Incidental Mutation 'R6102:Vwa3a'
ID 485309
Institutional Source Beutler Lab
Gene Symbol Vwa3a
Ensembl Gene ENSMUSG00000030889
Gene Name von Willebrand factor A domain containing 3A
Synonyms E030013G06Rik
MMRRC Submission 044252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6102 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 120739318-120805742 bp(+) (GRCm38)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to G at 120776138 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033180] [ENSMUST00000033180] [ENSMUST00000166668] [ENSMUST00000166668] [ENSMUST00000167213] [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: 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: 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 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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,320,023 (GRCm38) I290T possibly damaging Het
Apeh T A 9: 108,086,439 (GRCm38) D559V probably damaging Het
Aspm T A 1: 139,477,459 (GRCm38) Y1361* probably null Het
Atad5 G T 11: 80,111,572 (GRCm38) probably null Het
Ccr4 C T 9: 114,496,493 (GRCm38) probably null Het
Clasrp G A 7: 19,586,468 (GRCm38) probably benign Het
Cldn23 A G 8: 35,825,551 (GRCm38) M261T probably benign Het
Cmya5 T C 13: 93,094,231 (GRCm38) M1450V probably benign Het
Cyp4v3 T A 8: 45,320,160 (GRCm38) E202V probably damaging Het
Dnah7a A T 1: 53,559,140 (GRCm38) V1412E probably benign Het
Dnah9 A G 11: 65,990,516 (GRCm38) S2578P probably damaging Het
Dsc2 T A 18: 20,047,108 (GRCm38) Y196F probably benign Het
Exoc1 T C 5: 76,537,779 (GRCm38) S113P probably damaging Het
Fbxo6 A T 4: 148,149,522 (GRCm38) I39N probably damaging Het
Frs3 C T 17: 47,702,671 (GRCm38) H173Y probably damaging Het
Ginm1 G T 10: 7,768,496 (GRCm38) T323K probably benign Het
Golgb1 T C 16: 36,912,865 (GRCm38) S825P probably damaging Het
Hs3st3b1 A T 11: 63,921,855 (GRCm38) C11* probably null Het
Ighv3-3 G C 12: 114,196,460 (GRCm38) A110G possibly damaging Het
Igkv6-20 G A 6: 70,335,869 (GRCm38) H107Y probably benign Het
Kcnj16 A G 11: 111,025,577 (GRCm38) E355G probably benign Het
Lig4 C T 8: 9,972,872 (GRCm38) G303S probably damaging Het
Map1b A C 13: 99,425,873 (GRCm38) V2443G unknown Het
Map3k6 T C 4: 133,247,131 (GRCm38) probably null Het
Mmp13 A G 9: 7,276,688 (GRCm38) Q261R probably benign Het
Mphosph9 T A 5: 124,297,709 (GRCm38) I554F possibly damaging Het
Mrgpra3 A T 7: 47,590,149 (GRCm38) F10I possibly damaging Het
Ms4a18 G A 19: 11,013,523 (GRCm38) T69I probably benign Het
Mtmr3 T C 11: 4,487,673 (GRCm38) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm38) Q188L probably benign Het
Nfatc2 A G 2: 168,519,507 (GRCm38) probably benign Het
Olfr152 T C 2: 87,782,848 (GRCm38) F103L probably damaging Het
Olfr495 T C 7: 108,395,284 (GRCm38) S55P probably damaging Het
Olfr854 T C 9: 19,567,022 (GRCm38) M121V possibly damaging Het
Paip2b A C 6: 83,808,846 (GRCm38) V134G possibly damaging Het
Pax3 T C 1: 78,132,347 (GRCm38) T225A probably damaging Het
Pbx1 C A 1: 168,183,565 (GRCm38) A298S probably benign Het
Pcdhac2 A T 18: 37,146,282 (GRCm38) K772* probably null Het
Pcsk4 A T 10: 80,325,817 (GRCm38) Y163* probably null Het
Plcd3 A G 11: 103,080,644 (GRCm38) V58A probably damaging Het
Plek2 T A 12: 78,900,093 (GRCm38) T57S possibly damaging Het
Plscr2 C T 9: 92,287,668 (GRCm38) T57I probably benign Het
Ppp2r5b A G 19: 6,234,738 (GRCm38) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm38) probably benign Het
