Incidental Mutation 'IGL01807:Vwa3a'
ID 155722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vwa3a
Ensembl Gene ENSMUSG00000030889
Gene Name von Willebrand factor A domain containing 3A
Synonyms E030013G06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01807
Quality Score
Status
Chromosome 7
Chromosomal Location 120338541-120404965 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 120374729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033180] [ENSMUST00000166668] [ENSMUST00000167213] [ENSMUST00000168600]
AlphaFold Q3UVV9
Predicted Effect probably null
Transcript: ENSMUST00000033180
SMART Domains Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889

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 null
Transcript: ENSMUST00000166668
SMART Domains Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889

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 null
Transcript: ENSMUST00000167213
SMART Domains Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889

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: 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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 G T 6: 142,551,640 (GRCm39) L1223M probably damaging Het
Ano7 A G 1: 93,330,418 (GRCm39) E814G possibly damaging Het
Atf1 T C 15: 100,149,945 (GRCm39) probably benign Het
Bco2 T C 9: 50,457,158 (GRCm39) probably benign Het
Birc6 A G 17: 74,938,032 (GRCm39) I2625V probably benign Het
Bub1 A G 2: 127,654,897 (GRCm39) S545P probably benign Het
Cacna1i T A 15: 80,258,348 (GRCm39) I1173N probably damaging Het
Ccdc175 T C 12: 72,206,616 (GRCm39) E210G probably benign Het
Ccl2 G A 11: 81,926,513 (GRCm39) G9D possibly damaging Het
Chmp2b T A 16: 65,337,091 (GRCm39) T189S probably benign Het
Col4a1 A T 8: 11,297,056 (GRCm39) probably benign Het
Ecm1 A G 3: 95,643,891 (GRCm39) S236P probably damaging Het
Epha8 A G 4: 136,658,993 (GRCm39) V887A probably benign Het
Fam227a T C 15: 79,533,856 (GRCm39) M36V probably benign Het
Fbxo15 T A 18: 84,999,506 (GRCm39) probably benign Het
Mtmr4 A G 11: 87,494,976 (GRCm39) I423V possibly damaging Het
Ngly1 C T 14: 16,290,873 (GRCm38) L452F probably benign Het
Or52u1 T A 7: 104,237,091 (GRCm39) W27R probably damaging Het
Or5ac15 T C 16: 58,939,936 (GRCm39) T166A possibly damaging Het
Pak2 T C 16: 31,856,097 (GRCm39) K247E probably damaging Het
Pola2 A G 19: 6,003,187 (GRCm39) probably benign Het
Ppp1r9a C T 6: 5,158,248 (GRCm39) Q1219* probably null Het
Rasgrf1 T C 9: 89,873,566 (GRCm39) I625T probably damaging Het
Rpap1 T C 2: 119,613,189 (GRCm39) T120A possibly damaging Het
Scin T C 12: 40,134,288 (GRCm39) Y252C probably damaging Het
Slc5a9 A T 4: 111,734,737 (GRCm39) *686R probably null Het
Smc1b T A 15: 84,980,946 (GRCm39) D774V probably damaging Het
Uba6 C T 5: 86,270,270 (GRCm39) R838Q probably damaging Het
Ulk4 A G 9: 121,084,251 (GRCm39) S105P probably damaging Het
Xirp2 A G 2: 67,345,375 (GRCm39) T2539A probably benign Het
Zfpm2 T C 15: 40,616,452 (GRCm39) probably null Het
Other mutations in Vwa3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01584:Vwa3a APN 7 120,383,197 (GRCm39) missense probably benign 0.09
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
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
Posted On 2014-02-04