Incidental Mutation 'IGL00584:Syt14'
ID 7292
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 # IGL00584
Quality Score
Status
Chromosome 1
Chromosomal Location 192573541-192718083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 192612792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 669 (N669K)
Ref Sequence ENSEMBL: ENSMUSP00000151129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016344] [ENSMUST00000195354] [ENSMUST00000195530] [ENSMUST00000215093]
AlphaFold Q7TN84
Predicted Effect probably benign
Transcript: ENSMUST00000016344
AA Change: N386K

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
AA Change: N386K

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: N386K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
AA Change: N386K

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 benign
Transcript: ENSMUST00000195530
SMART Domains Protein: ENSMUSP00000141563
Gene: ENSMUSG00000016200

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000215093
AA Change: N669K

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cep162 T C 9: 87,103,143 (GRCm39) probably benign Het
Ces4a G T 8: 105,871,795 (GRCm39) M288I probably benign Het
Dusp19 G A 2: 80,461,126 (GRCm39) probably null Het
Eif4g1 C A 16: 20,505,504 (GRCm39) probably benign Het
Farp1 T G 14: 121,474,561 (GRCm39) I258S probably damaging Het
Galnt18 T A 7: 111,071,202 (GRCm39) Q589L probably damaging Het
Gimap7 T A 6: 48,700,667 (GRCm39) C84* probably null Het
Il12rb2 T C 6: 67,334,676 (GRCm39) T168A probably damaging Het
Krba1 T C 6: 48,383,252 (GRCm39) L216S possibly damaging Het
Mki67 T C 7: 135,297,424 (GRCm39) K2537E probably damaging Het
Myo6 G T 9: 80,149,555 (GRCm39) probably benign Het
Nbea T A 3: 55,989,869 (GRCm39) N329I probably damaging Het
Ndufb11 T A X: 20,483,339 (GRCm39) Q54L possibly damaging Het
Nudt1 T C 5: 140,323,465 (GRCm39) F139S probably damaging Het
Rgn A T X: 20,423,756 (GRCm39) M118L probably benign Het
Syt12 C T 19: 4,497,873 (GRCm39) V370M probably damaging Het
Other mutations in Syt14
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20