Psme4 T A 11: 30,865,567 (GRCm38) L1693H probably damaging Het
Rrbp1 T A 2: 143,988,393 (GRCm38) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 (GRCm38) probably benign Het
Rsrc1 C T 3: 66,994,649 (GRCm38) P44L unknown Het
Serpina3b A T 12: 104,134,169 (GRCm38) T337S probably benign Het
Slc18a2 T C 19: 59,293,878 (GRCm38) Y506H probably benign Het
Slc9a9 A G 9: 94,936,429 (GRCm38) Y292C probably benign Het
Spta1 T C 1: 174,224,520 (GRCm38) V1840A probably benign Het
Ssb T C 2: 69,871,208 (GRCm38) *416Q probably null Het
Strada A G 11: 106,168,436 (GRCm38) V209A probably benign Het
Tbc1d31 A T 15: 57,936,093 (GRCm38) D225V probably damaging Het
Tgm4 T C 9: 123,056,535 (GRCm38) F381L probably benign Het
Tmem120b T A 5: 123,115,144 (GRCm38) Y203N probably damaging Het
Tmem176b A G 6: 48,835,934 (GRCm38) V109A probably benign Het
Tnfrsf11a C A 1: 105,819,946 (GRCm38) L201M possibly damaging Het
Ttn C A 2: 76,974,350 (GRCm38) probably null Het
Tubb2a T C 13: 34,075,343 (GRCm38) I155V probably benign Het
Vmn1r5 A G 6: 56,986,114 (GRCm38) D258G probably damaging Het
Vmn2r121 T C X: 124,133,575 (GRCm38) T120A probably benign Het
Vmn2r19 A T 6: 123,329,948 (GRCm38) I472F probably damaging Het
Zfp273 A G 13: 67,822,347 (GRCm38) Y5C probably damaging Het
Zfp647 G A 15: 76,912,085 (GRCm38) P125L probably damaging Het
Zfp825 A G 13: 74,480,653 (GRCm38) L248P probably damaging Het
Other mutations in Vwa3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01584:Vwa3a APN 7 120,783,974 (GRCm38) missense probably benign 0.09
IGL01807:Vwa3a APN 7 120,775,506 (GRCm38) splice site probably null
IGL02850:Vwa3a APN 7 120,773,292 (GRCm38) missense probably benign 0.00
IGL03253:Vwa3a APN 7 120,778,869 (GRCm38) missense probably benign 0.03
PIT4812001:Vwa3a UTSW 7 120,776,133 (GRCm38) missense probably damaging 1.00
R0026:Vwa3a UTSW 7 120,780,211 (GRCm38) missense probably damaging 1.00
R0114:Vwa3a UTSW 7 120,775,380 (GRCm38) missense probably benign 0.06
R1145:Vwa3a UTSW 7 120,793,343 (GRCm38) missense probably damaging 0.99
R1145:Vwa3a UTSW 7 120,793,343 (GRCm38) missense probably damaging 0.99
R1306:Vwa3a UTSW 7 120,800,390 (GRCm38) missense possibly damaging 0.49
R1355:Vwa3a UTSW 7 120,784,111 (GRCm38) missense probably damaging 1.00
R1412:Vwa3a UTSW 7 120,780,154 (GRCm38) missense probably damaging 1.00
R1466:Vwa3a UTSW 7 120,768,165 (GRCm38) missense probably damaging 1.00
R1466:Vwa3a UTSW 7 120,768,165 (GRCm38) missense probably damaging 1.00
R1584:Vwa3a UTSW 7 120,768,165 (GRCm38) missense probably damaging 1.00
R1686:Vwa3a UTSW 7 120,780,148 (GRCm38) missense probably damaging 1.00
R1710:Vwa3a UTSW 7 120,804,031 (GRCm38) splice site probably null
R1717:Vwa3a UTSW 7 120,793,386 (GRCm38) missense probably benign
R1834:Vwa3a UTSW 7 120,790,136 (GRCm38) missense probably benign 0.06
R1912:Vwa3a UTSW 7 120,795,627 (GRCm38) missense probably damaging 1.00
R1970:Vwa3a UTSW 7 120,780,171 (GRCm38) missense probably damaging 1.00
R1978:Vwa3a UTSW 7 120,758,954 (GRCm38) missense probably null 0.00
R2034:Vwa3a UTSW 7 120,782,645 (GRCm38) nonsense probably null
R2059:Vwa3a UTSW 7 120,758,949 (GRCm38) missense probably damaging 0.98
R2120:Vwa3a UTSW 7 120,792,418 (GRCm38) missense probably benign
R2408:Vwa3a UTSW 7 120,773,294 (GRCm38) missense probably benign 0.00
R3423:Vwa3a UTSW 7 120,799,111 (GRCm38) missense probably damaging 1.00
