Incidental Mutation 'IGL00788:Sytl2'
| ID |
14336 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sytl2
|
| Ensembl Gene |
ENSMUSG00000030616 |
| Gene Name |
synaptotagmin-like 2 |
| Synonyms |
Slp2-b, Slp2-c, Slp2-d, Slp2, Slp2-a |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
IGL00788
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
89951460-90059927 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 90031906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107210]
[ENSMUST00000107211]
[ENSMUST00000190731]
[ENSMUST00000190837]
[ENSMUST00000208720]
|
| AlphaFold |
Q99N50 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098310
|
| SMART Domains |
Protein: ENSMUSP00000095912
Gene: ENSMUSG00000030616
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
938 |
966 |
N/A |
INTRINSIC |
|
C2
|
990 |
1095 |
4.59e-15 |
SMART |
|
C2
|
1139 |
1242 |
6.44e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107210
|
| SMART Domains |
Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
5 |
59 |
5.5e-9 |
PFAM |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
328 |
N/A |
INTRINSIC |
|
C2
|
620 |
725 |
4.59e-15 |
SMART |
|
C2
|
769 |
872 |
6.44e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107211
|
| SMART Domains |
Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
5 |
59 |
5.6e-9 |
PFAM |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
620 |
N/A |
INTRINSIC |
|
C2
|
644 |
749 |
4.59e-15 |
SMART |
|
C2
|
793 |
896 |
6.44e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190365
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190731
|
| SMART Domains |
Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
5 |
59 |
5.8e-9 |
PFAM |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
636 |
N/A |
INTRINSIC |
|
C2
|
660 |
765 |
4.59e-15 |
SMART |
|
C2
|
809 |
912 |
6.44e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190837
|
| SMART Domains |
Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
5 |
59 |
5.6e-9 |
PFAM |
|
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
609 |
N/A |
INTRINSIC |
|
C2
|
633 |
738 |
4.59e-15 |
SMART |
|
C2
|
782 |
885 |
6.44e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207928
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208720
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207455
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208580
|
| Coding Region Coverage |
|
| 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 is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A). This protein plays a role in RAB27A-dependent vesicle trafficking and controls melanosome distribution in the cell periphery. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a null allele display abnormal gastric surface mucus cell morphology and reduced basal mucin secretion from gastric cells [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 |
|---|
| Akap9 |
A |
G |
5: 4,110,480 (GRCm39) |
E3061G |
probably damaging |
Het |
| Armh3 |
C |
T |
19: 45,920,789 (GRCm39) |
|
probably null |
Het |
| Casd1 |
A |
G |
6: 4,624,400 (GRCm39) |
T398A |
probably benign |
Het |
| Ceacam2 |
C |
T |
7: 25,237,998 (GRCm39) |
|
probably null |
Het |
| Chst9 |
A |
G |
18: 15,586,087 (GRCm39) |
Y159H |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,829,432 (GRCm39) |
|
probably benign |
Het |
| Cops4 |
A |
G |
5: 100,681,421 (GRCm39) |
E152G |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dpy19l1 |
A |
G |
9: 24,373,864 (GRCm39) |
|
probably benign |
Het |
| Gbp8 |
T |
A |
5: 105,198,863 (GRCm39) |
E17D |
probably benign |
Het |
| Grik5 |
G |
A |
7: 24,764,818 (GRCm39) |
H108Y |
probably damaging |
Het |
| Gsap |
G |
A |
5: 21,426,303 (GRCm39) |
|
probably benign |
Het |
| Gsap |
G |
A |
5: 21,459,022 (GRCm39) |
V496M |
probably damaging |
Het |
| Hectd1 |
C |
T |
12: 51,795,571 (GRCm39) |
S2286N |
probably damaging |
Het |
| Hgf |
A |
T |
5: 16,803,228 (GRCm39) |
Q380L |
probably damaging |
Het |
| Hsd11b1 |
C |
T |
1: 192,923,766 (GRCm39) |
M1I |
probably null |
Het |
| Kank2 |
A |
G |
9: 21,691,775 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
G |
A |
16: 19,775,812 (GRCm39) |
L249F |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,234,992 (GRCm39) |
M846L |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 142,052,069 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
A |
T |
1: 162,852,227 (GRCm39) |
S821T |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,076,241 (GRCm39) |
T819A |
probably benign |
Het |
| Neb |
A |
T |
2: 52,095,744 (GRCm39) |
|
probably benign |
Het |
| Pcyt1b |
T |
C |
X: 92,778,515 (GRCm39) |
F255L |
probably benign |
Het |
| Rttn |
T |
A |
18: 88,990,633 (GRCm39) |
S57T |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,837,114 (GRCm39) |
D121G |
probably damaging |
Het |
| Slc25a21 |
A |
T |
12: 56,760,597 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,325,487 (GRCm39) |
|
probably benign |
Het |
| Spats2l |
T |
A |
1: 57,924,864 (GRCm39) |
