Incidental Mutation 'IGL01535:Syt14'
ID 89932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt14
Ensembl Gene ENSMUSG00000016200
Gene Name synaptotagmin XIV
Synonyms B230320I09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01535
Quality Score
Status
Chromosome 1
Chromosomal Location 192573541-192718083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 192669073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 60 (D60A)
Ref Sequence ENSEMBL: ENSMUSP00000141563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016344] [ENSMUST00000195354] [ENSMUST00000195530] [ENSMUST00000215093]
AlphaFold Q7TN84
Predicted Effect probably benign
Transcript: ENSMUST00000016344
AA Change: D60A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
AA Change: D60A

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
low complexity region 81 94 N/A INTRINSIC
C2 276 378 1.41e0 SMART
C2 431 547 1.38e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191907
Predicted Effect possibly damaging
Transcript: ENSMUST00000195354
AA Change: D60A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
AA Change: D60A

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
low complexity region 81 94 N/A INTRINSIC
C2 276 378 1.41e0 SMART
C2 431 547 1.38e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000195530
AA Change: D60A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141563
Gene: ENSMUSG00000016200
AA Change: D60A

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215093
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the synaptotagmin family. The encoded protein may be involved in membrane trafficking. Disruption of a similar gene in human has been associated with autosomal recessive spinocerebellar ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,101,891 (GRCm39) S654T probably benign Het
Brd10 T C 19: 29,731,212 (GRCm39) H600R possibly damaging Het
Cacnb3 A T 15: 98,537,469 (GRCm39) Q49L probably benign Het
Dapk1 A G 13: 60,878,845 (GRCm39) probably benign Het
Dop1b T A 16: 93,566,846 (GRCm39) L1091* probably null Het
Epb42 A G 2: 120,858,169 (GRCm39) V263A probably damaging Het
Fig4 T G 10: 41,132,490 (GRCm39) S439R probably benign Het
Gatc A T 5: 115,479,048 (GRCm39) V54E possibly damaging Het
Hook2 T C 8: 85,729,618 (GRCm39) L686P probably benign Het
Med12l A T 3: 59,169,680 (GRCm39) T1615S probably damaging Het
Msr1 C T 8: 40,064,714 (GRCm39) G320D probably benign Het
Nbeal1 T A 1: 60,256,414 (GRCm39) F220I probably damaging Het
Or14j2 T A 17: 37,885,679 (GRCm39) I212F possibly damaging Het
Or2l5 G A 16: 19,334,228 (GRCm39) H53Y probably benign Het
Pcdh10 A T 3: 45,334,078 (GRCm39) I131F probably damaging Het
Phlpp2 A G 8: 110,660,697 (GRCm39) E784G possibly damaging Het
Prr36 A T 8: 4,264,043 (GRCm39) probably benign Het
Ptprq G A 10: 107,535,457 (GRCm39) S436L probably benign Het
Rock1 T A 18: 10,132,119 (GRCm39) probably benign Het
Sash1 T G 10: 8,617,341 (GRCm39) T522P probably damaging Het
Serpinb2 T C 1: 107,447,503 (GRCm39) probably null Het
Supt16 T C 14: 52,414,647 (GRCm39) K422E probably damaging Het
Tbc1d2b A C 9: 90,097,526 (GRCm39) probably benign Het
Thsd7b T C 1: 129,605,954 (GRCm39) I565T possibly damaging Het
Ttn A G 2: 76,564,536 (GRCm39) Y28534H probably damaging Het
