Incidental Mutation 'R5286:Vwa3b'
ID 424331
Institutional Source Beutler Lab
Gene Symbol Vwa3b
Ensembl Gene ENSMUSG00000050122
Gene Name von Willebrand factor A domain containing 3B
Synonyms A230074B11Rik, 4921511C04Rik
MMRRC Submission 042870-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5286 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 37068372-37226689 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37084120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 98 (W98R)
Ref Sequence ENSEMBL: ENSMUSP00000125460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027289] [ENSMUST00000067178] [ENSMUST00000117172] [ENSMUST00000124404] [ENSMUST00000162449]
AlphaFold A0A571BE33
Predicted Effect probably damaging
Transcript: ENSMUST00000027289
AA Change: W98R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: W98R

DomainStartEndE-ValueType
Pfam:DUF4537 159 285 9.1e-36 PFAM
low complexity region 327 336 N/A INTRINSIC
low complexity region 345 364 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000067178
AA Change: W98R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069700
Gene: ENSMUSG00000050122
AA Change: W98R

DomainStartEndE-ValueType
Blast:VWA 112 272 7e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000117172
AA Change: W98R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114022
Gene: ENSMUSG00000050122
AA Change: W98R

DomainStartEndE-ValueType
Blast:VWA 112 272 7e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000124404
AA Change: W98R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141690
Gene: ENSMUSG00000050122
AA Change: W98R

DomainStartEndE-ValueType
Blast:VWA 112 272 5e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000162449
AA Change: W98R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125460
Gene: ENSMUSG00000050122
AA Change: W98R

DomainStartEndE-ValueType
Blast:VWA 112 272 7e-16 BLAST
Meta Mutation Damage Score 0.5372 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (64/64)
Allele List at MGI