N87K |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,918,673 (GRCm39) |
D99G |
probably damaging |
Het |
| Trim13 |
T |
C |
14: 61,843,119 (GRCm39) |
F379L |
probably benign |
Het |
|
| Other mutations in Sytl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Sytl2
|
APN |
7 |
90,022,113 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL00657:Sytl2
|
APN |
7 |
90,050,618 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL00834:Sytl2
|
APN |
7 |
90,031,844 (GRCm39) |
intron |
probably benign |
|
|
IGL01833:Sytl2
|
APN |
7 |
90,045,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01866:Sytl2
|
APN |
7 |
90,031,047 (GRCm39) |
intron |
probably benign |
|
|
IGL02215:Sytl2
|
APN |
7 |
90,030,422 (GRCm39) |
intron |
probably benign |
|
|
IGL02934:Sytl2
|
APN |
7 |
90,025,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03095:Sytl2
|
APN |
7 |
90,041,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
finder
|
UTSW |
7 |
90,024,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
keeper
|
UTSW |
7 |
90,007,432 (GRCm39) |
nonsense |
probably null |
|
|
R0126:Sytl2
|
UTSW |
7 |
90,045,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:Sytl2
|
UTSW |
7 |
90,052,228 (GRCm39) |
splice site |
probably benign |
|
|
R0270:Sytl2
|
UTSW |
7 |
90,052,228 (GRCm39) |
splice site |
probably benign |
|
|
R0271:Sytl2
|
UTSW |
7 |
90,052,228 (GRCm39) |
splice site |
probably benign |
|
|
R0288:Sytl2
|
UTSW |
7 |
90,052,228 (GRCm39) |
splice site |
probably benign |
|
|
R0528:Sytl2
|
UTSW |
7 |
90,052,228 (GRCm39) |
splice site |
probably benign |
|
|
R0601:Sytl2
|
UTSW |
7 |
90,044,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Sytl2
|
UTSW |
7 |
90,030,061 (GRCm39) |
intron |
probably benign |
|
|
R1634:Sytl2
|
UTSW |
7 |
90,044,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Sytl2
|
UTSW |
7 |
90,052,260 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2040:Sytl2
|
UTSW |
7 |
90,031,069 (GRCm39) |
intron |
probably benign |
|
|
R3788:Sytl2
|
UTSW |
7 |
90,025,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3843:Sytl2
|
UTSW |
7 |
90,009,367 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3952:Sytl2
|
UTSW |
7 |
90,030,700 (GRCm39) |
intron |
probably benign |
|
|
R4082:Sytl2
|
UTSW |
7 |
90,057,635 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4600:Sytl2
|
UTSW |
7 |
90,024,977 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4651:Sytl2
|
UTSW |
7 |
90,024,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Sytl2
|
UTSW |
7 |
89,998,000 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4730:Sytl2
|
UTSW |
7 |
90,030,457 (GRCm39) |
intron |
probably benign |
|
|
R4870:Sytl2
|
UTSW |
7 |
90,038,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:Sytl2
|
UTSW |
7 |
90,025,245 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4995:Sytl2
|
UTSW |
7 |
90,031,465 (GRCm39) |
intron |
probably benign |
|
|
R5009:Sytl2
|
UTSW |
7 |
90,030,523 (GRCm39) |
intron |
probably benign |
|
|
R5096:Sytl2
|
UTSW |
7 |
90,025,290 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5191:Sytl2
|
UTSW |
7 |
90,024,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5305:Sytl2
|
UTSW |
7 |
90,031,071 (GRCm39) |
intron |
probably benign |
|
|
R5538:Sytl2
|
UTSW |
7 |
90,038,114 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5792:Sytl2
|
UTSW |
7 |
90,024,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6378:Sytl2
|
UTSW |
7 |
90,007,432 (GRCm39) |
nonsense |
probably null |
|
|
R6982:Sytl2
|
UTSW |
7 |
90,045,772 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7456:Sytl2
|
UTSW |
7 |
89,998,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7600:Sytl2
|
UTSW |
7 |
90,025,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8127:Sytl2
|
UTSW |
7 |
90,024,798 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8171:Sytl2
|
UTSW |
7 |
90,058,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8225:Sytl2
|
UTSW |
7 |
90,024,725 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8297:Sytl2
|
UTSW |
7 |
90,034,283 (GRCm39) |
missense |
probably benign |
|
|
R8843:Sytl2
|
UTSW |
7 |
90,025,334 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8929:Sytl2
|
UTSW |
7 |
90,024,810 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9027:Sytl2
|
UTSW |
7 |
90,028,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9222:Sytl2
|
UTSW |
7 |
90,050,633 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9246:Sytl2
|
UTSW |
7 |
90,007,384 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9268:Sytl2
|
UTSW |
7 |
90,034,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9399:Sytl2
|
UTSW |
7 |
90,041,658 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9480:Sytl2
|
UTSW |
7 |
90,020,718 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9573:Sytl2
|
UTSW |
7 |
90,057,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9583:Sytl2
|
UTSW |
7 |
90,024,800 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2012-12-06 |
Incidental Mutation