Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03079:Efemp2'

417804

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 #

IGL03079

Quality Score

Status

Chromosome

Chromosomal Location

5523982-5532545 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5525155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 20 (L20F)

Ref Sequence

ENSEMBL: ENSMUSP00000129982 (fasta)

Gene Model

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

AlphaFold

Q9WVJ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070118
AA Change: L39F

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064719
Gene: ENSMUSG00000024909
AA Change: L39F

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: ENSMUST00000164204
AA Change: L2F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000128414
Gene: ENSMUSG00000024909
AA Change: L2F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164388

SMART Domains

Protein: ENSMUSP00000131979
Gene: ENSMUSG00000024909

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165485
AA Change: L20F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133016
Gene: ENSMUSG00000024909
AA Change: L20F

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 benign
Transcript: ENSMUST00000166253
AA Change: L20F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127312
Gene: ENSMUSG00000024909
AA Change: L20F

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

possibly damaging
Transcript: ENSMUST00000166303
AA Change: L32F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128827
Gene: ENSMUSG00000024909
AA Change: L32F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166558

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167371
AA Change: L20F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129746
Gene: ENSMUSG00000024909
AA Change: L20F

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

possibly damaging
Transcript: ENSMUST00000169943
AA Change: L20F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126477
Gene: ENSMUSG00000024909
AA Change: L20F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167304
AA Change: L20F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129982
Gene: ENSMUSG00000024909
AA Change: L20F

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

noncoding transcript
Transcript: ENSMUST00000167920

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: ENSMUST00000168330

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alx1	T	A	10: 102,845,209 (GRCm39)	H274L	probably damaging	Het
Arl6ip4	A	T	5: 124,254,990 (GRCm39)	H59L	possibly damaging	Het
C1ra	A	G	6: 124,496,794 (GRCm39)	Y410C	probably damaging	Het
Ceacam11	A	G	7: 17,712,361 (GRCm39)	N270S	probably benign	Het
Cmtr1	T	A	17: 29,882,267 (GRCm39)	N39K	possibly damaging	Het
Cmya5	T	C	13: 93,234,209 (GRCm39)	D293G	possibly damaging	Het
Cyp2d11	T	C	15: 82,275,167 (GRCm39)	E260G	probably damaging	Het
Dnajc13	C	T	9: 104,090,068 (GRCm39)	W700*	probably null	Het
Hars1	G	A	18: 36,903,556 (GRCm39)	L289F	probably damaging	Het
Hdlbp	A	G	1: 93,341,662 (GRCm39)		probably benign	Het
Iqgap3	A	T	3: 88,020,477 (GRCm39)	M374L	probably benign	Het
Lrig2	A	T	3: 104,398,287 (GRCm39)	W281R	probably damaging	Het
Lyg2	C	T	1: 37,946,727 (GRCm39)	E185K	possibly damaging	Het
Maml2	A	G	9: 13,532,912 (GRCm39)		probably benign	Het
Marchf11	T	C	15: 26,311,144 (GRCm39)	S207P	probably damaging	Het
Nipa2	A	T	7: 55,583,205 (GRCm39)	V180E	probably damaging	Het
Or4k6	A	T	14: 50,475,581 (GRCm39)	C254S	possibly damaging	Het
P2rx5	A	G	11: 73,055,714 (GRCm39)	D57G	possibly damaging	Het
Pxdn	T	C	12: 30,052,997 (GRCm39)	I1058T	probably damaging	Het
Rxfp3	C	A	15: 11,036,909 (GRCm39)	M154I	possibly damaging	Het
Slc3a1	T	A	17: 85,367,251 (GRCm39)	Y479*	probably null	Het
Tamalin	T	C	15: 101,128,448 (GRCm39)	V162A	probably damaging	Het
Tecrl	G	A	5: 83,442,447 (GRCm39)	H209Y	probably damaging	Het
Ttll5	T	C	12: 85,923,332 (GRCm39)	Y270H	probably damaging	Het
Usp34	A	G	11: 23,382,247 (GRCm39)	E1986G	possibly damaging	Het
Zfp719	A	G	7: 43,240,590 (GRCm39)	Y726C	probably damaging	Het
Zfp810	T	C	9: 22,195,423 (GRCm39)	E7G	probably damaging	Het

Other mutations in Efemp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03011:Efemp2	APN	19	5,530,093 (GRCm39)	missense	probably damaging	0.99
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