Incidental Mutation 'IGL02527:Mybl1'
ID297148
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mybl1
Ensembl Gene ENSMUSG00000025912
Gene Namemyeloblastosis oncogene-like 1
SynonymsA-myb, G1-419-6, repro9
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.546) question?
Stock #IGL02527
Quality Score
Status
Chromosome1
Chromosomal Location9667415-9700209 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 9690148 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 75 (H75R)
Ref Sequence ENSEMBL: ENSMUSP00000086034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088658] [ENSMUST00000115468]
Predicted Effect probably damaging
Transcript: ENSMUST00000088658
AA Change: H75R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086034
Gene: ENSMUSG00000025912
AA Change: H75R

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 benign
Transcript: ENSMUST00000115468
AA Change: H75R

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000111128
Gene: ENSMUSG00000025912
AA Change: H75R

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 unknown
Transcript: ENSMUST00000188212
AA Change: H79R
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,661,433 V868A probably damaging Het
Adam25 T A 8: 40,753,748 I17K possibly damaging Het
Arap2 A T 5: 62,749,307 M123K probably benign Het
Asic3 A G 5: 24,416,277 M332V probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
BC017158 T A 7: 128,276,231 T317S possibly damaging Het
Cand1 A T 10: 119,206,807 M1126K probably damaging Het
Capn3 A G 2: 120,504,485 T818A probably damaging Het
Cda G A 4: 138,343,521 Q104* probably null Het
Cpeb1 T C 7: 81,359,887 D234G probably damaging Het
Cpq A G 15: 33,302,363 Y220C probably damaging Het
Diaph3 T C 14: 86,810,359 K1026R possibly damaging Het
Dpep1 T C 8: 123,198,748 F47L probably damaging Het
Dppa4 G T 16: 48,289,093 R66L possibly damaging Het
Elac1 C A 18: 73,747,233 E31* probably null Het
Fggy A G 4: 95,697,069 K62E probably damaging Het
Ficd T A 5: 113,736,966 M32K probably benign Het
Foxd4 A G 19: 24,899,814 S341P probably benign Het
Gm4788 T C 1: 139,753,045 N245S probably damaging Het
Gnb4 G T 3: 32,589,866 T181K probably benign Het
Grin2b T A 6: 135,923,391 Y164F probably damaging Het
Hmmr A G 11: 40,708,105 L564P probably damaging Het
Hsd17b4 G A 18: 50,160,164 V257I probably benign Het
Itga10 C A 3: 96,655,624 probably benign Het
Kcnk18 T C 19: 59,235,275 V284A probably damaging Het
Klf11 T A 12: 24,655,323 S259T probably benign Het
Kmt2d C T 15: 98,841,747 probably benign Het
Manea A G 4: 26,336,619 probably null Het
Neb G A 2: 52,263,947 T2384M probably damaging Het
Neb A G 2: 52,149,213 I6938T probably benign Het
Ntrk3 T C 7: 78,451,949 D412G probably benign Het
Olah T C 2: 3,342,942 E211G probably damaging Het
Olfr1123 T C 2: 87,418,837 L261S probably damaging Het
Paxbp1 A T 16: 91,037,273 N208K possibly damaging Het
Prrc1 T A 18: 57,389,347 M417K probably benign Het
Ptprq G A 10: 107,686,563 T543M probably benign Het
Rasal1 T C 5: 120,666,404 V447A probably damaging Het
Rbl1 T C 2: 157,194,048 E287G probably benign Het
Tec A G 5: 72,779,415 probably null Het
Tex26 A G 5: 149,456,942 D61G probably damaging Het
Tgfb1i1 G A 7: 128,252,562 probably benign Het
Tmem132c T C 5: 127,359,611 Y55H possibly damaging Het
Tmem63a T A 1: 180,952,974 probably null Het
Umod C T 7: 119,469,467 G452D probably damaging Het
Vcan G A 13: 89,690,657 T2256I possibly damaging Het
Vmn1r31 A T 6: 58,472,793 I29K probably benign Het
Vmn2r117 A G 17: 23,477,225 Y403H possibly damaging Het
Vmn2r124 A T 17: 18,066,502 probably null Het
Vmn2r65 T A 7: 84,946,516 K320M possibly damaging Het
Other mutations in Mybl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Mybl1 APN 1 9671679 missense probably damaging 1.00
IGL01431:Mybl1 APN 1 9672647 missense probably damaging 0.97
IGL01733:Mybl1 APN 1 9685710 missense possibly damaging 0.94
IGL01903:Mybl1 APN 1 9671576 splice site probably null
IGL02729:Mybl1 APN 1 9672570 missense probably benign 0.22
IGL02810:Mybl1 APN 1 9673115 missense probably damaging 1.00
IGL02810:Mybl1 APN 1 9678388 missense probably benign
IGL03369:Mybl1 APN 1 9672555 missense probably damaging 0.99
R0696:Mybl1 UTSW 1 9673148 missense probably damaging 1.00
R1453:Mybl1 UTSW 1 9671676 missense probably benign 0.27
R1476:Mybl1 UTSW 1 9672661 splice site probably null
R1567:Mybl1 UTSW 1 9685751 missense probably damaging 1.00
R3110:Mybl1 UTSW 1 9681870 missense probably damaging 1.00
R3112:Mybl1 UTSW 1 9681870 missense probably damaging 1.00
R3438:Mybl1 UTSW 1 9687645 missense probably damaging 1.00
R3801:Mybl1 UTSW 1 9673214 missense probably damaging 1.00
R4333:Mybl1 UTSW 1 9672298 missense probably damaging 1.00
R4646:Mybl1 UTSW 1 9672286 missense probably damaging 1.00
R4705:Mybl1 UTSW 1 9690115 missense probably damaging 0.99
R5873:Mybl1 UTSW 1 9685665 missense possibly damaging 0.75
R6326:Mybl1 UTSW 1 9678507 critical splice acceptor site probably null
R6444:Mybl1 UTSW 1 9685692 missense possibly damaging 0.93
R6801:Mybl1 UTSW 1 9683128 missense probably benign 0.42
R7168:Mybl1 UTSW 1 9678288 missense probably damaging 1.00
Posted On2015-04-16