Incidental Mutation 'R7304:Vwa3b'
ID 567138
Institutional Source Beutler Lab
Gene Symbol Vwa3b
Ensembl Gene ENSMUSG00000050122
Gene Name von Willebrand factor A domain containing 3B
Synonyms A230074B11Rik, 4921511C04Rik
MMRRC Submission 045365-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R7304 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 37068372-37226689 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37203586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 55 (L55S)
Ref Sequence ENSEMBL: ENSMUSP00000132886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027289] [ENSMUST00000169057]
AlphaFold A0A571BE33
Predicted Effect probably benign
Transcript: ENSMUST00000027289
SMART Domains Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122

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: ENSMUST00000169057
AA Change: L55S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
Allele List at MGI

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

Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,247,203 (GRCm39) S2317G probably benign Het
Acap2 A C 16: 30,926,934 (GRCm39) L502R probably benign Het
Amotl2 A G 9: 102,605,549 (GRCm39) E467G probably damaging Het
Apbb1ip A T 2: 22,743,147 (GRCm39) probably null Het
Armc9 C G 1: 86,090,437 (GRCm39) D77E probably benign Het
Art1 T A 7: 101,755,531 (GRCm39) S8T possibly damaging Het
Asic5 G A 3: 81,916,872 (GRCm39) A321T possibly damaging Het
Astn2 A G 4: 66,103,612 (GRCm39) I267T unknown Het
Bmp8a T C 4: 123,236,182 (GRCm39) N107S probably benign Het
Card14 T A 11: 119,228,573 (GRCm39) L633Q probably damaging Het
Chpf C T 1: 75,455,698 (GRCm39) V18M possibly damaging Het
Cog7 T C 7: 121,536,362 (GRCm39) I493V probably benign Het
Col3a1 A T 1: 45,386,971 (GRCm39) N1394I unknown Het
Crybg1 C T 10: 43,873,254 (GRCm39) D1285N probably benign Het
Depdc7 A G 2: 104,553,463 (GRCm39) V395A possibly damaging Het
Dido1 G A 2: 180,329,286 (GRCm39) L379F probably damaging Het
Dnajc13 G T 9: 104,115,713 (GRCm39) T32N probably benign Het
Dok2 T A 14: 71,013,468 (GRCm39) S133R probably benign Het
Ehbp1l1 C T 19: 5,766,410 (GRCm39) R1311H probably damaging Het
Gm3099 A T 14: 15,346,488 (GRCm39) N118I probably damaging Het
Gtse1 A G 15: 85,755,748 (GRCm39) T471A probably benign Het
Heg1 G A 16: 33,581,160 (GRCm39) A13T possibly damaging Het
Ifi209 A T 1: 173,470,156 (GRCm39) Y248F possibly damaging Het
Irag1 T C 7: 110,498,931 (GRCm39) T367A possibly damaging Het
Itgb3bp C G 4: 99,657,758 (GRCm39) E169Q probably damaging Het
Kcna2 A G 3: 107,012,066 (GRCm39) T216A probably benign Het
Kcnj6 A T 16: 94,742,042 (GRCm39) M10K probably benign Het
Krt17 T G 11: 100,148,163 (GRCm39) Q397P probably benign Het
Lrtm1 T A 14: 28,744,075 (GRCm39) M181K probably damaging Het
Map3k5 A G 10: 19,975,301 (GRCm39) H741R probably damaging Het
Mier1 T A 4: 102,996,599 (GRCm39) Y120* probably null Het
Myh14 T A 7: 44,279,415 (GRCm39) T922S probably benign Het
Nfkbie A T 17: 45,871,067 (GRCm39) I240F possibly damaging Het
Npas3 C A 12: 54,115,824 (GRCm39) H915Q probably damaging Het
Nrg2 A T 18: 36,178,994 (GRCm39) V314E probably benign Het
Or2z9 T A 8: 72,854,190 (GRCm39) Y195* probably null Het
Pds5a T C 5: 65,777,077 (GRCm39) N28S probably damaging Het
Pira1 T C 7: 3,740,493 (GRCm39) T243A probably damaging Het
Pkhd1l1 A T 15: 44,361,878 (GRCm39) N517I possibly damaging Het
Plekhb1 T C 7: 100,294,874 (GRCm39) Y99C probably benign Het
Plpp6 T C 19: 28,941,617 (GRCm39) S73P probably benign Het
Polb T C 8: 23,129,975 (GRCm39) N199S probably benign Het
Ppp1r13b T C 12: 111,838,840 (GRCm39) N13D possibly damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Ptprn2 T A 12: 117,212,164 (GRCm39) V862D probably damaging Het
Rassf4 T C 6: 116,617,278 (GRCm39) I242M probably damaging Het
Rnf19a G A 15: 36,254,598 (GRCm39) T320I probably damaging Het
Sctr A T 1: 119,949,970 (GRCm39) E53V probably damaging Het
Srcin1 T C 11: 97,442,519 (GRCm39) D103G probably benign Het
St3gal3 T C 4: 117,814,633 (GRCm39) Q220R Het
Stk40 G A 4: 126,019,483 (GRCm39) E86K probably benign Het
Tas2r104 T A 6: 131,662,005 (GRCm39) I235F possibly damaging Het
Terf2ip T C 8: 112,738,280 (GRCm39) V56A possibly damaging Het
Thsd7b A G 1: 130,030,890 (GRCm39) N1075S probably benign Het
Trak1 A G 9: 121,245,278 (GRCm39) Y51C probably benign Het
Trav16n T A 14: 53,588,859 (GRCm39) V45E probably benign Het
Ttc6 T C 12: 57,622,837 (GRCm39) S79P probably damaging Het
Unc79 C T 12: 103,029,449 (GRCm39) T484M probably damaging Het
Usp49 T C 17: 47,983,796 (GRCm39) V267A possibly damaging Het
Vldlr T A 19: 27,216,004 (GRCm39) D305E possibly damaging Het
Vmn1r226 G T 17: 20,908,011 (GRCm39) C81F probably damaging Het
Vmn1r73 T C 7: 11,490,824 (GRCm39) V214A probably damaging Het
Vmn2r5 T C 3: 64,411,671 (GRCm39) N299S probably damaging Het
Wdr90 T C 17: 26,070,480 (GRCm39) D1105G probably benign Het
Zbtb38 A G 9: 96,569,480 (GRCm39) S535P probably damaging Het
Zfp329 T C 7: 12,544,826 (GRCm39) I233V probably damaging Het
Zfp579 T A 7: 4,997,582 (GRCm39) T110S probably benign 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
R5286:Vwa3b UTSW 1 37,084,120 (GRCm39) missense probably damaging 1.00
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
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'- GTGTGCCTATGTGACCTCTAAG -3'
(R):5'- AGAACCTCTGGAGAGCACAC -3'

Sequencing Primer
(F):5'- CCATTTAGGGGTCACAAATCAG -3'
(R):5'- GACAGACTCAGAAGTGCTACTTGTC -3'
Posted On 2019-06-26