Mutagenetix > Incidental Mutation

Incidental Mutation 'R6383:Vwce'

515477

Institutional Source

Beutler Lab

Gene Symbol

Vwce

Ensembl Gene

ENSMUSG00000043789

Gene Name

von Willebrand factor C and EGF domains

Synonyms

1300015B04Rik

MMRRC Submission

044532-MU

Accession Numbers

Essential gene?

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

Stock #

R6383 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10611582-10643577 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 10636956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 679 (C679*)

Ref Sequence

ENSEMBL: ENSMUSP00000056958 (fasta)

Gene Model

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

AlphaFold

Q3U515

Predicted Effect

probably null
Transcript: ENSMUST00000055115
AA Change: C679*

SMART Domains

Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: C679*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,286,343 (GRCm39)	M2497K	probably benign	Het
Abtb2	C	T	2: 103,397,721 (GRCm39)	T217I	probably damaging	Het
Adam29	T	A	8: 56,324,543 (GRCm39)	N637I	probably damaging	Het
Adgb	T	A	10: 10,325,772 (GRCm39)	E59V	probably damaging	Het
Adh7	C	T	3: 137,933,778 (GRCm39)	R312C	probably benign	Het
Adprh	A	G	16: 38,267,814 (GRCm39)	I157T	probably damaging	Het
Ap2b1	T	C	11: 83,237,651 (GRCm39)	S572P	probably damaging	Het
Asic1	T	C	15: 99,596,761 (GRCm39)	L519P	probably damaging	Het
Atp2a2	G	C	5: 122,639,712 (GRCm39)	L13V	probably benign	Het
Bst2	A	T	8: 71,989,932 (GRCm39)	I47N	possibly damaging	Het
Cacng6	G	A	7: 3,473,509 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,957,289 (GRCm39)	E1849G	probably damaging	Het
Cep295	T	A	9: 15,244,050 (GRCm39)	T213S	probably damaging	Het
Chia1	A	G	3: 106,039,127 (GRCm39)	T406A	probably benign	Het
Chmp4c	G	T	3: 10,432,277 (GRCm39)	K62N	probably damaging	Het
Cldn15	A	G	5: 136,996,979 (GRCm39)	T7A	probably benign	Het
Cmpk2	T	A	12: 26,528,019 (GRCm39)	M412K	probably benign	Het
Cnnm1	T	C	19: 43,453,705 (GRCm39)		probably null	Het
Cubn	A	C	2: 13,432,646 (GRCm39)		probably null	Het
Dop1b	T	C	16: 93,579,136 (GRCm39)	V1668A	possibly damaging	Het
Erg28	T	A	12: 85,863,203 (GRCm39)	Y77F	probably damaging	Het
F830045P16Rik	C	T	2: 129,378,358 (GRCm39)	A9T	probably benign	Het
Gli3	A	G	13: 15,898,140 (GRCm39)	D740G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpat3	A	T	5: 101,041,010 (GRCm39)	M357L	probably benign	Het
Gpr179	A	G	11: 97,227,973 (GRCm39)	V1394A	possibly damaging	Het
Grn	T	A	11: 102,327,621 (GRCm39)		probably benign	Het
H2-Q6	G	A	17: 35,647,359 (GRCm39)		probably null	Het
Igsf3	A	G	3: 101,342,964 (GRCm39)	T514A	probably benign	Het
Il1r1	A	G	1: 40,352,495 (GRCm39)	D558G	possibly damaging	Het
Irx4	T	C	13: 73,415,832 (GRCm39)	M207T	possibly damaging	Het
Kap	T	C	6: 133,828,920 (GRCm39)	I54V	probably benign	Het
Kdm2b	G	A	5: 123,072,841 (GRCm39)	R340C	probably damaging	Het
Lipo3	T	A	19: 33,533,831 (GRCm39)	M334L	probably benign	Het
