Mutagenetix > Incidental Mutations

Incidental Mutation 'R2017:Efemp1'

223245

Institutional Source

Beutler Lab

Gene Symbol

Efemp1

Ensembl Gene

ENSMUSG00000020467

Gene Name

epidermal growth factor-containing fibulin-like extracellular matrix protein 1

Synonyms

MMRRC Submission

040026-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2017 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28853204-28926743 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 28921613 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 376 (R376L)

Ref Sequence

ENSEMBL: ENSMUSP00000020759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020759]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020759
AA Change: R376L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020759
Gene: ENSMUSG00000020467
AA Change: R376L

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
EGF_like	44	76	9.53e-2	SMART
low complexity region	87	104	N/A	INTRINSIC
EGF_CA	173	213	5.78e-11	SMART
EGF_CA	214	253	2.35e-11	SMART
EGF_CA	254	293	1.22e-9	SMART
EGF_CA	294	333	1.35e-11	SMART
EGF_like	334	378	3.49e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124103

Predicted Effect

unknown
Transcript: ENSMUST00000139713
AA Change: R80L

SMART Domains

Protein: ENSMUSP00000114757
Gene: ENSMUSG00000020467
AA Change: R80L

Domain	Start	End	E-Value	Type
EGF	2	38	6.86e-4	SMART
EGF_like	39	83	3.49e-3	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. Mice homozygous for a single amino acid substitution develop deposits below the retinal pigment epithelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 165,079,026	D29G	unknown	Het
Abca13	A	T	11: 9,290,619	L827F	probably damaging	Het
Abcc1	T	A	16: 14,461,204	V1126E	probably damaging	Het
Abcc12	A	G	8: 86,563,988	L41S	probably damaging	Het
Adgrg7	T	C	16: 56,732,806	T643A	probably benign	Het
Angpt2	T	C	8: 18,705,731	N240S	probably damaging	Het
Apc	A	G	18: 34,313,602	T1150A	probably benign	Het
Apob	G	A	12: 8,007,751	D2078N	possibly damaging	Het
Apool	T	A	X: 112,364,561	S234T	probably benign	Het
Ascc3	C	T	10: 50,690,211	P751S	probably benign	Het
Astn2	G	A	4: 65,540,941	T1079I	probably damaging	Het
Atp8b1	T	C	18: 64,540,334	N989S	probably damaging	Het
B3gnt2	T	C	11: 22,836,621	D189G	probably damaging	Het
Bcas1	A	C	2: 170,348,161		probably null	Het
Btk	T	C	X: 134,547,601	D355G	probably benign	Het
C2cd4c	A	G	10: 79,612,989	V108A	possibly damaging	Het
Cbfa2t2	T	C	2: 154,517,807	L264P	probably damaging	Het
Cd22	A	T	7: 30,872,780	L423Q	probably damaging	Het
Cep128	T	C	12: 91,366,464	D9G	probably damaging	Het
Cer1	A	T	4: 82,882,883	V181D	probably damaging	Het
Ciita	T	C	16: 10,511,676	L584P	probably damaging	Het
Cmss1	T	C	16: 57,316,278	D77G	probably damaging	Het
Col4a2	T	C	8: 11,445,086	F1515L	probably benign	Het
Dcaf1	T	A	9: 106,839,088	D360E	probably benign	Het
Dcaf1	A	G	9: 106,847,923	E536G	probably damaging	Het
Dnah2	T	A	11: 69,437,070	I3370F	probably damaging	Het
Dsg1c	T	C	18: 20,266,196	V119A	possibly damaging	Het
Edn3	A	G	2: 174,778,662	E103G	probably benign	Het
Eid1	A	G	2: 125,673,201	M4V	probably benign	Het
Emilin3	G	A	2: 160,909,610	R170C	possibly damaging	Het
Epx	T	C	11: 87,874,337	D178G	probably damaging	Het
Fam208b	A	T	13: 3,576,770	I1060K	probably benign	Het
Fam49a	T	A	12: 12,362,361	V208D	probably damaging	Het
Fkbp10	G	A	11: 100,421,673	V252I	possibly damaging	Het
Flnc	G	A	6: 29,443,797		probably null	Het
Fsip2	A	G	2: 82,982,732	K3132E	possibly damaging	Het
Gla	C	T	X: 134,596,322	A39T	probably damaging	Het
H2-Ke6	A	T	17: 34,026,213	M259K	probably damaging	Het
Hivep2	C	T	10: 14,130,757	T1033M	probably damaging	Het
Ikzf4	C	T	10: 128,634,157	G498D	probably damaging	Het
Impg1	T	C	9: 80,440,667	Y95C	probably damaging	Het
Ino80c	T	A	18: 24,111,753	K136*	probably null	Het
Iqsec1	A	C	6: 90,689,930	H508Q	probably benign	Het
Itgb3	A	G	11: 104,637,962	H305R	possibly damaging	Het
Jup	T	A	11: 100,386,341	T14S	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Klf12	T	C	14: 100,022,637	R219G	possibly damaging	Het
Klhl42	G	T	6: 147,107,793	V377L	probably benign	Het
Large1	A	G	8: 72,852,197	F460S	probably damaging	Het
Loxl3	A	T	6: 83,048,977	D402V	probably damaging	Het
Lrrc37a	T	A	11: 103,501,125	Y1158F	probably benign	Het
Map2	T	A	1: 66,412,799	S365T	probably damaging	Het
Mapk8ip1	A	G	2: 92,391,034		probably null	Het
Med26	A	G	8: 72,496,947	S103P	probably damaging	Het
Muc4	T	C	16: 32,751,303	S394P	possibly damaging	Het
Nle1	G	T	11: 82,905,547	P166Q	probably damaging	Het
Obox5	T	C	7: 15,758,882	I254T	probably benign	Het
Olfr1288	G	T	2: 111,479,187	M134I	probably benign	Het
Olfr371	T	C	8: 85,230,744	L83P	possibly damaging	Het
Olfr406	T	A	11: 74,270,333	W315R	probably benign	Het
Olfr592	T	C	7: 103,186,930	F110L	probably benign	Het
Pacs2	A	T	12: 113,062,457	N545Y	probably damaging	Het
Palld	T	C	8: 61,684,765	E652G	probably damaging	Het
Pgm5	T	C	19: 24,824,312	N184S	probably benign	Het
Pitpnm1	T	C	19: 4,111,873	V955A	probably benign	Het
Plcb1	T	A	2: 135,362,420	I898N	possibly damaging	Het
Pramef12	A	G	4: 144,394,674	V260A	possibly damaging	Het
Prr36	T	A	8: 4,215,205	T182S	probably benign	Het
Prss35	A	G	9: 86,755,512	S112G	probably benign	Het
Ptprj	C	T	2: 90,464,614	V417M	probably damaging	Het
Ptprm	G	T	17: 66,957,153		probably null	Het
Rasgrp2	T	C	19: 6,413,165	V498A	probably benign	Het
Rfx6	A	G	10: 51,721,604	N513S	possibly damaging	Het
Rhbdf1	A	G	11: 32,210,471	I693T	probably damaging	Het
Scn9a	T	C	2: 66,515,321	T1143A	probably damaging	Het
Spata17	A	G	1: 187,048,453	S366P	possibly damaging	Het
Svep1	A	G	4: 58,070,568	L2406P	probably benign	Het
Tgfb2	A	T	1: 186,630,765	Y287*	probably null	Het
Trip11	A	T	12: 101,885,360	V815E	probably benign	Het
Trp53bp2	G	T	1: 182,449,015	V854L	probably benign	Het
Ttc30a1	A	G	2: 75,981,457	L94P	probably benign	Het
Vmn1r78	T	C	7: 12,153,343	S294P	possibly damaging	Het
Vmn2r86	T	C	10: 130,446,713	K678R	probably benign	Het
Yeats2	T	A	16: 20,159,181	N138K	probably benign	Het
Zufsp	A	T	10: 33,927,464	N541K	possibly damaging	Het