Vmn1r177 T A 7: 23,565,765 (GRCm39) H37L probably damaging Het
Vps13b A T 15: 35,455,103 (GRCm39) N671Y possibly damaging Het
Other mutations in Syt14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00584:Syt14 APN 1 192,612,792 (GRCm39) missense possibly damaging 0.88
IGL01935:Syt14 APN 1 192,615,679 (GRCm39) missense probably damaging 0.99
IGL02531:Syt14 APN 1 192,584,242 (GRCm39) makesense probably null
IGL02716:Syt14 APN 1 192,662,843 (GRCm39) missense possibly damaging 0.92
IGL03051:Syt14 APN 1 192,615,528 (GRCm39) missense probably benign 0.19
IGL03268:Syt14 APN 1 192,669,142 (GRCm39) missense probably benign 0.25
crumpled UTSW 1 192,584,177 (GRCm39) missense possibly damaging 0.82
R0542:Syt14 UTSW 1 192,613,111 (GRCm39) missense probably damaging 1.00
R0598:Syt14 UTSW 1 192,579,622 (GRCm39) missense probably damaging 1.00
R1533:Syt14 UTSW 1 192,613,084 (GRCm39) missense possibly damaging 0.94
R1675:Syt14 UTSW 1 192,579,790 (GRCm39) missense probably damaging 1.00
R1907:Syt14 UTSW 1 192,584,143 (GRCm39) missense probably damaging 1.00
R3032:Syt14 UTSW 1 192,669,059 (GRCm39) missense possibly damaging 0.86
R3828:Syt14 UTSW 1 192,584,083 (GRCm39) missense probably damaging 1.00
R3965:Syt14 UTSW 1 192,584,175 (GRCm39) missense probably benign 0.04
R4646:Syt14 UTSW 1 192,615,633 (GRCm39) missense probably damaging 1.00
R4730:Syt14 UTSW 1 192,613,094 (GRCm39) missense probably damaging 1.00
R4909:Syt14 UTSW 1 192,581,167 (GRCm39) missense probably damaging 1.00
R4970:Syt14 UTSW 1 192,613,285 (GRCm39) intron probably benign
R5039:Syt14 UTSW 1 192,709,292 (GRCm39) missense probably damaging 1.00
R5363:Syt14 UTSW 1 192,612,971 (GRCm39) missense possibly damaging 0.94
R5593:Syt14 UTSW 1 192,613,231 (GRCm39) missense probably damaging 1.00
R5980:Syt14 UTSW 1 192,662,716 (GRCm39) missense possibly damaging 0.89
R6014:Syt14 UTSW 1 192,613,003 (GRCm39) missense probably damaging 0.99
R6221:Syt14 UTSW 1 192,612,908 (GRCm39) missense probably damaging 1.00
R6547:Syt14 UTSW 1 192,584,177 (GRCm39) missense possibly damaging 0.82
R6804:Syt14 UTSW 1 192,584,161 (GRCm39) missense probably damaging 1.00
R7038:Syt14 UTSW 1 192,665,966 (GRCm39) intron probably benign
R7179:Syt14 UTSW 1 192,615,571 (GRCm39) missense probably damaging 1.00
R7196:Syt14 UTSW 1 192,717,936 (GRCm39) missense probably benign 0.01
R7311:Syt14 UTSW 1 192,662,858 (GRCm39) missense probably benign
R7577:Syt14 UTSW 1 192,665,885 (GRCm39) missense unknown
R7769:Syt14 UTSW 1 192,666,632 (GRCm39) missense unknown
R7779:Syt14 UTSW 1 192,666,751 (GRCm39) missense unknown
R8213:Syt14 UTSW 1 192,669,137 (GRCm39) missense probably benign 0.00
R8888:Syt14 UTSW 1 192,579,866 (GRCm39) missense probably damaging 1.00
R8939:Syt14 UTSW 1 192,612,896 (GRCm39) missense probably damaging 1.00
R8960:Syt14 UTSW 1 192,666,515 (GRCm39) intron probably benign
R9109:Syt14 UTSW 1 192,612,944 (GRCm39) nonsense probably null
R9117:Syt14 UTSW 1 192,666,126 (GRCm39) missense unknown
R9127:Syt14 UTSW 1 192,584,131 (GRCm39) missense probably damaging 0.98
R9213:Syt14 UTSW 1 192,612,814 (GRCm39) missense probably damaging 0.97
R9298:Syt14 UTSW 1 192,612,944 (GRCm39) nonsense probably null
R9741:Syt14 UTSW 1 192,666,449 (GRCm39) missense unknown
Z1176:Syt14 UTSW 1 192,615,506 (GRCm39) missense probably damaging 0.98
Posted On 2013-12-03