Mutagenetix > Incidental Mutation

Incidental Mutation 'R2303:Vwde'

244491

Institutional Source

Beutler Lab

Gene Symbol

Vwde

Ensembl Gene

ENSMUSG00000079679

Gene Name

von Willebrand factor D and EGF domains

Synonyms

LOC232585

MMRRC Submission

040302-MU

Accession Numbers

Essential gene?

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

Stock #

R2303 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13156439-13224964 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 13215806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054530] [ENSMUST00000203074]

AlphaFold

Q6DFV8

Predicted Effect

probably benign
Transcript: ENSMUST00000054530

SMART Domains

Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Blast:ZP	58	163	1e-5	BLAST
low complexity region	192	199	N/A	INTRINSIC
VWD	420	588	1.51e-4	SMART
low complexity region	638	651	N/A	INTRINSIC
Blast:EGF_like	890	918	2e-9	BLAST

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930583I09Rik	T	G	17: 65,141,561 (GRCm39)	D14A	unknown	Het
Aars1	C	A	8: 111,779,134 (GRCm39)	T756K	possibly damaging	Het
Abca9	A	T	11: 110,049,052 (GRCm39)	M252K	probably benign	Het
Acan	A	G	7: 78,749,705 (GRCm39)	E1492G	probably benign	Het
Arid1a	C	A	4: 133,414,562 (GRCm39)	R1223L	unknown	Het
Ash1l	T	C	3: 88,933,733 (GRCm39)	L2003S	probably damaging	Het
Cct8	A	T	16: 87,287,220 (GRCm39)		probably null	Het
Dagla	T	C	19: 10,229,467 (GRCm39)	T598A	probably damaging	Het
Ercc3	A	G	18: 32,378,600 (GRCm39)	I194V	probably benign	Het
Fbxo46	A	G	7: 18,870,541 (GRCm39)	N387D	possibly damaging	Het
Fn1	C	T	1: 71,653,195 (GRCm39)		probably null	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gnrhr	C	T	5: 86,345,608 (GRCm39)	G26D	probably benign	Het
Hmcn1	A	T	1: 150,579,977 (GRCm39)	L1920Q	probably damaging	Het
Kank2	T	A	9: 21,681,061 (GRCm39)	I823F	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Mfsd6	T	A	1: 52,715,672 (GRCm39)	N535I	probably damaging	Het
Mgat5	T	C	1: 127,374,036 (GRCm39)	Y479H	probably benign	Het
Ncoa7	G	A	10: 30,530,431 (GRCm39)	T701I	probably damaging	Het
Or6c2	T	C	10: 129,362,918 (GRCm39)	V274A	probably benign	Het
Pcdh18	T	C	3: 49,709,723 (GRCm39)	R531G	probably damaging	Het
Pcdhb6	A	G	18: 37,469,284 (GRCm39)	H51R	probably damaging	Het
Pdik1l	G	A	4: 134,011,559 (GRCm39)	Q95*	probably null	Het
Ppp4r3b	A	T	11: 29,150,741 (GRCm39)	H469L	possibly damaging	Het
Prnp	A	G	2: 131,779,046 (GRCm39)	T233A	probably benign	Het
Rcan1	T	C	16: 92,190,484 (GRCm39)	T152A	possibly damaging	Het
Sema3g	T	C	14: 30,944,572 (GRCm39)	F329L	probably damaging	Het
Setd1a	G	A	7: 127,398,327 (GRCm39)		probably benign	Het
Slc40a1	G	A	1: 45,950,044 (GRCm39)		probably benign	Het
Slco5a1	C	T	1: 12,949,486 (GRCm39)	G635S	probably damaging	Het
Spg11	C	T	2: 121,899,318 (GRCm39)	C1589Y	probably damaging	Het
Stab1	T	C	14: 30,868,027 (GRCm39)	T1616A	probably damaging	Het
Trappc11	A	G	8: 47,956,451 (GRCm39)	Y842H	probably damaging	Het
Zcchc8	A	G	5: 123,838,660 (GRCm39)	L626P	probably benign	Het
Zfhx4	A	G	3: 5,462,120 (GRCm39)	H1240R	probably damaging	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
C9142:Vwde	UTSW	6	13,168,053 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGTTTCTTACAGACACAGGG -3'
(R):5'- TCCTGATATGTTGGCTGATTTAAC -3'

Sequencing Primer
(F):5'- CAGTTTCTTACAGACACAGGGATTTG -3'
(R):5'- ACCACTATTAGGATGCTGGGATCC -3'

Posted On

2014-10-30