Incidental Mutation 'IGL01066:Vwc2l'
ID 50185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vwc2l
Ensembl Gene ENSMUSG00000045648
Gene Name von Willebrand factor C domain-containing protein 2-like
Synonyms brorin-like, A830006F12Rik, Brl
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01066
Quality Score
Status
Chromosome 1
Chromosomal Location 70725715-70885397 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70728911 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 45 (F45L)
Ref Sequence ENSEMBL: ENSMUSP00000125014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053922] [ENSMUST00000065425] [ENSMUST00000161937] [ENSMUST00000162182]
AlphaFold Q505H4
Predicted Effect probably damaging
Transcript: ENSMUST00000053922
AA Change: F45L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058142
Gene: ENSMUSG00000045648
AA Change: F45L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWC 53 109 4.18e0 SMART
VWC 116 171 2.49e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065425
SMART Domains Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
coiled coil region 146 190 N/A INTRINSIC
WD40 349 388 7.8e-2 SMART
WD40 391 430 6.23e-10 SMART
WD40 433 472 1.34e-9 SMART
WD40 475 514 1.92e-10 SMART
WD40 517 556 2.38e-6 SMART
WD40 559 598 1.42e2 SMART
WD40 600 639 4.83e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161310
Predicted Effect probably damaging
Transcript: ENSMUST00000161937
AA Change: F45L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125014
Gene: ENSMUSG00000045648
AA Change: F45L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:VWC_def 53 109 2e-35 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000162182
SMART Domains Protein: ENSMUSP00000123819
Gene: ENSMUSG00000045648

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:VWC_def 33 62 4e-12 BLAST
VWC 69 124 2.49e-5 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
2300003K06Rik T A 11: 99,837,628 R130* probably null Het
9030624J02Rik T A 7: 118,773,011 probably null Het
Abca12 T A 1: 71,353,730 R117W possibly damaging Het
Agrn A G 4: 156,177,343 S497P probably benign Het
Alpk1 A T 3: 127,680,225 S710T probably benign Het
Anapc4 T A 5: 52,857,209 N471K probably benign Het
Ano3 A T 2: 110,661,445 M879K probably null Het
Apoe A G 7: 19,696,600 L239P probably damaging Het
Ash1l T C 3: 88,984,635 Y1274H probably damaging Het
B3glct C T 5: 149,709,425 T80I possibly damaging Het
Casc1 C T 6: 145,176,222 G624S probably damaging Het
Ccdc146 T C 5: 21,319,542 T271A probably benign Het
Chd8 T A 14: 52,217,766 N1088I probably damaging Het
Csnk1g2 T C 10: 80,634,647 probably benign Het
Daxx T A 17: 33,913,893 V627D probably benign Het
Dpy19l3 A G 7: 35,692,767 probably benign Het
Enc1 A G 13: 97,245,314 I111V probably benign Het
Ep400 A G 5: 110,668,199 probably benign Het
Fig4 T C 10: 41,285,417 probably benign Het
Fkbp7 A T 2: 76,672,908 L36* probably null Het
Fxn A T 19: 24,267,298 probably benign Het
Gm10152 C T 7: 144,763,256 P16L unknown Het
Hivep2 T C 10: 14,149,024 V2194A possibly damaging Het
Hook3 T G 8: 26,048,298 E525A probably damaging Het
Icam1 A G 9: 21,016,105 probably null Het
Ifngr1 C T 10: 19,609,198 T315I probably damaging Het
Igsf10 A G 3: 59,327,782 probably null Het
Krt87 A G 15: 101,438,385 probably null Het
Lama1 T A 17: 67,743,326 C311S probably damaging Het
Lig3 T A 11: 82,797,315 M714K possibly damaging Het
Lrmp T C 6: 145,160,955 S222P probably damaging Het
Lypd5 C T 7: 24,353,485 T189I probably benign Het
Mapk8ip3 C T 17: 24,901,718 G807D probably benign Het
Met T C 6: 17,535,105 probably null Het
Nlrp4g C A 9: 124,349,526 noncoding transcript Het
Nlrp6 T A 7: 140,921,796 V62D possibly damaging Het
Nme7 A G 1: 164,345,430 probably null Het
Olfr1034 A G 2: 86,047,258 R259G probably damaging Het
Olfr1392 T C 11: 49,293,630 I103T possibly damaging Het
Olfr507 T C 7: 108,621,857 F15S probably damaging Het
Pcnx G A 12: 81,992,021 R2020Q possibly damaging Het
Pdzd2 T A 15: 12,402,632 probably benign Het
Pi4ka A G 16: 17,348,773 probably benign Het
Pkdrej T G 15: 85,816,159 I1859L probably benign Het
Plcg1 A T 2: 160,754,398 H638L probably damaging Het
Polr1b C T 2: 129,119,152 S677L probably damaging Het
Ppef2 A G 5: 92,234,237 L533P probably damaging Het
Sh3rf1 T A 8: 61,329,336 W171R probably damaging Het
Son T C 16: 91,660,136 probably benign Het
Sycp1 A G 3: 102,920,634 S266P probably damaging Het
Tedc1 A G 12: 113,163,150 E344G probably damaging Het
Tkfc T C 19: 10,594,528 I381M probably benign Het
Tmprss6 T C 15: 78,442,434 D1G probably null Het
Ttn T C 2: 76,752,426 T22708A probably damaging Het
Ubtf T C 11: 102,308,884 probably benign Het
Xpo7 T C 14: 70,701,755 T154A probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in Vwc2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Vwc2l APN 1 70729004 splice site probably null
IGL01875:Vwc2l APN 1 70729013 missense probably benign 0.02
R0098:Vwc2l UTSW 1 70729131 missense probably damaging 1.00
R3617:Vwc2l UTSW 1 70728882 splice site probably null
R4533:Vwc2l UTSW 1 70882139 missense probably damaging 0.97
R5002:Vwc2l UTSW 1 70729046 missense probably damaging 0.97
R5345:Vwc2l UTSW 1 70728918 missense probably damaging 1.00
R5790:Vwc2l UTSW 1 70750983 missense probably damaging 0.98
R6196:Vwc2l UTSW 1 70729021 missense probably damaging 0.99
R7104:Vwc2l UTSW 1 70729093 nonsense probably null
R8863:Vwc2l UTSW 1 70728904 missense possibly damaging 0.63
R9373:Vwc2l UTSW 1 70729059 missense probably damaging 0.97
R9411:Vwc2l UTSW 1 70728821 missense probably benign 0.43
Z1177:Vwc2l UTSW 1 70728967 missense probably damaging 1.00
Posted On 2013-06-21