Incidental Mutation 'IGL02106:Bmyc'
ID 279988
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmyc
Ensembl Gene ENSMUSG00000049086
Gene Name brain expressed myelocytomatosis oncogene
Synonyms 2900002K07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02106
Quality Score
Status
Chromosome 2
Chromosomal Location 25596891-25597733 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25597082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 49 (K49E)
Ref Sequence ENSEMBL: ENSMUSP00000097885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061483] [ENSMUST00000077667]
AlphaFold Q6P8Z1
Predicted Effect probably damaging
Transcript: ENSMUST00000061483
AA Change: K49E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097885
Gene: ENSMUSG00000049086
AA Change: K49E

DomainStartEndE-ValueType
Pfam:Myc_N 1 169 2.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077667
SMART Domains Protein: ENSMUSP00000076851
Gene: ENSMUSG00000062061

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Pfam:Lipocalin 31 170 2.1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151069
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial lethality, reduced body weight in male mice and abnormal male reproductive system morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l A G 9: 44,420,496 (GRCm39) N1264D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Ceacam2 A G 7: 25,230,166 (GRCm39) S147P probably benign Het
Cep152 G T 2: 125,444,856 (GRCm39) probably null Het
Cnbd1 G T 4: 18,894,993 (GRCm39) P250T possibly damaging Het
Col6a4 A G 9: 105,940,304 (GRCm39) C1209R possibly damaging Het
Coro1c T C 5: 113,990,334 (GRCm39) T116A probably benign Het
Ddx46 A G 13: 55,825,416 (GRCm39) probably benign Het
Dnaaf5 T C 5: 139,137,268 (GRCm39) I207T probably damaging Het
Erap1 A G 13: 74,794,758 (GRCm39) D139G probably benign Het
Fbxw22 A T 9: 109,231,087 (GRCm39) I121N possibly damaging Het
Fcmr T C 1: 130,802,872 (GRCm39) S162P probably benign Het
Gadl1 A G 9: 115,766,225 (GRCm39) probably benign Het
Gli2 T A 1: 118,764,465 (GRCm39) S1229C probably benign Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gne T C 4: 44,037,306 (GRCm39) N692D probably damaging Het
Knl1 A G 2: 118,902,489 (GRCm39) T1397A possibly damaging Het
Lama3 C A 18: 12,601,371 (GRCm39) A1016E probably damaging Het
Lhfpl2 A G 13: 94,328,419 (GRCm39) D160G probably benign Het
Lmtk2 T A 5: 144,112,769 (GRCm39) V1163E probably benign Het
Lrrtm2 G T 18: 35,345,868 (GRCm39) S478* probably null Het
Nfatc2ip T C 7: 125,989,736 (GRCm39) probably null Het
Nlrp12 A G 7: 3,282,574 (GRCm39) I775T probably benign Het
Npr1 A G 3: 90,372,165 (GRCm39) F216L probably benign Het
Or4m1 A T 14: 50,557,617 (GRCm39) L225H probably damaging Het
Or5ac24 T A 16: 59,165,387 (GRCm39) N226Y probably benign Het
Or5b99 G T 19: 12,976,929 (GRCm39) S193I possibly damaging Het
Pkd1l1 C A 11: 8,783,800 (GRCm39) G2052C probably damaging Het
Ppp1r16b A G 2: 158,588,451 (GRCm39) N112S possibly damaging Het
Prr11 A G 11: 86,994,141 (GRCm39) probably benign Het
Scap A G 9: 110,210,724 (GRCm39) probably benign Het
Sirt1 C T 10: 63,171,608 (GRCm39) R191Q probably damaging Het
Slc38a6 A C 12: 73,397,320 (GRCm39) S321R possibly damaging Het
Sp140 T C 1: 85,570,940 (GRCm39) V460A probably benign Het
Spdye4c A T 2: 128,434,586 (GRCm39) K54N possibly damaging Het
Spta1 T A 1: 174,030,860 (GRCm39) N947K probably benign Het
Srgap1 A G 10: 121,621,598 (GRCm39) V965A possibly damaging Het
Tmem209 A C 6: 30,508,659 (GRCm39) probably null Het
Trim37 A T 11: 87,092,230 (GRCm39) K123* probably null Het
Trio T C 15: 27,744,244 (GRCm39) T2563A possibly damaging Het
Utrn A T 10: 12,289,717 (GRCm39) S734T possibly damaging Het
Vars2 A G 17: 35,975,513 (GRCm39) probably benign Het
Xrn1 G A 9: 95,859,858 (GRCm39) E417K probably benign Het
Yeats2 T A 16: 20,011,970 (GRCm39) V515E possibly damaging Het
Other mutations in Bmyc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1423:Bmyc UTSW 2 25,597,236 (GRCm39) missense probably damaging 1.00
R1581:Bmyc UTSW 2 25,597,346 (GRCm39) missense probably damaging 1.00
R8154:Bmyc UTSW 2 25,597,346 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16