Incidental Mutation 'R6221:Syt14'
ID 503993
Institutional Source Beutler Lab
Gene Symbol Syt14
Ensembl Gene ENSMUSG00000016200
Gene Name synaptotagmin XIV
Synonyms B230320I09Rik
MMRRC Submission 044432-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6221 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 192573541-192718083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 192612908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 631 (Y631N)
Ref Sequence ENSEMBL: ENSMUSP00000151129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016344] [ENSMUST00000195354] [ENSMUST00000195530] [ENSMUST00000215093]
AlphaFold Q7TN84
Predicted Effect probably damaging
Transcript: ENSMUST00000016344
AA Change: Y348N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
AA Change: Y348N

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 damaging
Transcript: ENSMUST00000195354
AA Change: Y348N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
AA Change: Y348N

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: Y631N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9366 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 99% (66/67)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,824,874 (GRCm39) M108V probably benign Het
Adgrl1 C T 8: 84,664,316 (GRCm39) Q1236* probably null Het
Adprhl1 T C 8: 13,275,634 (GRCm39) I375V probably benign Het
Bsn A G 9: 107,982,765 (GRCm39) S3663P unknown Het
Cfap44 A T 16: 44,257,549 (GRCm39) Q1028L probably benign Het
Cftr A C 6: 18,282,500 (GRCm39) T1067P probably benign Het
Col1a2 T C 6: 4,539,490 (GRCm39) S1253P unknown Het
Dkk3 A G 7: 111,720,853 (GRCm39) Y158H probably damaging Het
Dmxl1 A G 18: 50,004,799 (GRCm39) Y949C probably damaging Het
E130311K13Rik T C 3: 63,823,152 (GRCm39) Y164C probably benign Het
Evx1 T A 6: 52,293,768 (GRCm39) V312E probably damaging Het
Fam240b T C 13: 64,629,591 (GRCm39) N75S probably benign Het
Fat2 A G 11: 55,186,898 (GRCm39) probably null Het
Fbn1 G T 2: 125,162,841 (GRCm39) D2148E probably benign Het
Fzd4 A G 7: 89,054,100 (GRCm39) H69R probably damaging Het
Fzd6 T C 15: 38,894,239 (GRCm39) V135A probably benign Het
Gimap8 T C 6: 48,635,876 (GRCm39) L547S probably damaging Het
Gnrhr G A 5: 86,333,262 (GRCm39) Q203* probably null Het
Gpaa1 T G 15: 76,218,032 (GRCm39) V341G probably benign Het
Grik3 T A 4: 125,598,916 (GRCm39) L828Q probably damaging Het
Heatr5b T C 17: 79,074,383 (GRCm39) N1568S probably benign Het
Hpf1 T A 8: 61,346,808 (GRCm39) V41E probably damaging Het
Hsd3b1 A T 3: 98,760,472 (GRCm39) M173K probably benign Het
Hsd3b6 A G 3: 98,713,849 (GRCm39) I150T probably benign Het
Ica1 C G 6: 8,644,181 (GRCm39) L369F possibly damaging Het
Inf2 T G 12: 112,570,179 (GRCm39) S293A possibly damaging Het
Klra10 T C 6: 130,246,235 (GRCm39) T247A probably benign Het
Kpna1 G A 16: 35,841,058 (GRCm39) G91D probably benign Het
Ldlrap1 C T 4: 134,484,671 (GRCm39) E108K probably damaging Het
Ltb4r2 C T 14: 55,999,540 (GRCm39) R54W probably damaging Het
Mki67 A G 7: 135,299,643 (GRCm39) F1797S probably benign Het
Mlh3 C A 12: 85,315,192 (GRCm39) Q331H possibly damaging Het
Nol11 G T 11: 107,062,442 (GRCm39) T598K possibly damaging Het
Odad1 T C 7: 45,596,903 (GRCm39) L410P probably damaging Het
Or5b124 T A 19: 13,610,830 (GRCm39) Y118* probably null Het
Oxct2b T C 4: 123,010,601 (GRCm39) Y174H probably damaging Het
Pakap C T 4: 57,855,618 (GRCm39) Q559* probably null Het
Pclo G A 5: 14,725,327 (GRCm39) R1395Q unknown Het
Ppara A G 15: 85,661,881 (GRCm39) I41V probably benign Het
Ppip5k2 A T 1: 97,657,753 (GRCm39) I766K probably damaging Het
Ppm1j A G 3: 104,693,092 (GRCm39) N483S possibly damaging Het
Prex2 T C 1: 11,336,236 (GRCm39) I1478T probably benign Het
Ror2 T C 13: 53,267,253 (GRCm39) Y394C probably damaging Het
Rsl1d1 A G 16: 11,019,175 (GRCm39) V121A probably damaging Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Slc15a1 T C 14: 121,702,316 (GRCm39) Q610R probably null Het
Slc1a6 A G 10: 78,635,910 (GRCm39) E325G probably damaging Het
Slc7a13 A G 4: 19,839,305 (GRCm39) I303V probably benign Het
Smc3 T A 19: 53,630,362 (GRCm39) V1123E probably damaging Het
Smco1 G A 16: 32,092,023 (GRCm39) V34I probably benign Het
Spag1 A G 15: 36,197,949 (GRCm39) R304G probably benign Het
Spata31f1e A T 4: 42,793,153 (GRCm39) N326K probably benign Het
Spta1 A G 1: 174,009,342 (GRCm39) D293G probably damaging Het
Sspo C A 6: 48,440,639 (GRCm39) P1751Q probably damaging Het
Taar3 A G 10: 23,825,970 (GRCm39) N172S possibly damaging Het
Tank A G 2: 61,480,427 (GRCm39) E321G probably damaging Het
Tcstv5 T G 13: 120,411,534 (GRCm39) H24P probably damaging Het
Thbs1 C A 2: 117,950,478 (GRCm39) L704M probably damaging Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Togaram1 A T 12: 65,013,320 (GRCm39) E190D probably damaging Het
Traf1 A C 2: 34,838,313 (GRCm39) V175G probably benign Het
Trib3 A T 2: 152,180,528 (GRCm39) C222S probably damaging Het
Tsen34 T A 7: 3,698,543 (GRCm39) I229N probably damaging Het
Ttc28 A G 5: 111,419,114 (GRCm39) D1370G probably benign Het
Ugt1a5 G A 1: 88,093,964 (GRCm39) R64H probably benign Het
Vdac2 G A 14: 21,895,246 (GRCm39) G265R possibly damaging Het
Vdac3 A G 8: 23,078,759 (GRCm39) V17A possibly damaging Het
Yif1b C T 7: 28,945,207 (GRCm39) T220I possibly damaging Het
Zfp846 T G 9: 20,504,591 (GRCm39) H150Q possibly damaging Het
Zwilch A T 9: 64,068,665 (GRCm39) H181Q 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
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
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'- TGGGGTTGATCATAGACTCCTC -3'
(R):5'- GCTGTCACAGACATTCCAAC -3'

Sequencing Primer
(F):5'- GATCATAGACTCCTCCTGTAGCATG -3'
(R):5'- TTCCAACATATAACAGGACAGGTG -3'
Posted On 2018-02-28