|Institutional Source||Beutler Lab|
|Gene Name||epidermal growth factor-containing fibulin-like extracellular matrix protein 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2027 (G1)|
|Chromosomal Location||28853204-28926743 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 28914696 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 250 (Y250F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020759 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020759]|
|Predicted Effect||possibly damaging
AA Change: Y250F
PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: Y250F
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.076|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
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||
|Other mutations in Efemp1||
(F):5'- TTGCTAAGACACAACTTGGTTC -3'
(R):5'- TTTGATCCACCCACAGAGGAC -3'
(F):5'- CCTTCTGTGCGCTGGAATTAAAGAC -3'
(R):5'- GTTTCCCATTTCTAAATGATGTGC -3'