Incidental Mutation 'R1135:Sytl1'
| ID |
94903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sytl1
|
| Ensembl Gene |
ENSMUSG00000028860 |
| Gene Name |
synaptotagmin-like 1 |
| Synonyms |
PSGL-1, Slp1 |
| MMRRC Submission |
039208-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1135 (G1)
|
| Quality Score |
206 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
132980401-132990398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 132984281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 274
(G274D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030674]
[ENSMUST00000030677]
[ENSMUST00000105908]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030674
AA Change: G274D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030674
Gene: ENSMUSG00000028860
AA Change: G274D
| 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 damaging
Transcript: ENSMUST00000105908
AA Change: G262D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101528
Gene: ENSMUSG00000028860
AA Change: G262D
| 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: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
G |
T |
4: 148,029,115 (GRCm39) |
V362L |
probably benign |
Het |
| Ak5 |
T |
A |
3: 152,359,299 (GRCm39) |
L166F |
probably damaging |
Het |
| Camk2a |
T |
A |
18: 61,090,468 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,839,498 (GRCm39) |
I643N |
probably damaging |
Het |
| Fibin |
G |
A |
2: 110,192,567 (GRCm39) |
H192Y |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,972,384 (GRCm39) |
|
probably null |
Het |
| Lct |
A |
G |
1: 128,221,861 (GRCm39) |
|
probably null |
Het |
| Msantd2 |
A |
G |
9: 37,434,008 (GRCm39) |
I83V |
probably damaging |
Het |
| Myh10 |
A |
T |
11: 68,698,023 (GRCm39) |
M1622L |
probably benign |
Het |
| Nkx2-4 |
G |
T |
2: 146,926,328 (GRCm39) |
S178* |
probably null |
Het |
| Nox4 |
C |
T |
7: 86,972,997 (GRCm39) |
P335S |
probably damaging |
Het |
| Rab3gap2 |
G |
A |
1: 185,008,140 (GRCm39) |
R1085Q |
possibly damaging |
Het |
| Skint10 |
C |
T |
4: 112,568,660 (GRCm39) |
W352* |
probably null |
Het |
| Srsf4 |
T |
G |
4: 131,627,380 (GRCm39) |
|
probably benign |
Het |
| Tbck |
T |
A |
3: 132,437,952 (GRCm39) |
I459N |
probably damaging |
Het |
| Trhr2 |
A |
G |
8: 123,085,372 (GRCm39) |
L204P |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,159 (GRCm39) |
T1145A |
probably benign |
Het |
| Wnk2 |
G |
A |
13: 49,230,034 (GRCm39) |
P830L |
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 |
|
R0677:Sytl1
|
UTSW |
4 |
132,980,536 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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'- ACAGGCATCCAATTTAAGACGCCTC -3'
(R):5'- CAGCCTCAATTCCTCTACGGTGAAG -3'
Sequencing Primer
(F):5'- gcccattttgaagaagagaaaac -3'
(R):5'- TCCTCTACGGTGAAGAGCTAGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation