Mutagenetix > Incidental Mutation

Incidental Mutation 'R0244:Vwde'

37962

Institutional Source

Beutler Lab

Gene Symbol

Vwde

Ensembl Gene

ENSMUSG00000079679

Gene Name

von Willebrand factor D and EGF domains

Synonyms

LOC232585

MMRRC Submission

038482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R0244 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

13156439-13224964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13193125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 405 (V405I)

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: V405I

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: V405I

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: V405I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: V405I

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

0.0601

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (88/89)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,806,172 (GRCm39)	C434*	probably null	Het
Adprhl1	A	G	8: 13,292,391 (GRCm39)		probably benign	Het
Ago1	T	A	4: 126,357,499 (GRCm39)	I59F	possibly damaging	Het
Arel1	T	C	12: 84,967,467 (GRCm39)	T786A	probably damaging	Het
Arhgap26	A	G	18: 39,496,184 (GRCm39)	K117R	probably benign	Het
Atp6v0b	C	T	4: 117,741,819 (GRCm39)	G204D	probably damaging	Het
Bace2	T	A	16: 97,237,973 (GRCm39)		probably null	Het
Bltp2	T	A	11: 78,177,317 (GRCm39)		probably null	Het
Camk4	G	A	18: 33,312,678 (GRCm39)		probably null	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cep152	T	C	2: 125,406,134 (GRCm39)	E1466G	probably benign	Het
Ces3b	T	C	8: 105,819,267 (GRCm39)	F441S	probably damaging	Het
Cfap52	T	C	11: 67,817,208 (GRCm39)	T562A	possibly damaging	Het
Clca3a2	C	A	3: 144,519,659 (GRCm39)	M238I	possibly damaging	Het
Cntnap5c	A	T	17: 58,409,163 (GRCm39)	D467V	probably damaging	Het
Col7a1	T	A	9: 108,801,252 (GRCm39)		probably null	Het
Cstf1	A	G	2: 172,219,630 (GRCm39)	N247S	possibly damaging	Het
Dffb	G	T	4: 154,059,072 (GRCm39)	N68K	probably benign	Het
Dnaaf10	T	C	11: 17,179,851 (GRCm39)	L284P	probably damaging	Het
Duox2	C	T	2: 122,122,341 (GRCm39)	G595S	probably benign	Het
Eftud2	T	A	11: 102,755,551 (GRCm39)	I228F	probably damaging	Het
Elmo3	T	C	8: 106,035,803 (GRCm39)	V578A	probably benign	Het
Elp2	A	G	18: 24,764,528 (GRCm39)	D625G	possibly damaging	Het
Ep300	C	T	15: 81,524,329 (GRCm39)	P1386S	unknown	Het
Fam120b	A	G	17: 15,637,899 (GRCm39)	D610G	probably damaging	Het
Fastk	A	T	5: 24,647,176 (GRCm39)		probably benign	Het
Fbxl6	A	G	15: 76,421,391 (GRCm39)	S252P	probably damaging	Het
Fbxo43	T	C	15: 36,161,939 (GRCm39)	K423E	probably damaging	Het
Filip1	T	A	9: 79,726,744 (GRCm39)	E625V	possibly damaging	Het
Fkbp9	T	A	6: 56,833,363 (GRCm39)	Y283*	probably null	Het
Gigyf2	T	A	1: 87,306,737 (GRCm39)	D142E	possibly damaging	Het
Gm10142	T	C	10: 77,551,848 (GRCm39)		probably null	Het
Golga5	T	C	12: 102,442,447 (GRCm39)	V262A	probably benign	Het
Hectd4	T	C	5: 121,467,668 (GRCm39)	V2539A	probably benign	Het
Ica1	G	T	6: 8,653,632 (GRCm39)	S335*	probably null	Het
Itga1	A	T	13: 115,143,433 (GRCm39)		probably benign	Het
Itgb1	T	C	8: 129,444,166 (GRCm39)		probably benign	Het
Itpr1	G	A	6: 108,450,550 (GRCm39)	V1960I	probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kprp	C	T	3: 92,732,718 (GRCm39)	V111I	probably benign	Het
