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|Institutional Source||Beutler Lab|
|Gene Name||reversion-inducing-cysteine-rich protein with kazal motifs|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2430 (G1)|
|Chromosomal Location||43875530-43944806 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 43930202 bp|
|Amino Acid Change||Threonine to Isoleucine at position 592 (T592I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030198 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030198]|
|Predicted Effect||possibly damaging
AA Change: T592I
PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: T592I
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in lethality around E10.5-E11.5, defects in collagen fibrils, basal lamina and vascular development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Reck||
(F):5'- CCTTAGATTTAGGCCCCTAGTTT -3'
(R):5'- TGCAGTGCCTGGGAGAGAA -3'
(F):5'- AAACCTGACCTGAGTGTGCTC -3'
(R):5'- TGCCTGGGAGAGAACAAGTGC -3'