|Institutional Source||Beutler Lab|
|Gene Name||homeobox D12|
|Is this an essential gene?||Possibly non essential (E-score: 0.362)|
|Stock #||R7972 (G1)|
|Chromosomal Location||74675013-74677705 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 74675925 bp|
|Amino Acid Change||Arginine to Leucine at position 227 (R227L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001878 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001872] [ENSMUST00000001878]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: R227L
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: R227L
|Meta Mutation Damage Score||0.6329|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit minor forelimb defects affecting carpals, metacarpals, and phalanges, and alterations of smooth muscle layers of the rectum resulting in malformation of the internal anal sphincter. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hoxd12||
(F):5'- TGTCAGGGACAGTTGGACAG -3'
(R):5'- TCCTCAGCTACAGACTGAGC -3'
(F):5'- CAGCAGTGGTGAACGTCTG -3'
(R):5'- CCAGGCCTTGGTCCAAAAG -3'