Incidental Mutation 'IGL02671:Vwa5b1'
ID302916
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vwa5b1
Ensembl Gene ENSMUSG00000028753
Gene Namevon Willebrand factor A domain containing 5B1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02671
Quality Score
Status
Chromosome4
Chromosomal Location138565360-138635884 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 138569126 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 1197 (R1197*)
Ref Sequence ENSEMBL: ENSMUSP00000030533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030533]
Predicted Effect probably null
Transcript: ENSMUST00000030533
AA Change: R1197*
SMART Domains Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: R1197*

DomainStartEndE-ValueType
Pfam:VIT_2 2 79 2e-28 PFAM
Pfam:VIT 15 138 1.5e-7 PFAM
VWA 351 513 6.04e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137206
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A T 10: 77,980,550 probably benign Het
9030612E09Rik T A 10: 43,174,891 H60Q probably benign Het
Agrn C T 4: 156,174,561 probably benign Het
Angpt1 C T 15: 42,676,394 R23H possibly damaging Het
Cadps T A 14: 12,491,824 E775D probably damaging Het
Cdc42bpa T A 1: 180,061,822 M211K probably benign Het
Clec16a A G 16: 10,627,381 M77V probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp27b1 G T 10: 127,051,043 probably null Het
Eef1d A G 15: 75,895,805 I240T probably damaging Het
Fras1 T A 5: 96,728,616 F2403I possibly damaging Het
Ighv1-47 C T 12: 114,991,398 V21I possibly damaging Het
Kank1 T C 19: 25,428,095 L1159P probably damaging Het
Kif12 T C 4: 63,170,457 E202G probably benign Het
Kif17 A G 4: 138,288,061 D315G possibly damaging Het
Mcam T C 9: 44,137,034 probably benign Het
Mpdz A T 4: 81,290,273 D1778E probably damaging Het
Numbl C T 7: 27,264,902 R46W probably damaging Het
Olfr213 C T 6: 116,541,143 T230I possibly damaging Het
Olfr366 A T 2: 37,220,245 Y252F probably damaging Het
Pde3b T C 7: 114,523,345 V716A possibly damaging Het
Plcg1 T A 2: 160,755,752 Y771* probably null Het
Pramel5 A G 4: 144,273,112 V135A probably benign Het
Slu7 A G 11: 43,445,475 probably null Het
Taf2 C T 15: 55,034,176 V919I probably benign Het
Tcf12 G A 9: 72,109,717 T36M probably damaging Het
Tlr11 A T 14: 50,360,692 D45V probably damaging Het
Tmem132b A G 5: 125,778,727 T508A probably damaging Het
Trf C T 9: 103,211,982 E569K probably benign Het
Trim24 T C 6: 37,960,784 C875R probably damaging Het
Usf3 A G 16: 44,221,781 N2208S probably damaging Het
Usp14 A G 18: 9,997,196 V436A probably damaging Het
Other mutations in Vwa5b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01952:Vwa5b1 APN 4 138581217 missense probably benign 0.08
IGL02133:Vwa5b1 APN 4 138586557 critical splice donor site probably null
IGL02379:Vwa5b1 APN 4 138612859 missense probably damaging 1.00
IGL02864:Vwa5b1 APN 4 138608975 missense probably benign 0.00
IGL03076:Vwa5b1 APN 4 138600188 missense probably damaging 1.00
IGL03115:Vwa5b1 APN 4 138600149 missense possibly damaging 0.93
IGL03119:Vwa5b1 APN 4 138606541 missense probably benign 0.01
PIT4283001:Vwa5b1 UTSW 4 138600263 missense probably damaging 1.00
R0114:Vwa5b1 UTSW 4 138608858 nonsense probably null
R0157:Vwa5b1 UTSW 4 138604879 missense probably benign 0.00
R0528:Vwa5b1 UTSW 4 138594351 missense probably damaging 1.00
R0562:Vwa5b1 UTSW 4 138635711 splice site probably benign
R0718:Vwa5b1 UTSW 4 138608824 missense probably damaging 1.00
R1555:Vwa5b1 UTSW 4 138605477 missense probably benign 0.02
R1573:Vwa5b1 UTSW 4 138604873 missense probably damaging 1.00
R1857:Vwa5b1 UTSW 4 138569102 missense probably damaging 1.00
R1883:Vwa5b1 UTSW 4 138575389 missense probably damaging 0.96
R1906:Vwa5b1 UTSW 4 138600236 missense possibly damaging 0.93
R1913:Vwa5b1 UTSW 4 138592020 nonsense probably null
R2121:Vwa5b1 UTSW 4 138588569 missense probably benign 0.00
R2213:Vwa5b1 UTSW 4 138604812 missense probably benign 0.00
R2355:Vwa5b1 UTSW 4 138591910 critical splice donor site probably null
R2655:Vwa5b1 UTSW 4 138594303 missense probably damaging 1.00
R4134:Vwa5b1 UTSW 4 138594330 missense possibly damaging 0.69
R4135:Vwa5b1 UTSW 4 138594330 missense possibly damaging 0.69
R4635:Vwa5b1 UTSW 4 138610839 missense possibly damaging 0.82
R4773:Vwa5b1 UTSW 4 138581755 missense probably benign 0.01
R4832:Vwa5b1 UTSW 4 138605540 missense probably damaging 1.00
R4906:Vwa5b1 UTSW 4 138610747 missense probably benign 0.03
R4916:Vwa5b1 UTSW 4 138594262 missense possibly damaging 0.81
R4995:Vwa5b1 UTSW 4 138608843 missense probably damaging 1.00
R5573:Vwa5b1 UTSW 4 138608890 missense probably damaging 1.00
R5872:Vwa5b1 UTSW 4 138578651 missense possibly damaging 0.63
R6255:Vwa5b1 UTSW 4 138578672 missense probably benign 0.00
R6811:Vwa5b1 UTSW 4 138592103 missense probably benign 0.00
R6901:Vwa5b1 UTSW 4 138586569 missense probably benign
R7144:Vwa5b1 UTSW 4 138605431 critical splice donor site probably null
R7146:Vwa5b1 UTSW 4 138581612 missense probably benign 0.00
R7159:Vwa5b1 UTSW 4 138575422 missense possibly damaging 0.56
R7362:Vwa5b1 UTSW 4 138594312 missense probably damaging 1.00
R7690:Vwa5b1 UTSW 4 138590933 missense probably damaging 0.98
R7908:Vwa5b1 UTSW 4 138569170 nonsense probably null
R7965:Vwa5b1 UTSW 4 138605489 missense probably damaging 1.00
Z1177:Vwa5b1 UTSW 4 138612838 missense probably damaging 1.00
Posted On2015-04-16