Incidental Mutation 'IGL02198:Vnn1'
ID284109
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: 0.099) question?
Stock #IGL02198
Quality Score
Status
Chromosome10
Chromosomal Location23894688-23905343 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 23903425 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 411 (T411S)
Ref Sequence ENSEMBL: ENSMUSP00000040599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041416]
Predicted Effect probably benign
Transcript: ENSMUST00000041416
AA Change: T411S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000040599
Gene: ENSMUSG00000037440
AA Change: T411S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:CN_hydrolase 52 279 2.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219254
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A G 2: 131,546,492 I381T probably damaging Het
Armt1 T A 10: 4,454,064 F383Y possibly damaging Het
Cdca2 A G 14: 67,694,996 V486A probably benign Het
Cep78 A G 19: 15,956,369 L615S probably damaging Het
Clec2h C A 6: 128,674,016 C86* probably null Het
Cntnap5a C T 1: 116,580,532 T1258I probably benign Het
Dhrs7c T A 11: 67,815,802 M262K possibly damaging Het
Dmpk C A 7: 19,088,192 F332L probably damaging Het
Dyx1c1 G A 9: 72,969,066 V308I probably benign Het
Fap A G 2: 62,554,798 F73L probably benign Het
Igsf10 A T 3: 59,325,978 I1778N possibly damaging Het
Il6ra T C 3: 89,890,348 T71A probably benign Het
Itpr2 C A 6: 146,323,227 A1389S probably damaging Het
Mob3b T C 4: 35,083,983 N69D probably damaging Het
Nr1h3 A G 2: 91,192,725 W21R probably damaging Het
Olfr1305 A T 2: 111,873,248 N202K probably damaging Het
Ovca2 A G 11: 75,178,770 V9A possibly damaging Het
Ovch2 T A 7: 107,794,834 K137N probably damaging Het
Pabpc1l A G 2: 164,027,616 N112S probably damaging Het
Plekho1 T A 3: 95,992,184 N99I probably damaging Het
Recql5 A C 11: 115,894,673 S666A probably benign Het
Scn3a G T 2: 65,508,489 H615Q probably benign Het
Sel1l3 A G 5: 53,139,799 probably benign Het
Slc38a2 A T 15: 96,692,377 S328T probably damaging Het
Taok1 T C 11: 77,575,677 probably benign Het
Tsnax T A 8: 125,032,712 Y237* probably null Het
Ttn T A 2: 76,714,630 K24382N probably damaging Het
Ugt1a9 T A 1: 88,071,443 V205E possibly damaging Het
Unc80 C A 1: 66,529,986 D933E possibly damaging Het
Wdr27 C A 17: 14,908,598 G531V possibly damaging Het
Zfp760 G T 17: 21,722,212 V123L probably benign 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
IGL02349:Vnn1 APN 10 23898503 missense possibly damaging 0.91
IGL02738:Vnn1 APN 10 23904622 missense probably benign 0.00
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