|Institutional Source||Beutler Lab|
|Gene Name||BarH-like homeobox 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7263 (G1)|
|Chromosomal Location||48662998-48666507 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 48665079 bp|
|Amino Acid Change||Glycine to Cysteine at position 93 (G93C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021813 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021813]|
|Predicted Effect||probably damaging
AA Change: G93C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: G93C
|Coding Region Coverage||
|Validation Efficiency||96% (67/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation die around E13 embryonic stage with shrunken and malformed stomach or shortly after birth with cleft palate and abnormal tooth development depending on strain background. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Barx1||
(F):5'- TCGGGATAGCTACCTGAAGGAG -3'
(R):5'- AGCTCAGTGAATACGGTGC -3'
(F):5'- CAGGATGCTGGGTTTAAATCCCC -3'
(R):5'- TCAGTGAATACGGTGCGACTC -3'