|Institutional Source||Beutler Lab|
|Gene Name||msh homeobox 1|
|Synonyms||Hox7.1, Hox7, Hox-7, msh, muscle-segment homeobox|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4063 (G1)|
|Chromosomal Location||37820485-37824583 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 37824021 bp|
|Amino Acid Change||Alanine to Serine at position 105 (A105S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058354 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000063116]|
|Predicted Effect||probably benign
AA Change: A105S
PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
AA Change: A105S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.094|
|Coding Region Coverage||
|Validation Efficiency||97% (59/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants affect craniofacial neural crest-derived mesenchyme by controlling cell cycle progression. Homozygous null mutants die at birth with multiple craniofacial defects including cleft palate, reduced mandible and maxilla, and retarded tooth development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Msx1||
(F):5'- AGGTACCCAGTTGCAGGTAC -3'
(R):5'- ACTCGGTGTCAAAGTGGAGG -3'
(F):5'- AGTTGCAGGTACGCCGAC -3'
(R):5'- CTTCGCCAAGCCTGCTG -3'