Incidental Mutation 'R5554:Vwa1'
ID 435277
Institutional Source Beutler Lab
Gene Symbol Vwa1
Ensembl Gene ENSMUSG00000042116
Gene Name von Willebrand factor A domain containing 1
Synonyms 4932416A11Rik, WARP
MMRRC Submission 043111-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5554 (G1)
Quality Score 216
Status Validated
Chromosome 4
Chromosomal Location 155852952-155859042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 155857695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 34 (D34E)
Ref Sequence ENSEMBL: ENSMUSP00000040405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042196]
AlphaFold Q8R2Z5
Predicted Effect probably damaging
Transcript: ENSMUST00000042196
AA Change: D34E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040405
Gene: ENSMUSG00000042116
AA Change: D34E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
VWA 32 210 3.05e-36 SMART
FN3 212 292 1.95e0 SMART
FN3 305 385 1.4e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180784
Meta Mutation Damage Score 0.8003 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 97% (73/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal motor coordination/balance, increased thermal nociceptive threshold, and altered peripheral nerve structure and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 C A 11: 101,304,807 (GRCm39) R227L probably benign Het
Adamtsl1 A G 4: 86,195,182 (GRCm39) Q533R possibly damaging Het
Adgb C T 10: 10,216,217 (GRCm39) R1524H probably damaging Het
Ank2 A T 3: 126,792,622 (GRCm39) N739K possibly damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Anxa10 G A 8: 62,514,080 (GRCm39) P249L possibly damaging Het
Banp G A 8: 122,718,334 (GRCm39) E183K probably damaging Het
BC051665 C G 13: 60,932,435 (GRCm39) L83F probably damaging Het
Btn1a1 A T 13: 23,643,295 (GRCm39) F385I possibly damaging Het
Chchd4 A T 6: 91,441,999 (GRCm39) *140R probably null Het
Dcpp2 T C 17: 24,119,545 (GRCm39) Y120H probably damaging Het
Dlx2 G A 2: 71,375,805 (GRCm39) R173C possibly damaging Het
Dmbt1 C A 7: 130,701,030 (GRCm39) Y1069* probably null Het
Dop1a T A 9: 86,403,710 (GRCm39) F1637I probably damaging Het
Dusp18 T C 11: 3,847,202 (GRCm39) I64T probably damaging Het
Evi5l A G 8: 4,256,491 (GRCm39) probably benign Het
Fiz1 T C 7: 5,015,849 (GRCm39) H47R probably damaging Het
Fndc3b G T 3: 27,697,162 (GRCm39) P17T possibly damaging Het
Foxa1 T A 12: 57,589,077 (GRCm39) Q381L probably benign Het
Gda A G 19: 21,405,837 (GRCm39) probably null Het
Gm10044 T C 14: 7,771,181 (GRCm38) noncoding transcript Het
Gm12258 T A 11: 58,749,294 (GRCm39) S156R possibly damaging Het
Gm973 A G 1: 59,566,131 (GRCm39) R117G probably benign Het
Grwd1 C T 7: 45,480,064 (GRCm39) V48I probably damaging Het
Ifi209 T A 1: 173,468,763 (GRCm39) S198T probably benign Het
Inka2 T A 3: 105,623,930 (GRCm39) S82R possibly damaging Het
Itga1 A T 13: 115,129,010 (GRCm39) C549* probably null Het
Kmt2c C A 5: 25,499,608 (GRCm39) G511C probably damaging Het
Knstrn T C 2: 118,664,444 (GRCm39) probably benign Het
Lrp2 T C 2: 69,382,768 (GRCm39) Y39C possibly damaging Het
Maco1 T C 4: 134,555,445 (GRCm39) I343V probably benign Het
Micos10 T C 4: 138,833,218 (GRCm39) probably benign Het
N4bp2 T C 5: 65,965,457 (GRCm39) Y1169H probably benign Het
Nbr1 C T 11: 101,455,633 (GRCm39) T129I probably benign Het
Or52e8 A C 7: 104,625,189 (GRCm39) M1R probably null Het
Or5k15 A T 16: 58,710,169 (GRCm39) M138K possibly damaging Het
Or7g25 T C 9: 19,160,039 (GRCm39) I219V probably benign Het
Oxct1 T A 15: 4,120,677 (GRCm39) F254I probably benign Het
Patj T A 4: 98,342,633 (GRCm39) S576T possibly damaging Het
Pdxdc1 A T 16: 13,690,363 (GRCm39) C202S probably benign Het
Pet100 A T 8: 3,672,381 (GRCm39) I19F probably damaging Het
Pik3r5 T C 11: 68,385,059 (GRCm39) Y655H probably damaging Het
Pkhd1 A G 1: 20,151,476 (GRCm39) S3807P probably damaging Het
