Incidental Mutation 'R3788:Sytl2'
| ID |
473589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sytl2
|
| Ensembl Gene |
ENSMUSG00000030616 |
| Gene Name |
synaptotagmin-like 2 |
| Synonyms |
Slp2-a, Slp2-b, Slp2-d, Slp2-c, Slp2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R3788 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
90302252-90410719 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90376081 bp (GRCm38)
|
| 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: 122,052,912 (GRCm38) |
V26E |
possibly damaging |
Het |
| Abhd16a |
A |
G |
17: 35,101,587 (GRCm38) |
N411S |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,702,153 (GRCm38) |
|
probably null |
Het |
| Aph1b |
T |
C |
9: 66,794,066 (GRCm38) |
|
probably benign |
Het |
| Aspm |
C |
T |
1: 139,463,203 (GRCm38) |
T742I |
probably damaging |
Het |
| Bclaf3 |
A |
G |
X: 159,566,496 (GRCm38) |
H619R |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,288,297 (GRCm38) |
|
probably null |
Het |
| Cemip |
A |
T |
7: 83,943,898 (GRCm38) |
L1199H |
probably damaging |
Het |
| Chd2 |
G |
A |
7: 73,447,130 (GRCm38) |
|
probably benign |
Het |
| Clnk |
A |
G |
5: 38,714,998 (GRCm38) |
Y310H |
probably damaging |
Het |
| Crmp1 |
A |
G |
5: 37,284,140 (GRCm38) |
D522G |
probably damaging |
Het |
| Cyth3 |
A |
G |
5: 143,636,543 (GRCm38) |
|
probably benign |
Het |
| Dcbld1 |
T |
A |
10: 52,319,658 (GRCm38) |
Y392N |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,454,057 (GRCm38) |
F1820L |
probably damaging |
Het |
| Galnt18 |
G |
A |
7: 111,520,115 (GRCm38) |
R385* |
probably null |
Het |
| Gpatch3 |
C |
A |
4: 133,575,168 (GRCm38) |
R137S |
possibly damaging |
Het |
| Gpc6 |
C |
T |
14: 117,624,466 (GRCm38) |
P265S |
probably damaging |
Het |
| Harbi1 |
T |
A |
2: 91,720,607 (GRCm38) |
D308E |
probably benign |
Het |
| Hdhd2 |
G |
A |
18: 76,955,187 (GRCm38) |
|
probably null |
Het |
| Hk1 |
T |
C |
10: 62,275,688 (GRCm38) |
K737E |
possibly damaging |
Het |
| Hnrnpr |
G |
A |
4: 136,336,313 (GRCm38) |
V345M |
probably damaging |
Het |
| Ift56 |
T |
A |
6: 38,403,524 (GRCm38) |
|
probably null |
Het |
| Kalrn |
T |
C |
16: 34,220,240 (GRCm38) |
H944R |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,351,805 (GRCm38) |
C207S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 87,089,151 (GRCm38) |
M380I |
probably null |
Het |
| Krt75 |
C |
T |
15: 101,573,521 (GRCm38) |
G104D |
possibly damaging |
Het |
| Lnpk |
A |
T |
2: 74,522,263 (GRCm38) |
S358R |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,416,863 (GRCm38) |
T1512A |
probably damaging |
Het |
| Marchf10 |
T |
A |
11: 105,397,079 (GRCm38) |
L132F |
probably damaging |
Het |
| Mfrp |
G |
A |
9: 44,105,457 (GRCm38) |
W65* |
probably null |
Het |
| Mgat5 |
A |
G |
1: 127,366,443 (GRCm38) |
D174G |
probably benign |
Het |
| Miga2 |
T |
A |
2: 30,371,225 (GRCm38) |
Y177* |
probably null |
Het |
| Mroh3 |
T |
C |
1: 136,185,475 (GRCm38) |
D747G |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,863,834 (GRCm38) |
T3506A |
possibly damaging |
Het |
| Myo7b |
G |
T |
18: 31,974,112 (GRCm38) |
P1277T |
possibly damaging |
Het |
| Naaa |
C |
T |
5: 92,272,554 (GRCm38) |
|
probably null |
Het |
| Ndufs2 |
T |
C |
1: 171,235,320 (GRCm38) |
D410G |
possibly damaging |
Het |
| Or51a25 |
A |
G |
7: 102,723,487 (GRCm38) |
