |
6.96e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154911
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit increased number of acinar zygomen granules in a fasted state that can be released by strong stimuli of the fed state. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
G |
A |
6: 132,603,520 (GRCm39) |
Q79* |
probably null |
Het |
| Apol8 |
A |
C |
15: 77,634,051 (GRCm39) |
I175S |
probably damaging |
Het |
| BC004004 |
T |
C |
17: 29,517,638 (GRCm39) |
F284S |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dchs1 |
G |
A |
7: 105,414,191 (GRCm39) |
R875C |
probably damaging |
Het |
| Depdc5 |
A |
C |
5: 33,058,814 (GRCm39) |
N261T |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,073,544 (GRCm39) |
C334* |
probably null |
Het |
| Galnt5 |
T |
A |
2: 57,888,992 (GRCm39) |
Y197* |
probably null |
Het |
| Gp5 |
A |
G |
16: 30,127,193 (GRCm39) |
S494P |
probably benign |
Het |
| Ifnlr1 |
T |
A |
4: 135,432,945 (GRCm39) |
D460E |
possibly damaging |
Het |
| Mrgpra4 |
C |
T |
7: 47,630,728 (GRCm39) |
S291N |
probably benign |
Het |
| Msh4 |
G |
A |
3: 153,585,004 (GRCm39) |
P367S |
possibly damaging |
Het |
| Myct1 |
G |
T |
10: 5,554,261 (GRCm39) |
V43F |
probably benign |
Het |
| Ndst2 |
G |
A |
14: 20,779,647 (GRCm39) |
R198W |
probably benign |
Het |
| Ogdhl |
A |
T |
14: 32,061,882 (GRCm39) |
H500L |
probably damaging |
Het |
| Or52s1 |
C |
T |
7: 102,862,005 (GRCm39) |
R302* |
probably null |
Het |
| Or6c2b |
T |
A |
10: 128,947,947 (GRCm39) |
M116L |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,594,454 (GRCm39) |
G1220S |
probably benign |
Het |
| Slc26a4 |
A |
G |
12: 31,599,910 (GRCm39) |
|
probably null |
Het |
| Spata31g1 |
T |
A |
4: 42,970,952 (GRCm39) |
L59* |
probably null |
Het |
| Uri1 |
T |
C |
7: 37,664,925 (GRCm39) |
N256D |
probably benign |
Het |
| Vmn2r114 |
T |
G |
17: 23,529,568 (GRCm39) |
D178A |
probably damaging |
Het |
| Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,221,577 (GRCm39) |
L685P |
probably damaging |
Het |
| Wipi2 |
A |
T |
5: 142,643,989 (GRCm39) |
I124F |
probably damaging |
Het |
|
| Other mutations in Sytl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01899:Sytl1
|
APN |
4 |
132,986,167 (GRCm39) |
splice site |
probably null |
|
|
IGL02693:Sytl1
|
APN |
4 |
132,985,057 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02721:Sytl1
|
APN |
4 |
132,986,189 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02975:Sytl1
|
APN |
4 |
132,988,343 (GRCm39) |
missense |
probably benign |
0.05 |
|
FR4304:Sytl1
|
UTSW |
4 |
132,984,304 (GRCm39) |
small deletion |
probably benign |
|
|
R0242:Sytl1
|
UTSW |
4 |
132,980,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Sytl1
|
UTSW |
4 |
132,980,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1135:Sytl1
|
UTSW |
4 |
132,984,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1269:Sytl1
|
UTSW |
4 |
132,983,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Sytl1
|
UTSW |
4 |
132,983,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2106:Sytl1
|
UTSW |
4 |
132,984,774 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3938:Sytl1
|
UTSW |
4 |
132,982,935 (GRCm39) |
nonsense |
probably null |
|
|
R4210:Sytl1
|
UTSW |
4 |
132,980,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Sytl1
|
UTSW |
4 |
132,982,893 (GRCm39) |
nonsense |
probably null |
|
|
R5027:Sytl1
|
UTSW |
4 |
132,983,530 (GRCm39) |
intron |
probably benign |
|
|
R5325:Sytl1
|
UTSW |
4 |
132,988,382 (GRCm39) |
start gained |
probably benign |
|
|
R5557:Sytl1
|
UTSW |
4 |
132,986,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Sytl1
|
UTSW |
4 |
132,988,309 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8235:Sytl1
|
UTSW |
4 |
132,988,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9086:Sytl1
|
UTSW |
4 |
132,988,175 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9183:Sytl1
|
UTSW |
4 |
132,980,934 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9515:Sytl1
|
UTSW |
4 |
132,986,291 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9516:Sytl1
|
UTSW |
4 |
132,986,291 (GRCm39) |
critical splice donor site |
probably null |
|
|
T0722:Sytl1
|
UTSW |
4 |
132,984,164 (GRCm39) |
splice site |
probably benign |
|
|
T0722:Sytl1
|
UTSW |
4 |
132,984,162 (GRCm39) |
splice site |
probably benign |
|
|
T0975:Sytl1
|
UTSW |
4 |
132,984,305 (GRCm39) |
small deletion |
probably benign |
|
|
Z1176:Sytl1
|
UTSW |
4 |
132,984,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTGAGTGATGACATCAAAGGAC -3'
(R):5'- TGGGCACAATGCATAATCTGGGAC -3'
Sequencing Primer
(F):5'- AGAACACTTGCTACCATGCTTG -3'
(R):5'- CCAGAAAGTTGCTCTTGGGAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation