Mutagenetix > Incidental Mutation

Incidental Mutation 'R2025:Efemp1'

220484

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

040034-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2025 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

28803204-28876743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28864696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 250 (Y250F)

Ref Sequence

ENSEMBL: ENSMUSP00000020759 (fasta)

Gene Model

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

AlphaFold

Q8BPB5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020759
AA Change: Y250F

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020759
Gene: ENSMUSG00000020467
AA Change: Y250F

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

probably benign
Transcript: ENSMUST00000139713

SMART Domains

Protein: ENSMUSP00000114757
Gene: ENSMUSG00000020467

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

Meta Mutation Damage Score

0.0796

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

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
Abcc4	T	C	14: 118,790,737 (GRCm39)	M757V	probably benign	Het
Abitram	T	A	4: 56,805,916 (GRCm39)	I138N	probably damaging	Het
Acan	T	G	7: 78,750,970 (GRCm39)	S1914A	probably benign	Het
Axin2	T	A	11: 108,833,904 (GRCm39)	V617D	probably damaging	Het
Bhlhe22	A	G	3: 18,109,975 (GRCm39)	S342G	probably benign	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,723,108 (GRCm39)		probably null	Het
Ccdc34	A	G	2: 109,862,731 (GRCm39)	K179E	possibly damaging	Het
Clasp1	A	G	1: 118,432,629 (GRCm39)	T208A	probably damaging	Het
Crabp1	C	T	9: 54,675,752 (GRCm39)	R112*	probably null	Het
Cstdc1	T	C	2: 148,624,148 (GRCm39)	F41L	probably damaging	Het
D130040H23Rik	A	G	8: 69,755,525 (GRCm39)	N310S	probably benign	Het
Dalrd3	T	C	9: 108,448,284 (GRCm39)	I278T	probably benign	Het
Dbp	C	A	7: 45,357,700 (GRCm39)	D89E	probably benign	Het
Dennd2c	A	G	3: 103,039,005 (GRCm39)	D51G	possibly damaging	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Disp1	G	T	1: 182,869,767 (GRCm39)	F884L	probably damaging	Het
Dmrtb1	T	C	4: 107,540,782 (GRCm39)	D193G	probably damaging	Het
Dnah8	A	G	17: 30,950,133 (GRCm39)	D1984G	probably damaging	Het
Dpf2	T	C	19: 5,952,781 (GRCm39)	Y218C	possibly damaging	Het
Dsg4	C	T	18: 20,599,693 (GRCm39)	Q770*	probably null	Het
Erbin	A	T	13: 103,966,703 (GRCm39)	I1249N	probably benign	Het
F5	A	G	1: 164,037,044 (GRCm39)	K1928E	probably benign	Het
Fhip1b	A	G	7: 105,038,143 (GRCm39)	V260A	probably damaging	Het
Gdf11	T	A	10: 128,727,314 (GRCm39)	I81F	probably damaging	Het
Gm10518	T	A	1: 179,631,483 (GRCm39)		probably benign	Het
Grb10	G	C	11: 11,920,576 (GRCm39)	S14*	probably null	Het
Greb1l	A	T	18: 10,515,221 (GRCm39)	Y562F	possibly damaging	Het
Gtf2ird1	T	C	5: 134,392,788 (GRCm39)	E789G	probably damaging	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Hpx	A	G	7: 105,244,311 (GRCm39)	S266P	probably damaging	Het
Hs6st3	A	G	14: 120,106,801 (GRCm39)	D403G	probably damaging	Het
Igf2bp1	A	G	11: 95,864,996 (GRCm39)	V151A	possibly damaging	Het
Itga11	C	T	9: 62,670,093 (GRCm39)	T739I	probably damaging	Het
