Incidental Mutation 'IGL02738:Vnn1'
ID305776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vnn1
Ensembl Gene ENSMUSG00000037440
Gene Namevanin 1
SynonymsV-1, pantetheinase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #IGL02738
Quality Score
Status
Chromosome10
Chromosomal Location23894688-23905343 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23904622 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 503 (I503V)
Ref Sequence ENSEMBL: ENSMUSP00000040599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041416]
Predicted Effect probably benign
Transcript: ENSMUST00000041416
AA Change: I503V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040599
Gene: ENSMUSG00000037440
AA Change: I503V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:CN_hydrolase 52 279 2.5e-19 PFAM
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 member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for disruptions of this gene develop normally and so no abnormalities in the maturation of lymphoid organs. However, membrane bound pantetheinase is absent in livers and kidneys resuulting in an absence of cysteamine in these organs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 A T 2: 150,624,872 probably benign Het
Akr1c21 A T 13: 4,580,301 N198Y probably damaging Het
Anapc11 A T 11: 120,599,276 K6I probably benign Het
Angel1 G A 12: 86,705,286 L554F probably benign Het
Arhgap11a A T 2: 113,832,975 *988K probably null Het
Arnt T A 3: 95,495,320 probably null Het
Atp1a3 T A 7: 24,990,476 D519V possibly damaging Het
Bdp1 C A 13: 100,051,353 A1575S probably benign Het
Bglap G A 3: 88,384,408 T3I unknown Het
Brca2 C T 5: 150,567,035 P3054L probably damaging Het
Btn2a2 C A 13: 23,478,806 E316* probably null Het
C1qtnf9 C T 14: 60,779,939 T306I probably benign Het
Caprin2 T C 6: 148,842,862 T1022A probably damaging Het
Cd109 T C 9: 78,691,299 Y940H probably damaging Het
Cd300ld A G 11: 114,984,250 L186S probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd6 A T 2: 160,965,698 S1865R probably benign Het
Chrna2 T C 14: 66,149,440 V345A probably benign Het
Dnah1 T G 14: 31,292,640 E1756A probably benign Het
Dnah3 C T 7: 119,965,497 A2637T probably benign Het
Ern2 A G 7: 122,182,899 F80S probably damaging Het
Ero1lb A G 13: 12,604,433 I439V possibly damaging Het
Eva1a T G 6: 82,071,230 S30A probably benign Het
Fam71d T A 12: 78,734,215 probably benign Het
Fer1l4 A G 2: 156,045,728 L516P probably benign Het
Hexim2 T C 11: 103,138,277 S52P probably damaging Het
Hoxb9 A T 11: 96,274,728 M208L possibly damaging Het
Lbr A G 1: 181,832,213 V139A probably benign Het
Lcn10 G A 2: 25,684,020 probably benign Het
Letm2 A G 8: 25,586,773 I271T probably damaging Het
Lrrc34 T C 3: 30,631,292 S303G possibly damaging Het
Matn2 C A 15: 34,388,739 A325D probably benign Het
Mboat4 T C 8: 34,115,104 L4P probably damaging Het
Mmp1a T A 9: 7,464,301 probably benign Het
Naip2 T A 13: 100,189,177 R74S probably benign Het
Neb G T 2: 52,243,850 Q3374K probably damaging Het
Nup210l A G 3: 90,136,850 E486G possibly damaging Het
Olfr1024 A G 2: 85,904,949 V35A probably benign Het
Olfr1301 A C 2: 111,754,354 Y35S probably damaging Het
Olfr142 A G 2: 90,252,355 I211T possibly damaging Het
Olfr816 A T 10: 129,911,331 probably benign Het
