|Institutional Source||Beutler Lab|
|Gene Name||multiple EGF-like-domains 8|
|Synonyms||Egfl4, b2b1702Clo, m687Ddg, b2b288Clo|
|Is this an essential gene?||Probably essential (E-score: 0.936)|
|Stock #||R6457 (G1)|
|Chromosomal Location||25317164-25365917 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 25349695 bp|
|Amino Acid Change||Aspartic acid to Valine at position 1739 (D1739V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000122192 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000128119]|
|Predicted Effect||probably damaging
AA Change: D1739V
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: D1739V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2759|
|Coding Region Coverage||
|Validation Efficiency||97% (63/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for an ENU mutation exhibit varying degrees of heterotaxia and congenital heart defects. Mice homozygous for another ENU-induced mutation exhibit abnormal development and patterning of the peripheral nervous system. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Megf8||
(F):5'- AGTTTCCCTCTCAAACTGGG -3'
(R):5'- AAGGACAGACCGACTCCTTC -3'
(F):5'- TCTCAAACTGGGAGAAGAGGG -3'
(R):5'- AGGAACTCAGTGGCCTCTAGTTAC -3'