|Institutional Source||Beutler Lab|
|Synonyms||early quiescence protein-1, EQ-1, 1810032B19Rik, 5033416F05Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.154)|
|Stock #||R3406 (G1)|
|Chromosomal Location||164796644-164824266 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 164796931 bp|
|Amino Acid Change||Glutamic Acid to Alanine at position 67 (E67A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027861 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027861]|
|Predicted Effect||probably damaging
AA Change: E67A
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: E67A
|Meta Mutation Damage Score||0.13|
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the behavior of TGF-beta through interaction with decorin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit skin with increased elasticity, decreased thickness, and reduced collagen content, and possess more subcutaneous adipose tissue. Corneal thickness is reduced as well. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dpt||
(F):5'- ATGGACCTCACTCTTCTGTGGG -3'
(R):5'- ATGTGCCCAGGTTATGAGCC -3'
(F):5'- GGTTCTTCTGCCACTGGTGAC -3'
(R):5'- ATGAGCCCTGCTATTTTAAGGACC -3'