Incidental Mutation 'R4628:Vwa3a'
ID 348953
Institutional Source Beutler Lab
Gene Symbol Vwa3a
Ensembl Gene ENSMUSG00000030889
Gene Name von Willebrand factor A domain containing 3A
Synonyms E030013G06Rik
MMRRC Submission 041893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4628 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 120338541-120404965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120392598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 812 (N812K)
Ref Sequence ENSEMBL: ENSMUSP00000133029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033180] [ENSMUST00000165055] [ENSMUST00000166668] [ENSMUST00000167213] [ENSMUST00000168430] [ENSMUST00000168600]
AlphaFold Q3UVV9
Predicted Effect probably benign
Transcript: ENSMUST00000033180
AA Change: N812K

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: N812K

DomainStartEndE-ValueType
Pfam:VWA_3 142 297 6.3e-30 PFAM
Pfam:VWA_3 483 634 1.2e-17 PFAM
VWA 921 1092 1.89e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165055
SMART Domains Protein: ENSMUSP00000129672
Gene: ENSMUSG00000030889

DomainStartEndE-ValueType
Blast:VWA 1 162 1e-94 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000166083
Predicted Effect probably benign
Transcript: ENSMUST00000166668
AA Change: N812K

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: N812K

DomainStartEndE-ValueType
Pfam:VWA_3 142 297 1.3e-28 PFAM
Pfam:VWA_3 483 633 5.2e-17 PFAM
VWA 921 1092 1.89e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167213
AA Change: N812K

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: N812K

DomainStartEndE-ValueType
Pfam:VWA_3 142 297 1.3e-28 PFAM
Pfam:VWA_3 483 633 5.2e-17 PFAM
VWA 921 1092 1.89e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168430
Predicted Effect probably benign
Transcript: ENSMUST00000168600
SMART Domains Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889

DomainStartEndE-ValueType
Pfam:VWA_3 142 297 8.3e-29 PFAM
Pfam:VWA_3 483 609 5.3e-17 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,851,022 (GRCm39) probably null Het
Abcb4 A G 5: 8,957,399 (GRCm39) D176G probably benign Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd12 T C 17: 66,292,989 (GRCm39) T815A probably benign Het
Arid3a T C 10: 79,766,992 (GRCm39) S89P possibly damaging Het
Ass1 A T 2: 31,371,000 (GRCm39) D63V probably damaging Het
Atxn3 T A 12: 101,889,337 (GRCm39) probably benign Het
Bcap29 C T 12: 31,676,806 (GRCm39) S88N probably benign Het
Bsn G T 9: 107,990,434 (GRCm39) P1773T probably damaging Het
Ccdc141 A G 2: 76,890,024 (GRCm39) S423P probably benign Het
Cfap46 A T 7: 139,260,843 (GRCm39) L85Q probably damaging Het
Chd8 T C 14: 52,444,372 (GRCm39) R438G probably benign Het
Chd9 T A 8: 91,710,091 (GRCm39) M289K probably benign Het
Col14a1 T A 15: 55,313,229 (GRCm39) Y26* probably null Het
Colec10 A G 15: 54,323,127 (GRCm39) T117A possibly damaging Het
Colq C A 14: 31,265,979 (GRCm39) G178V probably damaging Het
Defb3 A T 8: 19,345,156 (GRCm39) R37S probably benign Het
Duox1 A G 2: 122,176,733 (GRCm39) Y1418C probably damaging Het
Engase C T 11: 118,375,731 (GRCm39) S33F probably damaging Het
Erich3 A T 3: 154,469,324 (GRCm39) T1259S probably damaging Het
Fam98c T C 7: 28,854,693 (GRCm39) T49A possibly damaging Het
Fhod3 T A 18: 25,253,186 (GRCm39) F1379I possibly damaging Het
Fndc3b T C 3: 27,610,277 (GRCm39) I86V probably benign Het
Gm1123 A G 9: 98,896,289 (GRCm39) V197A probably damaging Het
Gm4847 A T 1: 166,457,964 (GRCm39) V463E probably damaging Het
Gm9772 T C 17: 22,226,188 (GRCm39) K32R probably damaging Het
Gm9804 T C 12: 49,448,540 (GRCm39) S161P unknown Het
Gpr162 C T 6: 124,838,405 (GRCm39) D82N probably benign Het
Grid2ip T C 5: 143,368,630 (GRCm39) V650A probably damaging Het
Hs1bp3 T C 12: 8,386,357 (GRCm39) V253A probably benign Het
Hsd3b6 T G 3: 98,713,895 (GRCm39) K135Q possibly damaging Het
Igfn1 T C 1: 135,887,468 (GRCm39) D2532G possibly damaging Het
Iqgap2 A G 13: 95,899,837 (GRCm39) Y74H probably benign Het
Itga2 A G 13: 115,014,229 (GRCm39) V233A probably benign Het
Kat14 A G 2: 144,246,140 (GRCm39) probably benign Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Kera A G 10: 97,445,493 (GRCm39) N284S probably benign Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lcmt1 T A 7: 123,010,035 (GRCm39) C183* probably null Het
Lcn5 A G 2: 25,548,075 (GRCm39) E28G possibly damaging Het
Leo1 A T 9: 75,352,979 (GRCm39) D174V probably damaging Het
Llgl1 A T 11: 60,600,811 (GRCm39) T636S probably damaging Het
Lrrc8e T A 8: 4,283,981 (GRCm39) C69S probably damaging Het
Maml3 A T 3: 51,703,891 (GRCm39) probably benign Het
Maz G T 7: 126,624,519 (GRCm39) H334N possibly damaging Het
Mcm6 T C 1: 128,279,285 (GRCm39) D167G probably benign Het
Mrpl24 A C 3: 87,829,436 (GRCm39) probably null Het
Myo18a G A 11: 77,714,962 (GRCm39) V834M probably damaging Het
Neb T A 2: 52,198,362 (GRCm39) R461* probably null Het
Notch4 C A 17: 34,789,159 (GRCm39) T486N probably damaging Het
Nphp3 A G 9: 103,880,257 (GRCm39) E93G probably damaging Het
Nup188 A G 2: 30,219,358 (GRCm39) Y858C probably damaging Het
Or13a17 T A 7: 140,271,291 (GRCm39) S158T probably benign Het
Or13a28 C T 7: 140,218,297 (GRCm39) R228C probably benign Het
Or1j11 T A 2: 36,311,869 (GRCm39) L153* probably null Het
