Incidental Mutation 'R5471:Vash1'
ID433831
Institutional Source Beutler Lab
Gene Symbol Vash1
Ensembl Gene ENSMUSG00000021256
Gene Namevasohibin 1
SynonymsD930046M13Rik, G630009D10Rik
MMRRC Submission 043032-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.248) question?
Stock #R5471 (G1)
Quality Score174
Status Validated
Chromosome12
Chromosomal Location86678700-86692091 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 86689128 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 263 (V263M)
Ref Sequence ENSEMBL: ENSMUSP00000021681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021681]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021681
AA Change: V263M

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021681
Gene: ENSMUSG00000021256
AA Change: V263M

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
low complexity region 19 33 N/A INTRINSIC
low complexity region 52 67 N/A INTRINSIC
Pfam:Vasohibin 68 312 3.2e-122 PFAM
Meta Mutation Damage Score 0.0618 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.5%
Validation Efficiency 96% (67/70)
MGI Phenotype PHENOTYPE: Homozygous null mice have defects in terminating angiogenesis that occurs near wounds. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 C T 7: 119,660,606 H493Y probably damaging Het
Alox12e T C 11: 70,320,024 I290V probably benign Het
Ankfy1 T A 11: 72,728,791 N163K probably benign Het
Baiap2l1 T G 5: 144,282,141 N219T probably benign Het
Cd72 T C 4: 43,448,345 I312V probably benign Het
Cfap54 A T 10: 93,028,660 M139K probably damaging Het
Clec4n T A 6: 123,232,186 M70K probably benign Het
Cwh43 T A 5: 73,408,231 C46* probably null Het
Cyp1a2 A T 9: 57,679,020 I405N probably damaging Het
Dlc1 G T 8: 36,584,725 S617R probably benign Het
Eif2ak4 A G 2: 118,474,132 N1546S probably benign Het
Elmo1 A G 13: 20,572,385 I548V probably benign Het
Exoc6 A G 19: 37,599,617 D566G probably benign Het
Fam20b T C 1: 156,705,729 T106A probably damaging Het
Fam83h T C 15: 76,002,903 T862A probably benign Het
Fgfr1op2 A T 6: 146,597,362 probably null Het
Gcnt2 A G 13: 40,860,719 Y122C probably damaging Het
Gm11992 A T 11: 9,068,333 probably null Het
Gm15922 T A 7: 3,735,515 I621F probably benign Het
Gm5114 C A 7: 39,409,110 E362* probably null Het
Gm815 A G 19: 26,888,369 T96A unknown Het
Gm8674 A G 13: 49,900,813 noncoding transcript Het
Gnat3 T A 5: 17,991,324 I56N probably damaging Het
Gpr1 A C 1: 63,183,899 V59G probably damaging Het
Igkv1-133 T C 6: 67,725,547 V83A probably benign Het
Mrgprb8 T A 7: 48,388,723 N47K probably damaging Het
Nav2 A G 7: 49,548,169 D1182G probably damaging Het
Neto2 T C 8: 85,640,760 T480A probably benign Het
Npnt T G 3: 132,914,387 N115T probably benign Het
Nr1h5 T C 3: 102,949,126 N279S possibly damaging Het
Ntrk2 T C 13: 58,871,760 V395A probably benign Het
Olfr205 T G 16: 59,328,631 N293H probably damaging Het
Olfr319 T C 11: 58,702,325 L208S probably damaging Het
Olfr802 A G 10: 129,682,056 S228P probably damaging Het
Padi2 A G 4: 140,933,208 K333R possibly damaging Het
Ptgis C A 2: 167,224,119 M130I probably benign Het
Ptpn4 A T 1: 119,765,919 Y124* probably null Het
Saal1 C T 7: 46,699,648 V281M probably benign Het
Saxo1 G A 4: 86,445,724 T174I probably damaging Het
Slc7a12 G A 3: 14,480,875 V27M probably damaging Het
Slco4c1 C A 1: 96,872,045 R22L probably benign Het
Slfn9 T G 11: 82,982,787 Q430P possibly damaging Het
Slit2 T A 5: 48,189,555 N246K probably damaging Het
Stox2 G T 8: 47,193,513 T304K probably damaging Het
Tmem87b T G 2: 128,851,320 F542V possibly damaging Het
Topaz1 T G 9: 122,791,416 probably null Het
Trappc12 G A 12: 28,691,500 R737W probably damaging Het
Trim9 A G 12: 70,346,792 I126T possibly damaging Het
Txnl1 A G 18: 63,676,926 C149R probably damaging Het
Ubald1 G A 16: 4,875,841 T70M probably damaging Het
Vsx1 T C 2: 150,683,066 T343A probably benign Het
Zfp397 A G 18: 23,960,024 N189D probably benign Het
Other mutations in Vash1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Vash1 APN 12 86680268 missense possibly damaging 0.94
R2289:Vash1 UTSW 12 86680178 missense probably damaging 0.98
R3015:Vash1 UTSW 12 86685420 missense probably benign 0.01
R4896:Vash1 UTSW 12 86680142 missense probably benign 0.04
R5540:Vash1 UTSW 12 86680057 small deletion probably benign
R6684:Vash1 UTSW 12 86688909 missense probably damaging 0.99
R7714:Vash1 UTSW 12 86691840 missense probably benign 0.02
R7767:Vash1 UTSW 12 86686993 missense probably damaging 0.98
R7976:Vash1 UTSW 12 86679984 start gained probably benign
R8411:Vash1 UTSW 12 86680178 missense possibly damaging 0.93
R8692:Vash1 UTSW 12 86689089 missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TTCCCATCAGCTTCAAGACC -3'
(R):5'- TCCCATGAGAAAGCTGCAGC -3'

Sequencing Primer
(F):5'- GCTTCAAGACCTATTTCTCAGGGAAC -3'
(R):5'- TGAAAGCACCGGTCTCGTG -3'
Posted On2016-10-06