Incidental Mutation 'R4333:Mybl1'
ID 323653
Institutional Source Beutler Lab
Gene Symbol Mybl1
Ensembl Gene ENSMUSG00000025912
Gene Name myeloblastosis oncogene-like 1
Synonyms G1-419-6, A-myb, repro9
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # R4333 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 9737640-9770434 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9742523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 621 (K621E)
Ref Sequence ENSEMBL: ENSMUSP00000111128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088658] [ENSMUST00000115468]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000088658
AA Change: K621E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086034
Gene: ENSMUSG00000025912
AA Change: K621E

DomainStartEndE-ValueType
SANT 34 83 1.08e-18 SMART
SANT 86 135 1.26e-19 SMART
SANT 138 186 1.75e-18 SMART
Pfam:LMSTEN 240 285 1.2e-29 PFAM
Pfam:Cmyb_C 485 648 6.9e-82 PFAM
low complexity region 734 749 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115468
AA Change: K621E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111128
Gene: ENSMUSG00000025912
AA Change: K621E

DomainStartEndE-ValueType
SANT 34 83 1.08e-18 SMART
SANT 86 135 1.26e-19 SMART
SANT 138 186 1.75e-18 SMART
Pfam:LMSTEN 239 285 1.9e-30 PFAM
Pfam:Cmyb_C 485 651 4.1e-74 PFAM
low complexity region 674 689 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160022
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice of both sexes show growth retardation after birth and an impairment of serum antibody response. Male mutant mice are sterile due to a meiotic defect. While female mutant mice are fertile, breast development is impaired after pregnancy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb C T 10: 10,318,246 (GRCm39) V193I possibly damaging Het
Cadps C T 14: 12,467,031 (GRCm38) R967H probably damaging Het
Cwh43 A G 5: 73,598,722 (GRCm39) D647G probably damaging Het
Dab2ip T A 2: 35,551,632 (GRCm39) *164R probably null Het
Ddx18 A T 1: 121,492,331 (GRCm39) D125E probably benign Het
Fbxw7 T C 3: 84,879,802 (GRCm39) C375R probably damaging Het
Iqca1l A G 5: 24,749,368 (GRCm39) L710P probably damaging Het
Khnyn A G 14: 56,131,499 (GRCm39) D536G probably damaging Het
Lamp3 T C 16: 19,492,186 (GRCm39) I353V probably benign Het
Med13 A G 11: 86,179,009 (GRCm39) F1429S probably benign Het
Myo19 G A 11: 84,799,114 (GRCm39) A816T probably benign Het
Or10d1c A G 9: 38,893,884 (GRCm39) I152T possibly damaging Het
Or51h7 A T 7: 102,591,176 (GRCm39) L203I possibly damaging Het
Rnf2 T C 1: 151,348,827 (GRCm39) T98A possibly damaging Het
Samm50 A G 15: 84,087,031 (GRCm39) K280R probably benign Het
Satb2 T C 1: 56,884,745 (GRCm39) N511S probably damaging Het
Tbc1d19 A G 5: 54,029,619 (GRCm39) T327A possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn2r7 T C 3: 64,598,199 (GRCm39) N786S probably damaging Het
Other mutations in Mybl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Mybl1 APN 1 9,741,904 (GRCm39) missense probably damaging 1.00
IGL01431:Mybl1 APN 1 9,742,872 (GRCm39) missense probably damaging 0.97
IGL01733:Mybl1 APN 1 9,755,935 (GRCm39) missense possibly damaging 0.94
IGL01903:Mybl1 APN 1 9,741,801 (GRCm39) splice site probably null
IGL02527:Mybl1 APN 1 9,760,373 (GRCm39) missense probably damaging 0.99
IGL02729:Mybl1 APN 1 9,742,795 (GRCm39) missense probably benign 0.22
IGL02810:Mybl1 APN 1 9,748,613 (GRCm39) missense probably benign
IGL02810:Mybl1 APN 1 9,743,340 (GRCm39) missense probably damaging 1.00
IGL03369:Mybl1 APN 1 9,742,780 (GRCm39) missense probably damaging 0.99
R0696:Mybl1 UTSW 1 9,743,373 (GRCm39) missense probably damaging 1.00
R1453:Mybl1 UTSW 1 9,741,901 (GRCm39) missense probably benign 0.27
R1476:Mybl1 UTSW 1 9,742,886 (GRCm39) splice site probably null
R1567:Mybl1 UTSW 1 9,755,976 (GRCm39) missense probably damaging 1.00
R3110:Mybl1 UTSW 1 9,752,095 (GRCm39) missense probably damaging 1.00
R3112:Mybl1 UTSW 1 9,752,095 (GRCm39) missense probably damaging 1.00
R3438:Mybl1 UTSW 1 9,757,870 (GRCm39) missense probably damaging 1.00
R3801:Mybl1 UTSW 1 9,743,439 (GRCm39) missense probably damaging 1.00
R4646:Mybl1 UTSW 1 9,742,511 (GRCm39) missense probably damaging 1.00
R4705:Mybl1 UTSW 1 9,760,340 (GRCm39) missense probably damaging 0.99
R5873:Mybl1 UTSW 1 9,755,890 (GRCm39) missense possibly damaging 0.75
R6326:Mybl1 UTSW 1 9,748,732 (GRCm39) critical splice acceptor site probably null
R6444:Mybl1 UTSW 1 9,755,917 (GRCm39) missense possibly damaging 0.93
R6801:Mybl1 UTSW 1 9,753,353 (GRCm39) missense probably benign 0.42
R7168:Mybl1 UTSW 1 9,748,513 (GRCm39) missense probably damaging 1.00
R8322:Mybl1 UTSW 1 9,746,506 (GRCm39) missense probably damaging 1.00
R9369:Mybl1 UTSW 1 9,742,829 (GRCm39) missense probably damaging 1.00
R9459:Mybl1 UTSW 1 9,746,484 (GRCm39) missense possibly damaging 0.86
Z1176:Mybl1 UTSW 1 9,755,994 (GRCm39) missense probably damaging 0.99
Z1177:Mybl1 UTSW 1 9,746,265 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTCTCTGAACTAGGCAAAATAACC -3'
(R):5'- TGTAATTTTGGCTGCCCTCAAAC -3'

Sequencing Primer
(F):5'- TCTCTTTTAAATTATCTGGCCAAGC -3'
(R):5'- GGCTGCCCTCAAACTTCCAAAC -3'
Posted On 2015-06-24