Incidental Mutation 'IGL02019:Vnn1'
ID183890
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 #IGL02019
Quality Score
Status
Chromosome10
Chromosomal Location23894688-23905343 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 23903551 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 453 (F453L)
Ref Sequence ENSEMBL: ENSMUSP00000040599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041416]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041416
AA Change: F453L

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040599
Gene: ENSMUSG00000037440
AA Change: F453L

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik C T 5: 114,879,584 A178V possibly damaging Het
9930021J03Rik A T 19: 29,717,063 S976T probably benign Het
Acad11 A G 9: 104,115,345 I495M probably damaging Het
Adgrd1 T C 5: 129,115,138 S91P probably benign Het
Agk A G 6: 40,376,226 I175V probably damaging Het
Ascc3 A T 10: 50,690,139 N727Y probably damaging Het
Atrnl1 A T 19: 57,691,763 probably benign Het
B4galt3 G A 1: 171,271,792 G42D probably damaging Het
Brip1 C T 11: 86,197,949 C42Y possibly damaging Het
Camkk1 T C 11: 73,037,201 F233L probably damaging Het
Cd300ld A T 11: 114,987,401 M95K probably damaging Het
Cdv3 A G 9: 103,360,025 probably benign Het
Cog3 G T 14: 75,730,604 Q430K possibly damaging Het
D6Wsu163e G A 6: 126,955,221 G308S probably damaging Het
Dnah2 A G 11: 69,474,285 M1951T probably damaging Het
Elavl3 G A 9: 22,036,718 T51I probably damaging Het
Eri2 A T 7: 119,786,080 C399* probably null Het
Ezh2 A T 6: 47,551,901 probably null Het
Fgd6 C A 10: 94,133,354 T1161K probably damaging Het
Gbf1 A T 19: 46,279,292 H1193L possibly damaging Het
Gbp2b T A 3: 142,606,990 F378Y possibly damaging Het
Hectd2 G A 19: 36,615,516 V694M possibly damaging Het
Hook1 T A 4: 96,022,197 S683T probably benign Het
Ifi202b G A 1: 173,974,984 R95C possibly damaging Het
Kdm8 G T 7: 125,452,486 V84L probably damaging Het
Kifc3 G A 8: 95,107,540 probably benign Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lrig1 G T 6: 94,616,429 Q424K probably damaging Het
Lrriq1 A T 10: 103,178,800 M1049K probably benign Het
Mcidas A G 13: 112,996,843 N103D probably benign Het
Mdn1 T C 4: 32,749,948 L4377S possibly damaging Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Mug2 G A 6: 122,047,435 V489I probably benign Het
P2rx5 G T 11: 73,167,977 probably benign Het
Pfas A T 11: 68,993,463 probably benign Het
Pknox2 A G 9: 36,923,633 L180P probably damaging Het
Psmd5 C A 2: 34,854,274 C412F probably benign Het
Rbks T A 5: 31,660,017 D136V probably damaging Het
Rgl1 A G 1: 152,528,469 probably benign Het
Scube3 A G 17: 28,167,684 D721G probably damaging Het
Snrnp200 T A 2: 127,232,905 V1466D possibly damaging Het
Stambp A T 6: 83,552,031 L344Q probably damaging Het
Tctn1 A T 5: 122,258,849 I157N probably damaging Het
Top2b T A 14: 16,409,965 D877E probably benign Het
Vmn1r78 G A 7: 12,152,707 G82S probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably 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
IGL02198:Vnn1 APN 10 23903425 missense probably benign 0.00
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 On2014-05-07