All alleles(71) : Targeted(3) Gene trapped(68)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 T C 5: 121,742,358 (GRCm39) I417V probably benign Het
Adad1 T C 3: 37,119,399 (GRCm39) V160A possibly damaging Het
Adcy7 A G 8: 89,051,487 (GRCm39) E869G probably damaging Het
Birc6 G A 17: 74,977,242 (GRCm39) A4352T probably damaging Het
Brd2 T A 17: 34,334,205 (GRCm39) T286S probably damaging Het
Bsn G T 9: 107,988,123 (GRCm39) probably benign Het
Cables1 A G 18: 12,057,884 (GRCm39) T335A probably benign Het
Cacna1d A T 14: 30,072,682 (GRCm39) S98T possibly damaging Het
Ccdc181 A G 1: 164,105,810 (GRCm39) Y15C probably damaging Het
Dlgap4 T G 2: 156,587,839 (GRCm39) V39G probably damaging Het
Epb41l3 G A 17: 69,569,268 (GRCm39) R504H probably benign Het
Fbxo7 T C 10: 85,857,954 (GRCm39) L23P probably damaging Het
Gm42791 A C 5: 148,887,178 (GRCm39) probably benign Het
Gprc5b A T 7: 118,582,910 (GRCm39) F320I possibly damaging Het
Gtf3c1 G A 7: 125,262,580 (GRCm39) T1093M possibly damaging Het
Hddc3 G T 7: 79,993,543 (GRCm39) R83L probably damaging Het
Iars2 T C 1: 185,055,318 (GRCm39) probably benign Het
Ift25 T A 4: 107,136,998 (GRCm39) I132N probably damaging Het
Igfn1 T C 1: 135,895,599 (GRCm39) K1656E probably benign Het
Itk A C 11: 46,228,926 (GRCm39) probably null Het
Klra6 G A 6: 129,995,932 (GRCm39) T142I probably benign Het
Knop1 C T 7: 118,454,993 (GRCm39) A3T probably damaging Het
Lamc3 A G 2: 31,808,608 (GRCm39) H788R probably damaging Het
Lrif1 A G 3: 106,639,859 (GRCm39) R315G probably damaging Het
Mfap3l A G 8: 61,109,903 (GRCm39) D93G probably benign Het
Ngef T C 1: 87,473,552 (GRCm39) S77G probably benign Het
Nt5dc3 T C 10: 86,640,656 (GRCm39) S13P probably benign Het
Or9s13 T C 1: 92,548,084 (GRCm39) V152A probably benign Het
Pclo T C 5: 14,729,761 (GRCm39) probably benign Het
Pkhd1l1 C T 15: 44,378,368 (GRCm39) Q1041* probably null Het
Ppl G A 16: 4,906,987 (GRCm39) R1103* probably null Het
Ppp4r3b T A 11: 29,161,667 (GRCm39) D680E probably benign Het
Rasgrf2 T G 13: 92,267,941 (GRCm39) K21T possibly damaging Het
Rev1 T A 1: 38,094,407 (GRCm39) K1004* probably null Het
Rgs9 T G 11: 109,130,277 (GRCm39) probably null Het
Rnf31 T C 14: 55,829,693 (GRCm39) L86P probably damaging Het
Rps13 A G 7: 115,933,155 (GRCm39) Y18H probably damaging Het
Rxfp2 T C 5: 149,958,909 (GRCm39) F33S probably damaging Het
Sfmbt1 G A 14: 30,538,777 (GRCm39) V799M probably damaging Het
Stard9 T A 2: 120,532,428 (GRCm39) V2895D probably benign Het
Syn3 T C 10: 86,187,428 (GRCm39) N232S possibly damaging Het
Taok3 T A 5: 117,404,140 (GRCm39) Y772N probably damaging Het
Tspan4 A G 7: 141,062,483 (GRCm39) probably null Het
Ttn C A 2: 76,684,530 (GRCm39) probably benign Het
Vwa5b2 A T 16: 20,415,058 (GRCm39) D360V probably damaging Het
Wdr73 A T 7: 80,541,557 (GRCm39) D328E probably benign Het
Xpo5 A G 17: 46,545,406 (GRCm39) N824S probably benign Het
Zbtb2 C T 10: 4,318,566 (GRCm39) G487S possibly damaging Het
Other mutations in Vwa3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Vwa3b APN 1 37,193,117 (GRCm39) missense probably benign 0.28
IGL02236:Vwa3b APN 1 37,193,132 (GRCm39) splice site probably benign
IGL02653:Vwa3b APN 1 37,214,646 (GRCm39) utr 3 prime probably benign
IGL02823:Vwa3b APN 1 37,225,985 (GRCm39) utr 3 prime probably benign
IGL03030:Vwa3b APN 1 37,084,049 (GRCm39) missense probably damaging 1.00
P0014:Vwa3b UTSW 1 37,212,995 (GRCm39) utr 3 prime probably benign
R0035:Vwa3b UTSW 1 37,204,770 (GRCm39) missense possibly damaging 0.69
R0102:Vwa3b UTSW 1 37,174,595 (GRCm39) missense probably damaging 1.00
