Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01993:Vwde'

182085

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 #

IGL01993

Quality Score

Status

Chromosome

Chromosomal Location

13156439-13224964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13219977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 58 (I58T)

Ref Sequence

ENSEMBL: ENSMUSP00000058110 (fasta)

Gene Model

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

AlphaFold

Q6DFV8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054530
AA Change: I58T

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: I58T

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

possibly damaging
Transcript: ENSMUST00000203074
AA Change: I58T

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: I58T

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,208,452 (GRCm39)		probably benign	Het
Acnat2	A	T	4: 49,380,131 (GRCm39)	S398T	probably benign	Het
Adgrb2	G	T	4: 129,912,635 (GRCm39)	E1296D	possibly damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Anapc2	C	A	2: 25,164,725 (GRCm39)	D322E	probably benign	Het
Apobec1	A	G	6: 122,565,138 (GRCm39)		probably benign	Het
Asic1	T	C	15: 99,595,353 (GRCm39)	V393A	probably benign	Het
Cfap65	A	C	1: 74,959,702 (GRCm39)	F816C	probably damaging	Het
Cfap69	A	C	5: 5,631,284 (GRCm39)	L914R	probably damaging	Het
Cgas	A	G	9: 78,349,802 (GRCm39)	S187P	probably benign	Het
Cspg4	C	T	9: 56,805,762 (GRCm39)	T2191I	probably benign	Het
Cyp11a1	T	A	9: 57,928,106 (GRCm39)	I210N	probably damaging	Het
Dgkb	T	A	12: 38,032,009 (GRCm39)	Y24N	probably benign	Het
Epc1	T	C	18: 6,449,136 (GRCm39)	T504A	possibly damaging	Het
Fam135a	A	T	1: 24,094,992 (GRCm39)	D125E	probably damaging	Het
Fgd3	T	C	13: 49,433,664 (GRCm39)	H345R	possibly damaging	Het
Gm12253	T	C	11: 58,325,379 (GRCm39)	V17A	probably damaging	Het
Hars1	C	T	18: 36,903,265 (GRCm39)	G355D	probably damaging	Het
Hpgd	A	T	8: 56,772,097 (GRCm39)	I190F	probably benign	Het
Ighv1-34	A	T	12: 114,815,003 (GRCm39)	M53K	probably benign	Het
Ildr2	A	T	1: 166,096,939 (GRCm39)	T53S	possibly damaging	Het
Ints5	T	A	19: 8,872,829 (GRCm39)	C263S	probably benign	Het
Lars2	T	C	9: 123,224,008 (GRCm39)		probably benign	Het
Ldha	G	A	7: 46,504,524 (GRCm39)	A349T	possibly damaging	Het
Map3k2	T	A	18: 32,359,684 (GRCm39)	C512*	probably null	Het
Parp4	G	A	14: 56,848,245 (GRCm39)	R687Q	possibly damaging	Het
Plk2	T	C	13: 110,535,731 (GRCm39)	S518P	probably damaging	Het
Prrc2b	T	G	2: 32,114,057 (GRCm39)	V2036G	possibly damaging	Het
Psg16	T	A	7: 16,827,631 (GRCm39)	S196T	probably benign	Het
Psme3ip1	G	T	8: 95,302,380 (GRCm39)	A217D	possibly damaging	Het
Ranbp17	T	C	11: 33,450,770 (GRCm39)	T56A	possibly damaging	Het
Retsat	T	C	6: 72,581,978 (GRCm39)		probably benign	Het
Robo3	G	T	9: 37,335,949 (GRCm39)	L484I	probably damaging	Het
Septin4	G	T	11: 87,458,555 (GRCm39)	G310W	possibly damaging	Het
Slc17a6	T	C	7: 51,317,705 (GRCm39)	M446T	possibly damaging	Het
Slc38a1	G	A	15: 96,521,927 (GRCm39)	T11M	probably damaging	Het
Tmem138	T	C	19: 10,548,952 (GRCm39)	N106S	probably benign	Het
Traf1	G	A	2: 34,836,879 (GRCm39)		probably benign	Het
Tspan8	T	C	10: 115,675,913 (GRCm39)		probably benign	Het
Ubr5	T	C	15: 37,973,256 (GRCm39)	E2615G	probably damaging	Het
Zc3h12c	A	G	9: 52,027,611 (GRCm39)	S603P	probably damaging	Het
Zfp746	A	T	6: 48,059,092 (GRCm39)	S172R	probably damaging	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
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

2014-05-07