Incidental Mutation 'R1978:Vwa3a'
ID 222012
Institutional Source Beutler Lab
Gene Symbol Vwa3a
Ensembl Gene ENSMUSG00000030889
Gene Name von Willebrand factor A domain containing 3A
Synonyms E030013G06Rik
MMRRC Submission 039991-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1978 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 120739318-120805742 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120758954 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 83 (I83V)
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
AA Change: I83V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: I83V

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
AA Change: I83V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: I83V

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
AA Change: I83V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: I83V

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
AA Change: I83V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: I83V

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
AA Change: I83V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: I83V

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
AA Change: I83V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: I83V

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
AA Change: I83V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: I83V

DomainStartEndE-ValueType
Pfam:VWA_3 142 297 8.3e-29 PFAM
Pfam:VWA_3 483 609 5.3e-17 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 63,898,537 (GRCm38) C205* probably null Het
2810474O19Rik T A 6: 149,326,432 (GRCm38) N325K probably benign Het
4921539E11Rik T A 4: 103,270,764 (GRCm38) T55S possibly damaging Het
Akap12 A G 10: 4,313,855 (GRCm38) D88G probably benign Het
Ankrd53 C A 6: 83,763,203 (GRCm38) F84L probably damaging Het
Apol7b A C 15: 77,423,339 (GRCm38) F319V probably damaging Het
Bsn A G 9: 108,114,549 (GRCm38) S1335P probably benign Het
Cep192 T C 18: 67,803,158 (GRCm38) probably null Het
Cfap57 A G 4: 118,593,132 (GRCm38) S598P probably benign Het
Commd8 T C 5: 72,165,499 (GRCm38) H25R probably damaging Het
Crisp4 T C 1: 18,128,665 (GRCm38) I143V probably benign Het
Cyp4a12b A T 4: 115,438,145 (GRCm38) T483S probably benign Het
Dbx2 C T 15: 95,632,353 (GRCm38) M244I probably damaging Het
Dnah6 T G 6: 73,121,970 (GRCm38) H1982P possibly damaging Het
Fam220a C A 5: 143,563,127 (GRCm38) P98Q probably damaging Het
Ggnbp1 A G 17: 27,029,543 (GRCm38) K29E possibly damaging Het
Gm14569 A C X: 36,432,128 (GRCm38) M976R probably benign Het
Gm9573 T A 17: 35,622,965 (GRCm38) probably benign Het
Hck G T 2: 153,129,856 (GRCm38) W112C probably damaging Het
Heatr5a A T 12: 51,939,658 (GRCm38) S591T possibly damaging Het
Hhat A G 1: 192,717,107 (GRCm38) S242P probably benign Het
Hnrnpll A G 17: 80,044,518 (GRCm38) S333P probably benign Het
Hoxc6 T C 15: 103,010,007 (GRCm38) probably null Het
Inpp5j G A 11: 3,502,150 (GRCm38) P367S probably damaging Het
Lamc2 A G 1: 153,133,597 (GRCm38) probably null Het
Loxhd1 T A 18: 77,321,642 (GRCm38) I194N possibly damaging Het
Miga1 CCAGGGCAG CCAG 3: 152,335,304 (GRCm38) probably null Het
Mkln1 C T 6: 31,490,530 (GRCm38) Q60* probably null Het
Mybph C A 1: 134,196,996 (GRCm38) H185N probably benign Het
Myo1g T C 11: 6,520,829 (GRCm38) D9G possibly damaging Het
Myo6 A T 9: 80,228,925 (GRCm38) D110V probably damaging Het
Ncoa7 A G 10: 30,691,299 (GRCm38) V412A probably benign Het
Neb T C 2: 52,287,345 (GRCm38) K1328R probably damaging Het
Olfm5 T A 7: 104,164,741 (GRCm38) Q22L unknown Het
Olfr1106 C T 2: 87,048,835 (GRCm38) V134M possibly damaging Het
Olfr1328 A T 4: 118,934,184 (GRCm38) Y221* probably null Het
Olfr1355 A G 10: 78,879,280 (GRCm38) Y36C probably damaging Het
Olfr1414 C A 1: 92,511,777 (GRCm38) G84C probably damaging Het
Olfr1423 T C 19: 12,036,341 (GRCm38) T134A probably benign Het
Olfr414 T A 1: 174,431,091 (GRCm38) I221N probably damaging Het
P3h1 A T 4: 119,247,976 (GRCm38) Q717L probably null Het
Pclo T C 5: 14,713,795 (GRCm38) I4094T unknown Het
Pfdn6 G A 17: 33,939,077 (GRCm38) R73W probably benign Het
Phyhipl A C 10: 70,559,761 (GRCm38) M205R possibly damaging Het
Pitpnm1 C T 19: 4,107,973 (GRCm38) probably null Het
Plcg1 A G 2: 160,752,578 (GRCm38) probably null Het
Pnldc1 A G 17: 12,906,505 (GRCm38) S81P possibly damaging Het
Pno1 T C 11: 17,204,519 (GRCm38) I221V possibly damaging Het
Porcn A G X: 8,204,301 (GRCm38) V75A probably damaging Het
Prkcg T A 7: 3,305,346 (GRCm38) C69S probably damaging Het
Rbbp6 G T 7: 122,999,488 (GRCm38) probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Scly A G 1: 91,320,169 (GRCm38) D413G probably damaging Het
Scn11a G A 9: 119,780,795 (GRCm38) R996* probably null Het
Slc6a13 A T 6: 121,332,373 (GRCm38) D281V probably damaging Het
Slfn5 T C 11: 82,956,616 (GRCm38) V109A probably benign Het
Smyd1 A T 6: 71,312,719 (GRCm38) probably null Het
Snx29 T A 16: 11,367,724 (GRCm38) M57K probably benign Het
Stag1 T G 9: 100,888,086 (GRCm38) I603S probably benign Het
Svep1 C A 4: 58,097,292 (GRCm38) C1417F possibly damaging Het
Tbc1d23 T C 16: 57,189,351 (GRCm38) I392V probably benign Het
Tchh T C 3: 93,446,799 (GRCm38) L1182P unknown Het
Tle3 T A 9: 61,394,633 (GRCm38) V108E probably damaging Het
Tmem144 T C 3: 79,825,400 (GRCm38) probably null Het
Tpr T G 1: 150,419,907 (GRCm38) L894V possibly damaging Het
Trappc9 A T 15: 73,000,025 (GRCm38) V472E probably damaging Het
Trim38 T C 13: 23,791,098 (GRCm38) V340A probably damaging Het
Ttc37 T C 13: 76,134,815 (GRCm38) V752A probably benign Het
Ttn A T 2: 76,811,243 (GRCm38) L5176Q possibly damaging Het
Vmn1r12 T A 6: 57,159,509 (GRCm38) I197N possibly damaging Het
Vmn1r26 T C 6: 58,009,126 (GRCm38) Y26C possibly damaging Het
Xirp1 C T 9: 120,018,591 (GRCm38) E409K probably benign Het
Zc3h14 T G 12: 98,763,922 (GRCm38) I46R probably damaging Het
Zfp976 A G 7: 42,613,841 (GRCm38) C191R 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
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
R6102:Vwa3a UTSW 7 120,776,138 (GRCm38) splice site probably null
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'- CACAACCCTTGGATATCTGGTG -3'
(R):5'- AAGCCTTGACTTGAAGTGGTG -3'

Sequencing Primer
(F):5'- CCTTGGATATCTGGTGACGGGAAC -3'
(R):5'- CCTTGACTTGAAGTGGTGGATGG -3'
Posted On 2014-08-25