Incidental Mutation 'R5980:Mycbp'
ID 481367
Institutional Source Beutler Lab
Gene Symbol Mycbp
Ensembl Gene ENSMUSG00000028647
Gene Name MYC binding protein
Synonyms 5730488M09Rik, Amy-1
MMRRC Submission 044162-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # R5980 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 123798806-123806043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123804889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 91 (V91I)
Ref Sequence ENSEMBL: ENSMUSP00000030400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030400] [ENSMUST00000106202]
AlphaFold Q9EQS3
Predicted Effect probably benign
Transcript: ENSMUST00000030400
AA Change: V91I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000030400
Gene: ENSMUSG00000028647
AA Change: V91I

DomainStartEndE-ValueType
PDB:2YY0|D 42 94 2e-28 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000106202
SMART Domains Protein: ENSMUSP00000101808
Gene: ENSMUSG00000028647

DomainStartEndE-ValueType
PDB:2YY0|D 42 82 4e-20 PDB
low complexity region 83 105 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153814
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 96% (50/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to the N-terminus of the oncogenic protein C-MYC, enhancing the ability of C-MYC to activate E box-dependent transcription. The encoded protein is normally found in the cytoplasm, but it translocates to the nucleus during S phase of the cell cycle and associates with C-MYC. This protein may be involved in spermatogenesis. This gene can be silenced by microRNA-22. Two transcript variants, one protein-coding and the other probably not protein-coding, have been found for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,544,018 (GRCm39) N508D possibly damaging Het
Ago1 C T 4: 126,354,362 (GRCm39) probably benign Het
Apol6 A T 15: 76,935,219 (GRCm39) T163S possibly damaging Het
Arhgap27 T C 11: 103,247,095 (GRCm39) T33A probably benign Het
Atg7 C A 6: 114,657,197 (GRCm39) F132L possibly damaging Het
Cep104 C A 4: 154,072,930 (GRCm39) A396E probably benign Het
Cers4 T A 8: 4,568,269 (GRCm39) C107* probably null Het
Cntn6 T C 6: 104,825,093 (GRCm39) S878P probably damaging Het
Dnah6 T C 6: 73,158,705 (GRCm39) K633E probably benign Het
Dst T A 1: 34,221,972 (GRCm39) I2592K probably benign Het
Ep400 G A 5: 110,881,595 (GRCm39) probably benign Het
Fbn1 A G 2: 125,157,324 (GRCm39) C2320R probably damaging Het
Gpi1 A G 7: 33,928,351 (GRCm39) probably null Het
Gse1 T G 8: 120,956,376 (GRCm39) probably benign Het
Hid1 G A 11: 115,241,774 (GRCm39) T612I possibly damaging Het
Ighmbp2 G T 19: 3,315,295 (GRCm39) H708Q probably benign Het
Igkv10-95 T C 6: 68,657,573 (GRCm39) S10P probably damaging Het
Igkv14-100 T C 6: 68,496,009 (GRCm39) V5A probably benign Het
Irgq G A 7: 24,232,770 (GRCm39) G204S probably damaging Het
Kansl1 T C 11: 104,234,463 (GRCm39) K681R possibly damaging Het
Kcnv1 C A 15: 44,972,810 (GRCm39) V358L probably damaging Het
Lrp2 A T 2: 69,365,349 (GRCm39) S275T probably damaging Het
Lysmd1 A T 3: 95,045,219 (GRCm39) D155V probably damaging Het
Magel2 A T 7: 62,030,344 (GRCm39) I1083F unknown Het
Mta3 T A 17: 84,015,834 (GRCm39) V12D probably damaging Het
Mtmr4 T C 11: 87,494,977 (GRCm39) I423T probably damaging Het
Mup11 A G 4: 60,616,887 (GRCm39) Y16H possibly damaging Het
Ngly1 A C 14: 16,270,509 (GRCm38) Q72P possibly damaging Het
Nol4 T A 18: 23,085,258 (GRCm39) Q52L probably damaging Het
Nrcam T C 12: 44,618,416 (GRCm39) V808A probably damaging Het
Or10p22 A G 10: 128,826,309 (GRCm39) H176R probably damaging Het
Or5ak23 A T 2: 85,244,509 (GRCm39) F238Y probably damaging Het
Or8k24 A T 2: 86,216,141 (GRCm39) L207* probably null Het
Pate10 A C 9: 35,652,911 (GRCm39) D51A probably damaging Het
Pik3c2b C A 1: 133,016,046 (GRCm39) D869E probably benign Het
Pom121l2 T C 13: 22,167,546 (GRCm39) S606P probably damaging Het
Prdm15 G A 16: 97,613,770 (GRCm39) R517* probably null Het
Ralgapa1 T A 12: 55,817,401 (GRCm39) probably null Het
Saraf T A 8: 34,632,541 (GRCm39) F207I probably benign Het
Sema6d A G 2: 124,506,628 (GRCm39) D874G probably damaging Het
Sfrp5 A T 19: 42,190,411 (GRCm39) L14M unknown Het
Sidt1 A T 16: 44,083,675 (GRCm39) C485* probably null Het
Sptbn4 A G 7: 27,071,596 (GRCm39) Y1618H probably damaging Het
Syt14 T C 1: 192,662,716 (GRCm39) Q127R possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Ticrr G A 7: 79,310,703 (GRCm39) A206T probably damaging Het
Tmem132d T A 5: 127,861,662 (GRCm39) I820F probably benign Het
Trafd1 A G 5: 121,511,520 (GRCm39) Y433H probably damaging Het
Trim68 A G 7: 102,328,038 (GRCm39) V305A probably damaging Het
Vmn2r58 T A 7: 41,514,480 (GRCm39) Y163F possibly damaging Het
Vmn2r83 T A 10: 79,314,626 (GRCm39) H291Q probably benign Het
Vmn2r95 A G 17: 18,661,624 (GRCm39) I457V probably benign Het
Other mutations in Mycbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7556:Mycbp UTSW 4 123,799,060 (GRCm39) missense probably damaging 1.00
R7622:Mycbp UTSW 4 123,799,094 (GRCm39) missense probably damaging 1.00
R8805:Mycbp UTSW 4 123,803,880 (GRCm39) missense unknown
R9482:Mycbp UTSW 4 123,803,880 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTGAGGCTAAATTTAGTTCCCCAG -3'
(R):5'- TCTCCTGCTTTAAGACCCAAAG -3'

Sequencing Primer
(F):5'- GCTAAATTTAGTTCCCCAGTATTTGC -3'
(R):5'- CATTAAAGTGTGATGAGTGG -3'
Posted On 2017-06-26