Mutagenetix > Incidental Mutation

Incidental Mutation 'R5534:Efemp1'

434724

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

043092-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5534 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28803204-28876743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28817758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 79 (V79A)

Ref Sequence

ENSEMBL: ENSMUSP00000020759 (fasta)

Gene Model

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

AlphaFold

Q8BPB5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020759
AA Change: V79A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020759
Gene: ENSMUSG00000020467
AA Change: V79A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,155,530 (GRCm39)	D163V	probably benign	Het
Ank2	A	T	3: 126,740,947 (GRCm39)		probably benign	Het
Ankmy1	T	C	1: 92,814,442 (GRCm39)	E355G	probably damaging	Het
Ankmy2	A	G	12: 36,232,491 (GRCm39)	N172S	probably damaging	Het
Ankrd50	A	G	3: 38,510,231 (GRCm39)	M712T	probably damaging	Het
Apcdd1	T	C	18: 63,070,105 (GRCm39)	I124T	probably benign	Het
Carmil3	A	G	14: 55,732,347 (GRCm39)	K256R	probably damaging	Het
Cass4	G	T	2: 172,268,688 (GRCm39)	V259L	probably benign	Het
Ccdc141	A	G	2: 76,888,241 (GRCm39)	V508A	probably benign	Het
Ccdc33	A	G	9: 58,024,450 (GRCm39)	S226P	possibly damaging	Het
Cep72	T	C	13: 74,210,335 (GRCm39)	E9G	probably benign	Het
Clca4b	A	T	3: 144,621,227 (GRCm39)	Y616N	probably damaging	Het
Cnot4	A	G	6: 35,054,939 (GRCm39)	S117P	possibly damaging	Het
Col11a2	C	T	17: 34,269,998 (GRCm39)	A429V	probably damaging	Het
Col4a4	T	C	1: 82,465,238 (GRCm39)	E979G	unknown	Het
Coq10b	T	C	1: 55,103,359 (GRCm39)	Y46H	possibly damaging	Het
Cplane1	C	A	15: 8,258,319 (GRCm39)	F2188L	probably benign	Het
Dnah17	T	C	11: 117,943,596 (GRCm39)	T3169A	possibly damaging	Het
Dock6	G	A	9: 21,714,372 (GRCm39)	R1824*	probably null	Het
Dsp	A	C	13: 38,379,818 (GRCm39)	I1589L	probably benign	Het
Edil3	A	G	13: 89,347,593 (GRCm39)	T383A	probably benign	Het
Esyt1	C	T	10: 128,355,329 (GRCm39)	V471I	probably benign	Het
Fbxo30	T	C	10: 11,165,409 (GRCm39)	S44P	possibly damaging	Het
Fdx2	G	T	9: 20,984,562 (GRCm39)	D57E	probably benign	Het
Gbp11	A	T	5: 105,478,904 (GRCm39)	V178D	probably damaging	Het
Gna11	A	T	10: 81,366,967 (GRCm39)	I283N	probably damaging	Het
Grid2	A	T	6: 63,480,345 (GRCm39)	Q53L	probably benign	Het
Jmjd6	A	G	11: 116,731,252 (GRCm39)	S266P	probably damaging	Het
Kirrel1	G	A	3: 86,997,825 (GRCm39)	R233C	probably damaging	Het
Kmt2d	A	G	15: 98,735,238 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,686,267 (GRCm39)	T1171S	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Med13	A	T	11: 86,210,191 (GRCm39)	S650R	probably benign	Het
Meltf	T	A	16: 31,709,632 (GRCm39)		probably null	Het
Mgat1	T	C	11: 49,151,976 (GRCm39)	V153A	probably benign	Het
Mmp16	A	T	4: 18,110,452 (GRCm39)	D416V	probably damaging	Het
Myh3	A	T	11: 66,987,870 (GRCm39)	R1448W	probably damaging	Het
Nedd1	A	T	10: 92,530,894 (GRCm39)	F398L	probably benign	Het
Or2a14	A	G	6: 43,130,567 (GRCm39)	I109M	probably benign	Het
Or4k45	T	C	2: 111,395,349 (GRCm39)	T147A	probably benign	Het
Or5ac17	T	C	16: 59,036,403 (GRCm39)	D191G	probably benign	Het
Or5g9	T	C	2: 85,552,331 (GRCm39)	I194T	probably benign	Het
Otud3	A	G	4: 138,624,894 (GRCm39)	L269P	probably damaging	Het
Otx1	A	G	11: 21,946,296 (GRCm39)		probably benign	Het
Pcdhga7	A	C	18: 37,849,331 (GRCm39)	D446A	probably damaging	Het
Pcnx2	T	G	8: 126,564,754 (GRCm39)	K1046N	possibly damaging	Het
Pfkp	C	A	13: 6,698,619 (GRCm39)	G33W	probably damaging	Het
Poglut2	C	T	1: 44,151,837 (GRCm39)	V351M	probably damaging	Het
Pold1	A	G	7: 44,188,043 (GRCm39)	I585T	probably damaging	Het
Pole4	A	G	6: 82,629,115 (GRCm39)	Y84H	possibly damaging	Het
Pramel26	G	T	4: 143,539,169 (GRCm39)	S108*	probably null	Het
Ptpn23	A	G	9: 110,221,809 (GRCm39)	S126P	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rin3	T	C	12: 102,353,891 (GRCm39)	L766P	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rras2	G	A	7: 113,649,650 (GRCm39)	T138I	possibly damaging	Het
Scrn2	A	G	11: 96,921,751 (GRCm39)	I74V	probably benign	Het
Sema6d	T	C	2: 124,501,735 (GRCm39)	I526T	possibly damaging	Het
Shd	G	T	17: 56,278,577 (GRCm39)	E47*	probably null	Het
Slc22a27	T	C	19: 7,903,996 (GRCm39)	H47R	probably damaging	Het
Slc36a3	C	G	11: 55,033,595 (GRCm39)	W141S	possibly damaging	Het
Slc9c1	T	A	16: 45,376,977 (GRCm39)	V429E	probably benign	Het
Smg8	A	T	11: 86,976,296 (GRCm39)	D428E	probably benign	Het
Snrpe	A	T	1: 133,534,211 (GRCm39)	F84Y	probably benign	Het
Tbc1d2b	C	T	9: 90,109,559 (GRCm39)	D306N	possibly damaging	Het
Trav9n-4	A	G	14: 53,532,356 (GRCm39)	Y70C	probably damaging	Het
Tut7	A	G	13: 59,936,367 (GRCm39)	F843L	probably damaging	Het
Ush1c	A	G	7: 45,870,847 (GRCm39)	I330T	probably damaging	Het
Wnt11	T	C	7: 98,488,349 (GRCm39)	L12P	probably damaging	Het
Zan	A	G	5: 137,436,713 (GRCm39)	S2047P	unknown	Het
Zfp763	A	C	17: 33,240,768 (GRCm39)	S20R	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
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
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'- GACCCCATAAGACAGCAGTG -3'
(R):5'- TCGGCCAGTTTGAACTTCAG -3'

Sequencing Primer
(F):5'- GAGCAGACCTCTGTGTTCATC -3'
(R):5'- GTTTGAACTTCAGGGCCAGCAAC -3'

Posted On

2016-10-24