Incidental Mutation 'R3736:Vti1a'
ID 270145
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 040723-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3736 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 55304727-55615741 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 55369364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095950] [ENSMUST00000223690] [ENSMUST00000225529]
AlphaFold O89116
Predicted Effect probably null
Transcript: ENSMUST00000095950
SMART Domains Protein: ENSMUSP00000093644
Gene: ENSMUSG00000024983

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 null
Transcript: ENSMUST00000223690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225392
Predicted Effect probably null
Transcript: ENSMUST00000225529
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (53/53)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G A 7: 29,273,996 (GRCm39) noncoding transcript Het
Acot12 T A 13: 91,932,465 (GRCm39) I487N probably benign Het
Acox3 A G 5: 35,768,497 (GRCm39) K686R probably benign Het
Adgrf2 T C 17: 43,021,903 (GRCm39) E307G probably benign Het
Ang2 G A 14: 51,433,113 (GRCm39) R90* probably null Het
Ankrd11 A T 8: 123,618,524 (GRCm39) V1776D probably damaging Het
Atp12a G A 14: 56,611,884 (GRCm39) V353I possibly damaging Het
Bbs7 A G 3: 36,661,819 (GRCm39) Y127H possibly damaging Het
C8a T C 4: 104,674,812 (GRCm39) E509G probably benign Het
Ccdc158 A C 5: 92,780,283 (GRCm39) L930R possibly damaging Het
Ccdc162 T C 10: 41,465,564 (GRCm39) probably null Het
Cep170b A T 12: 112,707,438 (GRCm39) I395F probably damaging Het
Cimip2c A T 5: 30,639,442 (GRCm39) Y123F probably benign Het
Clcn3 T A 8: 61,436,686 (GRCm39) probably benign Het
Ctps1 T C 4: 120,400,943 (GRCm39) T459A probably benign Het
Cyp2j8 T A 4: 96,332,836 (GRCm39) R503S probably damaging Het
Dync1h1 G A 12: 110,598,109 (GRCm39) V1767I probably benign Het
Evi5 A T 5: 107,966,849 (GRCm39) V224D probably damaging Het
F8 G A X: 74,254,981 (GRCm39) P2138S probably damaging Het
Helq T G 5: 100,938,054 (GRCm39) D464A possibly damaging Het
Irag1 A G 7: 110,523,170 (GRCm39) V297A probably benign Het
Irag2 G A 6: 145,106,596 (GRCm39) probably benign Het
Kcnk10 A G 12: 98,456,171 (GRCm39) V203A probably benign Het
Lef1 C T 3: 130,984,715 (GRCm39) P160S possibly damaging Het
Lyn G T 4: 3,745,330 (GRCm39) W78C probably damaging Het
Med12l T A 3: 58,998,916 (GRCm39) H614Q probably damaging Het
Mogs C A 6: 83,093,757 (GRCm39) T242K possibly damaging Het
Morc3 T A 16: 93,671,700 (GRCm39) V910E probably damaging Het
Ncapg A T 5: 45,853,469 (GRCm39) Q906L probably benign Het
Nup210l A G 3: 90,027,320 (GRCm39) Y234C probably damaging Het
Olr1 T A 6: 129,476,838 (GRCm39) probably benign Het
Or5p76 A G 7: 108,122,626 (GRCm39) V177A possibly damaging Het
Osmr A T 15: 6,851,561 (GRCm39) Y656N probably damaging Het
Pde4dip A T 3: 97,631,427 (GRCm39) F1161I probably damaging Het
Poc5 A G 13: 96,533,324 (GRCm39) S151G probably damaging Het
Rmnd5a T C 6: 71,373,846 (GRCm39) D316G possibly damaging Het
Shroom3 T C 5: 93,112,303 (GRCm39) V1888A possibly damaging Het
Shtn1 A T 19: 59,010,700 (GRCm39) S256T probably benign Het
Sptlc2 G A 12: 87,388,339 (GRCm39) A381V probably benign Het
Suclg2 T A 6: 95,474,677 (GRCm39) I363F probably damaging Het
Tas2r134 C A 2: 51,517,786 (GRCm39) N88K probably damaging Het
Tbc1d32 A G 10: 56,005,189 (GRCm39) Y815H probably damaging Het
Tnrc6b G C 15: 80,773,364 (GRCm39) probably benign Het
Zfp273 T A 13: 67,973,626 (GRCm39) C251* probably null Het
Zfp683 C A 4: 133,784,742 (GRCm39) Q330K probably benign Het
Zfpm1 G A 8: 123,050,475 (GRCm39) C117Y possibly damaging Het
Zscan4d T C 7: 10,896,803 (GRCm39) N189S probably benign 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
R4416:Vti1a UTSW 19 55,369,380 (GRCm39) missense probably benign 0.32
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'- AACACTCCCAGTCGCTCTTG -3'
(R):5'- TGCTAATACTGTTAGGGAGCAGC -3'

Sequencing Primer
(F):5'- CCCAGTCGCTCTTGTTTTAATAAC -3'
(R):5'- CTAATACTGTTAGGGAGCAGCTTGAG -3'
Posted On 2015-03-18