|
probably null |
Het |
| Or5p78 |
T |
A |
7: 108,613,073 (GRCm38) |
Y255* |
probably null |
Het |
| Or7e177 |
A |
G |
9: 20,300,370 (GRCm38) |
I58V |
probably benign |
Het |
| Or8g35 |
A |
G |
9: 39,470,069 (GRCm38) |
I219T |
probably benign |
Het |
| Osbp |
A |
T |
19: 11,978,921 (GRCm38) |
Y409F |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 109,109,287 (GRCm38) |
V1303D |
possibly damaging |
Het |
| Prkcg |
G |
A |
7: 3,313,747 (GRCm38) |
D246N |
probably damaging |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,219,203 (GRCm38) |
|
probably benign |
Het |
| Sbf1 |
G |
A |
15: 89,299,528 (GRCm38) |
R1261* |
probably null |
Het |
| Scn4a |
T |
C |
11: 106,344,274 (GRCm38) |
N341S |
probably damaging |
Het |
| Sec61a2 |
C |
A |
2: 5,879,625 (GRCm38) |
|
probably null |
Het |
| Sgcd |
T |
A |
11: 47,355,205 (GRCm38) |
K57* |
probably null |
Het |
| Sinhcaf |
A |
G |
6: 148,926,119 (GRCm38) |
S134P |
possibly damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,993,775 (GRCm38) |
L861P |
probably damaging |
Het |
| Slc6a16 |
A |
G |
7: 45,259,962 (GRCm38) |
D184G |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,838,990 (GRCm38) |
|
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,745,922 (GRCm38) |
I1710V |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,891,752 (GRCm38) |
|
probably benign |
Het |
| Tmem232 |
C |
A |
17: 65,382,633 (GRCm38) |
D496Y |
possibly damaging |
Het |
| Tomm20l |
C |
T |
12: 71,111,742 (GRCm38) |
A58V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,974,208 (GRCm38) |
V240A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,945,274 (GRCm38) |
E1854G |
unknown |
Het |
| Vmn2r98 |
A |
T |
17: 19,080,625 (GRCm38) |
T630S |
probably benign |
Het |
| Xrcc1 |
G |
C |
7: 24,566,908 (GRCm38) |
A220P |
probably benign |
Het |
|
| Other mutations in Sytl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Sytl2
|
APN |
7 |
90,372,905 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL00657:Sytl2
|
APN |
7 |
90,401,410 (GRCm38) |
missense |
probably benign |
0.40 |
|
IGL00788:Sytl2
|
APN |
7 |
90,382,698 (GRCm38) |
intron |
probably benign |
|
|
IGL00834:Sytl2
|
APN |
7 |
90,382,636 (GRCm38) |
intron |
probably benign |
|
|
IGL01833:Sytl2
|
APN |
7 |
90,396,537 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01866:Sytl2
|
APN |
7 |
90,381,839 (GRCm38) |
intron |
probably benign |
|
|
IGL02215:Sytl2
|
APN |
7 |
90,381,214 (GRCm38) |
intron |
probably benign |
|
|
IGL02934:Sytl2
|
APN |
7 |
90,375,992 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03095:Sytl2
|
APN |
7 |
90,392,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
finder
|
UTSW |
7 |
90,375,652 (GRCm38) |
missense |
probably damaging |
1.00 |
|
keeper
|
UTSW |
7 |
90,358,224 (GRCm38) |
nonsense |
probably null |
|
|
R0126:Sytl2
|
UTSW |
7 |
90,396,589 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0269:Sytl2
|
UTSW |
7 |
90,403,020 (GRCm38) |
splice site |
probably benign |
|
|
R0270:Sytl2
|
UTSW |
7 |
90,403,020 (GRCm38) |
splice site |
probably benign |
|
|
R0271:Sytl2
|
UTSW |
7 |
90,403,020 (GRCm38) |
splice site |
probably benign |
|
|
R0288:Sytl2
|
UTSW |
7 |
90,403,020 (GRCm38) |
splice site |
probably benign |
|
|
R0528:Sytl2
|
UTSW |
7 |
90,403,020 (GRCm38) |
splice site |
probably benign |
|
|
R0601:Sytl2
