Incidental Mutation 'R4416:Vti1a'
ID 326859
Institutional Source Beutler Lab
Gene Symbol Vti1a
Ensembl Gene ENSMUSG00000024983
Gene Name vesicle transport through interaction with t-SNAREs 1A
Synonyms 4921537J05Rik, Vti1-rp2, 1110014F16Rik, 1110018K19Rik
MMRRC Submission 041137-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4416 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 55304727-55615741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 55369380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 91 (S91A)
Ref Sequence ENSEMBL: ENSMUSP00000153629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095950] [ENSMUST00000223690] [ENSMUST00000225529]
AlphaFold O89116
Predicted Effect probably benign
Transcript: ENSMUST00000095950
AA Change: S91A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000093644
Gene: ENSMUSG00000024983
AA Change: S91A

DomainStartEndE-ValueType
Pfam:V-SNARE 12 90 7.3e-29 PFAM
t_SNARE 117 184 4.61e-10 SMART
low complexity region 193 211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223690
AA Change: S91A

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225392
Predicted Effect probably benign
Transcript: ENSMUST00000225529
AA Change: S91A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T A 15: 59,888,272 (GRCm39) E56V possibly damaging Het
Adam28 A G 14: 68,859,531 (GRCm39) probably null Het
Bnc1 G T 7: 81,618,708 (GRCm39) H786N probably benign Het
Cav1 T A 6: 17,339,248 (GRCm39) M100K probably benign Het
Cdk9 A G 2: 32,598,084 (GRCm39) L273P probably damaging Het
Celsr1 A G 15: 85,812,200 (GRCm39) V2065A probably damaging Het
Cyp2c54 T C 19: 40,026,703 (GRCm39) Q484R probably benign Het
Elfn1 T C 5: 139,957,949 (GRCm39) S318P possibly damaging Het
Fbxl6 T C 15: 76,421,924 (GRCm39) E205G possibly damaging Het
Fhip2a G T 19: 57,373,829 (GRCm39) probably null Het
Frmd6 T A 12: 70,924,023 (GRCm39) Y94N probably benign Het
Gdpd1 A T 11: 86,926,114 (GRCm39) V277D probably benign Het
Grik1 C A 16: 87,848,349 (GRCm39) V140L probably benign Het
Grpel1 A G 5: 36,628,616 (GRCm39) H175R probably damaging Het
Gtdc1 G T 2: 44,465,602 (GRCm39) probably null Het
Hivep2 A T 10: 14,004,914 (GRCm39) Q504L probably benign Het
Icos A T 1: 61,033,849 (GRCm39) I160L probably benign Het
Igsf9b G T 9: 27,234,213 (GRCm39) C442F probably damaging Het
Itga10 T C 3: 96,565,562 (GRCm39) V1062A possibly damaging Het
Lrp1b C T 2: 40,553,679 (GRCm39) V386I unknown Het
Lrp2 G T 2: 69,357,575 (GRCm39) F409L probably benign Het
Nadk T G 4: 155,672,183 (GRCm39) Y291* probably null Het
Nudt6 A T 3: 37,459,378 (GRCm39) probably null Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or2ag1b G A 7: 106,288,218 (GRCm39) T240I probably benign Het
Or6c70 T C 10: 129,709,826 (GRCm39) T267A probably benign Het
Or8d6 A G 9: 39,853,724 (GRCm39) H56R probably damaging Het
Pasd1 G A X: 70,983,225 (GRCm39) C399Y possibly damaging Het
Pds5b C T 5: 150,659,861 (GRCm39) P275S probably damaging Het
Pdzd7 T A 19: 45,029,019 (GRCm39) E117V probably damaging Het
Pik3ca T C 3: 32,515,679 (GRCm39) V784A probably damaging Het
Polr3e T C 7: 120,538,280 (GRCm39) probably null Het
Rab3gap2 A T 1: 185,014,544 (GRCm39) D1231V probably benign Het
Rapgef2 C A 3: 78,976,364 (GRCm39) G1481* probably null Het
Rho G A 6: 115,912,191 (GRCm39) V76I probably benign Het
Rrm1 A G 7: 102,097,008 (GRCm39) D96G probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Srp9 A T 1: 181,958,976 (GRCm39) M50L probably benign Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Sult1d1 A G 5: 87,706,435 (GRCm39) F169S probably damaging Het
Tmem63c C G 12: 87,128,676 (GRCm39) T567R probably benign Het
Tmf1 G T 6: 97,155,949 (GRCm39) F12L probably damaging Het
Ush2a T C 1: 188,089,071 (GRCm39) I342T probably damaging Het
Veph1 A T 3: 65,968,606 (GRCm39) N712K probably damaging Het
Other mutations in Vti1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03130:Vti1a APN 19 55,380,279 (GRCm39) missense probably damaging 1.00
IGL03399:Vti1a APN 19 55,487,703 (GRCm39) missense probably benign 0.10
R2484:Vti1a UTSW 19 55,369,411 (GRCm39) missense possibly damaging 0.83
R3736:Vti1a UTSW 19 55,369,364 (GRCm39) splice site probably null
R4844:Vti1a UTSW 19 55,380,297 (GRCm39) missense probably damaging 1.00
R6516:Vti1a UTSW 19 55,369,390 (GRCm39) missense probably damaging 0.99
R6902:Vti1a UTSW 19 55,487,673 (GRCm39) critical splice acceptor site probably null
R8077:Vti1a UTSW 19 55,564,917 (GRCm39) missense probably benign 0.07
R9103:Vti1a UTSW 19 55,316,865 (GRCm39) missense probably benign 0.00
R9449:Vti1a UTSW 19 55,612,278 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TTCCACTAAGCTTGTGGATTCTG -3'
(R):5'- GAAGTTGATTAAGACTCAGCTTTGC -3'

Sequencing Primer
(F):5'- ACTAAGCTTGTGGATTCTGGAATTTG -3'
(R):5'- AGTATCGCTTCCACATGAGTAGCTG -3'
Posted On 2015-07-07