Incidental Mutation 'R6219:Vwa3b'
ID 503882
Institutional Source Beutler Lab
Gene Symbol Vwa3b
Ensembl Gene ENSMUSG00000050122
Gene Name von Willebrand factor A domain containing 3B
Synonyms A230074B11Rik, 4921511C04Rik
MMRRC Submission 044351-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6219 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 37068372-37226689 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37139779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 367 (Q367K)
Ref Sequence ENSEMBL: ENSMUSP00000027289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027289]
AlphaFold A0A571BE33
Predicted Effect possibly damaging
Transcript: ENSMUST00000027289
AA Change: Q367K

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: Q367K

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 noncoding transcript
Transcript: ENSMUST00000194048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194890
Meta Mutation Damage Score 0.2080 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (42/42)
Allele List at MGI

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

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030445D17Rik T C 4: 136,190,059 (GRCm39) S147P unknown Het
Acat2 T C 17: 13,179,604 (GRCm39) probably benign Het
Ano2 A G 6: 125,792,553 (GRCm39) D349G probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ccnf C A 17: 24,445,678 (GRCm39) E523* probably null Het
Ccr10 C T 11: 101,065,375 (GRCm39) A52T possibly damaging Het
Cdc14b C T 13: 64,353,338 (GRCm39) probably benign Het
Cirop G T 14: 54,933,116 (GRCm39) Q356K noncoding transcript Het
Cmya5 T C 13: 93,230,951 (GRCm39) E1379G probably damaging Het
Cyfip1 A G 7: 55,558,189 (GRCm39) D822G possibly damaging Het
Cyp4a29 A C 4: 115,106,927 (GRCm39) T195P probably damaging Het
Dmxl1 A T 18: 50,035,434 (GRCm39) T2283S probably damaging Het
Dnah7b A G 1: 46,272,745 (GRCm39) D2291G probably benign Het
Dock3 T A 9: 106,872,080 (GRCm39) L493F probably damaging Het
Fbxw7 G A 3: 84,876,520 (GRCm39) G227D probably damaging Het
Fmo2 A T 1: 162,708,085 (GRCm39) V350D probably damaging Het
Glis1 C T 4: 107,489,102 (GRCm39) P487S probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm35315 G T 5: 110,226,410 (GRCm39) T343K probably benign Het
Gpr141 A G 13: 19,936,697 (GRCm39) I26T probably benign Het
Hectd4 T G 5: 121,446,941 (GRCm39) V311G possibly damaging Het
Ino80d C T 1: 63,118,206 (GRCm39) E322K possibly damaging Het
Irs2 A G 8: 11,055,121 (GRCm39) S1104P probably damaging Het
Lama1 T C 17: 68,097,851 (GRCm39) F1744L probably benign Het
Lcn10 A T 2: 25,573,587 (GRCm39) R55* probably null Het
Lrp2 A T 2: 69,299,822 (GRCm39) C3077S probably damaging Het
Mdc1 T A 17: 36,161,566 (GRCm39) S826R probably benign Het
Nr2c1 G T 10: 93,999,648 (GRCm39) V103L probably benign Het
Nup133 A T 8: 124,663,612 (GRCm39) D310E possibly damaging Het
Or7c70 A G 10: 78,683,093 (GRCm39) S219P possibly damaging Het
Pip5k1b T A 19: 24,359,187 (GRCm39) E112D probably damaging Het
Pira12 A T 7: 3,897,640 (GRCm39) V485E probably damaging Het
Reln T C 5: 22,153,594 (GRCm39) K2237E probably damaging Het
Sirt2 A G 7: 28,466,940 (GRCm39) probably benign Het
Slit2 A T 5: 48,459,770 (GRCm39) H1350L possibly damaging Het
Snx15 A G 19: 6,171,538 (GRCm39) S179P probably damaging Het
Sp8 T G 12: 118,812,402 (GRCm39) S86A probably benign Het
Sptbn5 T C 2: 119,907,803 (GRCm39) probably benign Het
Tfap4 A G 16: 4,365,175 (GRCm39) S196P probably damaging Het
Tgm3 T C 2: 129,880,530 (GRCm39) probably null Het
Tnks2 T C 19: 36,843,604 (GRCm39) probably benign Het
Ttll11 A T 2: 35,642,511 (GRCm39) probably null Het
Zdhhc20 A T 14: 58,078,340 (GRCm39) V312E probably 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
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
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'- GAGCCCTGCTGTAGTTCATTCC -3'
(R):5'- TGATCCAAAGGAGGCCTTGC -3'

Sequencing Primer
(F):5'- CCTGCTGTAGTTCATTCCTGAAGG -3'
(R):5'- TGCTGCCCACCTCAGAC -3'
Posted On 2018-02-27