Incidental Mutation 'R1355:Vwa3a'
ID 156280
Institutional Source Beutler Lab
Gene Symbol Vwa3a
Ensembl Gene ENSMUSG00000030889
Gene Name von Willebrand factor A domain containing 3A
Synonyms E030013G06Rik
MMRRC Submission 039420-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1355 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 120338541-120404965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120383334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 645 (Y645C)
Ref Sequence ENSEMBL: ENSMUSP00000133029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033180] [ENSMUST00000165055] [ENSMUST00000166668] [ENSMUST00000167213] [ENSMUST00000168430] [ENSMUST00000168600]
AlphaFold Q3UVV9
Predicted Effect probably damaging
Transcript: ENSMUST00000033180
AA Change: Y645C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: Y645C

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 damaging
Transcript: ENSMUST00000165055
AA Change: Y105C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129672
Gene: ENSMUSG00000030889
AA Change: Y105C

DomainStartEndE-ValueType
Blast:VWA 1 162 1e-94 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000166083
Predicted Effect probably damaging
Transcript: ENSMUST00000166668
AA Change: Y645C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: Y645C

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 damaging
Transcript: ENSMUST00000167213
AA Change: Y645C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: Y645C

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 unknown
Transcript: ENSMUST00000168430
AA Change: T21A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207721
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
Meta Mutation Damage Score 0.2380 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.4%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Ankrd52 A G 10: 128,224,565 (GRCm39) D781G possibly damaging Het
Arhgef5 T A 6: 43,260,846 (GRCm39) F1424I probably damaging Het
Atp10b G A 11: 43,042,482 (GRCm39) W14* probably null Het
B4galnt4 T C 7: 140,645,308 (GRCm39) V259A probably damaging Het
Ccdc141 A T 2: 76,860,945 (GRCm39) I944N probably damaging Het
Ccdc146 A T 5: 21,526,240 (GRCm39) D224E probably damaging Het
Ccne1 A G 7: 37,805,747 (GRCm39) I43T possibly damaging Het
Cd226 T A 18: 89,265,147 (GRCm39) S29T probably benign Het
Cebpz G T 17: 79,242,753 (GRCm39) D300E probably benign Het
Cryzl1 A G 16: 91,489,546 (GRCm39) V266A possibly damaging Het
Cyp2c68 A G 19: 39,729,400 (GRCm39) L29P probably damaging Het
Dennd3 A C 15: 73,412,703 (GRCm39) probably benign Het
Dpy19l4 C T 4: 11,303,371 (GRCm39) W183* probably null Het
Eml6 T G 11: 29,783,085 (GRCm39) S599R probably benign Het
Erc1 A T 6: 119,720,381 (GRCm39) L440* probably null Het
Frem3 A G 8: 81,417,331 (GRCm39) Y2012C probably damaging Het
Garin5a A G 7: 44,146,115 (GRCm39) K2E possibly damaging Het
Gm10288 A T 3: 146,544,748 (GRCm39) noncoding transcript Het
Gm1110 T A 9: 26,795,057 (GRCm39) K476N probably benign Het
Gm11937 A T 11: 99,500,733 (GRCm39) S95T possibly damaging Het
H2bc13 T A 13: 21,900,027 (GRCm39) Q96L probably damaging Het
Hs6st1 T A 1: 36,142,657 (GRCm39) H197Q probably damaging Het
Ism1 A T 2: 139,573,994 (GRCm39) I115F possibly damaging Het
Itgb8 C T 12: 119,134,738 (GRCm39) G443E probably benign Het
Kalrn T A 16: 33,795,954 (GRCm39) I1274F possibly damaging Het
Lrrcc1 G T 3: 14,613,174 (GRCm39) V299L probably benign Het
Mettl5 A T 2: 69,711,764 (GRCm39) probably null Het
Mtcl3 A T 10: 29,023,318 (GRCm39) T222S probably benign Het
Nlrp2 G T 7: 5,330,490 (GRCm39) N635K possibly damaging Het
Or4c3d G A 2: 89,881,957 (GRCm39) T237I probably benign Het
Or5ac16 A G 16: 59,022,043 (GRCm39) S249P probably damaging Het
Or5b112 T A 19: 13,319,882 (GRCm39) Y253* probably null Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Plxna1 A G 6: 89,297,748 (GRCm39) probably benign Het
Ppp4r1 A T 17: 66,147,982 (GRCm39) E924D probably benign Het
Prdm2 C T 4: 142,858,533 (GRCm39) V1586I probably benign Het
Pros1 A G 16: 62,739,921 (GRCm39) K457E probably benign Het
Rer1 T A 4: 155,160,081 (GRCm39) M156L probably benign Het
Rgs16 A T 1: 153,619,414 (GRCm39) K140M probably damaging Het
Rgsl1 A G 1: 153,683,507 (GRCm39) M1T probably null Het
Setdb2 T A 14: 59,654,890 (GRCm39) K333N probably damaging Het
Sgo2a A G 1: 58,057,124 (GRCm39) T1103A possibly damaging Het
Sik3 C T 9: 46,107,170 (GRCm39) probably benign Het
Slc44a3 C A 3: 121,325,320 (GRCm39) G47V probably damaging Het
Snrpd1 G A 18: 10,627,818 (GRCm39) G103D probably benign Het
Sspo T A 6: 48,425,560 (GRCm39) S60R probably benign Het
Susd1 C T 4: 59,424,114 (GRCm39) C37Y possibly damaging Het
Tiam1 A T 16: 89,695,109 (GRCm39) I116N probably benign Het
Ttc3 A G 16: 94,219,496 (GRCm39) S492G possibly damaging Het
Uckl1 G T 2: 181,215,169 (GRCm39) T213K probably damaging Het
Usp38 T C 8: 81,711,662 (GRCm39) E791G possibly damaging Het
Vps13b C T 15: 35,422,600 (GRCm39) R187C probably damaging Het
Wasf3 T C 5: 146,407,018 (GRCm39) probably benign 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
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
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'- CCCATAGCACATACTCAGCGCCT -3'
(R):5'- GCACTGAGCTGCTCATAGTCCC -3'

Sequencing Primer
(F):5'- ACATACTCAGCGCCTATGTG -3'
(R):5'- cagccgtctctccagcc -3'
Posted On 2014-02-11