Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01835:Vwde'

154915

Institutional Source

Australian Phenomics Network (link to record)

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: 0.194) question?

Stock #

IGL01835

Quality Score

Status

Chromosome

Chromosomal Location

13156439-13224964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 13186823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 888 (V888G)

Ref Sequence

ENSEMBL: ENSMUSP00000058110 (fasta)

Gene Model

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

AlphaFold

Q6DFV8

Predicted Effect

probably benign
Transcript: ENSMUST00000054530
AA Change: V888G

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: V888G

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: V888G

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: V888G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,213,957 (GRCm39)	M728K	probably benign	Het
2700049A03Rik	T	A	12: 71,213,955 (GRCm39)	Y727*	probably null	Het
Adam23	T	C	1: 63,582,278 (GRCm39)	Y309H	probably damaging	Het
Ash2l	C	T	8: 26,329,868 (GRCm39)	V97M	probably damaging	Het
Cyp4f13	A	G	17: 33,149,588 (GRCm39)	F83L	probably benign	Het
Dnah6	A	T	6: 73,112,784 (GRCm39)	S1607T	probably damaging	Het
Dock2	T	A	11: 34,260,435 (GRCm39)	M969L	possibly damaging	Het
Dse	T	A	10: 34,036,213 (GRCm39)		probably benign	Het
Dusp22	C	T	13: 30,892,666 (GRCm39)		probably null	Het
F5	G	A	1: 164,021,937 (GRCm39)	V1471I	probably benign	Het
Gm14403	A	T	2: 177,199,049 (GRCm39)	E48D	probably damaging	Het
Gm6309	G	A	5: 146,105,085 (GRCm39)	A276V	probably damaging	Het
Icam4	A	T	9: 20,941,086 (GRCm39)	T113S	probably damaging	Het
Ipo5	T	C	14: 121,163,650 (GRCm39)	V236A	probably benign	Het
Mrc2	T	G	11: 105,227,503 (GRCm39)	F579V	probably damaging	Het
Myl4	T	A	11: 104,468,279 (GRCm39)	M1K	probably null	Het
Oas3	A	T	5: 120,904,193 (GRCm39)	C560*	probably null	Het
Or2w25	T	C	11: 59,504,165 (GRCm39)	V125A	probably damaging	Het
Or52e18	T	C	7: 104,609,669 (GRCm39)	N90S	probably benign	Het
Prlr	G	A	15: 10,329,129 (GRCm39)	V535I	probably damaging	Het
Ptprd	T	C	4: 76,165,058 (GRCm39)	T48A	probably benign	Het
Rasa4	A	G	5: 136,131,461 (GRCm39)	H485R	possibly damaging	Het
Rnf13	A	T	3: 57,728,007 (GRCm39)	H229L	probably damaging	Het
Rpap3	T	C	15: 97,601,120 (GRCm39)	D39G	possibly damaging	Het
Sec23ip	T	A	7: 128,357,035 (GRCm39)		probably null	Het
Sirpa	T	A	2: 129,457,484 (GRCm39)	F186Y	possibly damaging	Het
Slc26a11	T	C	11: 119,268,040 (GRCm39)	Y473H	probably benign	Het
Slc36a2	T	C	11: 55,053,559 (GRCm39)	I360V	probably benign	Het
Spg11	G	A	2: 121,918,705 (GRCm39)	R975C	probably benign	Het
Sppl2b	T	A	10: 80,701,175 (GRCm39)	I350N	probably damaging	Het
Tas2r139	A	T	6: 42,118,366 (GRCm39)	N166I	probably benign	Het
Trav14n-3	A	G	14: 53,607,786 (GRCm39)	T39A	possibly damaging	Het
Vmn2r61	A	G	7: 41,950,015 (GRCm39)	M812V	probably benign	Het
Vmn2r87	A	C	10: 130,314,978 (GRCm39)	F203V	probably damaging	Het
Zbtb17	T	C	4: 141,192,749 (GRCm39)		probably null	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
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
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

Posted On

2014-02-04