Incidental Mutation 'R2908:Bhlha9'
ID 261110
Institutional Source Beutler Lab
Gene Symbol Bhlha9
Ensembl Gene ENSMUSG00000044243
Gene Name basic helix-loop-helix family, member a9
Synonyms Fingerin, A830053O21Rik
MMRRC Submission 040495-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2908 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 76563296-76564502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76563433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 20 (V20A)
Ref Sequence ENSEMBL: ENSMUSP00000050516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056184]
AlphaFold Q5RJB0
Predicted Effect probably benign
Transcript: ENSMUST00000056184
AA Change: V20A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050516
Gene: ENSMUSG00000044243
AA Change: V20A

DomainStartEndE-ValueType
low complexity region 7 13 N/A INTRINSIC
low complexity region 44 49 N/A INTRINSIC
HLH 67 119 3.66e-8 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype 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
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,149,237 (GRCm39) probably null Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Atp1a4 A G 1: 172,062,044 (GRCm39) Y694H probably benign Het
Ccl28 C A 13: 120,112,398 (GRCm39) probably null Het
Cdk14 T C 5: 5,299,051 (GRCm39) I55V probably benign Het
Cit C A 5: 116,119,735 (GRCm39) D1246E probably benign Het
Clp1 A G 2: 84,554,488 (GRCm39) V227A possibly damaging Het
Dhx29 T C 13: 113,064,385 (GRCm39) V20A possibly damaging Het
Lima1 C T 15: 99,699,991 (GRCm39) probably null Het
Lyst A G 13: 13,844,458 (GRCm39) I1883V probably benign Het
Myh1 C T 11: 67,111,522 (GRCm39) Q1654* probably null Het
Or5d46 T C 2: 88,170,827 (GRCm39) I306T probably benign Het
Pbx3 G T 2: 34,062,933 (GRCm39) T422K probably damaging Het
Plekhg4 T C 8: 106,107,493 (GRCm39) L1008P probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Slc25a40 C T 5: 8,477,505 (GRCm39) T30I probably damaging Het
Spata31d1c A T 13: 65,181,005 (GRCm39) I35F possibly damaging Het
Tmem18 A T 12: 30,637,252 (GRCm39) R78* probably null Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Zfp53 C A 17: 21,728,736 (GRCm39) C256* probably null Het
Other mutations in Bhlha9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01883:Bhlha9 APN 11 76,563,924 (GRCm39) missense probably benign 0.13
IGL02998:Bhlha9 APN 11 76,563,570 (GRCm39) missense probably damaging 1.00
R1537:Bhlha9 UTSW 11 76,563,457 (GRCm39) missense probably benign
R5576:Bhlha9 UTSW 11 76,563,595 (GRCm39) missense probably damaging 1.00
R7284:Bhlha9 UTSW 11 76,563,492 (GRCm39) missense probably benign 0.04
R7728:Bhlha9 UTSW 11 76,563,915 (GRCm39) missense possibly damaging 0.49
R8220:Bhlha9 UTSW 11 76,563,703 (GRCm39) missense probably damaging 1.00
R9411:Bhlha9 UTSW 11 76,564,018 (GRCm39) missense probably benign
V1662:Bhlha9 UTSW 11 76,563,862 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- GCCATAAAGCCCAGCTAGAG -3'
(R):5'- ATCTTGGAGAGCCTCTTGCC -3'

Sequencing Primer
(F):5'- CCAGCTAGAGAGGACCTGTC -3'
(R):5'- ACGCCTCGTTGTAATCCAGGATG -3'
Posted On 2015-01-23