Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Efemp1'

82961

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

039102-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28803204-28876743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28804538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 22 (E22G)

Ref Sequence

ENSEMBL: ENSMUSP00000020759 (fasta)

Gene Model

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

AlphaFold

Q8BPB5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020759
AA Change: E22G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020759
Gene: ENSMUSG00000020467
AA Change: E22G

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

Meta Mutation Damage Score

0.2792

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (70/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,997 (GRCm39)		probably null	Het
Adam18	T	C	8: 25,137,869 (GRCm39)	T324A	probably benign	Het
AI429214	A	G	8: 37,461,473 (GRCm39)	Q207R	probably benign	Het
Asic5	C	T	3: 81,915,755 (GRCm39)		probably benign	Het
Atp13a1	T	C	8: 70,254,794 (GRCm39)		probably null	Het
Atp6v0a1	T	A	11: 100,946,317 (GRCm39)	L770*	probably null	Het
B3gnt5	T	A	16: 19,588,760 (GRCm39)	D326E	probably damaging	Het
Btbd9	T	A	17: 30,518,607 (GRCm39)	D451V	probably damaging	Het
Cd46	T	C	1: 194,724,300 (GRCm39)	*366W	probably null	Het
Cdcp3	T	C	7: 130,839,911 (GRCm39)	L611P	probably damaging	Het
Cenpc1	A	T	5: 86,185,767 (GRCm39)	V248E	probably damaging	Het
Cep152	A	G	2: 125,436,819 (GRCm39)	S574P	probably benign	Het
Cep250	A	G	2: 155,806,209 (GRCm39)		probably benign	Het
Chd2	A	G	7: 73,128,412 (GRCm39)	S858P	probably damaging	Het
Cxcl1	A	T	5: 91,039,626 (GRCm39)	K85*	probably null	Het
Daam1	A	C	12: 71,962,558 (GRCm39)	K90T	unknown	Het
Dip2c	G	A	13: 9,626,944 (GRCm39)	A632T	probably damaging	Het
Dmtf1	T	A	5: 9,177,987 (GRCm39)	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,579,710 (GRCm39)	V3081A	probably damaging	Het
Dnah9	A	T	11: 65,896,663 (GRCm39)		probably null	Het
Ephb6	A	G	6: 41,591,038 (GRCm39)	D65G	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,807,436 (GRCm39)	T1252S	probably benign	Het
Gm12500	T	C	3: 107,993,792 (GRCm39)		probably null	Het
Gm6327	T	C	16: 12,578,977 (GRCm39)		noncoding transcript	Het
Golga4	T	C	9: 118,366,341 (GRCm39)	I365T	probably damaging	Het
Gp2	A	T	7: 119,053,766 (GRCm39)	L65Q	probably damaging	Het
Ice1	C	A	13: 70,750,546 (GRCm39)	V1847L	probably benign	Het
Ift172	T	C	5: 31,415,262 (GRCm39)		probably benign	Het
Kbtbd7	A	G	14: 79,664,870 (GRCm39)	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,332,576 (GRCm39)	T235A	probably benign	Het
Klk13	T	C	7: 43,370,582 (GRCm39)		probably null	Het
Lgals8	A	T	13: 12,466,276 (GRCm39)		probably benign	Het
Lrfn5	G	A	12: 61,890,223 (GRCm39)	G504D	probably damaging	Het
Map6	G	A	7: 98,985,950 (GRCm39)	G821D	possibly damaging	Het
Mcpt8	T	C	14: 56,321,257 (GRCm39)		probably benign	Het
Myh13	T	A	11: 67,223,346 (GRCm39)	I222N	probably damaging	Het
Myh7b	G	A	2: 155,462,347 (GRCm39)	C350Y	probably benign	Het
Naa25	T	C	5: 121,576,779 (GRCm39)		probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm3	C	A	3: 114,895,635 (GRCm39)	S172R	probably benign	Het
Or13e8	A	G	4: 43,696,706 (GRCm39)	S156P	probably damaging	Het
Or1j14	A	G	2: 36,418,020 (GRCm39)	I199V	probably benign	Het
Or4c1	A	T	2: 89,133,528 (GRCm39)	I136N	probably damaging	Het
Or5d40	A	T	2: 88,015,322 (GRCm39)	T34S	probably benign	Het
Pacs1	A	T	19: 5,193,857 (GRCm39)	D557E	probably damaging	Het
Phactr2	T	C	10: 13,122,883 (GRCm39)	D343G	possibly damaging	Het
Pkd2l2	A	G	18: 34,561,305 (GRCm39)	T438A	probably damaging	Het
Pld2	T	C	11: 70,447,907 (GRCm39)	W857R	probably damaging	Het
Pm20d2	T	A	4: 33,174,734 (GRCm39)		probably benign	Het
Rilpl1	A	G	5: 124,639,951 (GRCm39)	I122T	possibly damaging	Het
Rilpl1	A	G	5: 124,639,934 (GRCm39)	S156P	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,284,078 (GRCm39)	V260A	probably benign	Het
Skint1	T	G	4: 111,885,412 (GRCm39)		probably benign	Het
Slc33a1	A	G	3: 63,850,725 (GRCm39)	F533S	probably benign	Het
Slc38a4	C	T	15: 96,903,739 (GRCm39)	V421M	probably benign	Het
Snx14	A	G	9: 88,282,774 (GRCm39)		probably null	Het
Spag7	A	G	11: 70,560,008 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,109,381 (GRCm39)	Q55L	probably damaging	Het
Tm9sf1	T	C	14: 55,880,392 (GRCm39)	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,713,699 (GRCm39)	T122A	probably benign	Het
Tmem59l	G	A	8: 70,938,710 (GRCm39)	P124S	possibly damaging	Het
Trpv6	T	A	6: 41,602,122 (GRCm39)	T396S	probably benign	Het
Usp24	T	A	4: 106,228,276 (GRCm39)	Y780*	probably null	Het
Usp24	A	G	4: 106,270,875 (GRCm39)		probably null	Het
Utp25	A	T	1: 192,797,011 (GRCm39)	N573K	probably damaging	Het
Vmn2r53	A	G	7: 12,335,319 (GRCm39)	F114L	probably damaging	Het
Zfp626	G	A	7: 27,517,907 (GRCm39)	R296H	probably damaging	Het

