Incidental Mutation 'IGL02934:Sytl2'
| ID |
364222 |
| 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 # |
IGL02934
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
89951460-90059927 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90025200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 396
(V396A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107210]
[ENSMUST00000107211]
[ENSMUST00000190731]
[ENSMUST00000190837]
[ENSMUST00000207578]
[ENSMUST00000208720]
|
| AlphaFold |
Q99N50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107210
AA Change: V396A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: V396A
| 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
AA Change: V396A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: V396A
| 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 |
probably benign
Transcript: ENSMUST00000190731
AA Change: V396A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: V396A
| 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
AA Change: V369A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: V369A
| 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: ENSMUST00000207455
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207578
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208720
AA Change: V396A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 121,956,008 (GRCm39) |
R716* |
probably null |
Het |
| Abca8a |
A |
T |
11: 109,931,414 (GRCm39) |
N1246K |
probably damaging |
Het |
| Acadl |
A |
G |
1: 66,876,134 (GRCm39) |
Y396H |
probably benign |
Het |
| Apol7c |
A |
T |
15: 77,410,318 (GRCm39) |
S209R |
possibly damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,484,308 (GRCm39) |
C990* |
probably null |
Het |
| Cachd1 |
C |
T |
4: 100,825,295 (GRCm39) |
S583L |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 123,374,497 (GRCm39) |
T48A |
probably benign |
Het |
| Ccdc138 |
G |
T |
10: 58,409,402 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,970,112 (GRCm39) |
E2231G |
probably damaging |
Het |
| Cog3 |
T |
C |
14: 75,979,129 (GRCm39) |
I206V |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,836,633 (GRCm39) |
|
probably benign |
Het |
| Ctdspl2 |
T |
C |
2: 121,809,490 (GRCm39) |
V147A |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,148,845 (GRCm39) |
V300A |
probably damaging |
Het |
| Dkk3 |
A |
T |
7: 111,749,954 (GRCm39) |
M72K |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,900,944 (GRCm39) |
F340L |
probably benign |
Het |
| Fut1 |
A |
G |
7: 45,268,127 (GRCm39) |
H27R |
possibly damaging |
Het |
| Igkv4-80 |
A |
G |
6: 68,993,840 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv9-123 |
G |
A |
6: 67,931,380 (GRCm39) |
P62L |
possibly damaging |
Het |
| Kmt2e |
T |
C |
5: 23,702,882 (GRCm39) |
S1021P |
probably damaging |
Het |
| Krt13 |
A |
C |
11: 100,009,910 (GRCm39) |
L320R |
probably damaging |
Het |
| Ldhal6b |
T |
C |
17: 5,467,819 (GRCm39) |
T372A |
probably benign |
Het |
| Manba |
T |
C |
3: 135,250,510 (GRCm39) |
V379A |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,571,639 (GRCm39) |
V361I |
probably benign |
Het |
| Map4k1 |
A |
G |
7: 28,693,531 (GRCm39) |
S399G |
probably benign |
Het |
| Mff |
G |
A |
1: 82,724,815 (GRCm39) |
R229H |
probably damaging |
Het |
| Naga |
T |
C |
15: 82,214,401 (GRCm39) |
N370S |
possibly damaging |
Het |
| Ncor2 |
A |
T |
5: 125,102,621 (GRCm39) |
M2045K |
probably benign |
Het |
| Nipal1 |
T |
C |
5: 72,805,250 (GRCm39) |
L7P |
probably damaging |
Het |
| Or10p22 |
T |
A |
10: 128,825,958 (GRCm39) |
M59K |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,516,491 (GRCm39) |
M187K |
probably benign |
Het |
| Perp |
A |
T |
10: 18,731,520 (GRCm39) |
T160S |
probably damaging |
Het |
| Rapgef6 |
G |
A |
11: 54,516,690 (GRCm39) |
D169N |
probably damaging |
Het |
| Sel1l |
G |
A |
12: 91,776,710 (GRCm39) |
Q711* |
probably null |
Het |
| Septin5 |
T |
C |
16: 18,448,581 (GRCm39) |
Y7C |
probably damaging |
Het |
| Spdya |
A |
T |
17: 71,863,395 (GRCm39) |
N48I |
probably benign |
Het |
| Stard6 |
T |
A |
18: 70,629,175 (GRCm39) |
|
probably benign |
Het |
| Tcaf3 |
T |
G |
6: 42,570,832 (GRCm39) |
M307L |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,938,778 (GRCm39) |
N757D |
probably benign |
Het |
| Tgm1 |
T |
A |
14: 55,947,446 (GRCm39) |
D305V |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,516,862 (GRCm39) |
M213L |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,324,449 (GRCm39) |
V347A |
probably damaging |
Het |
| Tmem214 |
A |
G |
5: 31,028,888 (GRCm39) |
E159G |
probably benign |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Tshz1 |
A |
T |
18: 84,031,215 (GRCm39) |
S1064R |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,268,266 (GRCm39) |
E983K |
possibly damaging |
Het |
| Vmn1r23 |
A |
T |
6: 57,902,914 (GRCm39) |
I288N |
probably benign |
Het |
| Vmn2r97 |
T |
C |
17: 19,149,947 (GRCm39) |
V445A |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,334,342 (GRCm39) |
T813M |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,346,020 (GRCm39) |
H2754Y |
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 |
|
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 |
|
IGL01866:Sytl2
|
APN |
7 |
90,031,047 (GRCm39) |
intron |
probably benign |
|
|
IGL02215:Sytl2
|
APN |
7 |
90,030,422 (GRCm39) |
intron |
probably benign |
|
|
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 |
2015-12-18 |
Incidental Mutation