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

044614-MU

Accession Numbers

Essential gene?

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

Stock #

R6482 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13156439-13224964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13205843 bp (GRCm39)

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: 69,902,388 (GRCm39)	I415V	probably benign	Het
Akap8l	A	G	17: 32,564,370 (GRCm39)	F6L	possibly damaging	Het
Ano3	T	A	2: 110,527,400 (GRCm39)	N603Y	probably damaging	Het
Casp8ap2	T	C	4: 32,634,813 (GRCm39)	S116P	probably damaging	Het
Ccdc110	A	T	8: 46,395,825 (GRCm39)	Q572L	probably benign	Het
Chit1	T	C	1: 134,070,980 (GRCm39)	S20P	probably damaging	Het
Col22a1	G	A	15: 71,762,338 (GRCm39)	P107L	possibly damaging	Het
Dpys	T	C	15: 39,705,369 (GRCm39)	H248R	probably damaging	Het
Dsg2	A	T	18: 20,734,371 (GRCm39)	K783I	possibly damaging	Het
Efnb2	A	T	8: 8,670,637 (GRCm39)	V321E	probably damaging	Het
Eif1ad13	A	G	12: 87,762,565 (GRCm39)	Y95C	probably damaging	Het
Fbxo11	A	T	17: 88,320,086 (GRCm39)	Y209N	probably benign	Het
Gm35315	A	T	5: 110,225,955 (GRCm39)	C495S	possibly damaging	Het
Hrh1	A	G	6: 114,457,724 (GRCm39)	Q335R	possibly damaging	Het
Il12rb2	A	G	6: 67,333,670 (GRCm39)	L203P	probably damaging	Het
Itgav	T	C	2: 83,624,614 (GRCm39)	S735P	probably damaging	Het
Klrg1	G	T	6: 122,248,412 (GRCm39)	C162*	probably null	Het
Mcc	T	C	18: 44,578,931 (GRCm39)	S651G	possibly damaging	Het
Nkx2-2	T	A	2: 147,027,896 (GRCm39)	I15F	probably damaging	Het
Nppa	G	A	4: 148,085,328 (GRCm39)	V13I	probably benign	Het
Obi1	A	T	14: 104,717,253 (GRCm39)	C373*	probably null	Het
Or8i2	G	C	2: 86,852,869 (GRCm39)	F6L	probably benign	Het
Pde2a	A	G	7: 101,150,244 (GRCm39)	N228D	probably benign	Het
Pgpep1l	C	T	7: 67,888,815 (GRCm39)		probably null	Het
Plekhg3	A	G	12: 76,622,778 (GRCm39)	N673D	probably benign	Het
Plxna4	A	G	6: 32,493,672 (GRCm39)	S315P	probably benign	Het
Psg21	A	T	7: 18,388,664 (GRCm39)		probably null	Het
Rnf111	T	C	9: 70,336,889 (GRCm39)	T925A	probably damaging	Het
Spag9	T	C	11: 93,984,328 (GRCm39)	F734L	possibly damaging	Het
Tarbp1	A	G	8: 127,177,434 (GRCm39)	V746A	probably benign	Het
Tmtc1	A	G	6: 148,314,243 (GRCm39)	F119L	probably benign	Het
Ttc21b	A	G	2: 66,057,244 (GRCm39)	M576T	probably benign	Het
Usp48	T	A	4: 137,362,232 (GRCm39)	V765E	probably damaging	Het
Vmn1r20	A	G	6: 57,409,093 (GRCm39)	S140G	probably benign	Het
Wapl	A	G	14: 34,414,649 (GRCm39)	S504G	probably benign	Het
Wnt5b	A	T	6: 119,410,573 (GRCm39)	L289Q	possibly damaging	Het
Zfp142	G	A	1: 74,609,376 (GRCm39)		probably null	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,549,992 (GRCm39)		probably benign	Het
Zfp948	A	G	17: 21,807,813 (GRCm39)	H335R	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
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
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'- CAAAAGAGCTTTCAATGCTTGG -3'
(R):5'- TGAGGGTCTCTTTTCTCTAAGATTC -3'

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

Posted On

2018-05-21