Incidental Mutation 'R0598:Syt14'
ID 55158
Institutional Source Beutler Lab
Gene Symbol Syt14
Ensembl Gene ENSMUSG00000016200
Gene Name synaptotagmin XIV
Synonyms B230320I09Rik
MMRRC Submission 038787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0598 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 192573541-192718083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 192579622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 554 (E554G)
Ref Sequence ENSEMBL: ENSMUSP00000142190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016344] [ENSMUST00000195354] [ENSMUST00000195530] [ENSMUST00000215093]
AlphaFold Q7TN84
Predicted Effect probably damaging
Transcript: ENSMUST00000016344
AA Change: E573G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
AA Change: E573G

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: ENSMUST00000195354
AA Change: E554G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
AA Change: E554G

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 probably damaging
Transcript: ENSMUST00000215093
AA Change: E837G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,754,681 (GRCm39) E198D possibly damaging Het
Abca6 A T 11: 110,087,980 (GRCm39) I1049N probably damaging Het
Acly A T 11: 100,369,216 (GRCm39) N1014K probably damaging Het
Aoc1l1 A G 6: 48,952,471 (GRCm39) E132G probably benign Het
Aph1c A T 9: 66,740,601 (GRCm39) W42R probably damaging Het
Bptf G T 11: 106,963,791 (GRCm39) T1738K probably damaging Het
Cdhr2 A T 13: 54,874,552 (GRCm39) I875F probably damaging Het
Cpt2 G T 4: 107,764,135 (GRCm39) T543N probably damaging Het
Cstdc7 T A 18: 42,306,436 (GRCm39) M1K probably null Het
Dnah9 T C 11: 66,009,703 (GRCm39) E728G probably benign Het
Itgbl1 A G 14: 124,094,848 (GRCm39) H167R possibly damaging Het
Kctd1 A G 18: 15,140,822 (GRCm39) V40A probably damaging Het
L3mbtl4 T G 17: 68,766,768 (GRCm39) D158E probably benign Het
Lrp8 A C 4: 107,714,434 (GRCm39) I603L possibly damaging Het
Lypd8l G A 11: 58,499,230 (GRCm39) S196L probably benign Het
Mrps9 C T 1: 42,944,577 (GRCm39) T365I probably damaging Het
Or1a1 A T 11: 74,086,658 (GRCm39) T110S possibly damaging Het
Or1e1 G T 11: 73,244,729 (GRCm39) R50L probably benign Het
Or2y1d A G 11: 49,322,230 (GRCm39) D309G probably benign Het
Padi1 C A 4: 140,542,098 (GRCm39) R608L possibly damaging Het
Pkhd1 A T 1: 20,271,114 (GRCm39) F3146L probably damaging Het
Rnf145 T C 11: 44,439,770 (GRCm39) S189P probably damaging Het
Sez6 G T 11: 77,868,647 (GRCm39) D974Y possibly damaging Het
St3gal3 A T 4: 117,964,829 (GRCm39) L11Q probably benign Het
Tectb G T 19: 55,178,018 (GRCm39) E170* probably null Het
Themis2 A T 4: 132,516,994 (GRCm39) C169S possibly damaging Het
Tmem88b A T 4: 155,868,824 (GRCm39) D141E probably benign Het
Uaca T A 9: 60,778,203 (GRCm39) Y685* probably null Het
Vsnl1 T C 12: 11,436,860 (GRCm39) S40G probably benign Het
Vxn T G 1: 9,690,067 (GRCm39) I98S probably benign Het
Wdr64 A T 1: 175,633,465 (GRCm39) Q905H 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
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
Predicted Primers PCR Primer
(F):5'- GGCTGCTGAGCATTAAGGACACAAG -3'
(R):5'- AGCCAAATCCGGTGTACAAGGAAAC -3'

Sequencing Primer
(F):5'- AGGACACAAGTTTCTTGGTTTCTC -3'
(R):5'- CAAGTGGCCTTGTTTCAGC -3'
Posted On 2013-07-11