Incidental Mutation 'R3788:Sytl2'
ID |
473589 |
Institutional Source |
Beutler Lab
|
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 # |
R3788 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
89951460-90059927 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90025289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 426
(I426F)
|
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: I426F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102828 Gene: ENSMUSG00000030616 AA Change: I426F
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: I426F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102829 Gene: ENSMUSG00000030616 AA Change: I426F
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: I426F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139865 Gene: ENSMUSG00000030616 AA Change: I426F
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: I399F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000139450 Gene: ENSMUSG00000030616 AA Change: I399F
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: I426F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (61/61) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,846,561 (GRCm39) |
V26E |
possibly damaging |
Het |
Abhd16a |
A |
G |
17: 35,320,563 (GRCm39) |
N411S |
probably damaging |
Het |
Akap13 |
G |
A |
7: 75,351,901 (GRCm39) |
|
probably null |
Het |
Aph1b |
T |
C |
9: 66,701,348 (GRCm39) |
|
probably benign |
Het |
Aspm |
C |
T |
1: 139,390,941 (GRCm39) |
T742I |
probably damaging |
Het |
Bclaf3 |
A |
G |
X: 158,349,492 (GRCm39) |
H619R |
probably benign |
Het |
Bltp2 |
T |
A |
11: 78,179,123 (GRCm39) |
|
probably null |
Het |
Cemip |
A |
T |
7: 83,593,106 (GRCm39) |
L1199H |
probably damaging |
Het |
Chd2 |
G |
A |
7: 73,096,878 (GRCm39) |
|
probably benign |
Het |
Clnk |
A |
G |
5: 38,872,341 (GRCm39) |
Y310H |
probably damaging |
Het |
Crmp1 |
A |
G |
5: 37,441,484 (GRCm39) |
D522G |
probably damaging |
Het |
Cyth3 |
A |
G |
5: 143,622,298 (GRCm39) |
|
probably benign |
Het |
Dcbld1 |
T |
A |
10: 52,195,754 (GRCm39) |
Y392N |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,454,056 (GRCm39) |
F1820L |
probably damaging |
Het |
Galnt18 |
G |
A |
7: 111,119,322 (GRCm39) |
R385* |
probably null |
Het |
Gpatch3 |
C |
A |
4: 133,302,479 (GRCm39) |
R137S |
possibly damaging |
Het |
Gpc6 |
C |
T |
14: 117,861,878 (GRCm39) |
P265S |
probably damaging |
Het |
Harbi1 |
T |
A |
2: 91,550,952 (GRCm39) |
D308E |
probably benign |
Het |
Hdhd2 |
G |
A |
18: 77,042,883 (GRCm39) |
|
probably null |
Het |
Hk1 |
T |
C |
10: 62,111,467 (GRCm39) |
K737E |
possibly damaging |
Het |
Hnrnpr |
G |
A |
4: 136,063,624 (GRCm39) |
V345M |
probably damaging |
Het |
Ift56 |
T |
A |
6: 38,380,459 (GRCm39) |
|
probably null |
Het |
Kalrn |
T |
C |
16: 34,040,610 (GRCm39) |
H944R |
probably damaging |
Het |
Kdm2a |
A |
T |
19: 4,401,833 (GRCm39) |
C207S |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt75 |
C |
T |
15: 101,481,956 (GRCm39) |
G104D |
possibly damaging |
Het |
Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
Map2 |
A |
G |
1: 66,456,022 (GRCm39) |
T1512A |
probably damaging |
Het |
Marchf10 |
T |
A |
11: 105,287,905 (GRCm39) |
L132F |
probably damaging |
Het |
Mfrp |
G |
A |
9: 44,016,754 (GRCm39) |
W65* |
probably null |
Het |
Mgat5 |
A |
G |
1: 127,294,180 (GRCm39) |
D174G |
probably benign |
Het |
Miga2 |
T |
A |
2: 30,261,237 (GRCm39) |
Y177* |
probably null |
Het |
Mroh3 |
T |
C |
1: 136,113,213 (GRCm39) |
D747G |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,417,571 (GRCm39) |
T3506A |
possibly damaging |
Het |
Myo7b |
G |
T |
18: 32,107,165 (GRCm39) |
P1277T |
possibly damaging |
Het |
Naaa |
C |
T |
5: 92,420,413 (GRCm39) |
|
probably null |
Het |
Ndufs2 |
T |
C |
1: 171,062,889 (GRCm39) |
D410G |
possibly damaging |
Het |
Or51a25 |
A |
G |
7: 102,372,694 (GRCm39) |
|
probably null |
Het |
Or5p78 |
T |
A |
7: 108,212,280 (GRCm39) |
Y255* |
probably null |
Het |
Or7e177 |
A |
G |
9: 20,211,666 (GRCm39) |
I58V |
probably benign |
Het |
Or8g35 |
A |
G |
9: 39,381,365 (GRCm39) |
I219T |
probably benign |
Het |
Osbp |
A |
T |
19: 11,956,285 (GRCm39) |
Y409F |
probably benign |
Het |
Plxnb1 |
T |
A |
9: 108,938,355 (GRCm39) |
V1303D |
possibly damaging |
Het |
Prkcg |
G |
A |
7: 3,362,263 (GRCm39) |
D246N |
probably damaging |
Het |
Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
Sbf1 |
G |
A |
15: 89,183,731 (GRCm39) |
R1261* |
probably null |
Het |
Scn4a |
T |
C |
11: 106,235,100 (GRCm39) |
N341S |
probably damaging |
Het |
Sec61a2 |
C |
A |
2: 5,884,436 (GRCm39) |
|
probably null |
Het |
Sgcd |
T |
A |
11: 47,246,032 (GRCm39) |
K57* |
probably null |
Het |
Sinhcaf |
A |
G |
6: 148,827,617 (GRCm39) |
S134P |
possibly damaging |
Het |
Slc12a5 |
T |
C |
2: 164,835,695 (GRCm39) |
L861P |
probably damaging |
Het |
Slc6a16 |
A |
G |
7: 44,909,386 (GRCm39) |
D184G |
probably benign |
Het |
Snx7 |
A |
G |
3: 117,632,639 (GRCm39) |
|
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,795,950 (GRCm39) |
I1710V |
probably damaging |
Het |
Tdp1 |
A |
G |
12: 99,858,011 (GRCm39) |
|
probably benign |
Het |
Tmem232 |
C |
A |
17: 65,689,628 (GRCm39) |
D496Y |
possibly damaging |
Het |
Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,775,618 (GRCm39) |
E1854G |
unknown |
Het |
Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
Vmn2r98 |
A |
T |
17: 19,300,887 (GRCm39) |
T630S |
probably benign |
Het |
Xrcc1 |
G |
C |
7: 24,266,333 (GRCm39) |
A220P |
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 |
|
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 |
|
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 |
|
Predicted Primers |
|
Posted On |
2017-04-14 |