Incidental Mutation 'IGL02693:Sytl1'
| ID |
303815 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sytl1
|
| Ensembl Gene |
ENSMUSG00000028860 |
| Gene Name |
synaptotagmin-like 1 |
| Synonyms |
PSGL-1, Slp1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02693
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
132980401-132990398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 132985057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 180
(C180S)
|
| 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 benign
Transcript: ENSMUST00000030674
AA Change: C180S
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000030674
Gene: ENSMUSG00000028860
AA Change: C180S
| 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: C168S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101528
Gene: ENSMUSG00000028860
AA Change: C168S
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
G |
1: 11,666,506 (GRCm39) |
D271G |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,540,077 (GRCm39) |
V1478E |
possibly damaging |
Het |
| Ckap5 |
C |
T |
2: 91,400,556 (GRCm39) |
P636L |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,500,113 (GRCm39) |
V127A |
probably damaging |
Het |
| Cs |
A |
G |
10: 128,185,678 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
G |
A |
15: 85,113,775 (GRCm39) |
E170K |
probably benign |
Het |
| Gm5866 |
A |
T |
5: 52,740,558 (GRCm39) |
|
noncoding transcript |
Het |
| Lpin3 |
T |
C |
2: 160,746,975 (GRCm39) |
V794A |
probably damaging |
Het |
| Ly86 |
T |
G |
13: 37,559,005 (GRCm39) |
I68S |
probably damaging |
Het |
| Mrps34 |
A |
G |
17: 25,114,172 (GRCm39) |
I11V |
probably benign |
Het |
| Nsmce4a |
A |
G |
7: 130,144,538 (GRCm39) |
S122P |
probably damaging |
Het |
| Olfm1 |
A |
G |
2: 28,102,662 (GRCm39) |
E112G |
probably damaging |
Het |
| Or5w20 |
T |
G |
2: 87,726,877 (GRCm39) |
C111W |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,777,340 (GRCm39) |
E428G |
probably benign |
Het |
| Phkb |
T |
G |
8: 86,668,863 (GRCm39) |
F297V |
probably damaging |
Het |
| Pianp |
T |
G |
6: 124,978,598 (GRCm39) |
F268V |
possibly damaging |
Het |
| Polr1a |
T |
C |
6: 71,940,830 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,101,855 (GRCm39) |
G2453E |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,643,699 (GRCm39) |
N350D |
probably damaging |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Rfc4 |
A |
G |
16: 22,932,960 (GRCm39) |
S326P |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Slc35f1 |
A |
T |
10: 52,809,224 (GRCm39) |
L70F |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,583,947 (GRCm39) |
T448A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,121,092 (GRCm39) |
I3973V |
probably benign |
Het |
| Spmip9 |
C |
A |
6: 70,890,488 (GRCm39) |
R101S |
possibly damaging |
Het |
| Stoml1 |
T |
A |
9: 58,164,359 (GRCm39) |
I149N |
probably damaging |
Het |
| Traf6 |
T |
C |
2: 101,518,850 (GRCm39) |
L113P |
possibly damaging |
Het |
| Trappc9 |
A |
G |
15: 72,835,542 (GRCm39) |
|
probably benign |
Het |
| Tubg2 |
T |
C |
11: 101,051,725 (GRCm39) |
Y317H |
probably damaging |
Het |
| Zfp334 |
T |
C |
2: 165,222,433 (GRCm39) |
T537A |
possibly 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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation