Incidental Mutation 'R7557:Vwa3a'
ID 584835
Institutional Source Beutler Lab
Gene Symbol Vwa3a
Ensembl Gene ENSMUSG00000030889
Gene Name von Willebrand factor A domain containing 3A
Synonyms E030013G06Rik
MMRRC Submission 045652-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7557 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 120338541-120404965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120394841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 887 (M887K)
Ref Sequence ENSEMBL: ENSMUSP00000129136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033180] [ENSMUST00000166668] [ENSMUST00000167213]
AlphaFold Q3UVV9
Predicted Effect possibly damaging
Transcript: ENSMUST00000033180
AA Change: M887K

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: M887K

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: ENSMUST00000166083
Predicted Effect possibly damaging
Transcript: ENSMUST00000166668
AA Change: M887K

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: M887K

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 possibly damaging
Transcript: ENSMUST00000167213
AA Change: M887K

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: M887K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,774,044 (GRCm39) Q1078* probably null Het
Aatk T C 11: 119,900,256 (GRCm39) K1310R possibly damaging Het
Acaa2 C T 18: 74,928,230 (GRCm39) T153M possibly damaging Het
Add3 A G 19: 53,227,868 (GRCm39) T518A probably damaging Het
Cacnb4 T C 2: 52,359,579 (GRCm39) E143G probably damaging Het
Cd209a T A 8: 3,795,541 (GRCm39) T177S probably benign Het
Chp1 T A 2: 119,391,238 (GRCm39) Y32N probably damaging Het
Clcn3 T C 8: 61,390,402 (GRCm39) T180A probably damaging Het
Dctn2 C A 10: 127,114,273 (GRCm39) T373N probably benign Het
Dipk2a T C 9: 94,402,591 (GRCm39) D357G probably damaging Het
Ecpas A G 4: 58,849,691 (GRCm39) Y483H possibly damaging Het
Emb T A 13: 117,386,252 (GRCm39) N136K probably benign Het
Enpp2 A T 15: 54,773,536 (GRCm39) C62S probably damaging Het
Fbxo28 G T 1: 182,169,000 (GRCm39) A52E unknown Het
Gask1b A T 3: 79,793,915 (GRCm39) K128* probably null Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Ggta1 T C 2: 35,292,548 (GRCm39) D253G probably damaging Het
Gps1 C T 11: 120,677,193 (GRCm39) A164V probably benign Het
Gramd4 C T 15: 85,985,101 (GRCm39) Q146* probably null Het
Kcnh5 A T 12: 75,054,399 (GRCm39) M515K possibly damaging Het
Klrc3 T C 6: 129,616,107 (GRCm39) T203A probably damaging Het
Krt26 G T 11: 99,225,567 (GRCm39) R305S probably damaging Het
Lpin1 A G 12: 16,630,793 (GRCm39) V35A Het
Marf1 C T 16: 13,950,560 (GRCm39) R942H probably damaging Het
Mfhas1 T A 8: 36,056,758 (GRCm39) M411K possibly damaging Het
Mok A G 12: 110,774,833 (GRCm39) S330P probably benign Het
Msto1 A G 3: 88,817,435 (GRCm39) probably null Het
Omg T A 11: 79,393,679 (GRCm39) I60F possibly damaging Het
Or10w1 T A 19: 13,632,390 (GRCm39) I199N possibly damaging Het
Pcdhgb4 T A 18: 37,855,847 (GRCm39) C747* probably null Het
Pih1d1 A G 7: 44,806,183 (GRCm39) T40A probably benign Het
Pih1d2 A T 9: 50,536,216 (GRCm39) E290D probably damaging Het
Plce1 A G 19: 38,753,848 (GRCm39) K1849E probably benign Het
Plekha5 T C 6: 140,372,271 (GRCm39) Y74H probably damaging Het
Pole T G 5: 110,460,860 (GRCm39) I1183S probably damaging Het
Ptgs1 T C 2: 36,135,223 (GRCm39) S396P possibly damaging Het
Rasa2 T C 9: 96,439,478 (GRCm39) E575G probably damaging Het
Sec22b A G 3: 97,808,674 (GRCm39) T5A probably damaging Het
Slc18a1 T A 8: 69,518,213 (GRCm39) D267V probably damaging Het
Smad5 T C 13: 56,875,282 (GRCm39) F157L probably benign Het
Tcea1 T A 1: 4,965,213 (GRCm39) C294* probably null Het
Tut7 T C 13: 59,936,280 (GRCm39) I1274V possibly damaging Het
Txndc15 T A 13: 55,865,767 (GRCm39) M77K probably benign Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vmn2r1 T A 3: 63,997,475 (GRCm39) V377D probably damaging Het
Vmn2r7 A G 3: 64,632,394 (GRCm39) Y23H probably benign Het
Zbtb5 T C 4: 44,995,196 (GRCm39) N63D 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
R4628:Vwa3a UTSW 7 120,392,598 (GRCm39) missense probably benign 0.05
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
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'- TCGCAGAACCATTGAATCTAGTAG -3'
(R):5'- TCAGTTGGCTAAGTCCACTG -3'

Sequencing Primer
(F):5'- GACCCTGTTTCAAAATTAGGCAGGC -3'
(R):5'- TGCCCAGACAGTCTCTAGGAC -3'
Posted On 2019-10-17