Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01066:Vwc2l'

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

Brl, A830006F12Rik, brorin-like

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01066

Quality Score

Status

Chromosome

Chromosomal Location

70764874-70924556 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70768070 bp (GRCm39)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
2300003K06Rik	T	A	11: 99,728,454 (GRCm39)	R130*	probably null	Het
Abca12	T	A	1: 71,392,889 (GRCm39)	R117W	possibly damaging	Het
Agrn	A	G	4: 156,261,800 (GRCm39)	S497P	probably benign	Het
Alpk1	A	T	3: 127,473,874 (GRCm39)	S710T	probably benign	Het
Anapc4	T	A	5: 53,014,551 (GRCm39)	N471K	probably benign	Het
Ano3	A	T	2: 110,491,790 (GRCm39)	M879K	probably null	Het
Apoe	A	G	7: 19,430,525 (GRCm39)	L239P	probably damaging	Het
Ash1l	T	C	3: 88,891,942 (GRCm39)	Y1274H	probably damaging	Het
B3glct	C	T	5: 149,632,890 (GRCm39)	T80I	possibly damaging	Het
Ccdc146	T	C	5: 21,524,540 (GRCm39)	T271A	probably benign	Het
Chd8	T	A	14: 52,455,223 (GRCm39)	N1088I	probably damaging	Het
Csnk1g2	T	C	10: 80,470,481 (GRCm39)		probably benign	Het
Daxx	T	A	17: 34,132,867 (GRCm39)	V627D	probably benign	Het
Dnai7	C	T	6: 145,121,948 (GRCm39)	G624S	probably damaging	Het
Dpy19l3	A	G	7: 35,392,192 (GRCm39)		probably benign	Het
Enc1	A	G	13: 97,381,822 (GRCm39)	I111V	probably benign	Het
Ep400	A	G	5: 110,816,065 (GRCm39)		probably benign	Het
Fig4	T	C	10: 41,161,413 (GRCm39)		probably benign	Het
Fkbp7	A	T	2: 76,503,252 (GRCm39)	L36*	probably null	Het
Fxn	A	T	19: 24,244,662 (GRCm39)		probably benign	Het
Gm10152	C	T	7: 144,316,993 (GRCm39)	P16L	unknown	Het
Hivep2	T	C	10: 14,024,768 (GRCm39)	V2194A	possibly damaging	Het
Hook3	T	G	8: 26,538,326 (GRCm39)	E525A	probably damaging	Het
Icam1	A	G	9: 20,927,401 (GRCm39)		probably null	Het
Ifngr1	C	T	10: 19,484,946 (GRCm39)	T315I	probably damaging	Het
Igsf10	A	G	3: 59,235,203 (GRCm39)		probably null	Het
Irag2	T	C	6: 145,106,681 (GRCm39)	S222P	probably damaging	Het
Krt87	A	G	15: 101,336,266 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,050,321 (GRCm39)	C311S	probably damaging	Het
Lig3	T	A	11: 82,688,141 (GRCm39)	M714K	possibly damaging	Het
Lypd5	C	T	7: 24,052,910 (GRCm39)	T189I	probably benign	Het
Mapk8ip3	C	T	17: 25,120,692 (GRCm39)	G807D	probably benign	Het
Met	T	C	6: 17,535,104 (GRCm39)		probably null	Het
Nlrp4g	C	A	9: 124,349,526 (GRCm38)		noncoding transcript	Het
Nlrp6	T	A	7: 140,501,709 (GRCm39)	V62D	possibly damaging	Het
Nme7	A	G	1: 164,172,999 (GRCm39)		probably null	Het
Or2y1f	T	C	11: 49,184,457 (GRCm39)	I103T	possibly damaging	Het
Or5m9	A	G	2: 85,877,602 (GRCm39)	R259G	probably damaging	Het
Or5p79	T	C	7: 108,221,064 (GRCm39)	F15S	probably damaging	Het
Pcnx1	G	A	12: 82,038,795 (GRCm39)	R2020Q	possibly damaging	Het
Pdzd2	T	A	15: 12,402,718 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,166,637 (GRCm39)		probably benign	Het
Pkdrej	T	G	15: 85,700,360 (GRCm39)	I1859L	probably benign	Het
Plcg1	A	T	2: 160,596,318 (GRCm39)	H638L	probably damaging	Het
Polr1b	C	T	2: 128,961,072 (GRCm39)	S677L	probably damaging	Het
Ppef2	A	G	5: 92,382,096 (GRCm39)	L533P	probably damaging	Het
Sh3rf1	T	A	8: 61,782,370 (GRCm39)	W171R	probably damaging	Het
Son	T	C	16: 91,457,024 (GRCm39)		probably benign	Het
Sycp1	A	G	3: 102,827,950 (GRCm39)	S266P	probably damaging	Het
Tedc1	A	G	12: 113,126,770 (GRCm39)	E344G	probably damaging	Het
Tkfc	T	C	19: 10,571,892 (GRCm39)	I381M	probably benign	Het
Tmprss6	T	C	15: 78,326,634 (GRCm39)	D1G	probably null	Het
Ttn	T	C	2: 76,582,770 (GRCm39)	T22708A	probably damaging	Het
Ubtf	T	C	11: 102,199,710 (GRCm39)		probably benign	Het
Vps35l	T	A	7: 118,372,234 (GRCm39)		probably null	Het
Xpo7	T	C	14: 70,939,195 (GRCm39)	T154A	probably benign	Het
Yars2	C	T	16: 16,124,406 (GRCm39)	R338*	probably null	Het

Other mutations in Vwc2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Vwc2l	APN	1	70,768,163 (GRCm39)	splice site	probably null
IGL01875:Vwc2l	APN	1	70,768,172 (GRCm39)	missense	probably benign	0.02
R0098:Vwc2l	UTSW	1	70,768,290 (GRCm39)	missense	probably damaging	1.00
R3617:Vwc2l	UTSW	1	70,768,041 (GRCm39)	splice site	probably null
R4533:Vwc2l	UTSW	1	70,921,298 (GRCm39)	missense	probably damaging	0.97
R5002:Vwc2l	UTSW	1	70,768,205 (GRCm39)	missense	probably damaging	0.97
R5345:Vwc2l	UTSW	1	70,768,077 (GRCm39)	missense	probably damaging	1.00
R5790:Vwc2l	UTSW	1	70,790,142 (GRCm39)	missense	probably damaging	0.98
R6196:Vwc2l	UTSW	1	70,768,180 (GRCm39)	missense	probably damaging	0.99
R7104:Vwc2l	UTSW	1	70,768,252 (GRCm39)	nonsense	probably null
R8863:Vwc2l	UTSW	1	70,768,063 (GRCm39)	missense	possibly damaging	0.63
R9373:Vwc2l	UTSW	1	70,768,218 (GRCm39)	missense	probably damaging	0.97
R9411:Vwc2l	UTSW	1	70,767,980 (GRCm39)	missense	probably benign	0.43
Z1177:Vwc2l	UTSW	1	70,768,126 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21