Mutagenetix > Incidental Mutations

Incidental Mutation 'R4878:Efemp2'

375096

Institutional Source

Beutler Lab

Gene Symbol

Efemp2

Ensembl Gene

ENSMUSG00000024909

Gene Name

epidermal growth factor-containing fibulin-like extracellular matrix protein 2

Synonyms

MBP1, fibulin-4, Fbln4, 0610011K11Rik, fibulin 4

MMRRC Submission

042487-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5473973-5481853 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 5480761 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025841] [ENSMUST00000070118] [ENSMUST00000124334] [ENSMUST00000126471] [ENSMUST00000165485] [ENSMUST00000166253] [ENSMUST00000166303] [ENSMUST00000167304] [ENSMUST00000167827] [ENSMUST00000167371] [ENSMUST00000167855] [ENSMUST00000169943] [ENSMUST00000168330]

Predicted Effect

probably benign
Transcript: ENSMUST00000025841

SMART Domains

Protein: ENSMUSP00000025841
Gene: ENSMUSG00000024906

Domain	Start	End	E-Value	Type
SCOP:d1jmsa1	9	73	7e-3	SMART
PDB:2KP7\|A	11	90	5e-51	PDB
low complexity region	92	107	N/A	INTRINSIC
PDB:2MC3\|A	121	229	1e-48	PDB
ERCC4	270	372	8.31e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000070118

SMART Domains

Protein: ENSMUSP00000064719
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	46	N/A	INTRINSIC
EGF_like	73	113	2.74e-1	SMART
low complexity region	115	130	N/A	INTRINSIC
EGF_CA	142	182	1.08e-10	SMART
EGF_CA	183	221	1.94e-12	SMART
EGF_CA	222	261	1.36e-7	SMART
EGF_CA	262	301	2.19e-11	SMART
EGF	305	347	1.95e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124334

SMART Domains

Protein: ENSMUSP00000114895
Gene: ENSMUSG00000024906

Domain	Start	End	E-Value	Type
SCOP:d1jmsa1	9	73	9e-3	SMART
PDB:2KP7\|A	11	90	9e-51	PDB
low complexity region	92	107	N/A	INTRINSIC
PDB:2MC3\|A	121	229	3e-48	PDB
ERCC4	270	372	8.31e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126471

SMART Domains

Protein: ENSMUSP00000121435
Gene: ENSMUSG00000024906

Domain	Start	End	E-Value	Type
PDB:2KP7\|A	11	72	8e-21	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000133436

SMART Domains

Protein: ENSMUSP00000118580
Gene: ENSMUSG00000024906

Domain	Start	End	E-Value	Type
PDB:2KP7\|A	2	55	5e-30	PDB
low complexity region	57	72	N/A	INTRINSIC
PDB:2MC3\|A	86	194	8e-50	PDB
ERCC4	235	337	8.31e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154215

Predicted Effect

probably benign
Transcript: ENSMUST00000164204

SMART Domains

Protein: ENSMUSP00000128414
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
Pfam:EGF_CA	37	69	5.4e-10	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000164388
AA Change: H149L

SMART Domains

Protein: ENSMUSP00000131979
Gene: ENSMUSG00000024909
AA Change: H149L

Domain	Start	End	E-Value	Type
EGF	4	35	1.59e1	SMART
EGF	39	81	1.95e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165485

SMART Domains

Protein: ENSMUSP00000133016
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_like	54	94	2.74e-1	SMART
low complexity region	96	111	N/A	INTRINSIC
EGF_CA	123	163	1.08e-10	SMART
EGF_CA	164	202	1.94e-12	SMART
EGF_CA	203	242	1.36e-7	SMART
EGF_CA	243	282	2.19e-11	SMART
EGF	286	328	1.95e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166558

Predicted Effect

probably benign
Transcript: ENSMUST00000166253

SMART Domains

Protein: ENSMUSP00000127312
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_CA	54	92	1.94e-12	SMART
EGF_CA	93	132	1.36e-7	SMART
EGF_CA	133	172	2.19e-11	SMART
EGF	176	218	1.95e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166303

SMART Domains

Protein: ENSMUSP00000128827
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167304

SMART Domains

Protein: ENSMUSP00000129982
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:EGF_CA	54	86	2.4e-9	PFAM
low complexity region	96	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167827

SMART Domains

Protein: ENSMUSP00000127478
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
Blast:EGF_like	1	26	9e-10	BLAST
low complexity region	28	43	N/A	INTRINSIC
EGF_CA	55	95	1.08e-10	SMART
EGF_CA	96	134	1.94e-12	SMART
EGF_CA	135	174	1.36e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167371

SMART Domains

Protein: ENSMUSP00000129746
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_like	54	94	2.74e-1	SMART
low complexity region	96	111	N/A	INTRINSIC
EGF_CA	123	161	1.94e-12	SMART
EGF_CA	162	201	1.36e-7	SMART
EGF_CA	202	241	2.19e-11	SMART
EGF	245	287	1.95e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167855

SMART Domains

Protein: ENSMUSP00000132194
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
Blast:EGF_like	1	26	4e-10	BLAST
low complexity region	28	43	N/A	INTRINSIC
EGF_CA	55	95	1.08e-10	SMART
EGF_CA	96	134	1.94e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169943

