Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03011:Efemp2'

407762

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efemp2

Ensembl Gene

ENSMUSG00000024909

Gene Name

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

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03011

Quality Score

Status

Chromosome

Chromosomal Location

5523982-5532545 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 5530093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 187 (Q187K)

Ref Sequence

ENSEMBL: ENSMUSP00000127478 (fasta)

Gene Model

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

AlphaFold

Q9WVJ9

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 damaging
Transcript: ENSMUST00000070118
AA Change: Q274K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064719
Gene: ENSMUSG00000024909
AA Change: Q274K

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: 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

possibly damaging
Transcript: ENSMUST00000167371
AA Change: Q214K

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129746
Gene: ENSMUSG00000024909
AA Change: Q214K

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 damaging
Transcript: ENSMUST00000166253
AA Change: Q145K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127312
Gene: ENSMUSG00000024909
AA Change: Q145K

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 damaging
Transcript: ENSMUST00000165485
AA Change: Q255K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133016
Gene: ENSMUSG00000024909
AA Change: Q255K

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

probably damaging
Transcript: ENSMUST00000167827
AA Change: Q187K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127478
Gene: ENSMUSG00000024909
AA Change: Q187K

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

unknown
Transcript: ENSMUST00000164388
AA Change: Q7K

SMART Domains

Protein: ENSMUSP00000131979
Gene: ENSMUSG00000024909
AA Change: Q7K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167920

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154215

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: 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: 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: ENSMUST00000164204

SMART Domains

Protein: ENSMUSP00000128414
Gene: ENSMUSG00000024909

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168330

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

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Apob	C	A	12: 8,047,883 (GRCm39)	P941Q	probably damaging	Het
Armc9	T	A	1: 86,127,638 (GRCm39)		probably null	Het
Arpc5l	T	C	2: 38,903,730 (GRCm39)		probably benign	Het
Atg2b	C	A	12: 105,592,621 (GRCm39)	D1745Y	probably damaging	Het
Atp9a	A	G	2: 168,494,552 (GRCm39)	V651A	probably damaging	Het
Ccnyl1	T	C	1: 64,747,631 (GRCm39)	I148T	possibly damaging	Het
Cfap95	T	A	19: 23,630,017 (GRCm39)	D25V	unknown	Het
Chrna6	A	T	8: 27,903,682 (GRCm39)	W17R	possibly damaging	Het
Cpne1	G	A	2: 155,919,917 (GRCm39)	H244Y	probably damaging	Het
Cpxm2	A	G	7: 131,650,807 (GRCm39)	Y618H	possibly damaging	Het
Csf1r	T	C	18: 61,243,473 (GRCm39)	I163T	probably benign	Het
Ctdsp1	T	C	1: 74,434,606 (GRCm39)		probably benign	Het
Ctsb	T	A	14: 63,370,806 (GRCm39)	I6N	probably benign	Het
Dcbld1	A	G	10: 52,160,244 (GRCm39)	N44S	probably damaging	Het
Dnah11	C	T	12: 117,976,112 (GRCm39)	C2769Y	probably benign	Het
Elavl3	A	T	9: 21,947,612 (GRCm39)	I109N	probably damaging	Het
Elovl5	G	T	9: 77,890,066 (GRCm39)	K292N	probably benign	Het
Epb41	G	T	4: 131,731,105 (GRCm39)	P1T	probably damaging	Het
Gm44865	G	T	7: 108,165,007 (GRCm39)		probably benign	Het
Gnat2	C	A	3: 108,007,368 (GRCm39)	T262K	probably damaging	Het
Katnip	T	C	7: 125,451,174 (GRCm39)	C1102R	probably benign	Het
Kmt2e	A	T	5: 23,702,540 (GRCm39)	I951F	probably damaging	Het
Large2	T	C	2: 92,197,927 (GRCm39)	H258R	probably damaging	Het
Lnx1	G	A	5: 74,846,420 (GRCm39)	P10L	probably benign	Het
Lrp6	G	A	6: 134,497,380 (GRCm39)	S209L	possibly damaging	Het
Mc3r	A	G	2: 172,091,716 (GRCm39)	I313V	probably benign	Het
Med1	T	C	11: 98,051,859 (GRCm39)	D468G	possibly damaging	Het
Mlxip	T	C	5: 123,584,014 (GRCm39)	S526P	probably benign	Het
Myo15a	T	C	11: 60,400,357 (GRCm39)		probably benign	Het
Nedd1	T	C	10: 92,525,503 (GRCm39)	D602G	possibly damaging	Het
Nol7	C	T	13: 43,554,769 (GRCm39)		probably benign	Het
Or8c10	T	C	9: 38,279,364 (GRCm39)	I174T	possibly damaging	Het
Piezo2	T	C	18: 63,257,731 (GRCm39)	D329G	probably benign	Het
Pkia	G	T	3: 7,507,142 (GRCm39)	E75*	probably null	Het
Pramel26	A	C	4: 143,538,330 (GRCm39)	F214V	possibly damaging	Het
Ptpn14	A	T	1: 189,571,754 (GRCm39)	T282S	probably damaging	Het
Ptprg	C	T	14: 12,219,029 (GRCm38)	P408S	probably damaging	Het
Rpa2	A	G	4: 132,502,358 (GRCm39)	I147V	probably benign	Het
Serpina12	T	C	12: 103,997,397 (GRCm39)	T375A	possibly damaging	Het
Serpinb11	T	A	1: 107,307,546 (GRCm39)	S326T	probably damaging	Het
Slc18a1	T	C	8: 69,491,515 (GRCm39)	T500A	probably benign	Het
Tapt1	A	G	5: 44,350,529 (GRCm39)	F247L	possibly damaging	Het
Trav8d-2	A	G	14: 53,280,218 (GRCm39)	I69M	possibly damaging	Het