R0556:Vwa3b UTSW 1 37,203,566 (GRCm39) splice site probably benign
R1061:Vwa3b UTSW 1 37,196,511 (GRCm39) missense probably damaging 1.00
R1386:Vwa3b UTSW 1 37,090,962 (GRCm39) critical splice donor site probably null
R2441:Vwa3b UTSW 1 37,182,150 (GRCm39) unclassified probably benign
R3117:Vwa3b UTSW 1 37,148,158 (GRCm39) missense possibly damaging 0.95
R3119:Vwa3b UTSW 1 37,148,158 (GRCm39) missense possibly damaging 0.95
R4081:Vwa3b UTSW 1 37,074,905 (GRCm39) missense probably damaging 0.99
R4393:Vwa3b UTSW 1 37,084,259 (GRCm39) missense probably damaging 1.00
R4897:Vwa3b UTSW 1 37,153,684 (GRCm39) splice site probably benign
R4950:Vwa3b UTSW 1 37,124,413 (GRCm39) missense probably benign 0.00
R4978:Vwa3b UTSW 1 37,154,752 (GRCm39) missense probably damaging 0.99
R5141:Vwa3b UTSW 1 37,226,102 (GRCm39) utr 3 prime probably benign
R5356:Vwa3b UTSW 1 37,153,664 (GRCm39) missense probably damaging 0.99
R5426:Vwa3b UTSW 1 37,154,752 (GRCm39) missense probably damaging 0.99
R5480:Vwa3b UTSW 1 37,139,787 (GRCm39) nonsense probably null
R5727:Vwa3b UTSW 1 37,174,600 (GRCm39) missense probably benign 0.10
R5876:Vwa3b UTSW 1 37,115,520 (GRCm39) missense probably damaging 0.97
R6191:Vwa3b UTSW 1 37,153,612 (GRCm39) missense possibly damaging 0.92
R6219:Vwa3b UTSW 1 37,139,779 (GRCm39) missense possibly damaging 0.92
R6250:Vwa3b UTSW 1 37,090,966 (GRCm39) splice site probably null
R6281:Vwa3b UTSW 1 37,163,063 (GRCm39) missense probably damaging 1.00
R6419:Vwa3b UTSW 1 37,196,457 (GRCm39) missense probably benign 0.01
R6467:Vwa3b UTSW 1 37,124,367 (GRCm39) missense probably benign 0.01
R6512:Vwa3b UTSW 1 37,102,723 (GRCm39) intron probably benign
R6541:Vwa3b UTSW 1 37,090,842 (GRCm39) missense probably damaging 1.00
R6724:Vwa3b UTSW 1 37,084,112 (GRCm39) missense probably damaging 1.00
R6728:Vwa3b UTSW 1 37,196,453 (GRCm39) missense probably damaging 1.00
R7046:Vwa3b UTSW 1 37,212,959 (GRCm39) missense probably benign
R7117:Vwa3b UTSW 1 37,174,634 (GRCm39) missense
R7304:Vwa3b UTSW 1 37,203,586 (GRCm39) missense probably damaging 1.00
R7402:Vwa3b UTSW 1 37,153,678 (GRCm39) nonsense probably null
R7762:Vwa3b UTSW 1 37,163,126 (GRCm39) missense probably damaging 1.00
R7911:Vwa3b UTSW 1 37,193,107 (GRCm39) missense probably damaging 1.00
R8213:Vwa3b UTSW 1 37,168,020 (GRCm39) missense probably benign 0.07
R8402:Vwa3b UTSW 1 37,204,879 (GRCm39) missense probably damaging 1.00
R8697:Vwa3b UTSW 1 37,115,461 (GRCm39) missense probably benign 0.09
R8758:Vwa3b UTSW 1 37,176,873 (GRCm39) missense
R8874:Vwa3b UTSW 1 37,074,839 (GRCm39) missense possibly damaging 0.73
R9011:Vwa3b UTSW 1 37,154,767 (GRCm39) missense probably damaging 1.00
R9012:Vwa3b UTSW 1 37,124,391 (GRCm39) missense probably benign 0.15
R9015:Vwa3b UTSW 1 37,203,597 (GRCm39) missense possibly damaging 0.71
R9102:Vwa3b UTSW 1 37,174,593 (GRCm39) start codon destroyed probably null
R9263:Vwa3b UTSW 1 37,099,493 (GRCm39) missense probably benign 0.43
R9277:Vwa3b UTSW 1 37,196,534 (GRCm39) critical splice donor site probably null
R9294:Vwa3b UTSW 1 37,074,882 (GRCm39) missense probably damaging 0.99
R9341:Vwa3b UTSW 1 37,153,615 (GRCm39) missense probably damaging 1.00
R9343:Vwa3b UTSW 1 37,153,615 (GRCm39) missense probably damaging 1.00
R9502:Vwa3b UTSW 1 37,099,520 (GRCm39) missense probably damaging 0.99
R9758:Vwa3b UTSW 1 37,081,438 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGCTGTATCACCGGAACTG -3'
(R):5'- AGCCTAACTGTGTTAACTCGG -3'

Sequencing Primer
(F):5'- TGTATCACCGGAACTGAGGCC -3'
(R):5'- GCCTAACTGTGTTAACTCGGAAGATG -3'
Posted On 2016-08-04