|Institutional Source||Beutler Lab|
|Gene Name||caudal type homeobox 1|
|Is this an essential gene?||Probably essential (E-score: 0.768)|
|Stock #||R2094 (G1)|
|Chromosomal Location||61018862-61036199 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 61035912 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 70 (D70G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025521 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025521]|
|Predicted Effect||possibly damaging
AA Change: D70G
PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: D70G
|Meta Mutation Damage Score||0.1432|
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded DNA-binding protein regulates intestine-specific gene expression and enterocyte differentiation. It has been shown to induce expression of the intestinal alkaline phosphatase gene, and inhibit beta-catenin/T-cell factor transcriptional activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in abnormalities of the basiocciptal bone, vertebrae, and ribs. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdx1||
(F):5'- ACTCTCGAGAAGCCAATCAGG -3'
(R):5'- ATGTGCTGGACAAGGACTCC -3'
(F):5'- ATCCATTCGTAGGGCGTCC -3'
(R):5'- AAGGACTCCCCCGTGTAC -3'