Incidental Mutation 'R4437:Bcl2a1d'
ID 329581
Institutional Source Beutler Lab
Gene Symbol Bcl2a1d
Ensembl Gene ENSMUSG00000099974
Gene Name B cell leukemia/lymphoma 2 related protein A1d
Synonyms A1-d
MMRRC Submission 041150-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4437 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 88605341-88613903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88613753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 7 (M7K)
Ref Sequence ENSEMBL: ENSMUSP00000096087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098486]
AlphaFold O55179
Predicted Effect probably benign
Transcript: ENSMUST00000098486
AA Change: M7K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000096087
Gene: ENSMUSG00000099974
AA Change: M7K

DomainStartEndE-ValueType
BCL 37 140 3.98e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194289
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A C 12: 113,454,281 (GRCm39) Q366P probably damaging Het
Arhgef16 A G 4: 154,364,153 (GRCm39) probably null Het
Bcar1 G A 8: 112,442,021 (GRCm39) T273M probably damaging Het
Bptf A G 11: 106,965,300 (GRCm39) V1235A possibly damaging Het
Camsap1 G A 2: 25,828,658 (GRCm39) T1022I possibly damaging Het
Cdc37l1 T C 19: 28,985,021 (GRCm39) F224L probably damaging Het
Col4a1 G T 8: 11,256,387 (GRCm39) C1493* probably null Het
Cul9 A G 17: 46,813,085 (GRCm39) L2378P probably damaging Het
D630003M21Rik G A 2: 158,055,382 (GRCm39) P585L probably damaging Het
Fam169a A G 13: 97,263,248 (GRCm39) D567G probably damaging Het
Frem3 A G 8: 81,339,236 (GRCm39) I510V probably benign Het
Garin2 T A 12: 78,761,824 (GRCm39) F163I probably damaging Het
Gm2381 A T 7: 42,469,268 (GRCm39) H285Q probably damaging Het
Gm4884 A G 7: 40,692,514 (GRCm39) Q161R probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Igkv1-99 T G 6: 68,519,318 (GRCm39) S91A probably benign Het
Itga6 T C 2: 71,655,982 (GRCm39) L302P probably benign Het
Mdga2 T C 12: 66,519,972 (GRCm39) probably null Het
Myoc A G 1: 162,476,681 (GRCm39) M462V possibly damaging Het
Nkx2-4 T C 2: 146,926,179 (GRCm39) T228A possibly damaging Het
Npr1 T G 3: 90,363,593 (GRCm39) D810A probably damaging Het
Or4a68 T G 2: 89,269,698 (GRCm39) R308S possibly damaging Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Or51a24 T C 7: 103,734,128 (GRCm39) E53G possibly damaging Het
Pde4dip G A 3: 97,673,885 (GRCm39) L344F possibly damaging Het
Pfas A G 11: 68,879,243 (GRCm39) L1218P probably damaging Het
Rimoc1 T C 15: 4,021,318 (GRCm39) E79G probably damaging Het
Rln1 A T 19: 29,311,962 (GRCm39) F12Y possibly damaging Het
Robo2 T C 16: 73,770,132 (GRCm39) T531A possibly damaging Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Tsc2 G A 17: 24,818,687 (GRCm39) P1450L probably benign Het
Vps33a A T 5: 123,669,947 (GRCm39) I519N probably benign Het
Other mutations in Bcl2a1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2027:Bcl2a1d UTSW 9 88,613,438 (GRCm39) missense possibly damaging 0.60
R2402:Bcl2a1d UTSW 9 88,613,549 (GRCm39) missense probably damaging 1.00
R4250:Bcl2a1d UTSW 9 88,613,706 (GRCm39) missense probably benign
R4352:Bcl2a1d UTSW 9 88,613,552 (GRCm39) missense probably damaging 1.00
R4436:Bcl2a1d UTSW 9 88,613,753 (GRCm39) missense probably benign 0.00
R4438:Bcl2a1d UTSW 9 88,613,753 (GRCm39) missense probably benign 0.00
R4871:Bcl2a1d UTSW 9 88,613,748 (GRCm39) missense probably damaging 1.00
R7137:Bcl2a1d UTSW 9 88,613,531 (GRCm39) missense probably damaging 1.00
R7201:Bcl2a1d UTSW 9 88,613,639 (GRCm39) missense probably damaging 1.00
R8478:Bcl2a1d UTSW 9 88,605,488 (GRCm39) makesense probably null
R9380:Bcl2a1d UTSW 9 88,613,935 (GRCm39) start gained probably benign
R9537:Bcl2a1d UTSW 9 88,613,526 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- TCTGGCGGTATCTATGGATTCC -3'
(R):5'- CAGAGTCTGAACTTTGGCTTTCAC -3'

Sequencing Primer
(F):5'- TGGATTCCACGTGAAAGTCATCC -3'
(R):5'- GAACTTTGGCTTTCACAGACCG -3'
Posted On 2015-07-21