Incidental Mutation 'R3032:Syt14'
ID 264745
Institutional Source Beutler Lab
Gene Symbol Syt14
Ensembl Gene ENSMUSG00000016200
Gene Name synaptotagmin XIV
Synonyms B230320I09Rik
MMRRC Submission 040548-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3032 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 192573541-192718083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 192669059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 65 (Y65N)
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: Y65N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
AA Change: Y65N

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 probably benign
Transcript: ENSMUST00000195354
AA Change: Y65N

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
AA Change: Y65N

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 possibly damaging
Transcript: ENSMUST00000195530
AA Change: Y65N

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141563
Gene: ENSMUSG00000016200
AA Change: Y65N

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215093
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A T 14: 8,253,466 (GRCm38) L227Q probably damaging Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dpysl4 A G 7: 138,676,152 (GRCm39) N315D probably benign Het
Eps8 A T 6: 137,489,175 (GRCm39) S408T probably damaging Het
F13b A C 1: 139,445,071 (GRCm39) T574P probably damaging Het
Fgfrl1 A G 5: 108,853,926 (GRCm39) I344M probably benign Het
Or5b21 G A 19: 12,839,282 (GRCm39) V48I probably benign Het
Park7 T C 4: 150,985,509 (GRCm39) K122R probably benign Het
Psg18 G A 7: 18,084,904 (GRCm39) S64L probably benign Het
Rhbdf1 T C 11: 32,159,985 (GRCm39) D172G probably damaging Het
Serpinb6b G A 13: 33,152,551 (GRCm39) G20D possibly damaging Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Tll1 T C 8: 64,551,526 (GRCm39) N285S probably damaging Het
Umodl1 G A 17: 31,208,502 (GRCm39) R849Q probably benign Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Other mutations in Syt14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00584:Syt14 APN 1 192,612,792 (GRCm39) missense possibly damaging 0.88
IGL01535:Syt14 APN 1 192,669,073 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGTAGCTTAACAATCTGTAGGCAAC -3'
(R):5'- CTGTCTAGCGTATACTGGGAAATTC -3'

Sequencing Primer
(F):5'- AGGAGACCTGAACATGATTATTTAAC -3'
(R):5'- ACTGGGAAATTCCTTCTTATTCTCAG -3'
Posted On 2015-02-05