Mutagenetix > Incidental Mutation

Incidental Mutation 'R1053:Vwce'

94152

Institutional Source

Beutler Lab

Gene Symbol

Vwce

Ensembl Gene

ENSMUSG00000043789

Gene Name

von Willebrand factor C and EGF domains

Synonyms

1300015B04Rik

MMRRC Submission

039143-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1053 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10611582-10643577 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10641463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 730 (F730L)

Ref Sequence

ENSEMBL: ENSMUSP00000056958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025647] [ENSMUST00000055115]

AlphaFold

Q3U515

Predicted Effect

probably benign
Transcript: ENSMUST00000025647

SMART Domains

Protein: ENSMUSP00000025647
Gene: ENSMUSG00000024738

Domain	Start	End	E-Value	Type
Pfam:A1_Propeptide	16	44	1.1e-13	PFAM
Pfam:Asp	73	386	1.1e-112	PFAM
Pfam:TAXi_N	74	229	7.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000055115
AA Change: F730L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: F730L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
EGF	70	98	2.2e1	SMART
EGF_CA	142	180	6.91e-9	SMART
EGF_CA	181	219	7.75e-12	SMART
EGF_CA	220	262	1.11e-12	SMART
low complexity region	294	312	N/A	INTRINSIC
low complexity region	335	353	N/A	INTRINSIC
VWC	378	432	2.91e-6	SMART
VWC	435	488	4.58e-4	SMART
VWC	493	551	2.06e-6	SMART
VWC	560	617	9.74e-8	SMART
VWC	621	676	1.35e-10	SMART
VWC	679	725	2.58e-1	SMART
low complexity region	761	772	N/A	INTRINSIC
low complexity region	889	903	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 41,207,768 (GRCm39)	N345Y	probably benign	Het
Ampd3	G	A	7: 110,387,887 (GRCm39)	G107S	probably damaging	Het
Bcas3	T	A	11: 85,448,236 (GRCm39)	I632N	probably benign	Het
Cald1	G	T	6: 34,732,577 (GRCm39)	R83L	probably damaging	Het
Cds2	T	A	2: 132,147,180 (GRCm39)	L420Q	probably damaging	Het
Col6a1	A	T	10: 76,556,800 (GRCm39)	Y266N	probably damaging	Het
Ctps1	A	G	4: 120,400,919 (GRCm39)		probably null	Het
Enam	A	G	5: 88,651,878 (GRCm39)	N1129S	possibly damaging	Het
Erc1	T	C	6: 119,773,887 (GRCm39)	E356G	probably damaging	Het
Fbxl4	T	A	4: 22,427,166 (GRCm39)	V469E	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm11568	A	G	11: 99,748,887 (GRCm39)	T31A	unknown	Het
Grm2	T	G	9: 106,525,356 (GRCm39)	Y453S	probably damaging	Het
Htt	A	G	5: 35,008,561 (GRCm39)		probably null	Het
Jakmip1	A	G	5: 37,291,593 (GRCm39)	I681V	possibly damaging	Het
Lair1	A	G	7: 4,031,784 (GRCm39)	S108P	probably damaging	Het
Lrp12	A	C	15: 39,741,377 (GRCm39)	F446C	probably damaging	Het
Ncoa6	C	T	2: 155,275,960 (GRCm39)	R95Q	probably damaging	Het
Nup210	T	C	6: 91,005,793 (GRCm39)	T614A	probably benign	Het
Or1b1	T	C	2: 36,995,476 (GRCm39)	Y62C	probably damaging	Het
Or52p2	A	T	7: 102,237,166 (GRCm39)	Y261*	probably null	Het
Or8b12	T	C	9: 37,658,131 (GRCm39)	S234P	probably damaging	Het
Ppp1r12a	T	C	10: 108,098,212 (GRCm39)	S311P	probably damaging	Het
Rsph3a	C	A	17: 8,164,736 (GRCm39)	P32Q	probably benign	Het
Sorl1	T	C	9: 41,902,752 (GRCm39)	T1602A	probably benign	Het
Svil	C	G	18: 5,056,690 (GRCm39)	P521R	probably benign	Het
Vps13b	A	G	15: 35,652,509 (GRCm39)	Y1580C	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zc2hc1c	A	G	12: 85,343,330 (GRCm39)	D489G	probably damaging	Het

