Incidental Mutation 'R6902:Vti1a'
ID 538619
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 045032-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6902 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 55304727-55615741 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 55487673 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 probably null
Transcript: ENSMUST00000225529
Meta Mutation Damage Score 0.9571 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik C G 13: 119,624,680 (GRCm39) probably benign Het
Abcc9 T A 6: 142,624,953 (GRCm39) S481C probably damaging Het
Adgrl3 C A 5: 81,837,434 (GRCm39) S773R probably damaging Het
Alkbh5 G A 11: 60,429,381 (GRCm39) A45T probably benign Het
Ankrd6 C A 4: 32,806,419 (GRCm39) Q576H probably damaging Het
Ankrd6 T A 4: 32,806,420 (GRCm39) Q576L probably damaging Het
Carmil1 T C 13: 24,299,528 (GRCm39) N332S possibly damaging Het
Cc2d2b A G 19: 40,804,733 (GRCm39) Q1250R possibly damaging Het
Chd9 A C 8: 91,769,579 (GRCm39) N2539T probably damaging Het
Clec4b2 C T 6: 123,177,987 (GRCm39) Q101* probably null Het
Clstn2 A T 9: 97,351,875 (GRCm39) F517I probably damaging Het
Cog2 A G 8: 125,273,430 (GRCm39) K590E probably damaging Het
Coq9 G A 8: 95,577,180 (GRCm39) E182K probably benign Het
Fcgbpl1 C T 7: 27,836,638 (GRCm39) R186C probably damaging Het
Focad C T 4: 88,148,713 (GRCm39) R477C unknown Het
Gja10 G T 4: 32,601,905 (GRCm39) H160N probably damaging Het
Gpr132 T A 12: 112,815,830 (GRCm39) Y332F probably benign Het
Herc2 A G 7: 55,785,234 (GRCm39) T1495A probably benign Het
Hivep3 T A 4: 119,953,192 (GRCm39) S503T possibly damaging Het
Ifi44 A T 3: 151,451,536 (GRCm39) I190N possibly damaging Het
Igf1r T A 7: 67,653,911 (GRCm39) C150S probably damaging Het
Ighv1-42 T A 12: 114,901,155 (GRCm39) N4Y possibly damaging Het
Klra9 T A 6: 130,156,003 (GRCm39) I251F probably benign Het
Krt79 T C 15: 101,840,314 (GRCm39) N294S probably benign Het
Lama2 T G 10: 26,857,625 (GRCm39) T3075P probably damaging Het
Lrfn1 T G 7: 28,159,238 (GRCm39) C386G probably benign Het
Lrp2 T C 2: 69,289,847 (GRCm39) D3664G probably damaging Het
Mfsd3 T A 15: 76,587,349 (GRCm39) M344K probably damaging Het
Mier2 C A 10: 79,376,673 (GRCm39) probably benign Het
Mmp2 G A 8: 93,563,545 (GRCm39) V340M probably damaging Het
Mrgprb3 T A 7: 48,293,447 (GRCm39) I35F probably benign Het
Myo5b A T 18: 74,809,756 (GRCm39) I613F possibly damaging Het
Nicol1 G A 5: 34,140,923 (GRCm39) probably benign Het
Or14c43 T A 7: 86,114,995 (GRCm39) C125* probably null Het
Or51f1e A T 7: 102,747,562 (GRCm39) I205F probably benign Het
Or7d11 A T 9: 19,966,670 (GRCm39) L30M possibly damaging Het
Or8g30 C A 9: 39,230,315 (GRCm39) L198F probably damaging Het
Pan2 A G 10: 128,151,506 (GRCm39) T867A probably benign Het
Papolb T A 5: 142,513,906 (GRCm39) H579L probably benign Het
Pcf11 C A 7: 92,307,507 (GRCm39) G887V probably damaging Het
Pdzd8 A G 19: 59,289,829 (GRCm39) S524P possibly damaging Het
Pole3 T C 4: 62,442,300 (GRCm39) probably benign Het
Prdm14 C T 1: 13,192,645 (GRCm39) V365I probably benign Het
Shank1 T A 7: 44,006,239 (GRCm39) F1985L probably benign Het
Slc13a1 T C 6: 24,097,665 (GRCm39) I421V possibly damaging Het
Slc2a6 C T 2: 26,913,172 (GRCm39) V374M probably benign Het
Spata1 A T 3: 146,181,078 (GRCm39) N293K possibly damaging Het
Stk40 T A 4: 126,031,605 (GRCm39) D366E probably benign Het
Tas2r117 T C 6: 132,780,288 (GRCm39) L142S probably damaging Het
Tomm70a T C 16: 56,958,444 (GRCm39) S266P probably damaging Het
Trgv1 T C 13: 19,524,190 (GRCm39) L2P probably benign Het
Vipr2 A T 12: 116,102,819 (GRCm39) T310S possibly damaging Het
Zfp961 A G 8: 72,722,522 (GRCm39) K345R 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
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
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'- CTAGAGCTCTTTAGTCTCTGGAGC -3'
(R):5'- AGAAAGGGTTAACATCAGTGCTC -3'

Sequencing Primer
(F):5'- AGTCTCTGGAGCTGAGAGTC -3'
(R):5'- TGTTGACCCAGCCAAGGAG -3'
Posted On 2018-11-06