Mutagenetix > Incidental Mutation

Incidental Mutation 'R6482:Vwde'

517159

Institutional Source

Beutler Lab

Gene Symbol

Vwde

Ensembl Gene

ENSMUSG00000079679

Gene Name

von Willebrand factor D and EGF domains

Synonyms

LOC232585

MMRRC Submission

Accession Numbers

Genbank: NM_001013757; MGI: 2685313

Is this an essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R6482 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13156299-13224965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13205844 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 235 (S235P)

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: S235P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: S235P

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 damaging
Transcript: ENSMUST00000203074
AA Change: S235P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: S235P

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

0.0900

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 70,011,562	I415V	probably benign	Het
Akap8l	A	G	17: 32,345,396	F6L	possibly damaging	Het
Ano3	T	A	2: 110,697,055	N603Y	probably damaging	Het
Casp8ap2	T	C	4: 32,634,813	S116P	probably damaging	Het
Ccdc110	A	T	8: 45,942,788	Q572L	probably benign	Het
Chit1	T	C	1: 134,143,242	S20P	probably damaging	Het
Col22a1	G	A	15: 71,890,489	P107L	possibly damaging	Het
Dpys	T	C	15: 39,841,973	H248R	probably damaging	Het
Dsg2	A	T	18: 20,601,314	K783I	possibly damaging	Het
Efnb2	A	T	8: 8,620,637	V321E	probably damaging	Het
Fbxo11	A	T	17: 88,012,658	Y209N	probably benign	Het
Gm21936	A	G	12: 87,795,795	Y95C	probably damaging	Het
Gm35315	A	T	5: 110,078,089	C495S	possibly damaging	Het
Hrh1	A	G	6: 114,480,763	Q335R	possibly damaging	Het
Il12rb2	A	G	6: 67,356,686	L203P	probably damaging	Het
Itgav	T	C	2: 83,794,270	S735P	probably damaging	Het
Klrg1	G	T	6: 122,271,453	C162*	probably null	Het
Mcc	T	C	18: 44,445,864	S651G	possibly damaging	Het
Nkx2-2	T	A	2: 147,185,976	I15F	probably damaging	Het
Nppa	G	A	4: 148,000,871	V13I	probably benign	Het
Olfr1104	G	C	2: 87,022,525	F6L	probably benign	Het
Pde2a	A	G	7: 101,501,037	N228D	probably benign	Het
Pgpep1l	C	T	7: 68,239,067		probably null	Het
Plekhg3	A	G	12: 76,576,004	N673D	probably benign	Het
Plxna4	A	G	6: 32,516,737	S315P	probably benign	Het
Psg21	A	T	7: 18,654,739		probably null	Het
Rnf111	T	C	9: 70,429,607	T925A	probably damaging	Het
Rnf219	A	T	14: 104,479,817	C373*	probably null	Het
Spag9	T	C	11: 94,093,502	F734L	possibly damaging	Het
Tarbp1	A	G	8: 126,450,695	V746A	probably benign	Het
Tmtc1	A	G	6: 148,412,745	F119L	probably benign	Het
Ttc21b	A	G	2: 66,226,900	M576T	probably benign	Het
Usp48	T	A	4: 137,634,921	V765E	probably damaging	Het
Vmn1r20	A	G	6: 57,432,108	S140G	probably benign	Het
Wapl	A	G	14: 34,692,692	S504G	probably benign	Het
Wnt5b	A	T	6: 119,433,612	L289Q	possibly damaging	Het
Zfp142	G	A	1: 74,570,217		probably null	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,719,648		probably benign	Het
Zfp948	A	G	17: 21,587,551	H335R	probably benign	Het

