Incidental Mutation 'IGL03089:Vipas39'
ID418302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vipas39
Ensembl Gene ENSMUSG00000021038
Gene NameVPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.427) question?
Stock #IGL03089
Quality Score
Status
Chromosome12
Chromosomal Location87238868-87266256 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 87253254 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 149 (C149Y)
Ref Sequence ENSEMBL: ENSMUSP00000137190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021426] [ENSMUST00000072744] [ENSMUST00000179379]
Predicted Effect probably damaging
Transcript: ENSMUST00000021426
AA Change: C149Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021426
Gene: ENSMUSG00000021038
AA Change: C149Y

DomainStartEndE-ValueType
Pfam:Golgin_A5 24 470 4.3e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072744
AA Change: C168Y

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000072527
Gene: ENSMUSG00000021038
AA Change: C168Y

DomainStartEndE-ValueType
Pfam:Golgin_A5 24 489 3.7e-154 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179379
AA Change: C149Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137190
Gene: ENSMUSG00000021038
AA Change: C149Y

DomainStartEndE-ValueType
Pfam:Golgin_A5 24 470 4.3e-147 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222350
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a conditional allele activated by an inducible cre exhibit dry and scaly skin, hair loss, and defects in tail tendon collagen I structure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A G 3: 95,677,246 S947P probably damaging Het
Agl T A 3: 116,781,023 H709L probably damaging Het
Alpi T A 1: 87,100,108 D250V probably benign Het
Anapc4 A G 5: 52,866,398 S735G probably benign Het
Ank1 A T 8: 23,104,832 I611L probably benign Het
Canx A G 11: 50,304,482 V253A possibly damaging Het
Cbfa2t3 A T 8: 122,635,134 I383N probably damaging Het
Cdc23 T C 18: 34,634,460 Y519C probably damaging Het
Celsr3 T A 9: 108,826,607 N96K probably benign Het
Clptm1 A G 7: 19,637,147 Y355H probably damaging Het
Col6a5 C T 9: 105,933,839 S827N unknown Het
Cyp21a1 G T 17: 34,803,446 probably null Het
Cyp24a1 T G 2: 170,485,966 H452P probably damaging Het
Cyp2c39 T A 19: 39,563,851 H329Q probably benign Het
D630003M21Rik C T 2: 158,216,744 R412Q probably benign Het
Dennd1b G A 1: 139,102,029 R308Q possibly damaging Het
Deup1 T C 9: 15,607,800 S137G possibly damaging Het
Dmbt1 T A 7: 131,111,049 I1583N probably damaging Het
Dvl1 G A 4: 155,855,152 V320M probably damaging Het
Elmod3 A G 6: 72,569,316 S254P probably damaging Het
Emsy G A 7: 98,637,266 Q226* probably null Het
Ephb6 C A 6: 41,614,174 D88E probably damaging Het
Exoc1 A G 5: 76,542,158 M182V possibly damaging Het
Fbxw4 T G 19: 45,591,721 probably benign Het
Fgr A G 4: 132,986,266 D35G probably damaging Het
Gm13078 A G 4: 143,726,133 T45A probably benign Het
Gm20547 A T 17: 34,861,032 D366E probably damaging Het
Gucy1a1 T C 3: 82,097,681 N599S probably damaging Het
Ighg2b G A 12: 113,306,678 P240L probably damaging Het
Jak3 A G 8: 71,686,083 D975G probably benign Het
Klhl26 A T 8: 70,455,633 N24K probably benign Het
Letm1 T A 5: 33,760,858 E314D probably damaging Het
Lin54 A T 5: 100,450,993 F319L probably damaging Het
Lrp5 A T 19: 3,620,314 probably null Het
Lvrn T C 18: 46,880,709 F486S probably damaging Het
Nov C T 15: 54,749,284 R230C possibly damaging Het
Olfr1218 T C 2: 89,055,013 R138G probably benign Het
Olfr378 T C 11: 73,425,183 T267A probably benign Het
Olfr631 A C 7: 103,929,122 I100L probably benign Het
Olfr93 A G 17: 37,151,643 C110R probably damaging Het
Olfr969 A T 9: 39,795,681 Y102F probably benign Het
Sap30bp T A 11: 115,957,388 M112K possibly damaging Het
Sbno1 A G 5: 124,387,311 probably benign Het
Slc30a5 T C 13: 100,813,830 I307V probably benign Het
Trim37 T A 11: 87,190,137 D21E probably damaging Het
Usp34 T C 11: 23,446,958 F614S possibly damaging Het
Usp39 A C 6: 72,328,639 F387C probably damaging Het
Vmn2r107 C A 17: 20,375,712 H842Q probably benign Het
Vps18 T A 2: 119,293,177 V195E probably benign Het
Vsx1 A G 2: 150,685,590 probably benign Het
Other mutations in Vipas39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Vipas39 APN 12 87249397 missense probably benign 0.03
IGL01418:Vipas39 APN 12 87249397 missense probably benign 0.03
IGL02026:Vipas39 APN 12 87251709 splice site probably benign
R0173:Vipas39 UTSW 12 87250511 splice site probably benign
R0909:Vipas39 UTSW 12 87241331 missense probably benign 0.21
R1505:Vipas39 UTSW 12 87246160 missense probably damaging 1.00
R2897:Vipas39 UTSW 12 87242523 missense possibly damaging 0.78
R2968:Vipas39 UTSW 12 87242571 missense probably benign 0.45
R2969:Vipas39 UTSW 12 87242571 missense probably benign 0.45
R2970:Vipas39 UTSW 12 87242571 missense probably benign 0.45
R4622:Vipas39 UTSW 12 87244543 missense probably damaging 1.00
R4676:Vipas39 UTSW 12 87241301 missense probably damaging 1.00
R5181:Vipas39 UTSW 12 87239827 missense probably damaging 1.00
R5188:Vipas39 UTSW 12 87254247 missense probably benign 0.21
R5881:Vipas39 UTSW 12 87251807 nonsense probably null
R6080:Vipas39 UTSW 12 87241953 missense probably damaging 1.00
R6425:Vipas39 UTSW 12 87241289 missense probably damaging 0.98
R6896:Vipas39 UTSW 12 87242571 missense probably benign 0.45
R7438:Vipas39 UTSW 12 87241931 splice site probably null
R7538:Vipas39 UTSW 12 87263903 critical splice donor site probably null
R8436:Vipas39 UTSW 12 87257417 missense probably damaging 0.99
R8919:Vipas39 UTSW 12 87259084 nonsense probably null
Posted On2016-08-02