Incidental Mutation 'IGL02345:Vash2'
ID289230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vash2
Ensembl Gene ENSMUSG00000037568
Gene Namevasohibin 2
SynonymsB130052G07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02345
Quality Score
Status
Chromosome1
Chromosomal Location190947646-190979296 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 190978215 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 81 (V81A)
Ref Sequence ENSEMBL: ENSMUSP00000127626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047409] [ENSMUST00000166139]
Predicted Effect probably benign
Transcript: ENSMUST00000047409
AA Change: V81A

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000036768
Gene: ENSMUSG00000037568
AA Change: V81A

DomainStartEndE-ValueType
Pfam:Vasohibin 45 291 7e-124 PFAM
low complexity region 312 329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166139
AA Change: V81A

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000127626
Gene: ENSMUSG00000037568
AA Change: V81A

DomainStartEndE-ValueType
low complexity region 35 46 N/A INTRINSIC
Pfam:Vasohibin 47 291 1.1e-124 PFAM
low complexity region 312 329 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192306
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice have defects in initiating angiogenesis in response to skin wounding. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G T 16: 14,396,351 D177Y possibly damaging Het
Casc3 T C 11: 98,827,564 probably benign Het
Cnga1 C T 5: 72,605,272 V300I probably benign Het
Dcun1d4 A G 5: 73,511,152 D41G probably damaging Het
Dnm1l T C 16: 16,329,894 S181G possibly damaging Het
Dyrk1a T G 16: 94,671,362 S242A possibly damaging Het
Fcgbp T A 7: 28,071,643 probably benign Het
Fibcd1 T C 2: 31,816,592 Y409C probably damaging Het
Fig4 A T 10: 41,267,774 W230R probably null Het
Flt1 T C 5: 147,582,626 S960G probably benign Het
Fyb A G 15: 6,619,662 S390G possibly damaging Het
Gbx2 T C 1: 89,928,976 T231A probably benign Het
Gm16432 G A 1: 178,015,188 V60I possibly damaging Het
Gm5852 T A 3: 93,727,748 noncoding transcript Het
Lmo7 T C 14: 101,887,473 V456A probably damaging Het
Mark3 A G 12: 111,627,107 N191S probably damaging Het
Olfr871 C A 9: 20,213,018 S223Y possibly damaging Het
Pik3c2a C T 7: 116,405,891 E381K probably damaging Het
Pik3r5 A G 11: 68,492,726 D457G probably benign Het
Plcg2 T C 8: 117,585,180 S404P probably damaging Het
Prr16 T C 18: 51,303,229 F260S probably damaging Het
Psd4 T C 2: 24,401,823 probably null Het
Ptgs1 A G 2: 36,242,971 D327G probably null Het
Rgsl1 C T 1: 153,804,009 probably null Het
Spg20 T A 3: 55,117,726 probably null Het
Sugp1 A G 8: 70,043,084 probably benign Het
Tubgcp3 A T 8: 12,625,056 I713N probably damaging Het
Usp19 A G 9: 108,493,858 T240A probably benign Het
Vmn2r41 T G 7: 8,138,768 N566H probably damaging Het
Wdr31 A G 4: 62,458,846 I42T possibly damaging Het
Zfp292 C T 4: 34,809,244 V1272I possibly damaging Het
Zfp638 C T 6: 83,984,875 R1899C probably damaging Het
Other mutations in Vash2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0507:Vash2 UTSW 1 190966918 splice site probably benign
R2265:Vash2 UTSW 1 190950213 missense probably damaging 0.97
R3615:Vash2 UTSW 1 190970419 missense probably damaging 1.00
R3616:Vash2 UTSW 1 190970419 missense probably damaging 1.00
R4610:Vash2 UTSW 1 190960301 missense probably benign 0.04
R4844:Vash2 UTSW 1 190978494 utr 5 prime probably benign
R5569:Vash2 UTSW 1 190960291 missense possibly damaging 0.65
R6282:Vash2 UTSW 1 190960225 missense probably benign 0.11
R6312:Vash2 UTSW 1 190958683 missense probably benign 0.29
R6468:Vash2 UTSW 1 190978287 missense probably damaging 1.00
R7362:Vash2 UTSW 1 190960299 missense probably damaging 1.00
X0021:Vash2 UTSW 1 190960444 missense probably damaging 1.00
Posted On2015-04-16