Otud4 T A 8: 80,366,597 (GRCm39) D21E possibly damaging Het
Ovgp1 T A 3: 105,887,639 (GRCm39) probably null Het
Pdia3 A T 2: 121,244,620 (GRCm39) N11I possibly damaging Het
Pex5 T C 6: 124,380,079 (GRCm39) D286G possibly damaging Het
Pias3 T C 3: 96,607,136 (GRCm39) I133T probably damaging Het
Postn A G 3: 54,279,578 (GRCm39) D352G probably damaging Het
Prl7c1 T C 13: 27,962,065 (GRCm39) R81G probably benign Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Rtraf T A 14: 19,867,155 (GRCm39) N116I probably benign Het
Semp2l2a T A 8: 13,886,625 (GRCm39) R489W probably damaging Het
Slc6a12 T A 6: 121,328,951 (GRCm39) C50* probably null Het
Spring1 G C 5: 118,397,479 (GRCm39) A154P probably damaging Het
Srcin1 T A 11: 97,439,752 (GRCm39) H126L probably benign Het
Tmtc2 A T 10: 105,139,511 (GRCm39) S672T probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Uroc1 A T 6: 90,332,310 (GRCm39) I556F probably damaging Het
Vmn1r124 T A 7: 20,994,302 (GRCm39) K81* probably null Het
Vmn1r57 T A 7: 5,223,972 (GRCm39) C166S probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r68 A G 7: 84,883,673 (GRCm39) V144A probably benign Het
Vmn2r85 C T 10: 130,261,235 (GRCm39) M367I probably benign Het
Wdfy4 A T 14: 32,824,515 (GRCm39) N1301K probably damaging Het
Zfhx4 G A 3: 5,468,536 (GRCm39) R2898H probably damaging Het
Other mutations in Vwa3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01584:Vwa3a APN 7 120,383,197 (GRCm39) missense probably benign 0.09
IGL01807:Vwa3a APN 7 120,374,729 (GRCm39) splice site probably null
IGL02850:Vwa3a APN 7 120,372,515 (GRCm39) missense probably benign 0.00
IGL03253:Vwa3a APN 7 120,378,092 (GRCm39) missense probably benign 0.03
PIT4812001:Vwa3a UTSW 7 120,375,356 (GRCm39) missense probably damaging 1.00
R0026:Vwa3a UTSW 7 120,379,434 (GRCm39) missense probably damaging 1.00
R0114:Vwa3a UTSW 7 120,374,603 (GRCm39) missense probably benign 0.06
R1145:Vwa3a UTSW 7 120,392,566 (GRCm39) missense probably damaging 0.99
R1145:Vwa3a UTSW 7 120,392,566 (GRCm39) missense probably damaging 0.99
R1306:Vwa3a UTSW 7 120,399,613 (GRCm39) missense possibly damaging 0.49
R1355:Vwa3a UTSW 7 120,383,334 (GRCm39) missense probably damaging 1.00
R1412:Vwa3a UTSW 7 120,379,377 (GRCm39) missense probably damaging 1.00
R1466:Vwa3a UTSW 7 120,367,388 (GRCm39) missense probably damaging 1.00
R1466:Vwa3a UTSW 7 120,367,388 (GRCm39) missense probably damaging 1.00
R1584:Vwa3a UTSW 7 120,367,388 (GRCm39) missense probably damaging 1.00
R1686:Vwa3a UTSW 7 120,379,371 (GRCm39) missense probably damaging 1.00
R1710:Vwa3a UTSW 7 120,403,254 (GRCm39) splice site probably null
R1717:Vwa3a UTSW 7 120,392,609 (GRCm39) missense probably benign
R1834:Vwa3a UTSW 7 120,389,359 (GRCm39) missense probably benign 0.06
R1912:Vwa3a UTSW 7 120,394,850 (GRCm39) missense probably damaging 1.00
R1970:Vwa3a UTSW 7 120,379,394 (GRCm39) missense probably damaging 1.00
R1978:Vwa3a UTSW 7 120,358,177 (GRCm39) missense probably null 0.00
R2034:Vwa3a UTSW 7 120,381,868 (GRCm39) nonsense probably null
R2059:Vwa3a UTSW 7 120,358,172 (GRCm39) missense probably damaging 0.98
R2120:Vwa3a UTSW 7 120,391,641 (GRCm39) missense probably benign
R2408:Vwa3a UTSW 7 120,372,517 (GRCm39) missense probably benign 0.00
R3423:Vwa3a UTSW 7 120,398,334 (GRCm39) missense probably damaging 1.00
R3744:Vwa3a UTSW 7 120,351,817 (GRCm39) missense probably benign
R3816:Vwa3a UTSW 7 120,399,602 (GRCm39) missense probably benign 0.29
R3849:Vwa3a UTSW 7 120,361,687 (GRCm39) nonsense probably null
R3904:Vwa3a UTSW 7 120,358,099 (GRCm39) missense probably benign
R4031:Vwa3a UTSW 7 120,367,455 (GRCm39) critical splice donor site probably null
R4408:Vwa3a UTSW 7 120,378,149 (GRCm39) missense probably benign 0.16
R4629:Vwa3a UTSW 7 120,392,598 (GRCm39) missense probably benign 0.05
R4652:Vwa3a UTSW 7 120,378,138 (GRCm39) missense probably damaging 0.96
R4884:Vwa3a UTSW 7 120,390,924 (GRCm39) missense probably benign
R4948:Vwa3a UTSW 7 120,375,487 (GRCm39) missense probably damaging 0.98
R5112:Vwa3a UTSW 7 120,383,208 (GRCm39) missense probably damaging 1.00
R5385:Vwa3a UTSW 7 120,389,365 (GRCm39) missense possibly damaging 0.91
R5386:Vwa3a UTSW 7 120,389,365 (GRCm39) missense possibly damaging 0.91
R5579:Vwa3a UTSW 7 120,367,396 (GRCm39) missense probably benign 0.29
R5587:Vwa3a UTSW 7 120,379,458 (GRCm39) missense probably damaging 1.00
R5639:Vwa3a UTSW 7 120,389,366 (GRCm39) missense probably damaging 0.99
R6102:Vwa3a UTSW 7 120,375,361 (GRCm39) splice site probably null
R6239:Vwa3a UTSW 7 120,393,457 (GRCm39) missense probably benign 0.00
R6279:Vwa3a UTSW 7 120,381,623 (GRCm39) missense probably damaging 0.98
R6298:Vwa3a UTSW 7 120,394,874 (GRCm39) missense probably benign 0.01
R6300:Vwa3a UTSW 7 120,381,623 (GRCm39) missense probably damaging 0.98
R6336:Vwa3a UTSW 7 120,361,646 (GRCm39) missense possibly damaging 0.93
R6907:Vwa3a UTSW 7 120,391,804 (GRCm39) unclassified probably benign
R7135:Vwa3a UTSW 7 120,372,253 (GRCm39) missense possibly damaging 0.69
R7215:Vwa3a UTSW 7 120,394,853 (GRCm39) missense possibly damaging 0.83
R7282:Vwa3a UTSW 7 120,385,688 (GRCm39) missense probably benign 0.03
R7351:Vwa3a UTSW 7 120,375,559 (GRCm39) missense probably damaging 0.99
R7406:Vwa3a UTSW 7 120,378,138 (GRCm39) missense probably damaging 0.96
R7557:Vwa3a UTSW 7 120,394,841 (GRCm39) missense possibly damaging 0.90
R7612:Vwa3a UTSW 7 120,351,838 (GRCm39) missense probably null 0.47
R7699:Vwa3a UTSW 7 120,351,841 (GRCm39) missense probably damaging 1.00
R7823:Vwa3a UTSW 7 120,372,185 (GRCm39) missense probably damaging 1.00
R8074:Vwa3a UTSW 7 120,398,321 (GRCm39) missense probably benign 0.00
R8730:Vwa3a UTSW 7 120,381,910 (GRCm39) missense probably damaging 0.97
R8768:Vwa3a UTSW 7 120,375,299 (GRCm39) missense probably damaging 1.00
R8941:Vwa3a UTSW 7 120,375,311 (GRCm39) missense probably benign 0.00
R9116:Vwa3a UTSW 7 120,366,470 (GRCm39) missense
R9134:Vwa3a UTSW 7 120,377,659 (GRCm39) missense probably damaging 0.96
R9264:Vwa3a UTSW 7 120,374,687 (GRCm39) missense probably benign
R9450:Vwa3a UTSW 7 120,403,253 (GRCm39) critical splice donor site probably null
R9464:Vwa3a UTSW 7 120,385,682 (GRCm39) missense possibly damaging 0.84
R9792:Vwa3a UTSW 7 120,383,307 (GRCm39) missense probably damaging 1.00
R9793:Vwa3a UTSW 7 120,383,307 (GRCm39) missense probably damaging 1.00
V7732:Vwa3a UTSW 7 120,378,172 (GRCm39) splice site probably benign
X0019:Vwa3a UTSW 7 120,367,432 (GRCm39) missense probably damaging 0.99
Z1177:Vwa3a UTSW 7 120,358,356 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GACTCCTTGCTAAATGGAGAATG -3'
(R):5'- CAGTAAGCAGGCATTCTTAGC -3'

Sequencing Primer
(F):5'- CTCCTTGCTAAATGGAGAATGGGAAC -3'
(R):5'- AAGCAGGCATTCTTAGCATGTTTGTC -3'
Posted On 2015-10-08