Incidental Mutation 'IGL03130:Vti1a'
ID410281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vti1a
Ensembl Gene ENSMUSG00000024983
Gene Namevesicle transport through interaction with t-SNAREs 1A
Synonyms1110018K19Rik, 1110014F16Rik, 4921537J05Rik, Vti1-rp2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03130
Quality Score
Status
Chromosome19
Chromosomal Location55316295-55627309 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55391847 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 143 (Y143H)
Ref Sequence ENSEMBL: ENSMUSP00000153629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095950] [ENSMUST00000223690] [ENSMUST00000225529]
Predicted Effect probably damaging
Transcript: ENSMUST00000095950
AA Change: Y136H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093644
Gene: ENSMUSG00000024983
AA Change: Y136H

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 damaging
Transcript: ENSMUST00000223690
AA Change: Y143H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224396
Predicted Effect possibly damaging
Transcript: ENSMUST00000225529
AA Change: Y136H

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,474,589 E941G possibly damaging Het
AI314180 A T 4: 58,800,288 C1806S probably benign Het
Akap11 A T 14: 78,510,368 Y1526* probably null Het
Brd1 T C 15: 88,688,374 I1165V probably benign Het
Btbd11 G T 10: 85,388,483 probably null Het
Cdan1 T C 2: 120,727,912 D473G possibly damaging Het
Clstn3 G A 6: 124,459,263 L176F probably damaging Het
Ctif T C 18: 75,521,618 N279S probably benign Het
Dpy19l3 A G 7: 35,752,672 S16P probably benign Het
Fam151b T C 13: 92,450,193 Y244C probably benign Het
Gbf1 T C 19: 46,267,348 M750T possibly damaging Het
Gm11564 T A 11: 99,815,053 T184S unknown Het
Gnptab A G 10: 88,436,371 K958E possibly damaging Het
Hibch T C 1: 52,885,151 S162P possibly damaging Het
Itpr1 T C 6: 108,523,401 S2651P probably benign Het
Lyrm1 A G 7: 119,914,180 D56G probably damaging Het
Manba T C 3: 135,551,159 Y528H probably damaging Het
Npas2 A C 1: 39,313,028 E186D probably damaging Het
Olfr1314 A T 2: 112,091,821 D293E probably benign Het
Olfr371 A T 8: 85,230,629 I45F possibly damaging Het
Olfr867 C A 9: 20,055,372 L30F probably benign Het
Oraov1 A G 7: 144,916,460 E42G probably damaging Het
Pcdhb6 T A 18: 37,335,587 Y520* probably null Het
Plekhm1 C T 11: 103,377,381 R588H probably benign Het
Psg23 A T 7: 18,610,416 H371Q probably benign Het
Ptpn12 T C 5: 21,002,612 probably benign Het
Rela T C 19: 5,639,881 C120R probably damaging Het
Rps6kc1 T A 1: 190,799,811 I665F probably damaging Het
Spg21 A G 9: 65,473,708 Q99R probably benign Het
St14 A G 9: 31,097,071 probably null Het
Sult1c2 A T 17: 53,830,071 N274K probably benign Het
Syk T C 13: 52,622,732 V256A probably benign Het
Tcte1 A G 17: 45,533,296 D66G probably damaging Het
Tgm4 C T 9: 123,056,515 T374M probably damaging Het
Tns4 T C 11: 99,068,269 H668R probably damaging Het
Tsn C T 1: 118,305,269 A102T possibly damaging Het
Uvssa T A 5: 33,391,845 S350T possibly damaging Het
Vmn1r3 T A 4: 3,185,214 Y31F possibly damaging Het
Vmn2r114 A T 17: 23,296,996 probably benign Het
Vmn2r27 T C 6: 124,192,317 D618G possibly damaging Het
Vmn2r91 T A 17: 18,110,111 probably benign Het
Zfand4 T A 6: 116,273,659 Y17N probably damaging Het
Zfp729a T C 13: 67,619,642 probably null Het
Zfp827 A G 8: 79,060,957 T251A probably damaging Het
Other mutations in Vti1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03399:Vti1a APN 19 55499271 missense probably benign 0.10
R2484:Vti1a UTSW 19 55380979 missense possibly damaging 0.83
R3736:Vti1a UTSW 19 55380932 splice site probably null
R4416:Vti1a UTSW 19 55380948 missense probably benign 0.32
R4844:Vti1a UTSW 19 55391865 missense probably damaging 1.00
R6516:Vti1a UTSW 19 55380958 missense probably damaging 0.99
R6902:Vti1a UTSW 19 55499241 critical splice acceptor site probably null
Posted On2016-08-02