Incidental Mutation 'IGL02077:Mafb'
ID186014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mafb
Ensembl Gene ENSMUSG00000074622
Gene Namev-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian)
SynonymsKrml1, Krml, Kreisler
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.532) question?
Stock #IGL02077
Quality Score
Status
Chromosome2
Chromosomal Location160363703-160367065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 160365767 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 304 (S304P)
Ref Sequence ENSEMBL: ENSMUSP00000096728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099126]
PDB Structure Crystal structure of the bZIP heterodimeric complex MafB:cFos bound to DNA [X-RAY DIFFRACTION]
Crystal structure of the homodimeric MafB in complex with the T-MARE binding site [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE BZIP HOMODIMERIC MAFB IN COMPLEX WITH THE C- MARE BINDING SITE [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000099126
AA Change: S304P

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096728
Gene: ENSMUSG00000074622
AA Change: S304P

DomainStartEndE-ValueType
low complexity region 54 78 N/A INTRINSIC
Pfam:Maf_N 80 113 2.1e-24 PFAM
low complexity region 131 143 N/A INTRINSIC
low complexity region 157 182 N/A INTRINSIC
low complexity region 187 203 N/A INTRINSIC
BRLZ 234 300 2.73e-7 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant homozygotes exhibit segmentation defects in the caudal hindbrain, loss of facial motor neurons, impaired inner ear development, arrested maturation of kidney podocytes, reduced fertility, and, in some cases, lethality at birth from apnea. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap11a G T 2: 113,837,471 T395K possibly damaging Het
Dopey2 T C 16: 93,780,760 S58P probably damaging Het
F5 T A 1: 164,198,866 V1669E probably damaging Het
Fndc7 T A 3: 108,883,468 T81S probably benign Het
Hnf4a G T 2: 163,562,607 probably null Het
Il27 C T 7: 126,594,879 probably null Het
Lhcgr G A 17: 88,750,130 T311I probably benign Het
Mfrp C T 9: 44,105,220 T404M probably damaging Het
Ntpcr T A 8: 125,737,368 Y77* probably null Het
Otof A G 5: 30,399,235 S301P probably damaging Het
Prpf6 G A 2: 181,640,664 G533R probably damaging Het
Prpf8 T A 11: 75,495,809 H1041Q probably damaging Het
Pyurf T C 6: 57,689,835 I81V probably benign Het
Rsl1d1 A G 16: 11,194,456 probably benign Het
Sema6a A T 18: 47,283,398 D387E possibly damaging Het
Serpinb3a T G 1: 107,046,381 T267P probably damaging Het
Tgm7 A T 2: 121,103,835 M192K probably damaging Het
Thbs1 G T 2: 118,113,110 V70L probably benign Het
Thsd7b T A 1: 129,816,682 I769N probably damaging Het
Tlr9 A G 9: 106,225,505 Y665C possibly damaging Het
Ttn T C 2: 76,770,162 D18928G probably damaging Het
Uggt1 A G 1: 36,176,794 S131P probably damaging Het
Unc80 A G 1: 66,525,716 N854S possibly damaging Het
Vps13b A G 15: 35,910,613 T3508A possibly damaging Het
Wdr43 G A 17: 71,640,291 A381T probably benign Het
Zfyve26 A T 12: 79,276,395 M859K possibly damaging Het
Other mutations in Mafb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01827:Mafb APN 2 160366478 missense probably damaging 1.00
R2240:Mafb UTSW 2 160366027 missense probably damaging 1.00
R2510:Mafb UTSW 2 160366576 missense probably damaging 1.00
R5784:Mafb UTSW 2 160366541 missense probably damaging 0.99
R6341:Mafb UTSW 2 160366451 missense probably damaging 0.99
R6885:Mafb UTSW 2 160366019 missense possibly damaging 0.81
R7555:Mafb UTSW 2 160365829 missense probably damaging 1.00
R7658:Mafb UTSW 2 160366435 missense possibly damaging 0.68
R8146:Mafb UTSW 2 160366378 missense probably damaging 1.00
R8356:Mafb UTSW 2 160366205 missense probably benign 0.33
Z1177:Mafb UTSW 2 160366505 missense possibly damaging 0.66
Posted On2014-05-07