Mutagenetix > Incidental Mutation

Incidental Mutation 'C9142:Vwde'

165

Institutional Source

Beutler Lab

Gene Symbol

Vwde

Ensembl Gene

ENSMUSG00000079679

Gene Name

von Willebrand factor D and EGF domains

Synonyms

LOC232585

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

C9142 (G3) of strain Muskatenwein

Quality Score

Status

Validated

Chromosome

Chromosomal Location

13156439-13224964 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 13168053 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000203074]

AlphaFold

Q6DFV8

Predicted Effect

probably benign
Transcript: ENSMUST00000203074

SMART Domains

Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	192	199	N/A	INTRINSIC
VWD	420	588	7.4e-7	SMART
low complexity region	638	651	N/A	INTRINSIC
EGF_like	890	918	1.5e-1	SMART
EGF	1166	1217	8.5e-6	SMART
EGF_like	1182	1233	2.7e-2	SMART
EGF	1222	1254	9.7e-7	SMART
EGF_CA	1256	1295	5.3e-12	SMART
EGF	1446	1483	5e-2	SMART
EGF	1485	1514	3.8e-3	SMART
EGF	1517	1546	3.6e-3	SMART
EGF	1549	1578	8e-7	SMART
EGF	1581	1610	3.4e-3	SMART
EGF	1613	1642	1.5e-3	SMART
EGF	1645	1674	1.1e-5	SMART
EGF	1677	1706	2.5e-4	SMART
EGF	1709	1738	2.5e-3	SMART
EGF	1741	1770	1.8e-2	SMART

Coding Region Coverage

1x: 84.8%
3x: 59.3%

Validation Efficiency

82% (72/88)

Allele List at MGI

Other mutations in this stock

Total: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	A	G	2: 168,026,327 (GRCm39)	S323P	probably damaging	Het
Cc2d2a	A	G	5: 43,892,799 (GRCm39)		probably benign	Homo
Chrm5	A	G	2: 112,310,556 (GRCm39)	F187L	probably damaging	Het
Fmnl3	T	C	15: 99,235,508 (GRCm39)		probably null	Het
Klf7	C	T	1: 64,118,316 (GRCm39)	A94T	possibly damaging	Het
Nf1	C	T	11: 79,447,557 (GRCm39)	R2433C	probably damaging	Het
Pdlim3	A	T	8: 46,349,869 (GRCm39)	M60L	probably benign	Het

