|Institutional Source||Beutler Lab|
|Gene Name||basic helix-loop-helix family, member a9|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7284 (G1)|
|Chromosomal Location||76672470-76673676 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 76672666 bp|
|Amino Acid Change||Serine to Glycine at position 40 (S40G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050516 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056184]|
|Predicted Effect||probably benign
AA Change: S40G
PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
AA Change: S40G
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit variable asymmetrical syndactyly and interdigital webbing due to reduced interdigital apoptosis and incomplete separation of soft, but not skeletal, tissues between forelimb digits 2 and 3. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bhlha9||
(F):5'- TAAAGCCCAGCTAGAGAGGACC -3'
(R):5'- ATCTTGGAGAGCCTCTTGCC -3'
(F):5'- CATCAGTCAGTGGACCAGCAG -3'
(R):5'- TTGCCTCCGAGGTCATGCTG -3'