Incidental Mutation 'IGL00838:Vnn1'
ID 14801
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vnn1
Ensembl Gene ENSMUSG00000037440
Gene Name vanin 1
Synonyms V-1, pantetheinase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # IGL00838
Quality Score
Status
Chromosome 10
Chromosomal Location 23770586-23781241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23776677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 343 (F343L)
Ref Sequence ENSEMBL: ENSMUSP00000040599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041416]
AlphaFold Q9Z0K8
Predicted Effect possibly damaging
Transcript: ENSMUST00000041416
AA Change: F343L

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000040599
Gene: ENSMUSG00000037440
AA Change: F343L

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 C A 1: 93,330,479 (GRCm39) N834K possibly damaging Het
Armc10 T A 5: 21,866,579 (GRCm39) V281E probably damaging Het
Baat A T 4: 49,490,352 (GRCm39) M244K probably damaging Het
Cryz T A 3: 154,324,112 (GRCm39) C166S probably damaging Het
D430041D05Rik T A 2: 104,031,648 (GRCm39) K1649N probably damaging Het
Dennd5b T C 6: 148,906,861 (GRCm39) probably benign Het
Dock8 A T 19: 25,152,823 (GRCm39) R1630* probably null Het
Gstm5 A G 3: 107,804,874 (GRCm39) N122S probably benign Het
Klra5 C A 6: 129,888,322 (GRCm39) G35C possibly damaging Het
Klrb1f G A 6: 129,031,279 (GRCm39) V159I possibly damaging Het
Mgl2 A T 11: 70,025,038 (GRCm39) M14L probably benign Het
Mob1a C T 6: 83,315,313 (GRCm39) R78C possibly damaging Het
Pigo C T 4: 43,021,767 (GRCm39) A392T possibly damaging Het
Polr3a A T 14: 24,525,931 (GRCm39) N436K probably benign Het
Prokr1 T C 6: 87,565,675 (GRCm39) T57A possibly damaging Het
Ror1 T G 4: 100,190,940 (GRCm39) V99G probably damaging Het
Ryr2 A T 13: 11,583,389 (GRCm39) I4755N probably damaging Het
Senp5 T C 16: 31,807,991 (GRCm39) D394G probably damaging Het
Skic3 T C 13: 76,282,910 (GRCm39) L744P probably damaging Het
Speg A G 1: 75,387,034 (GRCm39) I1318V possibly damaging Het
Syt6 T A 3: 103,532,942 (GRCm39) M357K probably damaging Het
Tex11 A T X: 100,015,724 (GRCm39) I328N possibly damaging Het
Wdr72 A T 9: 74,062,411 (GRCm39) E519V probably damaging Het
Other mutations in Vnn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Vnn1 APN 10 23,770,949 (GRCm39) missense probably damaging 1.00
IGL01353:Vnn1 APN 10 23,776,738 (GRCm39) missense probably damaging 1.00
IGL01774:Vnn1 APN 10 23,776,608 (GRCm39) missense probably benign 0.26
IGL01970:Vnn1 APN 10 23,773,300 (GRCm39) missense probably benign 0.06
IGL01985:Vnn1 APN 10 23,776,642 (GRCm39) missense probably benign 0.00
IGL02019:Vnn1 APN 10 23,779,449 (GRCm39) missense possibly damaging 0.69
IGL02198:Vnn1 APN 10 23,779,323 (GRCm39) missense probably benign 0.00
IGL02349:Vnn1 APN 10 23,774,401 (GRCm39) missense possibly damaging 0.91
IGL02738:Vnn1 APN 10 23,780,520 (GRCm39) missense probably benign 0.00
IGL03058:Vnn1 APN 10 23,780,442 (GRCm39) missense probably benign 0.06
R0008:Vnn1 UTSW 10 23,774,500 (GRCm39) critical splice donor site probably null
R0030:Vnn1 UTSW 10 23,776,744 (GRCm39) missense probably benign 0.08
R0508:Vnn1 UTSW 10 23,770,910 (GRCm39) missense probably benign 0.01
R0781:Vnn1 UTSW 10 23,775,499 (GRCm39) missense possibly damaging 0.46
R1110:Vnn1 UTSW 10 23,775,499 (GRCm39) missense possibly damaging 0.46
R1757:Vnn1 UTSW 10 23,776,727 (GRCm39) missense probably benign 0.00
R1757:Vnn1 UTSW 10 23,776,726 (GRCm39) missense possibly damaging 0.49
R1778:Vnn1 UTSW 10 23,775,415 (GRCm39) missense possibly damaging 0.67
R2011:Vnn1 UTSW 10 23,770,869 (GRCm39) nonsense probably null
R2055:Vnn1 UTSW 10 23,776,475 (GRCm39) splice site probably benign
R2158:Vnn1 UTSW 10 23,776,653 (GRCm39) nonsense probably null
R2186:Vnn1 UTSW 10 23,773,299 (GRCm39) missense probably benign 0.29
R4277:Vnn1 UTSW 10 23,774,410 (GRCm39) missense possibly damaging 0.89
R4279:Vnn1 UTSW 10 23,774,410 (GRCm39) missense possibly damaging 0.89
R4473:Vnn1 UTSW 10 23,770,789 (GRCm39) missense probably benign
R4590:Vnn1 UTSW 10 23,775,303 (GRCm39) missense possibly damaging 0.61
R4708:Vnn1 UTSW 10 23,773,250 (GRCm39) missense probably benign 0.01
R4794:Vnn1 UTSW 10 23,776,602 (GRCm39) missense probably benign 0.01
R5266:Vnn1 UTSW 10 23,779,303 (GRCm39) missense probably damaging 1.00
R5495:Vnn1 UTSW 10 23,774,462 (GRCm39) missense probably damaging 0.98
R6064:Vnn1 UTSW 10 23,770,807 (GRCm39) missense probably benign 0.05
R7081:Vnn1 UTSW 10 23,770,903 (GRCm39) missense possibly damaging 0.66
R7088:Vnn1 UTSW 10 23,776,645 (GRCm39) missense probably benign 0.00
R7221:Vnn1 UTSW 10 23,770,952 (GRCm39) missense probably benign 0.07
R7334:Vnn1 UTSW 10 23,776,658 (GRCm39) missense probably benign 0.04
R8784:Vnn1 UTSW 10 23,780,526 (GRCm39) missense probably benign
R8859:Vnn1 UTSW 10 23,780,484 (GRCm39) missense probably benign 0.01
R8926:Vnn1 UTSW 10 23,776,587 (GRCm39) missense probably benign 0.04
R8987:Vnn1 UTSW 10 23,776,714 (GRCm39) missense probably damaging 0.98
R9002:Vnn1 UTSW 10 23,775,349 (GRCm39) missense possibly damaging 0.82
R9091:Vnn1 UTSW 10 23,780,464 (GRCm39) missense probably damaging 1.00
R9270:Vnn1 UTSW 10 23,780,464 (GRCm39) missense probably damaging 1.00
R9276:Vnn1 UTSW 10 23,776,794 (GRCm39) missense probably damaging 1.00
R9453:Vnn1 UTSW 10 23,776,723 (GRCm39) missense probably damaging 0.96
R9557:Vnn1 UTSW 10 23,776,723 (GRCm39) missense probably damaging 0.96
Posted On 2012-12-06