Incidental Mutation 'R5009:Sytl2'
| ID |
390349 |
| 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 |
| MMRRC Submission |
042600-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R5009 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
89951460-90059927 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 90030523 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 |
noncoding transcript
Transcript: ENSMUST00000207629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207455
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208720
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
100% (91/91) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg2a |
T |
A |
3: 37,487,426 (GRCm39) |
|
probably benign |
Het |
| Aim2 |
T |
C |
1: 173,282,932 (GRCm39) |
Y5H |
probably damaging |
Het |
| Atosa |
G |
A |
9: 74,916,171 (GRCm39) |
E257K |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,517,714 (GRCm39) |
S375P |
possibly damaging |
Het |
| BC106179 |
C |
A |
16: 23,043,192 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
A |
1: 146,776,787 (GRCm39) |
N411K |
probably benign |
Het |
| Cacna1d |
A |
G |
14: 29,801,289 (GRCm39) |
V1386A |
probably damaging |
Het |
| Cuzd1 |
T |
A |
7: 130,913,252 (GRCm39) |
Y455F |
probably damaging |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,093,665 (GRCm39) |
|
probably null |
Het |
| Dot1l |
G |
T |
10: 80,607,030 (GRCm39) |
R108L |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,128,968 (GRCm39) |
S1413P |
probably damaging |
Het |
| Eea1 |
C |
A |
10: 95,846,883 (GRCm39) |
R388S |
probably benign |
Het |
| Elavl1 |
C |
T |
8: 4,351,723 (GRCm39) |
R131Q |
probably benign |
Het |
| Erich6b |
A |
G |
14: 75,902,596 (GRCm39) |
T138A |
possibly damaging |
Het |
| Esr1 |
C |
T |
10: 4,662,394 (GRCm39) |
T4I |
probably damaging |
Het |
| Ets1 |
T |
C |
9: 32,644,295 (GRCm39) |
S152P |
possibly damaging |
Het |
| Fcsk |
C |
T |
8: 111,614,462 (GRCm39) |
C609Y |
probably damaging |
Het |
| Flrt2 |
T |
C |
12: 95,746,547 (GRCm39) |
V295A |
probably damaging |
Het |
| Gm13196 |
A |
G |
2: 4,705,149 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5965 |
T |
A |
16: 88,575,312 (GRCm39) |
Y162N |
probably benign |
Het |
| Gm7853 |
A |
T |
14: 35,811,466 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8126 |
C |
T |
14: 43,119,065 (GRCm39) |
A178V |
probably benign |
Het |
| Gpihbp1 |
A |
T |
15: 75,469,570 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,774,858 (GRCm39) |
T180A |
possibly damaging |
Het |
| Gsdme |
C |
T |
6: 50,222,992 (GRCm39) |
V108M |
possibly damaging |
Het |
| Gtpbp4 |
T |
C |
13: 9,039,102 (GRCm39) |
Y157C |
probably benign |
Het |
| Gvin3 |
A |
G |
7: 106,200,767 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep1 |
T |
A |
13: 42,312,229 (GRCm39) |
F1490I |
probably benign |
Het |
| Il17ra |
T |
C |
6: 120,459,168 (GRCm39) |
V773A |
probably benign |
Het |
| Kctd8 |
T |
A |
5: 69,268,076 (GRCm39) |
T345S |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,957,763 (GRCm39) |
S1243P |
probably benign |
Het |
| Klhdc1 |
T |
C |
12: 69,298,712 (GRCm39) |
V99A |
possibly damaging |
Het |
| Lars1 |
T |
G |
18: 42,354,612 (GRCm39) |
E778D |
probably benign |
Het |
| Map7 |
C |
T |
10: 20,137,664 (GRCm39) |
R279* |
probably null |
Het |
| Mdp1 |
C |
T |
14: 55,896,683 (GRCm39) |
R126Q |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,466,583 (GRCm39) |
D532G |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,719,877 (GRCm39) |
V597I |
probably benign |
Het |
| Necab1 |
A |
G |
4: 14,947,503 (GRCm39) |
|
probably benign |
Het |
| Nisch |
C |
T |
14: 30,909,186 (GRCm39) |
|
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,013,531 (GRCm39) |
D573G |
probably benign |
Het |
| Noct |
C |
A |
3: 51,155,482 (GRCm39) |
N83K |
probably damaging |
Het |
| Or10am5 |
A |
G |
7: 6,517,546 (GRCm39) |
L294P |
probably damaging |
Het |
| Or1b1 |
C |
T |
2: 36,995,467 (GRCm39) |
R65H |
possibly damaging |
Het |
| Or2a12 |
C |
A |
6: 42,904,367 (GRCm39) |
D67E |
probably damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,326,435 (GRCm39) |
N264S |
probably benign |
Het |
| Or52n4b |
A |
G |
7: 108,144,055 (GRCm39) |
I106V |
probably benign |
Het |
| Or6b13 |
C |
T |
7: 139,781,751 (GRCm39) |
A311T |
probably benign |
Het |
| Or6c201 |
T |
C |
10: 128,969,484 (GRCm39) |
H51R |
probably benign |
Het |
| Osgepl1 |
T |
A |
1: 53,357,339 (GRCm39) |
V167D |
probably damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,887,489 (GRCm39) |
E354G |
probably damaging |
Het |
| Pgghg |
A |
C |
7: 140,523,303 (GRCm39) |
D194A |
probably benign |
Het |
| Podnl1 |
A |
T |
8: 84,852,887 (GRCm39) |
H19L |
probably benign |
Het |
| Pold1 |
G |
T |
7: 44,183,326 (GRCm39) |
A977E |
probably benign |
Het |
| Poldip3 |
T |
C |
15: 83,017,395 (GRCm39) |
T227A |
probably damaging |
Het |
| Prss43 |
A |
G |
9: 110,656,489 (GRCm39) |
S59G |
possibly damaging |
Het |
| Ptpn14 |
T |
A |
1: 189,582,731 (GRCm39) |
I526N |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,184,032 (GRCm39) |
S1615P |
possibly damaging |
Het |
| Ptpro |
A |
G |
6: 137,354,130 (GRCm39) |
K169E |
probably damaging |
Het |
| Rab15 |
T |
C |
12: 76,847,341 (GRCm39) |
E114G |
probably damaging |
Het |
| Rcvrn |
A |
G |
11: 67,586,550 (GRCm39) |
E103G |
probably benign |
Het |
| Repin1 |
T |
A |
6: 48,571,779 (GRCm39) |
|
probably benign |
Het |
| Rita1 |
T |
A |
5: 120,749,448 (GRCm39) |
K88N |
probably damaging |
Het |
| Rtkn2 |
T |
C |
10: 67,877,239 (GRCm39) |
V433A |
probably benign |
Het |
| Runx1t1 |
T |
C |
4: 13,865,231 (GRCm39) |
I314T |
possibly damaging |
Het |
| Serpinb9c |
A |
C |
13: 33,338,414 (GRCm39) |
S190A |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,623,916 (GRCm39) |
H300Q |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,297,157 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
T |
C |
10: 88,745,516 (GRCm39) |
S375P |
probably benign |
Het |
| Spns3 |
C |
A |
11: 72,428,027 (GRCm39) |
W251L |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,067,789 (GRCm39) |
N2072S |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,074,016 (GRCm39) |
V1351A |
probably benign |
Het |
| Tax1bp1 |
A |
G |
6: 52,706,478 (GRCm39) |
|
probably benign |
Het |
| Tg |
A |
G |
15: 66,568,435 (GRCm39) |
D1374G |
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,083,567 (GRCm39) |
S337P |
probably damaging |
Het |
| Trp63 |
A |
T |
16: 25,686,977 (GRCm39) |
D303V |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,683,250 (GRCm39) |
|
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,712,160 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
T |
G |
7: 86,451,015 (GRCm39) |
D300E |
possibly damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,365 (GRCm39) |
N621K |
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 |
|
|
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 |
|
|
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 |
PCR Primer
(F):5'- GGCAGGGAAATGTTATAGCTGC -3'
(R):5'- AGGAGTTTGTCTACACTACAGTCC -3'
Sequencing Primer
(F):5'- TGTTATAGCTGCAGAAGAGATGG -3'
(R):5'- TCCCTGAGCCCTGTGAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation