Mutagenetix > Incidental Mutation

Incidental Mutation 'RF020:Vwce'

603850

Institutional Source

Beutler Lab

Gene Symbol

Vwce

Ensembl Gene

ENSMUSG00000043789

Gene Name

von Willebrand factor C and EGF domains

Synonyms

1300015B04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

RF020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10634233-10665210 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10653085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 503 (G503R)

Ref Sequence

ENSEMBL: ENSMUSP00000056958 (fasta)

Gene Model

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

AlphaFold

Q3U515

Predicted Effect

probably damaging
Transcript: ENSMUST00000055115
AA Change: G503R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: G503R

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,533,657	K1270E	possibly damaging	Het
Adgrb2	T	C	4: 130,010,084	S668P	probably damaging	Het
Ahdc1	T	G	4: 133,064,277	L943R	possibly damaging	Het
Ank2	T	C	3: 126,945,476	K2253R	unknown	Het
Arhgap23	T	C	11: 97,463,561	S767P	probably damaging	Het
Arhgef12	A	G	9: 42,989,989	I839T	possibly damaging	Het
Begain	CGCCGC	CGCCGCGGCCGC	12: 109,033,424		probably benign	Het
Btbd19	A	T	4: 117,122,275	C116S	probably damaging	Het
Cbr1	C	T	16: 93,610,179	A261V	probably benign	Het
Ccdc137	A	G	11: 120,458,196	R18G	probably benign	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,554,979		probably benign	Het
Celsr3	C	T	9: 108,849,057	R3162C	probably benign	Het
Cep350	A	T	1: 155,915,478	V1300E	probably benign	Het
Cluh	G	GCCAGAT	11: 74,669,538		probably benign	Het
Cmya5	G	T	13: 93,069,291	Q3357K	possibly damaging	Het
Col6a2	T	G	10: 76,606,209		probably null	Het
Cyp2j9	T	A	4: 96,577,652	T315S	probably damaging	Het
Cyp3a13	CATTATT	CATT	5: 137,894,263		probably null	Het
Dnah6	T	A	6: 73,118,057	Y2181F	probably benign	Het
Dnah7b	A	G	1: 46,373,261	D4010G	possibly damaging	Het
E4f1	CCG	CCGACG	17: 24,455,195		probably benign	Het
Ep300	A	T	15: 81,586,571		probably benign	Het
Fam234a	A	G	17: 26,218,751	V90A	probably benign	Het
Fam71e1	GGA	GGAAGGGTGGATCCTGGATACCTGGGTCTGAGGGAAGA	7: 44,500,535		probably null	Het
Gab3	TCT	TCTGCT	X: 75,000,017		probably benign	Het
Gal3st1	A	G	11: 3,998,153	Y120C	possibly damaging	Het
Gm5475	GTGGAAGGAAAGGT	G	15: 100,427,149		probably null	Het
Gm6665	T	TC	18: 31,820,377		probably null	Het
Hdlbp	T	C	1: 93,440,734	T8A	probably benign	Het
Hnrnpa2b1	T	A	6: 51,466,694	K92N	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640		probably benign	Het
Klhl10	C	G	11: 100,442,070	Q14E	probably benign	Het
Klra2	GAAAGAAATCCA	GAAAGAAATCCAAAGAAATCCA	6: 131,221,838		probably null	Het
Kmt2b	CC	CCTCCTGC	7: 30,586,382		probably benign	Het
Krt2	A	G	15: 101,817,968	I45T	unknown	Het
Ksr2	T	C	5: 117,555,218	S244P	probably benign	Het
Lama5	A	T	2: 180,196,178	M915K	probably benign	Het