Other mutations in Efemp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03079:Efemp2	APN	19	5,525,155 (GRCm39)	missense	probably damaging	1.00
H8562:Efemp2	UTSW	19	5,530,677 (GRCm39)	missense	probably benign	0.43
R0149:Efemp2	UTSW	19	5,527,988 (GRCm39)	missense	probably damaging	1.00
R0266:Efemp2	UTSW	19	5,528,027 (GRCm39)	missense	probably damaging	1.00
R0594:Efemp2	UTSW	19	5,525,091 (GRCm39)	unclassified	probably benign
R0723:Efemp2	UTSW	19	5,530,078 (GRCm39)	missense	probably damaging	1.00
R2110:Efemp2	UTSW	19	5,525,190 (GRCm39)	missense	probably damaging	1.00
R4307:Efemp2	UTSW	19	5,531,649 (GRCm39)	missense	possibly damaging	0.82
R4494:Efemp2	UTSW	19	5,530,339 (GRCm39)	missense	probably damaging	1.00
R4878:Efemp2	UTSW	19	5,530,789 (GRCm39)	unclassified	probably benign
R4889:Efemp2	UTSW	19	5,525,148 (GRCm39)	missense	probably null	1.00
R5156:Efemp2	UTSW	19	5,527,706 (GRCm39)	missense	possibly damaging	0.93
R5165:Efemp2	UTSW	19	5,525,439 (GRCm39)	missense	probably damaging	1.00
R6932:Efemp2	UTSW	19	5,530,273 (GRCm39)	missense	probably damaging	1.00
R7171:Efemp2	UTSW	19	5,530,285 (GRCm39)	missense	probably benign	0.00
R8017:Efemp2	UTSW	19	5,527,708 (GRCm39)	nonsense	probably null
R8019:Efemp2	UTSW	19	5,527,708 (GRCm39)	nonsense	probably null
R8037:Efemp2	UTSW	19	5,530,141 (GRCm39)	nonsense	probably null
R8051:Efemp2	UTSW	19	5,526,095 (GRCm39)	missense	probably damaging	1.00
R8101:Efemp2	UTSW	19	5,526,246 (GRCm39)	nonsense	probably null

Posted On

2016-08-02