Pde8a A C 7: 81,326,342 N677H probably damaging Het
Plag1 G A 4: 3,903,812 Q460* probably null Het
Podnl1 A G 8: 84,132,195 T550A probably benign Het
Ptpn22 A G 3: 103,874,066 probably benign Het
Pycrl A T 15: 75,918,716 I98N probably damaging Het
Rtn4r A G 16: 18,151,188 Y160C probably damaging Het
Slc27a4 A G 2: 29,811,226 N343S probably benign Het
Slc2a4 A G 11: 69,946,114 Y43H probably damaging Het
Sorbs1 A T 19: 40,376,904 L145Q probably damaging Het
Speer2 A T 16: 69,861,712 S22T probably benign Het
Sugp2 G T 8: 70,243,799 G474V probably damaging Het
Syt3 C T 7: 44,386,023 S18L possibly damaging Het
Tacc1 T C 8: 25,201,143 E48G probably damaging Het
Tdrd6 A G 17: 43,620,446 V2083A probably benign Het
Thra A T 11: 98,764,359 H355L probably benign Het
Tmem35b C T 4: 127,126,188 Q34* probably null Het
Unk G T 11: 116,056,191 G537V probably damaging Het
Usp32 T A 11: 85,083,806 D92V probably damaging Het
Vmn1r209 G T 13: 22,806,120 Y133* probably null Het
Vmn1r42 A G 6: 89,844,648 V313A possibly damaging Het
Vwa2 G A 19: 56,897,929 G143R possibly damaging Het
Other mutations in Vnn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Vnn1 APN 10 23900779 missense possibly damaging 0.51
IGL01299:Vnn1 APN 10 23895051 missense probably damaging 1.00
IGL01353:Vnn1 APN 10 23900840 missense probably damaging 1.00
IGL01774:Vnn1 APN 10 23900710 missense probably benign 0.26
IGL01970:Vnn1 APN 10 23897402 missense probably benign 0.06
IGL01985:Vnn1 APN 10 23900744 missense probably benign 0.00
IGL02019:Vnn1 APN 10 23903551 missense possibly damaging 0.69
IGL02198:Vnn1 APN 10 23903425 missense probably benign 0.00
IGL02349:Vnn1 APN 10 23898503 missense possibly damaging 0.91
IGL03058:Vnn1 APN 10 23904544 missense probably benign 0.06
R0008:Vnn1 UTSW 10 23898602 critical splice donor site probably null
R0030:Vnn1 UTSW 10 23900846 missense probably benign 0.08
R0508:Vnn1 UTSW 10 23895012 missense probably benign 0.01
R0781:Vnn1 UTSW 10 23899601 missense possibly damaging 0.46
R1110:Vnn1 UTSW 10 23899601 missense possibly damaging 0.46
R1757:Vnn1 UTSW 10 23900828 missense possibly damaging 0.49
R1757:Vnn1 UTSW 10 23900829 missense probably benign 0.00
R1778:Vnn1 UTSW 10 23899517 missense possibly damaging 0.67
R2011:Vnn1 UTSW 10 23894971 nonsense probably null
R2055:Vnn1 UTSW 10 23900577 splice site probably benign
R2158:Vnn1 UTSW 10 23900755 nonsense probably null
R2186:Vnn1 UTSW 10 23897401 missense probably benign 0.29
R4277:Vnn1 UTSW 10 23898512 missense possibly damaging 0.89
R4279:Vnn1 UTSW 10 23898512 missense possibly damaging 0.89
R4473:Vnn1 UTSW 10 23894891 missense probably benign
R4590:Vnn1 UTSW 10 23899405 missense possibly damaging 0.61
R4708:Vnn1 UTSW 10 23897352 missense probably benign 0.01
R4794:Vnn1 UTSW 10 23900704 missense probably benign 0.01
R5266:Vnn1 UTSW 10 23903405 missense probably damaging 1.00
R5495:Vnn1 UTSW 10 23898564 missense probably damaging 0.98
R6064:Vnn1 UTSW 10 23894909 missense probably benign 0.05
R7081:Vnn1 UTSW 10 23895005 missense possibly damaging 0.66
R7088:Vnn1 UTSW 10 23900747 missense probably benign 0.00
R7221:Vnn1 UTSW 10 23895054 missense probably benign 0.07
R7334:Vnn1 UTSW 10 23900760 missense probably benign 0.04
Posted On2015-04-16