Other mutations in Vwce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Vwce	APN	19	10,641,875 (GRCm39)	splice site	probably null
IGL01358:Vwce	APN	19	10,641,773 (GRCm39)	missense	possibly damaging	0.86
IGL02330:Vwce	APN	19	10,624,165 (GRCm39)	missense	possibly damaging	0.96
IGL02477:Vwce	APN	19	10,641,982 (GRCm39)	splice site	probably null
IGL02551:Vwce	APN	19	10,622,400 (GRCm39)	missense	possibly damaging	0.71
IGL02606:Vwce	APN	19	10,632,712 (GRCm39)	splice site	probably benign
IGL02633:Vwce	APN	19	10,625,858 (GRCm39)	missense	probably damaging	0.98
IGL02656:Vwce	APN	19	10,641,716 (GRCm39)	missense	probably benign
IGL02884:Vwce	APN	19	10,623,943 (GRCm39)	missense	possibly damaging	0.53
IGL02973:Vwce	APN	19	10,632,764 (GRCm39)	nonsense	probably null
IGL03038:Vwce	APN	19	10,624,035 (GRCm39)	missense	possibly damaging	0.86
IGL03329:Vwce	APN	19	10,637,360 (GRCm39)	missense	possibly damaging	0.73
PIT4403001:Vwce	UTSW	19	10,615,461 (GRCm39)	missense	possibly damaging	0.53
PIT4431001:Vwce	UTSW	19	10,641,946 (GRCm39)	missense	possibly damaging	0.53
PIT4519001:Vwce	UTSW	19	10,641,946 (GRCm39)	missense	possibly damaging	0.53
R0042:Vwce	UTSW	19	10,624,177 (GRCm39)	missense	probably benign
R0081:Vwce	UTSW	19	10,641,453 (GRCm39)	critical splice acceptor site	probably null
R0142:Vwce	UTSW	19	10,641,976 (GRCm39)	missense	probably damaging	0.97
R0165:Vwce	UTSW	19	10,637,337 (GRCm39)	splice site	probably benign
R0948:Vwce	UTSW	19	10,630,441 (GRCm39)	missense	probably damaging	1.00
R1505:Vwce	UTSW	19	10,641,608 (GRCm39)	missense	probably benign
R1623:Vwce	UTSW	19	10,624,108 (GRCm39)	nonsense	probably null
R1672:Vwce	UTSW	19	10,630,459 (GRCm39)	missense	possibly damaging	0.92
R1882:Vwce	UTSW	19	10,615,520 (GRCm39)	missense	possibly damaging	0.53
R3849:Vwce	UTSW	19	10,624,269 (GRCm39)	missense	probably damaging	0.97
R4292:Vwce	UTSW	19	10,636,996 (GRCm39)	missense	probably benign	0.00
R4293:Vwce	UTSW	19	10,636,996 (GRCm39)	missense	probably benign	0.00
R4531:Vwce	UTSW	19	10,641,710 (GRCm39)	missense	probably benign	0.01
R4678:Vwce	UTSW	19	10,642,012 (GRCm39)	missense	possibly damaging	0.86
R4720:Vwce	UTSW	19	10,625,831 (GRCm39)	missense	possibly damaging	0.85
R4737:Vwce	UTSW	19	10,627,943 (GRCm39)	missense	probably benign	0.33
R4864:Vwce	UTSW	19	10,628,000 (GRCm39)	missense	probably benign	0.01
R4916:Vwce	UTSW	19	10,624,243 (GRCm39)	missense	probably damaging	0.98
R4939:Vwce	UTSW	19	10,622,414 (GRCm39)	missense	probably damaging	0.98
R5605:Vwce	UTSW	19	10,635,402 (GRCm39)	missense	possibly damaging	0.95
R5735:Vwce	UTSW	19	10,624,431 (GRCm39)	missense	probably benign	0.08
R5780:Vwce	UTSW	19	10,627,983 (GRCm39)	missense	probably damaging	1.00
R6158:Vwce	UTSW	19	10,621,585 (GRCm39)	missense	possibly damaging	0.91
R6383:Vwce	UTSW	19	10,636,956 (GRCm39)	nonsense	probably null
R6920:Vwce	UTSW	19	10,642,057 (GRCm39)	missense	probably benign
R7201:Vwce	UTSW	19	10,615,479 (GRCm39)	missense	possibly damaging	0.72
R7276:Vwce	UTSW	19	10,641,538 (GRCm39)	missense	possibly damaging	0.53
R7423:Vwce	UTSW	19	10,641,704 (GRCm39)	missense	probably benign	0.02
R7474:Vwce	UTSW	19	10,624,305 (GRCm39)	missense	possibly damaging	0.93
R7843:Vwce	UTSW	19	10,641,647 (GRCm39)	missense	probably benign	0.01
R8254:Vwce	UTSW	19	10,627,938 (GRCm39)	missense	probably damaging	0.98
R8782:Vwce	UTSW	19	10,615,491 (GRCm39)	missense	probably benign	0.33
R9154:Vwce	UTSW	19	10,625,850 (GRCm39)	missense	possibly damaging	0.91
R9369:Vwce	UTSW	19	10,624,061 (GRCm39)	missense	probably benign	0.04
R9458:Vwce	UTSW	19	10,631,688 (GRCm39)	missense	possibly damaging	0.95
R9664:Vwce	UTSW	19	10,615,481 (GRCm39)	missense	probably benign	0.33
RF020:Vwce	UTSW	19	10,630,449 (GRCm39)	missense	probably damaging	1.00
X0018:Vwce	UTSW	19	10,634,026 (GRCm39)	missense	possibly damaging	0.86
Z1177:Vwce	UTSW	19	10,624,227 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- GCCATGTGCTTCCCAAAAGTCACAG -3'
(R):5'- AGAGATATGCCCTCTGGCTCCAAC -3'

Sequencing Primer
(F):5'- AGTCACAGCGCAAGGTC -3'
(R):5'- TGCAGACTGTATGTTAGACAGG -3'

Posted On

2014-01-05