Kalrn	T	C	16: 34,010,106 (GRCm39)	I702V	probably damaging	Het
Kif2b	C	T	11: 91,468,172 (GRCm39)	S37N	probably damaging	Het
Kng2	T	A	16: 22,819,325 (GRCm39)	D237V	probably benign	Het
Krtap27-1	C	A	16: 88,468,173 (GRCm39)	V124L	possibly damaging	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Macf1	C	T	4: 123,265,711 (GRCm39)	A4821T	probably damaging	Het
Msh5	T	A	17: 35,251,768 (GRCm39)	I431F	possibly damaging	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nin	T	A	12: 70,076,782 (GRCm39)	Q1091L	probably damaging	Het
Nom1	A	C	5: 29,651,849 (GRCm39)	D729A	probably damaging	Het
Or52e8	C	A	7: 104,624,451 (GRCm39)	G247V	probably benign	Het
P2ry14	A	T	3: 59,022,866 (GRCm39)	V207E	probably damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Pla2g6	A	C	15: 79,170,964 (GRCm39)	L804R	probably damaging	Het
Poglut1	A	T	16: 38,358,267 (GRCm39)		probably null	Het
Prkcz	A	T	4: 155,374,167 (GRCm39)	V83D	probably damaging	Het
Prss50	T	C	9: 110,690,328 (GRCm39)	F157S	probably benign	Het
Psors1c2	A	G	17: 35,845,099 (GRCm39)		probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab7	G	A	6: 87,981,161 (GRCm39)	L174F	probably damaging	Het
Rapgef4	A	G	2: 72,073,083 (GRCm39)	T790A	probably benign	Het
Rb1cc1	G	T	1: 6,315,533 (GRCm39)	V503L	probably damaging	Het
Sbf1	T	A	15: 89,186,933 (GRCm39)	E815V	probably damaging	Het
Setd3	T	A	12: 108,126,526 (GRCm39)	E104V	probably damaging	Het
Slc39a5	A	T	10: 128,234,279 (GRCm39)	L208Q	probably damaging	Het
Slc39a5	G	T	10: 128,234,280 (GRCm39)	L208M	probably damaging	Het
Slc3a1	T	G	17: 85,340,273 (GRCm39)	Y232D	probably damaging	Het
Slc8a1	T	A	17: 81,956,541 (GRCm39)	S166C	probably damaging	Het
Stard9	T	A	2: 120,532,879 (GRCm39)	D3045E	probably benign	Het
Stk4	C	A	2: 163,938,751 (GRCm39)	D206E	probably damaging	Het
Syn3	T	C	10: 86,302,846 (GRCm39)	D103G	probably damaging	Het
Tbc1d30	T	A	10: 121,115,051 (GRCm39)	Y369F	probably benign	Het
Tenm2	G	T	11: 35,938,091 (GRCm39)	Y1527*	probably null	Het
Tfg	T	C	16: 56,525,988 (GRCm39)	K85R	possibly damaging	Het
Timp3	T	C	10: 86,136,749 (GRCm39)	L11P	probably damaging	Het
Tmem144	A	T	3: 79,735,018 (GRCm39)		probably null	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Tnks2	C	T	19: 36,843,466 (GRCm39)	L464F	probably damaging	Het
Trank1	T	C	9: 111,221,107 (GRCm39)	F2615L	probably benign	Het
Trio	T	C	15: 27,744,223 (GRCm39)	K2570E	probably damaging	Het
Trio	T	A	15: 27,774,013 (GRCm39)	D673V	probably damaging	Het
Ublcp1	A	T	11: 44,356,458 (GRCm39)	C87S	probably benign	Het
Unc13a	C	T	8: 72,092,412 (GRCm39)	E1386K	possibly damaging	Het
Wdr41	C	T	13: 95,155,456 (GRCm39)	H404Y	probably damaging	Het
Zfp280b	T	C	10: 75,874,328 (GRCm39)	L69S	probably damaging	Het
Zfp346	T	C	13: 55,280,121 (GRCm39)	S282P	probably damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het
Zfp78	T	A	7: 6,378,513 (GRCm39)		probably null	Het
Zswim9	T	C	7: 13,003,292 (GRCm39)	E186G	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
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'- TTGCTAAGACACAACTTGGTTC -3'
(R):5'- TTTGATCCACCCACAGAGGAC -3'

Sequencing Primer
(F):5'- CCTTCTGTGCGCTGGAATTAAAGAC -3'
(R):5'- GTTTCCCATTTCTAAATGATGTGC -3'

Posted On

2014-08-25