Lmbrd1	C	T	1: 24,745,115 (GRCm39)	L152F	probably damaging	Het
Ltbp1	G	A	17: 75,666,452 (GRCm39)	V1382I	probably damaging	Het
Map3k4	C	T	17: 12,468,470 (GRCm39)	D1008N	possibly damaging	Het
Mcf2l	T	C	8: 12,929,912 (GRCm39)		probably benign	Het
Mecom	T	G	3: 30,051,875 (GRCm39)	D180A	probably damaging	Het
Meis1	T	C	11: 18,891,741 (GRCm39)	D269G	probably benign	Het
Myh7	A	C	14: 55,226,351 (GRCm39)	S430A	probably benign	Het
Myo1h	A	G	5: 114,474,325 (GRCm39)	I439V	probably damaging	Het
Nat1	T	C	8: 67,944,134 (GRCm39)	V170A	possibly damaging	Het
Nlrp12	A	G	7: 3,282,673 (GRCm39)	L742P	probably damaging	Het
Nlrp4c	A	G	7: 6,069,052 (GRCm39)	T318A	probably benign	Het
Or4d10	T	A	19: 12,051,727 (GRCm39)	I90F	probably damaging	Het
Or4k47	T	A	2: 111,451,531 (GRCm39)	N296I	probably benign	Het
Or51ai2	A	G	7: 103,587,030 (GRCm39)	I148V	probably benign	Het
Or8g33	G	T	9: 39,337,530 (GRCm39)	T279N	probably damaging	Het
Or8g35	A	T	9: 39,381,926 (GRCm39)	L32Q	probably damaging	Het
Otop3	A	G	11: 115,235,898 (GRCm39)	E529G	probably damaging	Het
Parp6	T	C	9: 59,531,222 (GRCm39)	Y35H	probably damaging	Het
Pcdhb4	A	C	18: 37,441,074 (GRCm39)	D128A	probably damaging	Het
Phldb2	C	T	16: 45,569,113 (GRCm39)	D1249N	probably damaging	Het
Pramel30	A	T	4: 144,059,717 (GRCm39)	*476L	probably null	Het
Ptpn12	T	A	5: 21,192,466 (GRCm39)	K765*	probably null	Het
Ptprb	T	A	10: 116,182,912 (GRCm39)	Y1529*	probably null	Het
Ptprc	A	T	1: 138,006,189 (GRCm39)	Y798N	possibly damaging	Het
Sdk2	G	A	11: 113,723,091 (GRCm39)	T1300I	probably damaging	Het
Slc28a2b	T	C	2: 122,355,288 (GRCm39)	I555T	probably benign	Het
Sptbn2	G	A	19: 4,782,524 (GRCm39)	V487I	possibly damaging	Het
Sptbn5	A	G	2: 119,876,750 (GRCm39)		probably benign	Het
Srpk1	A	G	17: 28,809,036 (GRCm39)	S648P	probably damaging	Het
Stard9	T	C	2: 120,496,888 (GRCm39)		probably null	Het
Tmem135	A	T	7: 88,793,878 (GRCm39)	I388N	probably damaging	Het
Top3a	A	T	11: 60,640,285 (GRCm39)	I446N	probably benign	Het
Trpv1	T	C	11: 73,136,862 (GRCm39)	S482P	probably damaging	Het
Ugt3a1	C	T	15: 9,306,541 (GRCm39)	A230V	probably benign	Het
Vmn2r15	A	C	5: 109,441,092 (GRCm39)	Y255*	probably null	Het
Vmn2r60	A	G	7: 41,765,895 (GRCm39)	M1V	probably null	Het
Vmn2r87	A	G	10: 130,314,869 (GRCm39)	V239A	probably damaging	Het
Zfp385b	C	T	2: 77,246,185 (GRCm39)	A281T	probably benign	Het
Zfp398	T	G	6: 47,843,529 (GRCm39)	L395W	probably damaging	Het
Zfp442	C	T	2: 150,293,321 (GRCm39)		probably null	Het
Zfp606	A	G	7: 12,226,871 (GRCm39)	S331G	probably benign	Het
Zfp882	A	G	8: 72,668,484 (GRCm39)	H437R	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
R1053:Vwce	UTSW	19	10,641,463 (GRCm39)	missense	probably benign	0.18
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
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'- ACCGTACTAGCTGTCCTCAGTG -3'
(R):5'- GCCAGAGACAAGGGTACTTTG -3'

Sequencing Primer
(F):5'- CTATGTTCTACAGCTGGGCTCAG -3'
(R):5'- ACAAGGGTACTTTGAGAGTTCATG -3'

Posted On

2018-05-04