SMART Domains

Protein: ENSMUSP00000126477
Gene: ENSMUSG00000024909

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168330

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality with abnormal artery and lung morphology and defects in vascular, pulmonary, and hypodermal elastic fibers. Some alleles of Mus81 also affect expression of this gene. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,613,845	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,035,086	N159I	possibly damaging	Het
Agrn	A	T	4: 156,170,845	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Atg2a	A	T	19: 6,250,244	E694V	probably damaging	Het
Ccndbp1	T	A	2: 121,014,691	L363*	probably null	Het
Cdh16	A	T	8: 104,618,064	D478E	probably damaging	Het
Cep295	A	T	9: 15,334,956	W735R	probably benign	Het
Cnnm2	C	T	19: 46,859,083	P682S	probably benign	Het
Daam2	C	A	17: 49,460,710	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,851,476	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,599,034		probably benign	Het
Emilin1	A	G	5: 30,917,066	D217G	probably benign	Het
Enpep	A	T	3: 129,276,771	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,798,572	V623A	probably damaging	Het
Erlin2	T	A	8: 27,027,166		probably null	Het
Fbln2	T	C	6: 91,256,995		probably null	Het
Gga3	A	T	11: 115,591,321	I157N	probably damaging	Het
Gm884	A	G	11: 103,617,891		probably benign	Het
Gtpbp6	C	T	5: 110,107,311		probably benign	Het
Hps4	T	C	5: 112,375,368	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,119,947	Y51C	probably benign	Het
Kif13b	T	C	14: 64,806,154	L1801P	probably benign	Het
Kif16b	T	C	2: 142,848,003	I330V	probably damaging	Het
Klb	A	T	5: 65,348,490	R27W	probably damaging	Het
Lrif1	A	T	3: 106,735,640	K169M	probably damaging	Het
Met	A	G	6: 17,549,059	D970G	probably damaging	Het
Mical3	A	T	6: 120,969,387	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094	N97D	probably benign	Het
Msh5	G	A	17: 35,038,456	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,551,430	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,275,004	G970D	probably damaging	Het
Neb	T	C	2: 52,219,394	Y232C	probably damaging	Het
Nefh	A	G	11: 4,941,333	S429P	probably damaging	Het
Notch3	C	T	17: 32,147,085	G1014D	probably damaging	Het
Nup107	A	T	10: 117,751,418	C859S	probably benign	Het
Olfr1033	A	G	2: 86,041,455	I47V	probably benign	Het
Olfr136	T	G	17: 38,335,627	F157V	probably benign	Het
Olfr412	T	C	11: 74,364,848	Y60H	probably damaging	Het
Otud7b	T	A	3: 96,136,510		probably benign	Het
Pde1a	A	T	2: 79,878,139	S312T	probably benign	Het
Piwil1	G	T	5: 128,740,981	R94L	probably damaging	Het
Pnma2	G	A	14: 66,917,054	W309*	probably null	Het
Ppef2	A	C	5: 92,228,740		probably null	Het
Rabac1	T	A	7: 24,969,967	Q212L	possibly damaging	Het
Rad51	T	C	2: 119,120,492		probably benign	Het
Rbm48	A	T	5: 3,591,853		probably benign	Het
Rft1	C	T	14: 30,677,804	S315L	probably benign	Het
Rgs13	C	T	1: 144,171,479	M1I	probably null	Het
Rhbg	A	C	3: 88,247,453	S215A	probably benign	Het
Rufy2	A	T	10: 63,002,211	N379I	probably damaging	Het
Slc17a1	T	C	13: 23,880,654	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,403,675	R308C	probably benign	Het
Smo	A	G	6: 29,753,571	T149A	probably benign	Het
Sqle	A	G	15: 59,316,085	K81E	probably benign	Het
Tfpi	A	G	2: 84,452,555		probably null	Het
Tnk2	A	G	16: 32,679,630	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,564	M1149K	probably benign	Het
Utrn	T	A	10: 12,727,758	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,808,205	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,890,800	G184*	probably null	Het

Other mutations in Efemp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03011:Efemp2	APN	19	5480065	missense	probably damaging	0.99
IGL03079:Efemp2	APN	19	5475127	missense	probably damaging	1.00
H8562:Efemp2	UTSW	19	5480649	missense	probably benign	0.43
R0149:Efemp2	UTSW	19	5477960	missense	probably damaging	1.00
R0266:Efemp2	UTSW	19	5477999	missense	probably damaging	1.00
R0594:Efemp2	UTSW	19	5475063	unclassified	probably benign
R0723:Efemp2	UTSW	19	5480050	missense	probably damaging	1.00
R2110:Efemp2	UTSW	19	5475162	missense	probably damaging	1.00
R4307:Efemp2	UTSW	19	5481621	missense	possibly damaging	0.82
R4494:Efemp2	UTSW	19	5480311	missense	probably damaging	1.00
R4889:Efemp2	UTSW	19	5475120	missense	probably null	1.00
R5156:Efemp2	UTSW	19	5477678	missense	possibly damaging	0.93
R5165:Efemp2	UTSW	19	5475411	missense	probably damaging	1.00
R6932:Efemp2	UTSW	19	5480245	missense	probably damaging	1.00
R7171:Efemp2	UTSW	19	5480257	missense	probably benign	0.00
R8017:Efemp2	UTSW	19	5477680	nonsense	probably null
R8019:Efemp2	UTSW	19	5477680	nonsense	probably null
R8037:Efemp2	UTSW	19	5480113	nonsense	probably null
R8051:Efemp2	UTSW	19	5476067	missense	probably damaging	1.00
R8101:Efemp2	UTSW	19	5476218	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCCATTGTGCACCGCTAC -3'
(R):5'- TGATCCCAGCTCTGCAGAAAC -3'

Sequencing Primer
(F):5'- ATTGTGCACCGCTACATGAG -3'
(R):5'- GTACTGGGAGTAAGACCCCAC -3'

Posted On

2016-03-17