Mutagenetix > Incidental Mutation

Incidental Mutation 'R2014:Vwde'

222554

Institutional Source

Beutler Lab

Gene Symbol

Vwde

Ensembl Gene

ENSMUSG00000079679

Gene Name

von Willebrand factor D and EGF domains

Synonyms

LOC232585

MMRRC Submission

040023-MU

Accession Numbers

Essential gene?

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

Stock #

R2014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13156439-13224964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 13208337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 182 (G182C)

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: G182C

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: G182C

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: G182C

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: G182C

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

96% (105/109)

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	G	17: 48,347,723 (GRCm39)	T194P	possibly damaging	Het
Aadacl4fm5	A	T	4: 144,506,295 (GRCm39)	L132Q	probably damaging	Het
Acsbg2	T	A	17: 57,160,855 (GRCm39)	K263M	possibly damaging	Het
Adcy8	C	T	15: 64,639,727 (GRCm39)	G678S	probably benign	Het
Adgrl2	C	T	3: 148,532,111 (GRCm39)	G1041R	probably damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Aire	T	C	10: 77,878,792 (GRCm39)	D85G	probably damaging	Het
Alkbh8	C	T	9: 3,343,216 (GRCm39)	Q36*	probably null	Het
Amer3	T	C	1: 34,618,525 (GRCm39)		probably benign	Het
Angptl8	T	C	9: 21,748,358 (GRCm39)		probably null	Het
Ankmy1	T	C	1: 92,812,863 (GRCm39)	D482G	probably benign	Het
Apc	A	G	18: 34,448,644 (GRCm39)	I1813V	probably damaging	Het
Asb13	T	G	13: 3,699,512 (GRCm39)		probably null	Het
Blm	T	C	7: 80,152,147 (GRCm39)	E600G	probably damaging	Het
Cd163	G	T	6: 124,302,457 (GRCm39)	W1007L	probably damaging	Het
Cdr1	A	G	X: 60,228,420 (GRCm39)	F249L	probably benign	Het
Cp	A	G	3: 20,041,598 (GRCm39)	K44E	probably benign	Het
Crtap	C	A	9: 114,210,653 (GRCm39)		probably null	Het
Ctsk	A	G	3: 95,414,003 (GRCm39)	D250G	probably damaging	Het
Dcp2	T	C	18: 44,543,363 (GRCm39)	V307A	probably benign	Het
Dnah6	T	A	6: 73,150,402 (GRCm39)	D787V	probably damaging	Het
Dtx3l	G	A	16: 35,756,797 (GRCm39)	H129Y	probably benign	Het
Ece2	A	G	16: 20,461,067 (GRCm39)	T442A	probably benign	Het
Espl1	C	T	15: 102,231,149 (GRCm39)	R17*	probably null	Het
Espn	G	T	4: 152,217,416 (GRCm39)		probably null	Het
Fam20b	C	T	1: 156,533,511 (GRCm39)	R35Q	possibly damaging	Het
Fga	A	G	3: 82,940,064 (GRCm39)	I573V	probably damaging	Het
Fmo5	A	G	3: 97,542,998 (GRCm39)	K103E	possibly damaging	Het
Frem1	A	T	4: 82,924,089 (GRCm39)	V291D	probably damaging	Het
Gabbr1	A	G	17: 37,367,674 (GRCm39)		probably null	Het
Gjb6	T	C	14: 57,362,213 (GRCm39)	H16R	probably damaging	Het
Grina	T	C	15: 76,132,734 (GRCm39)	V167A	probably damaging	Het
Gulo	T	A	14: 66,246,496 (GRCm39)	M1L	probably benign	Het
Hcfc2	A	G	10: 82,574,814 (GRCm39)	N618D	probably benign	Het
Heatr5b	T	C	17: 79,121,613 (GRCm39)	D704G	probably damaging	Het
Hlcs	A	G	16: 94,063,599 (GRCm39)	V487A	probably benign	Het
Hps1	G	A	19: 42,750,951 (GRCm39)	P350S	probably benign	Het
Hspa9	A	T	18: 35,079,701 (GRCm39)	Y243N	probably damaging	Het
Igll1	A	G	16: 16,681,639 (GRCm39)	S39P	probably benign	Het
Kif21b	T	C	1: 136,076,020 (GRCm39)	F270L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt27	A	G	11: 99,240,318 (GRCm39)	V200A	probably benign	Het
Lama3	T	C	18: 12,657,778 (GRCm39)		probably benign	Het
Lmcd1	T	C	6: 112,305,702 (GRCm39)	W268R	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Mamdc4	T	A	2: 25,453,584 (GRCm39)	D1195V	probably damaging	Het
Map2	T	C	1: 66,455,295 (GRCm39)	V1395A	possibly damaging	Het
Map3k20	C	T	2: 72,268,604 (GRCm39)	T537M	probably benign	Het
Mdga1	A	G	17: 30,068,287 (GRCm39)	S276P	probably damaging	Het
Mep1a	T	C	17: 43,808,797 (GRCm39)	N85D	probably benign	Het
