Incidental Mutation 'IGL01364:Vwa1'
ID75894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vwa1
Ensembl Gene ENSMUSG00000042116
Gene Namevon Willebrand factor A domain containing 1
Synonyms4932416A11Rik, WARP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01364
Quality Score
Status
Chromosome4
Chromosomal Location155768149-155774698 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 155770743 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000040405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042196]
Predicted Effect probably null
Transcript: ENSMUST00000042196
SMART Domains Protein: ENSMUSP00000040405
Gene: ENSMUSG00000042116

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
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430573F11Rik A G 8: 36,512,347 K368R probably benign Het
Aco1 C A 4: 40,181,380 probably null Het
Acot6 T C 12: 84,101,066 V32A possibly damaging Het
Aff3 A T 1: 38,535,681 L73I probably damaging Het
Aldh1l2 C A 10: 83,492,667 D729Y probably damaging Het
Alox15 T C 11: 70,345,166 Q525R possibly damaging Het
Atr T C 9: 95,865,624 Y320H probably benign Het
Atxn3 C T 12: 101,934,423 probably benign Het
Caprin2 C A 6: 148,873,028 S262I probably benign Het
Ccar1 T C 10: 62,776,874 probably null Het
Ccdc14 T A 16: 34,723,213 L647H probably damaging Het
Cd300lf T C 11: 115,126,350 D49G probably benign Het
Csmd2 A G 4: 128,414,288 T1280A probably benign Het
Ddb1 T C 19: 10,627,660 probably null Het
Dnah9 A G 11: 66,155,459 Y88H probably damaging Het
Enpp1 T C 10: 24,664,614 T351A probably damaging Het
Evi2b T A 11: 79,516,623 Y42F probably benign Het
Fdps A T 3: 89,094,270 C274* probably null Het
Flnb A C 14: 7,934,562 probably null Het
Herc1 T A 9: 66,399,361 V917E probably benign Het
Hmcn2 C T 2: 31,361,814 Q854* probably null Het
Hmgxb3 T C 18: 61,146,434 Y769C probably damaging Het
Hps3 G T 3: 20,003,305 Q772K possibly damaging Het
Ifnab T C 4: 88,690,750 S160G probably damaging Het
Kalrn T C 16: 34,262,629 E652G probably damaging Het
Kat6a T C 8: 22,907,700 L255S probably damaging Het
Kbtbd7 T A 14: 79,428,046 D439E possibly damaging Het
Kcnn4 T C 7: 24,381,703 F289L probably benign Het
Mapk6 A C 9: 75,388,790 D475E possibly damaging Het
Msh5 A G 17: 35,028,769 V825A possibly damaging Het
Mst1 A G 9: 108,081,601 I111V probably benign Het
Myo1h T A 5: 114,348,439 I586N probably damaging Het
Olfr1280 G T 2: 111,315,670 A64S probably damaging Het
Panx1 C T 9: 15,021,465 V80M probably damaging Het
Polr3b T A 10: 84,695,669 I803N probably benign Het
Rasa4 T C 5: 136,095,571 V158A possibly damaging Het
Rbp3 T A 14: 33,954,188 M31K possibly damaging Het
Rpl3l A G 17: 24,732,430 K154E probably benign Het
Sec24a A T 11: 51,713,529 probably null Het
Sox5 C T 6: 144,116,472 M151I probably damaging Het
Sun1 T A 5: 139,234,741 L290Q probably damaging Het
Tm9sf2 T A 14: 122,143,460 I155N probably damaging Het
Tuft1 A G 3: 94,635,503 probably benign Het
Ubash3b A G 9: 41,018,015 probably null Het
Wnk1 T C 6: 119,937,411 E80G probably damaging Het
Xpot C A 10: 121,604,494 A611S probably benign Het
Other mutations in Vwa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01611:Vwa1 APN 4 155770798 missense possibly damaging 0.64
R1174:Vwa1 UTSW 4 155773266 missense probably damaging 0.96
R1433:Vwa1 UTSW 4 155772901 missense probably damaging 0.99
R1953:Vwa1 UTSW 4 155773114 missense probably damaging 1.00
R2006:Vwa1 UTSW 4 155770850 missense probably benign
R2105:Vwa1 UTSW 4 155772793 missense probably damaging 1.00
R2346:Vwa1 UTSW 4 155773069 missense probably benign 0.00
R3891:Vwa1 UTSW 4 155773194 missense probably damaging 1.00
R4919:Vwa1 UTSW 4 155770600 missense probably benign 0.10
R5285:Vwa1 UTSW 4 155770895 missense probably benign 0.38
R5320:Vwa1 UTSW 4 155770912 missense probably benign 0.00
R5554:Vwa1 UTSW 4 155773238 missense probably damaging 1.00
R5666:Vwa1 UTSW 4 155774465 missense probably damaging 1.00
R5670:Vwa1 UTSW 4 155774465 missense probably damaging 1.00
R6433:Vwa1 UTSW 4 155772769 missense probably benign 0.07
Posted On2013-10-07