|Institutional Source||Beutler Lab|
|Gene Name||Fraser extracellular matrix complex subunit 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6256 (G1)|
|Chromosomal Location||96373955-96784728 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 96733843 bp|
|Amino Acid Change||Aspartic acid to Valine at position 2478 (D2478V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043250 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036019]|
|Predicted Effect||possibly damaging
AA Change: D2478V
PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: D2478V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.322|
|Coding Region Coverage||
|Validation Efficiency||99% (74/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fras1||
(F):5'- TTGTGAAAACTTCCAGGACAGAG -3'
(R):5'- TAGCAGTAAGTGACAGTGGC -3'
(F):5'- CAGACTTTTCTGTGCAGCAAATGC -3'
(R):5'- CAAAAATATGGCAGAGCAGCATTTG -3'