Lamc3	T	C	2: 31,830,733 (GRCm39)	I1490T	probably damaging	Het
Lcp1	A	T	14: 75,464,441 (GRCm39)	D554V	possibly damaging	Het
Lgi3	A	G	14: 70,772,138 (GRCm39)	T228A	probably benign	Het
Lipa	A	T	19: 34,478,941 (GRCm39)	F260I	probably damaging	Het
Lrriq1	C	T	10: 103,051,634 (GRCm39)	E373K	probably damaging	Het
Map6	G	A	7: 98,986,043 (GRCm39)	G649D	probably benign	Het
Mccc1	A	G	3: 36,044,196 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,934,683 (GRCm39)	S1799T	probably benign	Het
Mmp23	T	A	4: 155,736,589 (GRCm39)	T151S	probably damaging	Het
Myo1d	T	A	11: 80,565,534 (GRCm39)	N401I	probably damaging	Het
Myo9b	T	A	8: 71,774,457 (GRCm39)	S323T	probably damaging	Het
Nbn	G	T	4: 15,979,353 (GRCm39)	W446L	probably benign	Het
Nedd1	A	T	10: 92,552,127 (GRCm39)		probably benign	Het
Ngef	C	A	1: 87,415,684 (GRCm39)		probably benign	Het
Nup153	A	T	13: 46,847,412 (GRCm39)	N672K	probably benign	Het
Or10d1b	T	A	9: 39,613,469 (GRCm39)	I199F	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or4e2	T	C	14: 52,687,969 (GRCm39)	V33A	probably benign	Het
Or4f57	T	C	2: 111,791,361 (GRCm39)	N19S	probably benign	Het
Pakap	T	G	4: 57,710,177 (GRCm39)	V374G	possibly damaging	Het
Pdlim3	C	A	8: 46,361,497 (GRCm39)		probably benign	Het
Pmfbp1	G	A	8: 110,268,305 (GRCm39)	E951K	probably damaging	Het
Pop1	T	A	15: 34,516,037 (GRCm39)	C548*	probably null	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ptpdc1	A	T	13: 48,739,456 (GRCm39)	N658K	probably benign	Het
Ptprk	A	C	10: 28,082,221 (GRCm39)	E63D	possibly damaging	Het
Rtf1	C	T	2: 119,563,358 (GRCm39)	R712W	probably damaging	Het
Samd7	A	C	3: 30,805,222 (GRCm39)	T2P	probably benign	Het
Sft2d1	A	G	17: 8,538,254 (GRCm39)	T52A	probably benign	Het
Slc25a26	A	G	6: 94,487,814 (GRCm39)	H91R	probably damaging	Het
Slc5a4a	A	G	10: 76,024,986 (GRCm39)	E621G	possibly damaging	Het
Slf1	A	T	13: 77,274,751 (GRCm39)	L28*	probably null	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Sorcs2	G	A	5: 36,554,897 (GRCm39)		probably benign	Het
Tacc2	T	C	7: 130,353,555 (GRCm39)		probably benign	Het
Tas2r140	A	G	6: 133,032,290 (GRCm39)	V156A	possibly damaging	Het
Terf2ip	C	A	8: 112,744,796 (GRCm39)	T371K	possibly damaging	Het
Tifa	C	T	3: 127,590,537 (GRCm39)	L103F	probably damaging	Het
Tmco3	A	G	8: 13,342,037 (GRCm39)	N104D	probably damaging	Het
Tmem259	T	A	10: 79,814,797 (GRCm39)	D240V	probably damaging	Het
Trim60	C	T	8: 65,453,700 (GRCm39)	R183H	probably benign	Het
Trps1	T	C	15: 50,528,139 (GRCm39)	N725D	probably damaging	Het
Ttn	C	T	2: 76,645,150 (GRCm39)	V12902M	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Unc79	A	G	12: 103,079,150 (GRCm39)	K1772E	probably damaging	Het
Wdr18	T	A	10: 79,802,242 (GRCm39)	D290E	probably damaging	Het
Wwc2	G	A	8: 48,353,756 (GRCm39)	A126V	probably benign	Het
Zfp882	A	T	8: 72,667,367 (GRCm39)	I105F	possibly damaging	Het
Zfp942	A	T	17: 22,147,553 (GRCm39)	C359S	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
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

Predicted Primers

PCR Primer
(F):5'- GGGATCAGGTCTCCTAGAGCAGAAGT -3'
(R):5'- AAATTTGGCATTGTCTTCCTGCCATGT -3'

Sequencing Primer
(F):5'- GTTAGCTGCCTCAGATGACAC -3'
(R):5'- ATGTGGATCTTCACCAGAACTC -3'

Posted On

2013-05-23