|Institutional Source||Beutler Lab|
|Gene Name||vanin 1|
|Is this an essential gene?||Probably non essential (E-score: 0.141)|
|Stock #||R5495 (G1)|
|Chromosomal Location||23894688-23905343 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 23898564 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 168 (F168L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040599 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041416]|
|Predicted Effect||probably damaging
AA Change: F168L
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: F168L
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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||
|Other mutations in Vnn1||
(F):5'- CCACTATTGGCGTCCTTTGAAG -3'
(R):5'- AAATACTGCCCTCTCTGCTG -3'
(F):5'- TCTCTCCCAATGGAAATATATACCAG -3'
(R):5'- TGCTGTCACCACTCCACTCTAAAG -3'