Other mutations in Vwde

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Vwde	APN	6	13187412	missense	probably benign	0.00
IGL01391:Vwde	APN	6	13190527	missense	probably benign	0.07
IGL01432:Vwde	APN	6	13193240	missense	probably benign	0.18
IGL01611:Vwde	APN	6	13219978	missense	probably damaging	1.00
IGL01835:Vwde	APN	6	13186824	missense	probably benign	0.43
IGL01993:Vwde	APN	6	13219978	missense	possibly damaging	0.89
IGL01997:Vwde	APN	6	13215706	missense	probably damaging	1.00
IGL02390:Vwde	APN	6	13190685	missense	probably damaging	1.00
IGL02612:Vwde	APN	6	13187149	missense	probably damaging	1.00
IGL02723:Vwde	APN	6	13205760	missense	probably damaging	0.99
IGL02731:Vwde	APN	6	13192614	missense	probably damaging	1.00
IGL02869:Vwde	APN	6	13187137	missense	probably damaging	1.00
IGL02981:Vwde	APN	6	13193113	missense	possibly damaging	0.84
IGL03031:Vwde	APN	6	13208382	missense	probably benign	0.10
IGL03180:Vwde	APN	6	13205765	missense	probably damaging	1.00
IGL03182:Vwde	APN	6	13187139	missense	probably damaging	1.00
willy_brandt	UTSW	6	13208405	splice site	probably null
C9142:Vwde	UTSW	6	13168054	splice site	probably benign
R0089:Vwde	UTSW	6	13220005	missense	probably damaging	1.00
R0244:Vwde	UTSW	6	13193126	missense	probably benign	0.16
R0355:Vwde	UTSW	6	13187807	splice site	probably benign
R0455:Vwde	UTSW	6	13187529	missense	probably benign	0.03
R0465:Vwde	UTSW	6	13215806	splice site	probably benign
R0946:Vwde	UTSW	6	13187875	missense	probably damaging	1.00
R1087:Vwde	UTSW	6	13186804	missense	probably damaging	1.00
R1236:Vwde	UTSW	6	13187153	nonsense	probably null
R1738:Vwde	UTSW	6	13190724	missense	probably damaging	1.00
R1891:Vwde	UTSW	6	13187455	missense	probably damaging	0.98
R2014:Vwde	UTSW	6	13208338	missense	possibly damaging	0.91
R2015:Vwde	UTSW	6	13208338	missense	possibly damaging	0.91
R2303:Vwde	UTSW	6	13215807	splice site	probably benign
R3439:Vwde	UTSW	6	13208375	missense	probably damaging	0.98
R3688:Vwde	UTSW	6	13186892	missense	probably damaging	0.96
R4457:Vwde	UTSW	6	13196101	missense	probably damaging	1.00
R4755:Vwde	UTSW	6	13205852	missense	possibly damaging	0.94
R4849:Vwde	UTSW	6	13196048	missense	possibly damaging	0.92
R4850:Vwde	UTSW	6	13196048	missense	possibly damaging	0.92
R4851:Vwde	UTSW	6	13196048	missense	possibly damaging	0.92
R4853:Vwde	UTSW	6	13215640	missense	probably damaging	1.00
R4951:Vwde	UTSW	6	13187139	missense	probably damaging	1.00
R5023:Vwde	UTSW	6	13192642	missense	possibly damaging	0.48
R5057:Vwde	UTSW	6	13192642	missense	possibly damaging	0.48
R5060:Vwde	UTSW	6	13208324	splice site	probably null
R5126:Vwde	UTSW	6	13187260	missense	probably benign	0.04
R5154:Vwde	UTSW	6	13215758	missense	probably benign	0.01
R5277:Vwde	UTSW	6	13186996	missense	probably benign	0.03
R5432:Vwde	UTSW	6	13190592	missense	probably damaging	1.00
R5436:Vwde	UTSW	6	13190628	missense	probably damaging	1.00
R5472:Vwde	UTSW	6	13193118	missense	probably benign	0.00
R5518:Vwde	UTSW	6	13186938	missense	probably benign	0.00
R5791:Vwde	UTSW	6	13195986	nonsense	probably null
R6045:Vwde	UTSW	6	13219936	missense	probably damaging	1.00
R6262:Vwde	UTSW	6	13205021	missense	probably damaging	1.00
R6500:Vwde	UTSW	6	13208405	splice site	probably null
R6562:Vwde	UTSW	6	13193123	missense	possibly damaging	0.84
R6905:Vwde	UTSW	6	13205927	missense	probably damaging	1.00
R7021:Vwde	UTSW	6	13186906	missense	probably damaging	1.00
R7103:Vwde	UTSW	6	13215800	missense	probably benign	0.03
R7356:Vwde	UTSW	6	13192642	missense	probably damaging	0.96
R7434:Vwde	UTSW	6	13187640	missense	probably benign	0.00
R7492:Vwde	UTSW	6	13204981	missense	probably null	1.00
R8026:Vwde	UTSW	6	13205783	missense	probably benign	0.16
R8544:Vwde	UTSW	6	13187653	missense	probably benign	0.00
R8557:Vwde	UTSW	6	13193137	missense	probably damaging	1.00
R8995:Vwde	UTSW	6	13195997	missense	probably damaging	1.00
R9112:Vwde	UTSW	6	13205052	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- CAAAAGAGCTTTCAATGCTTGG -3'
(R):5'- TGAGGGTCTCTTTTCTCTAAGATTC -3'

Sequencing Primer
(F):5'- GAGCTTTCAATGCTTGGTTTGAAATC -3'
(R):5'- AGATGCCTGATTTACCAACTGCG -3'

Posted On

2018-05-21