Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Vwce'

24152

Institutional Source

Beutler Lab

Gene Symbol

Vwce

Ensembl Gene

ENSMUSG00000043789

Gene Name

von Willebrand factor C and EGF domains

Synonyms

1300015B04Rik

MMRRC Submission

038441-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10634233-10665210 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 10659973 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056958 (fasta)

Gene Model

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

AlphaFold

Q3U515

Predicted Effect

probably benign
Transcript: ENSMUST00000055115

SMART Domains

Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789

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: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,216,382	V1413M	probably damaging	Het
2700049A03Rik	T	C	12: 71,167,150	I717T	possibly damaging	Het
3632451O06Rik	A	G	14: 49,773,786	S155P	probably benign	Het
6430571L13Rik	A	G	9: 107,346,184		probably benign	Het
Abca15	T	A	7: 120,350,903		probably benign	Het
Abca6	A	G	11: 110,219,604	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,852,863		probably benign	Het
Agap3	A	G	5: 24,479,745	T544A	probably damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Akr1c20	T	C	13: 4,523,296	T7A	probably benign	Het
Ankrd26	A	G	6: 118,540,484	S459P	probably benign	Het
Ascc3	T	A	10: 50,842,127		probably null	Het
Brd1	T	C	15: 88,729,777	N305S	probably damaging	Het
Catip	T	A	1: 74,368,469	L320Q	possibly damaging	Het
Cttnbp2	G	A	6: 18,435,410	Q150*	probably null	Het
Cyp2d22	T	G	15: 82,373,280	N228T	probably benign	Het
Dapk1	T	C	13: 60,761,593	V1340A	probably benign	Het
Dcaf4	G	A	12: 83,535,988		probably benign	Het
Ddhd1	G	A	14: 45,595,592	T849M	probably damaging	Het
Dnah6	A	G	6: 73,021,323	S3987P	probably benign	Het
Dst	C	A	1: 34,154,646		probably benign	Het
Epha2	T	C	4: 141,321,892		probably null	Het
Ern2	T	C	7: 122,179,779	T281A	probably benign	Het
Extl1	A	G	4: 134,357,703	F652S	probably damaging	Het
Gckr	A	G	5: 31,326,948	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,451,499		probably null	Het
Gm7535	T	C	17: 17,911,175		probably benign	Het
Gmps	T	A	3: 63,993,954	I398N	probably damaging	Het
Igf2r	A	G	17: 12,698,527	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967	N283K	probably benign	Het
Ist1	A	G	8: 109,675,366		probably benign	Het
Lama3	A	T	18: 12,524,810	I1934F	probably damaging	Het
Lars	A	T	18: 42,202,697	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,246,519	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,462,315	T537K	probably damaging	Het
Ltn1	G	A	16: 87,405,519		probably benign	Het
Meiob	A	G	17: 24,835,161	T401A	probably benign	Het
Mettl21e	G	A	1: 44,211,123	T41M	probably damaging	Het
Miga1	C	T	3: 152,290,843	E323K	probably damaging	Het
Ndufs1	A	T	1: 63,159,748		probably null	Het
Olfr486	T	C	7: 108,172,675	D23G	probably benign	Het
Otog	G	A	7: 46,304,231	V2638M	probably damaging	Het
Parp6	T	C	9: 59,632,925	Y274H	probably damaging	Het
Prom2	A	T	2: 127,539,514		probably benign	Het
Prune2	T	A	19: 17,122,610	M1826K	probably benign	Het
Qk	T	A	17: 10,238,963	D159V	probably damaging	Het
Rab12	A	T	17: 66,500,317	I139N	probably damaging	Het
Rab25	T	A	3: 88,548,055	E7D	probably benign	Het
Rala	A	T	13: 17,888,589	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,388,487		probably benign	Het
Rbl2	T	A	8: 91,074,176	Y89N	probably damaging	Het
Rho	A	T	6: 115,932,227	I75F	probably damaging	Het
Slc38a4	C	A	15: 97,008,949	A303S	probably benign	Het
Slc6a15	A	G	10: 103,409,809	D551G	probably null	Het
Smyd3	T	C	1: 179,043,872	N314S	probably benign	Het
Speer4f1	T	A	5: 17,479,514	L180*	probably null	Het
Stat6	T	C	10: 127,657,227	V576A	probably damaging	Het
Strn	T	C	17: 78,677,374	D127G	possibly damaging	Het
Syne1	T	C	10: 5,033,096	R8610G	probably benign	Het
Tbc1d7	A	C	13: 43,153,202		probably null	Het
Tcf3	C	T	10: 80,412,997	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,226,087	A859D	probably benign	Het
Tmem106c	T	A	15: 97,968,139		probably benign	Het
Tmprss11c	A	T	5: 86,231,927		probably benign	Het
Tnfsf18	A	G	1: 161,494,731	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,858,670		probably null	Het
Trpm7	A	T	2: 126,797,513	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,478,938	R133L	possibly damaging	Het
Ttn	A	G	2: 76,721,342	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,776,153	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Wdhd1	A	G	14: 47,267,068	S350P	probably benign	Het
Zbtb21	A	G	16: 97,951,404	S560P	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
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
RF020:Vwce	UTSW	19	10653085	missense	probably damaging	1.00
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'- CACATGGGACTCTGAGCTAATCTGC -3'
(R):5'- TAATGGGGAGCCTTCCTGGGTAAC -3'

Sequencing Primer
(F):5'- ATGAACTCTCAAAGTACCCTTGTC -3'
(R):5'- TGTGGTCCACATCAAGACTTCAG -3'

Posted On

2013-04-16