Mutagenetix > Incidental Mutation

Incidental Mutation 'R3439:Vwde'

267314

Institutional Source

Beutler Lab

Gene Symbol

Vwde

Ensembl Gene

ENSMUSG00000079679

Gene Name

von Willebrand factor D and EGF domains

Synonyms

LOC232585

MMRRC Submission

040657-MU

Accession Numbers

Essential gene?

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

Stock #

R3439 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

13156439-13224964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13208374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 169 (L169F)

Ref Sequence

ENSEMBL: ENSMUSP00000058110 (fasta)

Gene Model

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

AlphaFold

Q6DFV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000054530
AA Change: L169F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: L169F

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
AA Change: L169F

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: L169F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204339

Meta Mutation Damage Score

0.0960

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt2	C	A	15: 10,381,511 (GRCm39)	P255Q	probably benign	Het
Cdcp3	T	C	7: 130,790,508 (GRCm39)		probably null	Het
Dnah10	T	C	5: 124,873,322 (GRCm39)	Y2458H	possibly damaging	Het
Dnhd1	A	G	7: 105,343,992 (GRCm39)	T1779A	probably damaging	Het
Glb1l	A	T	1: 75,179,264 (GRCm39)	C222S	probably damaging	Het
Gnb1l	A	G	16: 18,371,117 (GRCm39)	T203A	probably benign	Het
Helq	T	C	5: 100,946,170 (GRCm39)	E57G	probably damaging	Het
Kng2	T	C	16: 22,830,821 (GRCm39)	I163V	probably benign	Het
Larp7-ps	A	C	4: 92,079,919 (GRCm39)	V23G	possibly damaging	Het
Lingo1	T	C	9: 56,528,017 (GRCm39)	T191A	probably benign	Het
Lrrc37a	G	A	11: 103,388,690 (GRCm39)	T2245I	unknown	Het
Med13	T	C	11: 86,176,123 (GRCm39)	D1624G	probably damaging	Het
Mthfsd	A	G	8: 121,825,860 (GRCm39)	V218A	possibly damaging	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Nom1	T	C	5: 29,640,615 (GRCm39)	S314P	probably benign	Het
Nwd2	G	A	5: 63,961,895 (GRCm39)	R493H	probably benign	Het
Or4f58	T	C	2: 111,851,792 (GRCm39)	M136V	possibly damaging	Het
Or5an11	A	T	19: 12,245,759 (GRCm39)	H55L	possibly damaging	Het
Palm	C	T	10: 79,652,618 (GRCm39)		probably benign	Het
Pitpnm1	A	G	19: 4,162,752 (GRCm39)	E1115G	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prrc2b	T	C	2: 32,096,359 (GRCm39)	F577L	probably benign	Het
Rnpepl1	A	T	1: 92,844,662 (GRCm39)	T385S	possibly damaging	Het
Serpinb7	A	T	1: 107,356,081 (GRCm39)	I35F	probably damaging	Het
Srbd1	C	T	17: 86,365,187 (GRCm39)	S623N	probably benign	Het
Tchh	A	G	3: 93,354,700 (GRCm39)	E1380G	unknown	Het
Tet2	G	T	3: 133,172,592 (GRCm39)	A1890D	possibly damaging	Het
Tfr2	G	T	5: 137,572,913 (GRCm39)	V215F	probably benign	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		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
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
R2303:Vwde	UTSW	6	13,215,806 (GRCm39)	splice site	probably benign
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'- CCTCAGAGATATGTTCTACACACATA -3'
(R):5'- CATCTTTGATTGTATCCTTAAAGGGG -3'

Sequencing Primer
(F):5'- GACTGGTAATGCTTGCCTAA -3'
(R):5'- ATAAGACTTAGCTGCAGTCCCTGG -3'

Posted On

2015-02-18