Ptma A G 1: 86,454,649 (GRCm39) T8A probably damaging Het
Ptpn3 G T 4: 57,240,843 (GRCm39) N257K probably damaging Het
R3hdm1 C A 1: 128,164,409 (GRCm39) Q1108K probably benign Het
Rimbp2 T C 5: 128,857,406 (GRCm39) D815G probably damaging Het
Scn10a A G 9: 119,523,196 (GRCm39) F66L probably benign Het
Selenot T C 3: 58,484,296 (GRCm39) probably null Het
Serpinb8 A G 1: 107,526,705 (GRCm39) T82A probably benign Het
Serpini2 G A 3: 75,175,295 (GRCm39) probably benign Het
Slc1a6 G T 10: 78,631,816 (GRCm39) G214V probably benign Het
Slc5a6 C A 5: 31,195,444 (GRCm39) A425S probably damaging Het
Smo C A 6: 29,736,123 (GRCm39) N38K possibly damaging Het
Smtn A T 11: 3,470,811 (GRCm39) C909* probably null Het
Sntg2 C T 12: 30,308,040 (GRCm39) R215H probably benign Het
Stk4 T A 2: 163,941,645 (GRCm39) V287E probably benign Het
Tdrd7 A G 4: 46,005,358 (GRCm39) D388G possibly damaging Het
Ttn A T 2: 76,642,652 (GRCm39) F13294L probably damaging Het
Ube2j1 T G 4: 33,040,745 (GRCm39) F84V probably damaging Het
Ugt3a1 A G 15: 9,370,287 (GRCm39) Q477R probably damaging Het
Utf1 T C 7: 139,523,859 (GRCm39) S25P probably benign Het
Vmn1r184 A T 7: 25,966,413 (GRCm39) H53L probably damaging Het
Vmn2r13 A T 5: 109,339,860 (GRCm39) N38K possibly damaging Het
Vps13a C T 19: 16,699,775 (GRCm39) D756N probably damaging Het
Zfhx2 A C 14: 55,301,774 (GRCm39) L2070R probably damaging Het
Zfp984 A G 4: 147,840,362 (GRCm39) V163A probably benign Het
Zp3r A T 1: 130,511,208 (GRCm39) M325K probably benign Het
Other mutations in Vwa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Vwa1 APN 4 155,855,200 (GRCm39) critical splice donor site probably null
IGL01611:Vwa1 APN 4 155,855,255 (GRCm39) missense possibly damaging 0.64
R1174:Vwa1 UTSW 4 155,857,723 (GRCm39) missense probably damaging 0.96
R1433:Vwa1 UTSW 4 155,857,358 (GRCm39) missense probably damaging 0.99
R1953:Vwa1 UTSW 4 155,857,571 (GRCm39) missense probably damaging 1.00
R2006:Vwa1 UTSW 4 155,855,307 (GRCm39) missense probably benign
R2105:Vwa1 UTSW 4 155,857,250 (GRCm39) missense probably damaging 1.00
R2346:Vwa1 UTSW 4 155,857,526 (GRCm39) missense probably benign 0.00
R3891:Vwa1 UTSW 4 155,857,651 (GRCm39) missense probably damaging 1.00
R4919:Vwa1 UTSW 4 155,855,057 (GRCm39) missense probably benign 0.10
R5285:Vwa1 UTSW 4 155,855,352 (GRCm39) missense probably benign 0.38
R5320:Vwa1 UTSW 4 155,855,369 (GRCm39) missense probably benign 0.00
R5666:Vwa1 UTSW 4 155,858,922 (GRCm39) missense probably damaging 1.00
R5670:Vwa1 UTSW 4 155,858,922 (GRCm39) missense probably damaging 1.00
R6433:Vwa1 UTSW 4 155,857,226 (GRCm39) missense probably benign 0.07
R8135:Vwa1 UTSW 4 155,857,351 (GRCm39) missense probably damaging 1.00
R8400:Vwa1 UTSW 4 155,857,225 (GRCm39) missense probably benign 0.03
R8784:Vwa1 UTSW 4 155,857,345 (GRCm39) missense probably damaging 1.00
R8965:Vwa1 UTSW 4 155,857,440 (GRCm39) nonsense probably null
R9062:Vwa1 UTSW 4 155,854,820 (GRCm39) missense probably benign
R9306:Vwa1 UTSW 4 155,855,328 (GRCm39) missense probably benign 0.15
R9518:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9519:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9597:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9634:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9697:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9699:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9702:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9703:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9755:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9800:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9801:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATACGTTGGGGTGCAACAC -3'
(R):5'- AGCCCCATTCTGAAGATTCTC -3'

Sequencing Primer
(F):5'- GTATAGCCTGGCCTGAACTGTAC -3'
(R):5'- CTACCTGTATCTTTGGGCAAAGGC -3'
Posted On 2016-10-24