Other mutations in Efemp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Efemp1	APN	11	28926223	missense	probably benign	0.32
IGL01862:Efemp1	APN	11	28921428	missense	probably damaging	0.97
IGL02568:Efemp1	APN	11	28916971	critical splice donor site	probably null
IGL03175:Efemp1	APN	11	28926259	missense	probably benign	0.04
IGL03014:Efemp1	UTSW	11	28926218	missense	probably damaging	0.96
R0973:Efemp1	UTSW	11	28854538	missense	probably damaging	1.00
R0973:Efemp1	UTSW	11	28854538	missense	probably damaging	1.00
R0974:Efemp1	UTSW	11	28854538	missense	probably damaging	1.00
R1678:Efemp1	UTSW	11	28916942	missense	probably benign	0.00
R1701:Efemp1	UTSW	11	28921750	missense	possibly damaging	0.68
R1831:Efemp1	UTSW	11	28921442	missense	possibly damaging	0.91
R2016:Efemp1	UTSW	11	28921613	missense	probably damaging	1.00
R2024:Efemp1	UTSW	11	28914696	missense	possibly damaging	0.85
R2025:Efemp1	UTSW	11	28914696	missense	possibly damaging	0.85
R2027:Efemp1	UTSW	11	28914696	missense	possibly damaging	0.85
R2084:Efemp1	UTSW	11	28915763	missense	probably damaging	1.00
R2396:Efemp1	UTSW	11	28867941	missense	possibly damaging	0.83
R4803:Efemp1	UTSW	11	28921795	missense	possibly damaging	0.84
R4817:Efemp1	UTSW	11	28926241	missense	probably damaging	1.00
R5201:Efemp1	UTSW	11	28914590	missense	probably benign	0.05
R5297:Efemp1	UTSW	11	28867868	missense	probably damaging	0.99
R5534:Efemp1	UTSW	11	28867758	missense	probably damaging	1.00
R5839:Efemp1	UTSW	11	28921418	missense	possibly damaging	0.95
R6037:Efemp1	UTSW	11	28921760	missense	probably damaging	1.00
R6037:Efemp1	UTSW	11	28921760	missense	probably damaging	1.00
R6314:Efemp1	UTSW	11	28914603	missense	probably benign	0.12
R7067:Efemp1	UTSW	11	28867926	missense	probably damaging	1.00
R7396:Efemp1	UTSW	11	28867501	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGATGAGATGTGCTGGAATTACC -3'
(R):5'- CACCTTTACAGCCACTGGTG -3'

Sequencing Primer
(F):5'- AATTACCATGGGGGCTTCC -3'
(R):5'- AGCCACTGGTGTTACCTAAGC -3'

Posted On

2014-08-25