Incidental Mutation 'IGL03399:Vti1a'
ID 421352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vti1a
Ensembl Gene ENSMUSG00000024983
Gene Name vesicle transport through interaction with t-SNAREs 1A
Synonyms 4921537J05Rik, Vti1-rp2, 1110014F16Rik, 1110018K19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03399
Quality Score
Status
Chromosome 19
Chromosomal Location 55304727-55615741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55487703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 183 (K183R)
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: K176R

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000093644
Gene: ENSMUSG00000024983
AA Change: K176R

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: K183R

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000225529
AA Change: K176R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 C T 2: 150,479,798 (GRCm39) G303D probably damaging Het
Adam6b A T 12: 113,454,728 (GRCm39) Y515F probably damaging Het
Birc2 A T 9: 7,821,088 (GRCm39) L412Q probably damaging Het
Birc6 T C 17: 74,901,368 (GRCm39) I1144T probably benign Het
Dip2b A T 15: 100,073,208 (GRCm39) N770I possibly damaging Het
Dmxl2 T C 9: 54,353,956 (GRCm39) N671D probably damaging Het
Dpyd A G 3: 119,108,426 (GRCm39) D823G probably damaging Het
Eif5 A G 12: 111,511,024 (GRCm39) D367G probably damaging Het
Exog T G 9: 119,276,017 (GRCm39) S56A possibly damaging Het
Hap1 C A 11: 100,245,093 (GRCm39) M39I possibly damaging Het
Hsd17b6 A T 10: 127,829,625 (GRCm39) H192Q probably benign Het
Insrr T A 3: 87,716,638 (GRCm39) L622Q probably null Het
Kars1 G T 8: 112,734,926 (GRCm39) A20E probably benign Het
Kyat3 A G 3: 142,431,771 (GRCm39) D197G probably damaging Het
Mapk9 T A 11: 49,774,126 (GRCm39) probably benign Het
Naip1 A T 13: 100,545,426 (GRCm39) D1367E probably damaging Het
Oaz1 G A 10: 80,664,176 (GRCm39) S84N probably benign Het
Ofcc1 T C 13: 40,296,314 (GRCm39) R507G possibly damaging Het
Or1j16 T G 2: 36,530,894 (GRCm39) V281G possibly damaging Het
Or5p6 A G 7: 107,630,789 (GRCm39) F254L probably benign Het
Or8g24 A T 9: 38,989,533 (GRCm39) C169* probably null Het
Pclo T A 5: 14,816,745 (GRCm39) D4540E unknown Het
Ppp6r1 A G 7: 4,646,251 (GRCm39) V150A probably damaging Het
Prdm2 T C 4: 142,861,658 (GRCm39) D544G probably benign Het
Rab27b A G 18: 70,120,067 (GRCm39) I128T possibly damaging Het
Scart2 G A 7: 139,827,869 (GRCm39) E26K probably benign Het
Slc25a1 G T 16: 17,743,684 (GRCm39) T195K probably damaging Het
Tex10 T C 4: 48,459,915 (GRCm39) N479D probably benign Het
Thsd7b G T 1: 129,556,622 (GRCm39) W326L probably damaging Het
Tril T C 6: 53,797,042 (GRCm39) D60G probably benign Het
Ttn C T 2: 76,615,625 (GRCm39) R14984H probably damaging Het
Uba2 G A 7: 33,843,939 (GRCm39) T12I probably damaging Het
Vmn2r107 T C 17: 20,578,220 (GRCm39) probably benign Het
Zkscan16 T C 4: 58,956,915 (GRCm39) V399A probably benign Het
Other mutations in Vti1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03130:Vti1a APN 19 55,380,279 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2016-08-02