Incidental Mutation 'IGL00834:Sytl2'
ID |
14335 |
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 # |
IGL00834
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
89951460-90059927 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 90031844 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: ENSMUST00000208486
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207629
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208720
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207455
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207431
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207928
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209188
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207064
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207872
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208580
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208809
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
A |
G |
13: 4,562,664 (GRCm39) |
|
probably null |
Het |
Alg5 |
T |
C |
3: 54,652,140 (GRCm39) |
|
probably benign |
Het |
App |
A |
T |
16: 84,762,599 (GRCm39) |
F675I |
probably damaging |
Het |
Atad1 |
C |
A |
19: 32,675,968 (GRCm39) |
C152F |
probably benign |
Het |
Atp2a3 |
A |
C |
11: 72,873,613 (GRCm39) |
I829L |
probably damaging |
Het |
B3galt1 |
C |
T |
2: 67,949,050 (GRCm39) |
S255L |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,964,754 (GRCm39) |
V1417A |
possibly damaging |
Het |
Cast |
T |
A |
13: 74,885,093 (GRCm39) |
T219S |
probably damaging |
Het |
Cep95 |
A |
T |
11: 106,709,043 (GRCm39) |
I705F |
probably damaging |
Het |
Cnot3 |
C |
T |
7: 3,653,854 (GRCm39) |
A2V |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,840,204 (GRCm39) |
D1084G |
unknown |
Het |
Col5a3 |
G |
A |
9: 20,697,685 (GRCm39) |
Q873* |
probably null |
Het |
Cubn |
C |
T |
2: 13,386,738 (GRCm39) |
G1509D |
probably damaging |
Het |
Defb10 |
T |
A |
8: 22,351,952 (GRCm39) |
C66S |
possibly damaging |
Het |
Dennd4b |
T |
C |
3: 90,186,993 (GRCm39) |
|
probably null |
Het |
Dido1 |
G |
A |
2: 180,331,319 (GRCm39) |
T43M |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,506,091 (GRCm39) |
V3812I |
probably benign |
Het |
Islr2 |
T |
C |
9: 58,107,069 (GRCm39) |
T64A |
probably benign |
Het |
Kif2b |
A |
T |
11: 91,467,206 (GRCm39) |
I359N |
probably damaging |
Het |
Kit |
A |
C |
5: 75,806,619 (GRCm39) |
N704T |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,918,343 (GRCm39) |
F604L |
probably damaging |
Het |
Lrp5 |
A |
T |
19: 3,699,404 (GRCm39) |
F294I |
probably benign |
Het |
Lrrn1 |
A |
G |
6: 107,545,269 (GRCm39) |
T356A |
probably benign |
Het |
Mrps17 |
G |
A |
5: 129,793,829 (GRCm39) |
V8I |
probably benign |
Het |
Nop56 |
T |
A |
2: 130,117,915 (GRCm39) |
H130Q |
possibly damaging |
Het |
Plg |
T |
A |
17: 12,630,380 (GRCm39) |
L639Q |
probably damaging |
Het |
Ppcdc |
A |
G |
9: 57,322,423 (GRCm39) |
F159L |
probably benign |
Het |
Ppp1ca |
A |
G |
19: 4,244,519 (GRCm39) |
T193A |
probably benign |
Het |
Prpf39 |
A |
G |
12: 65,090,037 (GRCm39) |
D117G |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,289,145 (GRCm39) |
T51K |
possibly damaging |
Het |
Tenm2 |
T |
A |
11: 35,915,085 (GRCm39) |
I2150F |
probably damaging |
Het |
Wdr11 |
T |
G |
7: 129,194,817 (GRCm39) |
|
probably null |
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 |
IGL00788:Sytl2
|
APN |
7 |
90,031,906 (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 |