Other mutations in Vwde

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Vwde	APN	6	13,187,411 (GRCm39)	missense	probably benign	0.00
IGL01391:Vwde	APN	6	13,190,526 (GRCm39)	missense	probably benign	0.07
IGL01432:Vwde	APN	6	13,193,239 (GRCm39)	missense	probably benign	0.18
IGL01611:Vwde	APN	6	13,219,977 (GRCm39)	missense	probably damaging	1.00
IGL01835:Vwde	APN	6	13,186,823 (GRCm39)	missense	probably benign	0.43
IGL01993:Vwde	APN	6	13,219,977 (GRCm39)	missense	possibly damaging	0.89
IGL01997:Vwde	APN	6	13,215,705 (GRCm39)	missense	probably damaging	1.00
IGL02390:Vwde	APN	6	13,190,684 (GRCm39)	missense	probably damaging	1.00
IGL02612:Vwde	APN	6	13,187,148 (GRCm39)	missense	probably damaging	1.00
IGL02723:Vwde	APN	6	13,205,759 (GRCm39)	missense	probably damaging	0.99
IGL02731:Vwde	APN	6	13,192,613 (GRCm39)	missense	probably damaging	1.00
IGL02869:Vwde	APN	6	13,187,136 (GRCm39)	missense	probably damaging	1.00
IGL02981:Vwde	APN	6	13,193,112 (GRCm39)	missense	possibly damaging	0.84
IGL03031:Vwde	APN	6	13,208,381 (GRCm39)	missense	probably benign	0.10
IGL03180:Vwde	APN	6	13,205,764 (GRCm39)	missense	probably damaging	1.00
IGL03182:Vwde	APN	6	13,187,138 (GRCm39)	missense	probably damaging	1.00
willy_brandt	UTSW	6	13,208,404 (GRCm39)	splice site	probably null
R0089:Vwde	UTSW	6	13,220,004 (GRCm39)	missense	probably damaging	1.00
R0244:Vwde	UTSW	6	13,193,125 (GRCm39)	missense	probably benign	0.16
R0355:Vwde	UTSW	6	13,187,806 (GRCm39)	splice site	probably benign
R0455:Vwde	UTSW	6	13,187,528 (GRCm39)	missense	probably benign	0.03
R0465:Vwde	UTSW	6	13,215,805 (GRCm39)	splice site	probably benign
R0946:Vwde	UTSW	6	13,187,874 (GRCm39)	missense	probably damaging	1.00
R1087:Vwde	UTSW	6	13,186,803 (GRCm39)	missense	probably damaging	1.00
R1236:Vwde	UTSW	6	13,187,152 (GRCm39)	nonsense	probably null
R1738:Vwde	UTSW	6	13,190,723 (GRCm39)	missense	probably damaging	1.00
R1891:Vwde	UTSW	6	13,187,454 (GRCm39)	missense	probably damaging	0.98
R2014:Vwde	UTSW	6	13,208,337 (GRCm39)	missense	possibly damaging	0.91
R2015:Vwde	UTSW	6	13,208,337 (GRCm39)	missense	possibly damaging	0.91
R2303:Vwde	UTSW	6	13,215,806 (GRCm39)	splice site	probably benign
R3439:Vwde	UTSW	6	13,208,374 (GRCm39)	missense	probably damaging	0.98
R3688:Vwde	UTSW	6	13,186,891 (GRCm39)	missense	probably damaging	0.96
R4457:Vwde	UTSW	6	13,196,100 (GRCm39)	missense	probably damaging	1.00
R4755:Vwde	UTSW	6	13,205,851 (GRCm39)	missense	possibly damaging	0.94
R4849:Vwde	UTSW	6	13,196,047 (GRCm39)	missense	possibly damaging	0.92
R4850:Vwde	UTSW	6	13,196,047 (GRCm39)	missense	possibly damaging	0.92
R4851:Vwde	UTSW	6	13,196,047 (GRCm39)	missense	possibly damaging	0.92
R4853:Vwde	UTSW	6	13,215,639 (GRCm39)	missense	probably damaging	1.00
R4951:Vwde	UTSW	6	13,187,138 (GRCm39)	missense	probably damaging	1.00
R5023:Vwde	UTSW	6	13,192,641 (GRCm39)	missense	possibly damaging	0.48
R5057:Vwde	UTSW	6	13,192,641 (GRCm39)	missense	possibly damaging	0.48
R5060:Vwde	UTSW	6	13,208,323 (GRCm39)	splice site	probably null
R5126:Vwde	UTSW	6	13,187,259 (GRCm39)	missense	probably benign	0.04
R5154:Vwde	UTSW	6	13,215,757 (GRCm39)	missense	probably benign	0.01
R5277:Vwde	UTSW	6	13,186,995 (GRCm39)	missense	probably benign	0.03
R5432:Vwde	UTSW	6	13,190,591 (GRCm39)	missense	probably damaging	1.00
R5436:Vwde	UTSW	6	13,190,627 (GRCm39)	missense	probably damaging	1.00
R5472:Vwde	UTSW	6	13,193,117 (GRCm39)	missense	probably benign	0.00
R5518:Vwde	UTSW	6	13,186,937 (GRCm39)	missense	probably benign	0.00
R5791:Vwde	UTSW	6	13,195,985 (GRCm39)	nonsense	probably null
R6045:Vwde	UTSW	6	13,219,935 (GRCm39)	missense	probably damaging	1.00
R6262:Vwde	UTSW	6	13,205,020 (GRCm39)	missense	probably damaging	1.00
R6482:Vwde	UTSW	6	13,205,843 (GRCm39)	missense	probably damaging	1.00
R6500:Vwde	UTSW	6	13,208,404 (GRCm39)	splice site	probably null
R6562:Vwde	UTSW	6	13,193,122 (GRCm39)	missense	possibly damaging	0.84
R6905:Vwde	UTSW	6	13,205,926 (GRCm39)	missense	probably damaging	1.00
R7021:Vwde	UTSW	6	13,186,905 (GRCm39)	missense	probably damaging	1.00
R7103:Vwde	UTSW	6	13,215,799 (GRCm39)	missense	probably benign	0.03
R7356:Vwde	UTSW	6	13,192,641 (GRCm39)	missense	probably damaging	0.96
R7434:Vwde	UTSW	6	13,187,639 (GRCm39)	missense	probably benign	0.00
R7492:Vwde	UTSW	6	13,204,980 (GRCm39)	missense	probably null	1.00
R8026:Vwde	UTSW	6	13,205,782 (GRCm39)	missense	probably benign	0.16
R8544:Vwde	UTSW	6	13,187,652 (GRCm39)	missense	probably benign	0.00
R8557:Vwde	UTSW	6	13,193,136 (GRCm39)	missense	probably damaging	1.00
R8995:Vwde	UTSW	6	13,195,996 (GRCm39)	missense	probably damaging	1.00
R9112:Vwde	UTSW	6	13,205,051 (GRCm39)	missense	possibly damaging	0.48

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at base pair 13118054 in the Genbank genomic region NC_000072 (Build 37.1) for the Vwde gene on Chromosome 6 (ATGATCTTAG ->ATGGTCTTAG). The mutation is located within intron 14, seven nucleotides from the previous exon 14 (from the ATG exon) when using Ensembl record ENSMUSG00000044476. The Vwde transcript contains 20 total exons. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Vwde gene encodes a 926 amino acid secreted protein with evidence at the transcript level that contains one von Willebrand Factor D (VWFD) domain at amino acids 430-490. The human homolog contains EGF-like domains, but these are absent in the mouse (Uniprot Q6DFV8).

Posted On

2010-04-08