Lrp1b	A	C	2: 41,770,846	H197Q		Het
Lrrc1	T	C	9: 77,452,631	E293G	probably damaging	Het
Med12l	AACA	AACAACA	3: 59,275,958		probably benign	Het
Mgam	T	A	6: 40,685,309	Y1179N	probably damaging	Het
Mgat4c	A	G	10: 102,389,067	I381V	probably benign	Het
Mrgprx1	A	AGAC	7: 48,021,511		probably benign	Het
Myc	A	T	15: 61,985,823		probably benign	Het
Nipbl	A	G	15: 8,358,934	S401P	probably damaging	Het
Nlrp9c	A	T	7: 26,385,224	I310N	probably benign	Het
Nwd2	C	A	5: 63,805,723	Y883*	probably null	Het
Oas1e	T	A	5: 120,794,318	T87S	possibly damaging	Het
Olfr586	A	T	7: 103,121,891	C294S	probably benign	Het
Olfr653	A	G	7: 104,580,290	M215V	probably benign	Het
Olfr885	G	A	9: 38,061,324	M1I	probably null	Het
Olfr964-ps1	GA	GATACA	9: 39,686,753		probably null	Het
Pappa	T	G	4: 65,205,045	S872R	possibly damaging	Het
Parp4	T	C	14: 56,647,349	L1295P	unknown	Het
Pcdh15	A	T	10: 74,185,410	Y152F	probably damaging	Het
Pdk1	A	T	2: 71,883,896	I217L	possibly damaging	Het
Phldb1	A	C	9: 44,697,946	C450W	probably damaging	Het
Pnmal1	C	CCATGATGCACCTGCTTCAACATCA	7: 16,961,451		probably benign	Het
Prl2c5	G	A	13: 13,185,912	G55S	probably benign	Het
Psme2b	A	T	11: 48,945,570	H183Q	probably damaging	Het
Ptms	CCTCCTC	CCTCCTCCTC	6: 124,914,449		probably benign	Het
Rln3	T	C	8: 84,043,302	T73A	probably benign	Het
Rprd1a	T	A	18: 24,530,005	Q21L	probably damaging	Het
Sept3	A	T	15: 82,284,461	D155V	probably damaging	Het
Sh3rf3	T	A	10: 58,813,768	V65E	probably damaging	Het
Shank3	A	G	15: 89,500,390	N155S	probably benign	Het
Shox2	G	T	3: 66,973,813	P278Q	probably damaging	Het
Slc1a1	T	C	19: 28,879,155		probably null	Het
Slc39a10	A	T	1: 46,810,015	F814I	probably damaging	Het
Slc5a1	T	C	5: 33,133,429	I119T	probably damaging	Het
Slc6a13	T	C	6: 121,324,351		probably null	Het
Spta1	A	G	1: 174,213,444	D1270G	probably benign	Het
Spta1	T	A	1: 174,217,903	F1542L	probably damaging	Het
Tacc3	T	A	5: 33,661,224	M1K	probably null	Het
Tax1bp1	T	C	6: 52,721,354	V17A	probably damaging	Het
Thegl	CAGCGATCCTCCCCAGTCCCGCAAGGC	CAGCGATCCTCCCCAGTCCCGCAAGGCGAGCGATCCTCCCCAGTCCCGCAAGGC	5: 77,016,400		probably benign	Het
Tmem156	T	A	5: 65,091,547	E3D	probably benign	Het
Tmem209	T	A	6: 30,487,418	M530L	probably benign	Het
Trpc2	A	G	7: 102,096,226	D883G	unknown	Het
Tsen34	GGAGCCAAAAT	G	7: 3,695,796		probably null	Het
Uhrf2	T	C	19: 30,086,391	Y585H	probably damaging	Het
Vmn1r26	T	A	6: 58,008,720	K161N	probably benign	Het
Vmn1r29	A	G	6: 58,307,543	S83G	probably benign	Het
Vps13b	G	T	15: 35,925,406	W3829L	probably null	Het
Zc3h11a	T	C	1: 133,626,997	E415G	possibly damaging	Het
Zc3h14	T	A	12: 98,780,282		probably null	Het
Zfp119b	A	T	17: 55,939,499	M229K	probably benign	Het
Zfp384	CCAAGCTCAAGC	CCAAGC	6: 125,036,455		probably benign	Het
Zfp384	GGCCCAGGC	GGCCCAGGCCCACGCCCAGGC	6: 125,036,488		probably benign	Het
Zyx	T	A	6: 42,357,396	L518Q	probably damaging	Het

Other mutations in Vwce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Vwce	APN	19	10664511	splice site	probably null
IGL01358:Vwce	APN	19	10664409	missense	possibly damaging	0.86
IGL02330:Vwce	APN	19	10646801	missense	possibly damaging	0.96
IGL02477:Vwce	APN	19	10664618	splice site	probably null
IGL02551:Vwce	APN	19	10645036	missense	possibly damaging	0.71
IGL02606:Vwce	APN	19	10655348	splice site	probably benign
IGL02633:Vwce	APN	19	10648494	missense	probably damaging	0.98
IGL02656:Vwce	APN	19	10664352	missense	probably benign
IGL02884:Vwce	APN	19	10646579	missense	possibly damaging	0.53
IGL02973:Vwce	APN	19	10655400	nonsense	probably null
IGL03038:Vwce	APN	19	10646671	missense	possibly damaging	0.86
IGL03329:Vwce	APN	19	10659996	missense	possibly damaging	0.73
PIT4403001:Vwce	UTSW	19	10638097	missense	possibly damaging	0.53
PIT4431001:Vwce	UTSW	19	10664582	missense	possibly damaging	0.53
PIT4519001:Vwce	UTSW	19	10664582	missense	possibly damaging	0.53
R0042:Vwce	UTSW	19	10646813	missense	probably benign
R0081:Vwce	UTSW	19	10664089	critical splice acceptor site	probably null
R0142:Vwce	UTSW	19	10664612	missense	probably damaging	0.97
R0165:Vwce	UTSW	19	10659973	splice site	probably benign
R0948:Vwce	UTSW	19	10653077	missense	probably damaging	1.00
R1053:Vwce	UTSW	19	10664099	missense	probably benign	0.18
R1505:Vwce	UTSW	19	10664244	missense	probably benign
R1623:Vwce	UTSW	19	10646744	nonsense	probably null
R1672:Vwce	UTSW	19	10653095	missense	possibly damaging	0.92
R1882:Vwce	UTSW	19	10638156	missense	possibly damaging	0.53
R3849:Vwce	UTSW	19	10646905	missense	probably damaging	0.97
R4292:Vwce	UTSW	19	10659632	missense	probably benign	0.00
R4293:Vwce	UTSW	19	10659632	missense	probably benign	0.00
R4531:Vwce	UTSW	19	10664346	missense	probably benign	0.01
R4678:Vwce	UTSW	19	10664648	missense	possibly damaging	0.86
R4720:Vwce	UTSW	19	10648467	missense	possibly damaging	0.85
R4737:Vwce	UTSW	19	10650579	missense	probably benign	0.33
R4864:Vwce	UTSW	19	10650636	missense	probably benign	0.01
R4916:Vwce	UTSW	19	10646879	missense	probably damaging	0.98
R4939:Vwce	UTSW	19	10645050	missense	probably damaging	0.98
R5605:Vwce	UTSW	19	10658038	missense	possibly damaging	0.95
R5735:Vwce	UTSW	19	10647067	missense	probably benign	0.08
R5780:Vwce	UTSW	19	10650619	missense	probably damaging	1.00
R6158:Vwce	UTSW	19	10644221	missense	possibly damaging	0.91
R6383:Vwce	UTSW	19	10659592	nonsense	probably null
R6920:Vwce	UTSW	19	10664693	missense	probably benign
R7201:Vwce	UTSW	19	10638115	missense	possibly damaging	0.72
R7276:Vwce	UTSW	19	10664174	missense	possibly damaging	0.53
R7423:Vwce	UTSW	19	10664340	missense	probably benign	0.02
R7474:Vwce	UTSW	19	10646941	missense	possibly damaging	0.93
R7843:Vwce	UTSW	19	10664283	missense	probably benign	0.01
R8254:Vwce	UTSW	19	10650574	missense	probably damaging	0.98
R8782:Vwce	UTSW	19	10638127	missense	probably benign	0.33
R9154:Vwce	UTSW	19	10648486	missense	possibly damaging	0.91
R9369:Vwce	UTSW	19	10646697	missense	probably benign	0.04
R9458:Vwce	UTSW	19	10654324	missense	possibly damaging	0.95
R9664:Vwce	UTSW	19	10638117	missense	probably benign	0.33
X0018:Vwce	UTSW	19	10656662	missense	possibly damaging	0.86
Z1177:Vwce	UTSW	19	10646863	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- CTGCCTCTGGAGTAATGACCTC -3'
(R):5'- TGGTAAGGCATGGGAGATCC -3'

Sequencing Primer
(F):5'- CTCTGGAGTAATGACCTCTCTTGTAG -3'
(R):5'- GGAGATCCCTCTAGAGACTACTG -3'

Posted On

2019-12-04