Incidental Mutation 'IGL01866:Sytl2'
| ID |
178538 |
| 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 # |
IGL01866
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
89951460-90059927 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 90031047 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: ENSMUST00000207431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208720
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207455
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207629
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
C |
4: 144,255,119 (GRCm39) |
Y180H |
possibly damaging |
Het |
| Abi3bp |
A |
T |
16: 56,492,336 (GRCm39) |
I1361L |
probably benign |
Het |
| Amph |
A |
T |
13: 19,326,172 (GRCm39) |
D634V |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,583,871 (GRCm39) |
V317I |
possibly damaging |
Het |
| Ap4e1 |
G |
A |
2: 126,888,830 (GRCm39) |
V460I |
possibly damaging |
Het |
| Arhgap19 |
A |
T |
19: 41,775,016 (GRCm39) |
H198Q |
probably benign |
Het |
| Cacna1g |
C |
T |
11: 94,347,937 (GRCm39) |
G717D |
probably damaging |
Het |
| Camkk2 |
A |
G |
5: 122,902,013 (GRCm39) |
S99P |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,475,570 (GRCm39) |
Y371* |
probably null |
Het |
| Cbl |
A |
T |
9: 44,065,122 (GRCm39) |
C735* |
probably null |
Het |
| Ccdc146 |
C |
A |
5: 21,538,052 (GRCm39) |
A91S |
probably damaging |
Het |
| Col1a2 |
G |
T |
6: 4,524,132 (GRCm39) |
D531Y |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,486,550 (GRCm39) |
T1042S |
probably benign |
Het |
| Dtnb |
A |
G |
12: 3,782,626 (GRCm39) |
Y363C |
probably benign |
Het |
| Ear10 |
A |
G |
14: 44,160,785 (GRCm39) |
L14P |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,529,529 (GRCm39) |
S294P |
probably benign |
Het |
| Erbb3 |
T |
C |
10: 128,405,237 (GRCm39) |
*1340W |
probably null |
Het |
| Fam217b |
A |
G |
2: 178,062,224 (GRCm39) |
T63A |
probably benign |
Het |
| Fig4 |
G |
A |
10: 41,108,160 (GRCm39) |
P680L |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm6882 |
T |
A |
7: 21,161,512 (GRCm39) |
I119F |
probably damaging |
Het |
| Hdac10 |
C |
A |
15: 89,008,736 (GRCm39) |
G442W |
probably damaging |
Het |
| Mc2r |
C |
T |
18: 68,540,494 (GRCm39) |
M266I |
possibly damaging |
Het |
| Mep1b |
A |
G |
18: 21,228,050 (GRCm39) |
Q551R |
probably benign |
Het |
| Mtrf1 |
T |
A |
14: 79,638,948 (GRCm39) |
C27S |
probably benign |
Het |
| Myo5c |
T |
A |
9: 75,176,864 (GRCm39) |
M603K |
probably benign |
Het |
| Nuf2 |
A |
G |
1: 169,326,407 (GRCm39) |
L448P |
possibly damaging |
Het |
| Or10a49 |
C |
T |
7: 108,468,006 (GRCm39) |
M118I |
possibly damaging |
Het |
| Or1e30 |
A |
T |
11: 73,678,654 (GRCm39) |
I297L |
probably benign |
Het |
| Or2b7 |
T |
C |
13: 21,739,343 (GRCm39) |
N283S |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,338,025 (GRCm39) |
M114K |
probably damaging |
Het |
| Ppp2r5c |
T |
C |
12: 110,534,261 (GRCm39) |
Y375H |
probably benign |
Het |
| Pstpip2 |
A |
G |
18: 77,965,325 (GRCm39) |
I317M |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,034,570 (GRCm39) |
T208A |
probably benign |
Het |
| Rab3gap1 |
C |
T |
1: 127,818,817 (GRCm39) |
H116Y |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,443,751 (GRCm38) |
D179V |
probably benign |
Het |
| Rasal1 |
G |
A |
5: 120,813,488 (GRCm39) |
A621T |
probably damaging |
Het |
| Rnf6 |
G |
A |
5: 146,147,717 (GRCm39) |
R434C |
probably damaging |
Het |
| Scn10a |
C |
A |
9: 119,464,568 (GRCm39) |
E1011* |
probably null |
Het |
| Sec24d |
C |
T |
3: 123,087,244 (GRCm39) |
Q137* |
probably null |
Het |
| Slc35g1 |
C |
A |
19: 38,391,642 (GRCm39) |
A308E |
probably damaging |
Het |
| Smtnl1 |
C |
A |
2: 84,649,089 (GRCm39) |
C55F |
possibly damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
A |
T |
9: 36,645,662 (GRCm39) |
D676E |
probably benign |
Het |
| Trabd2b |
A |
G |
4: 114,266,117 (GRCm39) |
T44A |
probably damaging |
Het |
| Trim12a |
T |
C |
7: 103,953,360 (GRCm39) |
|
probably benign |
Het |
| Tti1 |
A |
T |
2: 157,849,618 (GRCm39) |
D540E |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 88,987,691 (GRCm39) |
V1094A |
probably benign |
Het |
| Vmn1r34 |
A |
G |
6: 66,614,373 (GRCm39) |
Y122H |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp579 |
T |
A |
7: 4,997,257 (GRCm39) |
Q218L |
possibly damaging |
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 |
|
|
IGL00834:Sytl2
|
APN |
7 |
90,031,844 (GRCm39) |
intron |
probably benign |
|
|
IGL01833:Sytl2
|
APN |
7 |
90,045,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-05-07 |
Incidental Mutation