Mettl16	A	G	11: 74,708,195 (GRCm39)	S425G	probably benign	Het
Mthfd1l	A	G	10: 3,997,894 (GRCm39)	T622A	probably benign	Het
Nbeal2	G	A	9: 110,463,139 (GRCm39)	L1309F	probably benign	Het
Nde1	A	T	16: 13,987,321 (GRCm39)		probably benign	Het
Nhsl1	A	T	10: 18,387,340 (GRCm39)	R205W	probably damaging	Het
Nlrc5	A	G	8: 95,252,138 (GRCm39)		probably benign	Het
Notch3	C	A	17: 32,376,974 (GRCm39)	E310D	probably benign	Het
Or2f1	A	G	6: 42,721,784 (GRCm39)	E271G	probably damaging	Het
Or4p19	T	C	2: 88,242,388 (GRCm39)	T205A	probably benign	Het
Or5ak24	T	A	2: 85,260,696 (GRCm39)	H159L	possibly damaging	Het
Or7a39	T	C	10: 78,715,222 (GRCm39)	I72T	possibly damaging	Het
Osbpl5	C	A	7: 143,295,429 (GRCm39)	C11F	probably damaging	Het
P4hb	T	C	11: 120,453,522 (GRCm39)	E381G	probably damaging	Het
Pax4	A	G	6: 28,446,209 (GRCm39)	Y95H	probably benign	Het
Pdia3	T	C	2: 121,265,301 (GRCm39)	V390A	probably damaging	Het
Pigv	A	C	4: 133,390,034 (GRCm39)	D49E	possibly damaging	Het
Pik3c2a	T	A	7: 115,950,166 (GRCm39)		probably null	Het
Plxnb1	T	A	9: 108,935,687 (GRCm39)		probably benign	Het
Polq	A	G	16: 36,898,728 (GRCm39)	T2163A	probably damaging	Het
Pou5f2	T	C	13: 78,173,972 (GRCm39)	S305P	probably benign	Het
Ppm1h	A	T	10: 122,756,630 (GRCm39)	H425L	possibly damaging	Het
Ppp1r13b	G	T	12: 111,800,222 (GRCm39)	D518E	probably benign	Het
Prf1	A	T	10: 61,139,674 (GRCm39)	D544V	probably benign	Het
Prl3b1	T	C	13: 27,431,948 (GRCm39)	F158L	probably benign	Het
Prss41	C	T	17: 24,056,464 (GRCm39)		probably null	Het
Prune2	T	G	19: 17,097,887 (GRCm39)	N1130K	probably damaging	Het
Ptgdr2	T	C	19: 10,917,789 (GRCm39)	F102S	probably damaging	Het
Ptprq	T	G	10: 107,503,283 (GRCm39)	K792Q	probably damaging	Het
Pttg1ip2	T	A	5: 5,505,964 (GRCm39)	I106L	probably benign	Het
Rcbtb2	T	C	14: 73,411,826 (GRCm39)		probably benign	Het
Rgs14	C	A	13: 55,531,513 (GRCm39)	S479*	probably null	Het
Sash1	A	T	10: 8,605,177 (GRCm39)	V1071D	probably benign	Het
Sdsl	G	A	5: 120,601,218 (GRCm39)	T18M	probably damaging	Het
Sepsecs	T	A	5: 52,804,966 (GRCm39)	Q365L	probably benign	Het
Sh2d4a	A	T	8: 68,783,735 (GRCm39)	Q223L	probably damaging	Het
Slc14a2	T	C	18: 78,193,601 (GRCm39)		probably benign	Het
Slc5a9	A	C	4: 111,753,546 (GRCm39)	S52A	possibly damaging	Het
Slc6a18	C	A	13: 73,823,844 (GRCm39)	V99L	probably benign	Het
Smarca2	T	C	19: 26,661,305 (GRCm39)	S967P	possibly damaging	Het
Tbc1d22a	C	T	15: 86,183,885 (GRCm39)	T248M	probably damaging	Het
Tcte1	A	T	17: 45,852,237 (GRCm39)	N490I	probably benign	Het
Tet3	T	C	6: 83,363,057 (GRCm39)	E705G	probably damaging	Het
Tfeb	T	A	17: 48,102,484 (GRCm39)	H450Q	probably damaging	Het
Tmem248	G	A	5: 130,260,653 (GRCm39)	E73K	probably damaging	Het
Trip12	A	T	1: 84,738,587 (GRCm39)	L756*	probably null	Het
Try5	C	T	6: 41,291,585 (GRCm39)		probably null	Het
Tsc1	A	T	2: 28,555,649 (GRCm39)		probably benign	Het
Tspear	G	A	10: 77,710,954 (GRCm39)		probably benign	Het
Ttc6	T	C	12: 57,623,003 (GRCm39)	I134T	possibly damaging	Het
Ttn	T	A	2: 76,585,640 (GRCm39)		probably null	Het
Ube3b	A	G	5: 114,549,210 (GRCm39)	E738G	probably damaging	Het
Usp36	T	C	11: 118,153,334 (GRCm39)		probably benign	Het
Vmn2r71	T	A	7: 85,269,845 (GRCm39)	M452K	probably benign	Het
Vps13b	T	C	15: 35,607,288 (GRCm39)	S1074P	probably damaging	Het
Vps13d	A	G	4: 144,835,078 (GRCm39)	S2757P	probably damaging	Het
Wdr33	T	C	18: 31,966,652 (GRCm39)	V164A	probably damaging	Het
Zkscan16	A	G	4: 58,956,525 (GRCm39)	Y269C	possibly damaging	Het
Zup1	A	G	10: 33,805,820 (GRCm39)	V437A	possibly 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
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
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'- GCTTGGACAGTTCTAGAAGGACG -3'
(R):5'- GAACTAAGTCCTGAGCTCTCG -3'

Sequencing Primer
(F):5'- AACTGTGCTTCTACTAACCTCAGAG -3'
(R):5'- GTCCTGAGCTCTCGTTAAAATG -3'

Posted On

2014-08-25