|
UTSW |
7 |
90,395,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0610:Sytl2
|
UTSW |
7 |
90,380,853 (GRCm38) |
intron |
probably benign |
|
|
R1634:Sytl2
|
UTSW |
7 |
90,395,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1777:Sytl2
|
UTSW |
7 |
90,403,052 (GRCm38) |
missense |
probably benign |
0.25 |
|
R2040:Sytl2
|
UTSW |
7 |
90,381,861 (GRCm38) |
intron |
probably benign |
|
|
R3843:Sytl2
|
UTSW |
7 |
90,360,159 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R3952:Sytl2
|
UTSW |
7 |
90,381,492 (GRCm38) |
intron |
probably benign |
|
|
R4082:Sytl2
|
UTSW |
7 |
90,408,427 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4600:Sytl2
|
UTSW |
7 |
90,375,769 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4651:Sytl2
|
UTSW |
7 |
90,375,425 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4724:Sytl2
|
UTSW |
7 |
90,348,792 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R4730:Sytl2
|
UTSW |
7 |
90,381,249 (GRCm38) |
intron |
probably benign |
|
|
R4870:Sytl2
|
UTSW |
7 |
90,388,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4959:Sytl2
|
UTSW |
7 |
90,376,037 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4995:Sytl2
|
UTSW |
7 |
90,382,257 (GRCm38) |
intron |
probably benign |
|
|
R5009:Sytl2
|
UTSW |
7 |
90,381,315 (GRCm38) |
intron |
probably benign |
|
|
R5096:Sytl2
|
UTSW |
7 |
90,376,082 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R5191:Sytl2
|
UTSW |
7 |
90,375,652 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5305:Sytl2
|
UTSW |
7 |
90,381,863 (GRCm38) |
intron |
probably benign |
|
|
R5538:Sytl2
|
UTSW |
7 |
90,388,906 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5792:Sytl2
|
UTSW |
7 |
90,375,689 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6378:Sytl2
|
UTSW |
7 |
90,358,224 (GRCm38) |
nonsense |
probably null |
|
|
R6982:Sytl2
|
UTSW |
7 |
90,396,564 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7456:Sytl2
|
UTSW |
7 |
90,348,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7600:Sytl2
|
UTSW |
7 |
90,376,144 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8127:Sytl2
|
UTSW |
7 |
90,375,590 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8171:Sytl2
|
UTSW |
7 |
90,409,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8225:Sytl2
|
UTSW |
7 |
90,375,517 (GRCm38) |
missense |
probably benign |
0.36 |
|
R8297:Sytl2
|
UTSW |
7 |
90,385,075 (GRCm38) |
missense |
probably benign |
|
|
R8843:Sytl2
|
UTSW |
7 |
90,376,126 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8929:Sytl2
|
UTSW |
7 |
90,375,602 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9027:Sytl2
|
UTSW |
7 |
90,379,540 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9222:Sytl2
|
UTSW |
7 |
90,401,425 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9246:Sytl2
|
UTSW |
7 |
90,358,176 (GRCm38) |
missense |
probably benign |
0.31 |
|
R9268:Sytl2
|
UTSW |
7 |
90,385,151 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9399:Sytl2
|
UTSW |
7 |
90,392,450 (GRCm38) |
missense |
probably benign |
0.23 |
|
R9480:Sytl2
|
UTSW |
7 |
90,371,510 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9573:Sytl2
|
UTSW |
7 |
90,408,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9583:Sytl2
|
UTSW |
7 |
90,375,592 (GRCm38) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation