Incidental Mutation 'IGL00834:Sytl2'
ID 14335
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) question?
Stock # IGL00834
Quality Score
Status
Chromosome 7
Chromosomal Location 89951460-90059927 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 90031844 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000208486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207629
Predicted Effect probably benign
Transcript: ENSMUST00000208720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207064
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208809
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 A G 13: 4,562,664 (GRCm39) probably null Het
Alg5 T C 3: 54,652,140 (GRCm39) probably benign Het
App A T 16: 84,762,599 (GRCm39) F675I probably damaging Het
Atad1 C A 19: 32,675,968 (GRCm39) C152F probably benign Het
Atp2a3 A C 11: 72,873,613 (GRCm39) I829L probably damaging Het
B3galt1 C T 2: 67,949,050 (GRCm39) S255L probably damaging Het
Bptf A G 11: 106,964,754 (GRCm39) V1417A possibly damaging Het
Cast T A 13: 74,885,093 (GRCm39) T219S probably damaging Het
Cep95 A T 11: 106,709,043 (GRCm39) I705F probably damaging Het
Cnot3 C T 7: 3,653,854 (GRCm39) A2V probably damaging Het
Col1a1 A G 11: 94,840,204 (GRCm39) D1084G unknown Het
Col5a3 G A 9: 20,697,685 (GRCm39) Q873* probably null Het
Cubn C T 2: 13,386,738 (GRCm39) G1509D probably damaging Het
Defb10 T A 8: 22,351,952 (GRCm39) C66S possibly damaging Het
Dennd4b T C 3: 90,186,993 (GRCm39) probably null Het
Dido1 G A 2: 180,331,319 (GRCm39) T43M possibly damaging Het
Hmcn1 C T 1: 150,506,091 (GRCm39) V3812I probably benign Het
Islr2 T C 9: 58,107,069 (GRCm39) T64A probably benign Het
Kif2b A T 11: 91,467,206 (GRCm39) I359N probably damaging Het
Kit A C 5: 75,806,619 (GRCm39) N704T probably damaging Het
Ksr1 A G 11: 78,918,343 (GRCm39) F604L probably damaging Het
Lrp5 A T 19: 3,699,404 (GRCm39) F294I probably benign Het
Lrrn1 A G 6: 107,545,269 (GRCm39) T356A probably benign Het
Mrps17 G A 5: 129,793,829 (GRCm39) V8I probably benign Het
Nop56 T A 2: 130,117,915 (GRCm39) H130Q possibly damaging Het
Plg T A 17: 12,630,380 (GRCm39) L639Q probably damaging Het
Ppcdc A G 9: 57,322,423 (GRCm39) F159L probably benign Het
Ppp1ca A G 19: 4,244,519 (GRCm39) T193A probably benign Het
Prpf39 A G 12: 65,090,037 (GRCm39) D117G probably damaging Het
Ranbp2 C A 10: 58,289,145 (GRCm39) T51K possibly damaging Het
Tenm2 T A 11: 35,915,085 (GRCm39) I2150F probably damaging Het
Wdr11 T G 7: 129,194,817 (GRCm39) probably null Het
Other mutations in Sytl2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2012-12-06