Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02633:Vwce'

301380

Institutional Source

Australian Phenomics Network (link to record)

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: 0.070) question?

Stock #

IGL02633

Quality Score

Status

Chromosome

Chromosomal Location

10611582-10643577 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10625858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 457 (V457M)

Ref Sequence

ENSEMBL: ENSMUSP00000056958 (fasta)

Gene Model

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

AlphaFold

Q3U515

Predicted Effect

probably damaging
Transcript: ENSMUST00000055115
AA Change: V457M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: V457M

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abitram	T	C	4: 56,806,131 (GRCm39)	V181A	possibly damaging	Het
Aff4	T	C	11: 53,300,198 (GRCm39)		probably benign	Het
Ap1g2	T	C	14: 55,338,104 (GRCm39)		probably null	Het
Aspn	A	T	13: 49,705,363 (GRCm39)	Y75F	possibly damaging	Het
Atm	G	A	9: 53,359,453 (GRCm39)	T2783I	probably damaging	Het
Cacnb1	A	T	11: 97,913,199 (GRCm39)	I18N	probably damaging	Het
Casr	T	C	16: 36,336,017 (GRCm39)	I97M	probably damaging	Het
Cnga2	T	A	X: 71,048,655 (GRCm39)		probably benign	Het
Coasy	T	A	11: 100,976,147 (GRCm39)	L425Q	probably damaging	Het
Cps1	A	G	1: 67,162,396 (GRCm39)	T25A	probably benign	Het
Dnah1	T	C	14: 31,006,772 (GRCm39)	Y2181C	probably benign	Het
Efna3	A	C	3: 89,222,749 (GRCm39)	S230A	probably damaging	Het
Eng	A	G	2: 32,563,286 (GRCm39)	I281V	probably damaging	Het
Erlec1	T	A	11: 30,898,430 (GRCm39)	R14*	probably null	Het
Gbp9	C	T	5: 105,231,431 (GRCm39)		probably benign	Het
Gzmg	T	C	14: 56,394,160 (GRCm39)	M245V	probably damaging	Het
Kdm5a	A	G	6: 120,341,680 (GRCm39)	I36V	probably damaging	Het
Krt87	A	G	15: 101,389,095 (GRCm39)	V79A	probably damaging	Het
Limd1	A	T	9: 123,308,987 (GRCm39)		probably benign	Het
Lmo4	T	C	3: 143,899,683 (GRCm39)	S155G	probably benign	Het
Mrpl44	G	A	1: 79,753,862 (GRCm39)	V5I	probably benign	Het
Mrpl49	T	C	19: 6,104,931 (GRCm39)	T146A	possibly damaging	Het
Mrpl58	T	C	11: 115,301,457 (GRCm39)		probably benign	Het
Nab1	C	T	1: 52,529,292 (GRCm39)	V202M	probably damaging	Het
Nav3	T	A	10: 109,527,997 (GRCm39)	M2229L	probably benign	Het
Notch2	C	T	3: 98,024,013 (GRCm39)		probably benign	Het
Nub1	A	G	5: 24,897,931 (GRCm39)	I106V	probably benign	Het
Prom1	A	T	5: 44,172,117 (GRCm39)	S595T	probably benign	Het
Rbfox1	T	A	16: 7,110,078 (GRCm39)	S165R	probably damaging	Het
Sipa1l2	G	A	8: 126,174,507 (GRCm39)	T1257I	probably damaging	Het
Smarcc2	T	C	10: 128,305,556 (GRCm39)	S327P	probably damaging	Het
Tdpoz1	T	C	3: 93,578,056 (GRCm39)	M243V	probably benign	Het
Ttn	G	T	2: 76,549,289 (GRCm39)	T23469K	probably damaging	Het
Ube2u	T	C	4: 100,339,971 (GRCm39)		probably benign	Het
Umodl1	T	C	17: 31,208,462 (GRCm39)	Y836H	probably damaging	Het
Vmn2r45	A	G	7: 8,488,728 (GRCm39)	Y101H	probably benign	Het
Vps13a	T	A	19: 16,697,772 (GRCm39)	Q781L	possibly 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
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
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

Posted On

2015-04-16