Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01875:Vwc2l'

178874

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 #

IGL01875

Quality Score

Status

Chromosome

Chromosomal Location

70764874-70924556 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70768172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 79 (A79S)

Ref Sequence

ENSEMBL: ENSMUSP00000125014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053922] [ENSMUST00000065425] [ENSMUST00000161937] [ENSMUST00000162182]

AlphaFold

Q505H4

Predicted Effect

probably benign
Transcript: ENSMUST00000053922
AA Change: A79S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000058142
Gene: ENSMUSG00000045648
AA Change: A79S

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 benign
Transcript: ENSMUST00000161937
AA Change: A79S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125014
Gene: ENSMUSG00000045648
AA Change: A79S

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	G	11: 102,663,682 (GRCm39)	T287A	probably damaging	Het
Afm	G	T	5: 90,696,742 (GRCm39)		probably benign	Het
Ankrd24	A	G	10: 81,465,571 (GRCm39)		probably benign	Het
Ankrd53	G	T	6: 83,740,031 (GRCm39)	E62*	probably null	Het
Atg4b	A	G	1: 93,706,032 (GRCm39)	S162G	probably damaging	Het
B530045E10Rik	A	T	10: 99,258,177 (GRCm39)		noncoding transcript	Het
Ccng1	A	G	11: 40,643,183 (GRCm39)	V88A	probably benign	Het
Ces1e	T	A	8: 93,950,524 (GRCm39)	M86L	probably benign	Het
Chrne	A	T	11: 70,509,498 (GRCm39)		probably null	Het
Ctsh	T	C	9: 89,946,260 (GRCm39)	S109P	probably damaging	Het
Eif4g1	A	C	16: 20,499,790 (GRCm39)	I420L	probably damaging	Het
Ep300	T	A	15: 81,524,224 (GRCm39)	S1351T	unknown	Het
Fgfr1	A	G	8: 26,063,569 (GRCm39)	M732V	possibly damaging	Het
Gata5	T	G	2: 179,969,138 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm3633	A	T	14: 42,461,234 (GRCm39)	M18K	probably damaging	Het
Gucy1b2	A	G	14: 62,657,595 (GRCm39)	L211P	probably damaging	Het
Hemgn	T	C	4: 46,396,994 (GRCm39)	N81D	possibly damaging	Het
Irs2	A	T	8: 11,056,221 (GRCm39)	M737K	probably damaging	Het
Itgb7	C	A	15: 102,126,430 (GRCm39)	C502F	probably damaging	Het
Jakmip1	G	T	5: 37,278,324 (GRCm39)	A534S	probably damaging	Het
Kidins220	A	G	12: 25,107,728 (GRCm39)	H1636R	probably benign	Het
Kirrel1	T	A	3: 87,003,037 (GRCm39)	I119F	probably damaging	Het
Lrba	T	C	3: 86,217,354 (GRCm39)	V527A	probably damaging	Het
Mitf	A	G	6: 97,994,856 (GRCm39)	E409G	probably benign	Het
Mtrr	T	G	13: 68,720,728 (GRCm39)	K289T	probably damaging	Het
Muc2	A	T	7: 141,306,477 (GRCm39)	I739F	probably damaging	Het
Ncor2	T	C	5: 125,142,934 (GRCm39)	T612A	unknown	Het
Or12e7	T	A	2: 87,287,654 (GRCm39)	N48K	probably damaging	Het
Or1x2	A	T	11: 50,918,202 (GRCm39)	R124S	probably damaging	Het
Or6c213	T	A	10: 129,574,791 (GRCm39)		probably benign	Het
Or8b42	T	A	9: 38,341,594 (GRCm39)	N5K	probably damaging	Het
P4ha3	T	A	7: 99,949,859 (GRCm39)	C109S	probably damaging	Het
Prkd3	T	C	17: 79,264,635 (GRCm39)	E660G	possibly damaging	Het
Rbm4b	G	A	19: 4,812,219 (GRCm39)	M209I	probably benign	Het
Reln	T	A	5: 22,109,715 (GRCm39)	T3132S	probably benign	Het
Selenbp2	T	A	3: 94,605,451 (GRCm39)	D92E	possibly damaging	Het
Slfn8	G	T	11: 82,894,905 (GRCm39)	Q634K	probably benign	Het
Sumo3	A	T	10: 77,449,832 (GRCm39)	I57F	probably benign	Het
Tacr1	A	G	6: 82,533,997 (GRCm39)	Y341C	probably benign	Het
Tlr4	T	A	4: 66,757,726 (GRCm39)	L173Q	probably damaging	Het
Tshz3	C	T	7: 36,469,385 (GRCm39)	T458M	probably damaging	Het
Vmn1r91	T	A	7: 19,835,859 (GRCm39)	C259*	probably null	Het
Vmn2r16	T	C	5: 109,478,277 (GRCm39)	F11L	probably benign	Het
Vmn2r28	T	A	7: 5,484,302 (GRCm39)	M633L	probably benign	Het
Vmn2r35	T	C	7: 7,819,772 (GRCm39)		probably benign	Het
Zfhx2	G	A	14: 55,301,372 (GRCm39)	S2204F	unknown	Het

Other mutations in Vwc2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Vwc2l	APN	1	70,768,070 (GRCm39)	missense	probably damaging	0.96
IGL01328:Vwc2l	APN	1	70,768,163 (GRCm39)	splice site	probably null
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

2014-05-07