Incidental Mutation 'IGL01532:Vti1b'
ID89788
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vti1b
Ensembl Gene ENSMUSG00000021124
Gene Namevesicle transport through interaction with t-SNAREs 1B
SynonymsVti1-rp1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #IGL01532
Quality Score
Status
Chromosome12
Chromosomal Location79156017-79172667 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to C at 79165138 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Tryptophan at position 1 (L1W)
Ref Sequence ENSEMBL: ENSMUSP00000124741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055262] [ENSMUST00000162569] [ENSMUST00000162789] [ENSMUST00000163031]
Predicted Effect probably damaging
Transcript: ENSMUST00000055262
AA Change: L59W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057462
Gene: ENSMUSG00000021124
AA Change: L59W

DomainStartEndE-ValueType
Pfam:V-SNARE 18 97 1.2e-21 PFAM
t_SNARE 131 198 2.01e-10 SMART
low complexity region 207 224 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000162569
AA Change: L1W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124741
Gene: ENSMUSG00000021124
AA Change: L1W

DomainStartEndE-ValueType
Pfam:V-SNARE 1 39 6.2e-12 PFAM
Pfam:V-SNARE_C 79 127 1.9e-15 PFAM
Predicted Effect silent
Transcript: ENSMUST00000162789
SMART Domains Protein: ENSMUSP00000124260
Gene: ENSMUSG00000021124

DomainStartEndE-ValueType
PDB:2QYW|A 1 38 2e-20 PDB
Predicted Effect unknown
Transcript: ENSMUST00000163031
AA Change: L7W
SMART Domains Protein: ENSMUSP00000124464
Gene: ENSMUSG00000021124
AA Change: L7W

DomainStartEndE-ValueType
Pfam:V-SNARE 1 45 4.5e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170289
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: While the majority of homozygous mutant mice are of normal size, some show reduced weight. A portion of these smaller mice died within 6 weeks of life. Liver cysts were identified in some of the mutant mice that were of normal size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,908,601 N264K probably damaging Het
Adgrl3 C T 5: 81,694,569 T260I probably damaging Het
Ambra1 G T 2: 91,885,632 K769N probably damaging Het
Arel1 A G 12: 84,934,162 V357A possibly damaging Het
Atp11b T A 3: 35,849,502 C76* probably null Het
AW112010 C A 19: 11,048,069 noncoding transcript Het
Bfar A T 16: 13,687,387 probably benign Het
Ccdc70 T G 8: 21,973,283 L30V probably damaging Het
Chrm5 C T 2: 112,479,232 R513Q probably benign Het
Crem G A 18: 3,276,732 T7I probably benign Het
Cyp4f39 C T 17: 32,470,954 probably benign Het
Dlg5 T C 14: 24,158,592 T849A probably benign Het
Dock8 G T 19: 25,169,441 G1428V probably damaging Het
Eomes T C 9: 118,482,249 I380T probably damaging Het
Fam13a T C 6: 58,940,295 D532G probably damaging Het
Fopnl A G 16: 14,304,511 S130P probably benign Het
Gm10061 G T 16: 89,151,302 *55L probably null Het
Gm27438 T G 2: 87,252,925 probably benign Het
Gpalpp1 T C 14: 76,102,502 K124E probably benign Het
Hgs T A 11: 120,477,509 probably null Het
Hpn T A 7: 31,103,513 M121L possibly damaging Het
Il1r1 T C 1: 40,294,928 probably null Het
Jag2 A T 12: 112,914,363 C583S probably damaging Het
Katnal2 T C 18: 77,012,000 H146R probably benign Het
Ldah T C 12: 8,220,596 probably benign Het
Lvrn T A 18: 46,900,484 Y921N probably damaging Het
Muc5b A G 7: 141,870,006 Y4572C possibly damaging Het
Myo16 A G 8: 10,400,551 S518G probably benign Het
Ncf1 T C 5: 134,226,593 N148S probably benign Het
Nes T G 3: 87,978,347 D1260E possibly damaging Het
Nup210 C A 6: 91,085,999 probably benign Het
Olfr548-ps1 T C 7: 102,542,656 L240P probably damaging Het
Rnf31 C A 14: 55,602,623 Q968K probably damaging Het
Ros1 A G 10: 52,090,938 probably benign Het
Ryk T C 9: 102,897,266 Y400H probably benign Het
Slc4a5 T A 6: 83,273,040 probably null Het
Sptssb A G 3: 69,820,869 probably benign Het
Sstr5 T C 17: 25,491,331 D308G probably damaging Het
Taf2 A G 15: 55,049,486 W493R possibly damaging Het
Vmn2r28 T A 7: 5,486,464 I459L probably benign Het
Wdr1 T C 5: 38,535,187 Y125C probably damaging Het
Other mutations in Vti1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1749:Vti1b UTSW 12 79165033 missense probably damaging 0.97
R6306:Vti1b UTSW 12 79160549 nonsense probably null
R7278:Vti1b UTSW 12 79166379 missense probably benign 0.01
R7762:Vti1b UTSW 12 79164946 critical splice donor site probably null
Posted On2013-12-03