Mutagenetix > Incidental Mutation

Incidental Mutation 'R3688:Vwde'

269611

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 #

R3688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13156439-13224964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13186891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 865 (R865S)

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: R865S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: R865S

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: R865S

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: R865S

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: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,415,968 (GRCm39)	I687T	possibly damaging	Het
A1cf	T	A	19: 31,888,569 (GRCm39)	F100I	probably damaging	Het
Adam12	A	T	7: 133,566,525 (GRCm39)	Y308*	probably null	Het
Adam3	T	C	8: 25,193,864 (GRCm39)	T383A	probably benign	Het
Adcy8	T	C	15: 64,743,556 (GRCm39)	T351A	probably damaging	Het
Atp11c	T	C	X: 59,327,004 (GRCm39)	Y431C	probably benign	Het
Atp7b	T	C	8: 22,494,246 (GRCm39)	H956R	probably damaging	Het
Bptf	C	A	11: 106,965,024 (GRCm39)	R1275L	probably benign	Het
Cept1	G	T	3: 106,427,331 (GRCm39)	N236K	probably benign	Het
Col15a1	C	T	4: 47,258,689 (GRCm39)	T360I	probably benign	Het
Efcab6	G	A	15: 83,755,479 (GRCm39)	Q1323*	probably null	Het
Efl1	T	A	7: 82,412,178 (GRCm39)	S856T	probably benign	Het
Eftud2	T	C	11: 102,735,027 (GRCm39)	E624G	probably damaging	Het
Fat2	T	C	11: 55,171,927 (GRCm39)	T2929A	probably damaging	Het
Gm4884	A	G	7: 40,692,910 (GRCm39)	H293R	possibly damaging	Het
Hdac10	C	T	15: 89,007,767 (GRCm39)		probably null	Het
Il17rd	C	A	14: 26,761,105 (GRCm39)	N15K	probably null	Het
Kcnt1	C	T	2: 25,784,371 (GRCm39)	T258I	probably damaging	Het
Kif5a	T	G	10: 127,078,643 (GRCm39)	N334T	probably damaging	Het
Ksr2	A	G	5: 117,693,044 (GRCm39)	Q164R	probably damaging	Het
Map4k4	T	A	1: 40,024,331 (GRCm39)		probably null	Het
Naa80	T	C	9: 107,460,549 (GRCm39)	V148A	possibly damaging	Het
Or9a2	G	T	6: 41,749,160 (GRCm39)	Y24*	probably null	Het
Pard3b	A	G	1: 62,518,728 (GRCm39)	T938A	probably benign	Het
Pcdhga6	T	A	18: 37,841,594 (GRCm39)	I438N	probably damaging	Het
Pfkm	T	A	15: 98,029,398 (GRCm39)	N697K	probably benign	Het
Prr23a4	A	T	9: 98,785,517 (GRCm39)	M61L	probably benign	Het
Pus10	T	C	11: 23,617,334 (GRCm39)	F16L	probably benign	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rangap1	A	T	15: 81,602,963 (GRCm39)	M154K	possibly damaging	Het
Slc25a17	A	G	15: 81,211,485 (GRCm39)	F177S	probably benign	Het
Slc34a2	G	A	5: 53,222,174 (GRCm39)	G289S	probably benign	Het
Strn4	A	G	7: 16,556,506 (GRCm39)	Y123C	probably damaging	Het
Swt1	A	T	1: 151,267,240 (GRCm39)	M647K	probably damaging	Het
Trpm5	A	G	7: 142,632,193 (GRCm39)	V872A	probably damaging	Het
Ubqln4	T	C	3: 88,470,466 (GRCm39)	S313P	probably damaging	Het
Vmn1r17	T	A	6: 57,337,544 (GRCm39)	T225S	probably damaging	Het
Vmn2r75	T	A	7: 85,797,629 (GRCm39)	H728L	probably damaging	Het
Vps33a	T	C	5: 123,673,274 (GRCm39)		probably null	Het
Zfp408	T	A	2: 91,476,777 (GRCm39)	M126L	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
R3439:Vwde	UTSW	6	13,208,374 (GRCm39)	missense	probably damaging	0.98
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'- ACCATACGAATGACTGCAGTC -3'
(R):5'- TTTTCCCTGAGGACCACACTG -3'

Sequencing Primer
(F):5'- CTGCAGTCATAGGAACTGTAGCCTG -3'
(R):5'- GAATTCAGCGTCTTGGCAATC -3'

Posted On

2015-02-19