Incidental Mutation 'R3147:Baalc'
ID 264299
Institutional Source Beutler Lab
Gene Symbol Baalc
Ensembl Gene ENSMUSG00000022296
Gene Name brain and acute leukemia, cytoplasmic
Synonyms 2810457D07Rik
MMRRC Submission 040599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R3147 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 38739763-38814659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38812568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 106 (E106V)
Ref Sequence ENSEMBL: ENSMUSP00000132788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163313] [ENSMUST00000226440]
AlphaFold Q8VHV1
Predicted Effect possibly damaging
Transcript: ENSMUST00000163313
AA Change: E106V

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181362
Predicted Effect possibly damaging
Transcript: ENSMUST00000226440
AA Change: E75V

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T C X: 66,964,984 (GRCm39) D12G probably benign Het
Alg2 A T 4: 47,472,259 (GRCm39) V183D probably damaging Het
Amy1 T C 3: 113,363,697 (GRCm39) probably benign Het
Asb15 G T 6: 24,566,258 (GRCm39) A404S probably damaging Het
Atf2 T C 2: 73,681,283 (GRCm39) probably null Het
Atosa A G 9: 74,916,120 (GRCm39) I240V probably benign Het
Catsperd G T 17: 56,971,039 (GRCm39) C701F possibly damaging Het
Cc2d2a T A 5: 43,866,497 (GRCm39) I769N probably damaging Het
Ccdc158 T C 5: 92,805,822 (GRCm39) N311S probably damaging Het
Dbx1 C A 7: 49,286,297 (GRCm39) R56L probably damaging Het
Eif4enif1 T A 11: 3,194,003 (GRCm39) probably null Het
Elmod3 T G 6: 72,563,485 (GRCm39) T48P probably benign Het
Erbb2 T C 11: 98,324,865 (GRCm39) S820P probably damaging Het
Gimap8 T C 6: 48,627,440 (GRCm39) V138A probably damaging Het
H1f5 T C 13: 21,964,285 (GRCm39) probably benign Het
Il6ra G T 3: 89,793,235 (GRCm39) P305Q probably benign Het
Kcng3 A G 17: 83,895,749 (GRCm39) V239A possibly damaging Het
Kcnrg T C 14: 61,845,140 (GRCm39) F60S probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama1 A G 17: 68,044,653 (GRCm39) D184G probably damaging Het
Lhcgr A T 17: 89,065,771 (GRCm39) L206Q probably damaging Het
Lhx3 T C 2: 26,091,277 (GRCm39) D344G probably benign Het
Marf1 A G 16: 13,943,843 (GRCm39) V1380A possibly damaging Het
Mtcl2 T G 2: 156,862,284 (GRCm39) K1548N possibly damaging Het
Mtfr1 T C 3: 19,271,374 (GRCm39) V182A probably benign Het
Or14a259 A G 7: 86,013,092 (GRCm39) L151S probably benign Het
Or5p64 C T 7: 107,854,883 (GRCm39) G154D possibly damaging Het
Rsf1 CG CGACGGAGGAG 7: 97,229,115 (GRCm39) probably benign Het
Snx4 A C 16: 33,108,094 (GRCm39) D296A probably benign Het
Sox7 A T 14: 64,186,083 (GRCm39) Y373F probably damaging Het
Tuba1b T C 15: 98,830,386 (GRCm39) T145A probably benign Het
Usp32 T A 11: 84,919,913 (GRCm39) N718I probably damaging Het
Wapl G A 14: 34,447,106 (GRCm39) V648M probably damaging Het
Zfp85 C T 13: 67,900,612 (GRCm39) V10M probably damaging Het
Zgrf1 A G 3: 127,377,797 (GRCm39) N1014S possibly damaging Het
Other mutations in Baalc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0492:Baalc UTSW 15 38,797,480 (GRCm39) splice site probably benign
R2051:Baalc UTSW 15 38,796,629 (GRCm39) unclassified probably benign
R3148:Baalc UTSW 15 38,812,568 (GRCm39) missense possibly damaging 0.92
R4821:Baalc UTSW 15 38,796,575 (GRCm39) unclassified probably benign
R7807:Baalc UTSW 15 38,797,412 (GRCm39) missense probably benign 0.00
R9459:Baalc UTSW 15 38,797,419 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACCTGGCCTTATATGCATGAG -3'
(R):5'- TGATAAACAGGAAACCGAGATGTTC -3'

Sequencing Primer
(F):5'- ATGCATGAGTCCTTGTAGGTCATTCC -3'
(R):5'- ATGTTCGTCACAGCGTTGG -3'
Posted On 2015-02-05