Other mutations in Efemp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Efemp1	APN	11	28,876,223 (GRCm39)	missense	probably benign	0.32
IGL01862:Efemp1	APN	11	28,871,428 (GRCm39)	missense	probably damaging	0.97
IGL02568:Efemp1	APN	11	28,866,971 (GRCm39)	critical splice donor site	probably null
IGL03175:Efemp1	APN	11	28,876,259 (GRCm39)	missense	probably benign	0.04
IGL03014:Efemp1	UTSW	11	28,876,218 (GRCm39)	missense	probably damaging	0.96
R0973:Efemp1	UTSW	11	28,804,538 (GRCm39)	missense	probably damaging	1.00
R0974:Efemp1	UTSW	11	28,804,538 (GRCm39)	missense	probably damaging	1.00
R1678:Efemp1	UTSW	11	28,866,942 (GRCm39)	missense	probably benign	0.00
R1701:Efemp1	UTSW	11	28,871,750 (GRCm39)	missense	possibly damaging	0.68
R1831:Efemp1	UTSW	11	28,871,442 (GRCm39)	missense	possibly damaging	0.91
R2016:Efemp1	UTSW	11	28,871,613 (GRCm39)	missense	probably damaging	1.00
R2017:Efemp1	UTSW	11	28,871,613 (GRCm39)	missense	probably damaging	1.00
R2024:Efemp1	UTSW	11	28,864,696 (GRCm39)	missense	possibly damaging	0.85
R2025:Efemp1	UTSW	11	28,864,696 (GRCm39)	missense	possibly damaging	0.85
R2027:Efemp1	UTSW	11	28,864,696 (GRCm39)	missense	possibly damaging	0.85
R2084:Efemp1	UTSW	11	28,865,763 (GRCm39)	missense	probably damaging	1.00
R2396:Efemp1	UTSW	11	28,817,941 (GRCm39)	missense	possibly damaging	0.83
R4803:Efemp1	UTSW	11	28,871,795 (GRCm39)	missense	possibly damaging	0.84
R4817:Efemp1	UTSW	11	28,876,241 (GRCm39)	missense	probably damaging	1.00
R5201:Efemp1	UTSW	11	28,864,590 (GRCm39)	missense	probably benign	0.05
R5297:Efemp1	UTSW	11	28,817,868 (GRCm39)	missense	probably damaging	0.99
R5534:Efemp1	UTSW	11	28,817,758 (GRCm39)	missense	probably damaging	1.00
R5839:Efemp1	UTSW	11	28,871,418 (GRCm39)	missense	possibly damaging	0.95
R6037:Efemp1	UTSW	11	28,871,760 (GRCm39)	missense	probably damaging	1.00
R6037:Efemp1	UTSW	11	28,871,760 (GRCm39)	missense	probably damaging	1.00
R6314:Efemp1	UTSW	11	28,864,603 (GRCm39)	missense	probably benign	0.12
R7067:Efemp1	UTSW	11	28,817,926 (GRCm39)	missense	probably damaging	1.00
R7396:Efemp1	UTSW	11	28,817,501 (GRCm39)	missense	possibly damaging	0.92
R8223:Efemp1	UTSW	11	28,804,528 (GRCm39)	missense	probably benign	0.13
R8243:Efemp1	UTSW	11	28,871,690 (GRCm39)	missense	probably damaging	0.99
R8279:Efemp1	UTSW	11	28,871,795 (GRCm39)	missense	possibly damaging	0.52
R8313:Efemp1	UTSW	11	28,860,691 (GRCm39)	missense	probably benign	0.39
R8378:Efemp1	UTSW	11	28,871,765 (GRCm39)	missense	probably damaging	0.98
Z1177:Efemp1	UTSW	11	28,817,909 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AAATAGACAGATGCTGCGCCCC -3'
(R):5'- AGACCCAGCACGATTTACCAGGAG -3'

Sequencing Primer
(F):5'- TGTGGTATAAACACACGCTGAAC -3'
(R):5'- GATTTACCAGGAGTCCTAAACCTGAG -3'

Posted On

2013-11-08