R3744:Vwa3a UTSW 7 120,752,594 (GRCm38) missense probably benign
R3816:Vwa3a UTSW 7 120,800,379 (GRCm38) missense probably benign 0.29
R3849:Vwa3a UTSW 7 120,762,464 (GRCm38) nonsense probably null
R3904:Vwa3a UTSW 7 120,758,876 (GRCm38) missense probably benign
R4031:Vwa3a UTSW 7 120,768,232 (GRCm38) critical splice donor site probably null
R4408:Vwa3a UTSW 7 120,778,926 (GRCm38) missense probably benign 0.16
R4628:Vwa3a UTSW 7 120,793,375 (GRCm38) missense probably benign 0.05
R4629:Vwa3a UTSW 7 120,793,375 (GRCm38) missense probably benign 0.05
R4652:Vwa3a UTSW 7 120,778,915 (GRCm38) missense probably damaging 0.96
R4884:Vwa3a UTSW 7 120,791,701 (GRCm38) missense probably benign
R4948:Vwa3a UTSW 7 120,776,264 (GRCm38) missense probably damaging 0.98
R5112:Vwa3a UTSW 7 120,783,985 (GRCm38) missense probably damaging 1.00
R5385:Vwa3a UTSW 7 120,790,142 (GRCm38) missense possibly damaging 0.91
R5386:Vwa3a UTSW 7 120,790,142 (GRCm38) missense possibly damaging 0.91
R5579:Vwa3a UTSW 7 120,768,173 (GRCm38) missense probably benign 0.29
R5587:Vwa3a UTSW 7 120,780,235 (GRCm38) missense probably damaging 1.00
R5639:Vwa3a UTSW 7 120,790,143 (GRCm38) missense probably damaging 0.99
R6239:Vwa3a UTSW 7 120,794,234 (GRCm38) missense probably benign 0.00
R6279:Vwa3a UTSW 7 120,782,400 (GRCm38) missense probably damaging 0.98
R6298:Vwa3a UTSW 7 120,795,651 (GRCm38) missense probably benign 0.01
R6300:Vwa3a UTSW 7 120,782,400 (GRCm38) missense probably damaging 0.98
R6336:Vwa3a UTSW 7 120,762,423 (GRCm38) missense possibly damaging 0.93
R6907:Vwa3a UTSW 7 120,792,581 (GRCm38) unclassified probably benign
R7135:Vwa3a UTSW 7 120,773,030 (GRCm38) missense possibly damaging 0.69
R7215:Vwa3a UTSW 7 120,795,630 (GRCm38) missense possibly damaging 0.83
R7282:Vwa3a UTSW 7 120,786,465 (GRCm38) missense probably benign 0.03
R7351:Vwa3a UTSW 7 120,776,336 (GRCm38) missense probably damaging 0.99
R7406:Vwa3a UTSW 7 120,778,915 (GRCm38) missense probably damaging 0.96
R7557:Vwa3a UTSW 7 120,795,618 (GRCm38) missense possibly damaging 0.90
R7612:Vwa3a UTSW 7 120,752,615 (GRCm38) missense probably null 0.47
R7699:Vwa3a UTSW 7 120,752,618 (GRCm38) missense probably damaging 1.00
R7823:Vwa3a UTSW 7 120,772,962 (GRCm38) missense probably damaging 1.00
R8074:Vwa3a UTSW 7 120,799,098 (GRCm38) missense probably benign 0.00
R8730:Vwa3a UTSW 7 120,782,687 (GRCm38) missense probably damaging 0.97
R8768:Vwa3a UTSW 7 120,776,076 (GRCm38) missense probably damaging 1.00
R8941:Vwa3a UTSW 7 120,776,088 (GRCm38) missense probably benign 0.00
R9116:Vwa3a UTSW 7 120,767,247 (GRCm38) missense
R9134:Vwa3a UTSW 7 120,778,436 (GRCm38) missense probably damaging 0.96
R9264:Vwa3a UTSW 7 120,775,464 (GRCm38) missense probably benign
R9450:Vwa3a UTSW 7 120,804,030 (GRCm38) critical splice donor site probably null
R9464:Vwa3a UTSW 7 120,786,459 (GRCm38) missense possibly damaging 0.84
R9792:Vwa3a UTSW 7 120,784,084 (GRCm38) missense probably damaging 1.00
R9793:Vwa3a UTSW 7 120,784,084 (GRCm38) missense probably damaging 1.00
V7732:Vwa3a UTSW 7 120,778,949 (GRCm38) splice site probably benign
X0019:Vwa3a UTSW 7 120,768,209 (GRCm38) missense probably damaging 0.99
Z1177:Vwa3a UTSW 7 120,759,133 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTTAAGAAGCGCCACACAGG -3'
(R):5'- GGGCACAAATTCTTCCACAGG -3'

Sequencing Primer
(F):5'- CAGCTCTAAAATGTGCTGTGTAACGG -3'
(R):5'- CTTCCACAGGATTAAAGGCGTTG -3'
Posted On 2017-08-16