Incidental Mutation 'IGL01827:Mafb'
ID 154693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mafb
Ensembl Gene ENSMUSG00000074622
Gene Name MAF bZIP transcription factor B
Synonyms Krml, Kreisler, Krml1
Accession Numbers
Essential gene? Probably essential (E-score: 0.766) question?
Stock # IGL01827
Quality Score
Status
Chromosome 2
Chromosomal Location 160205623-160208985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 160208398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 67 (V67M)
Ref Sequence ENSEMBL: ENSMUSP00000096728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099126]
AlphaFold P54841
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 damaging
Transcript: ENSMUST00000099126
AA Change: V67M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096728
Gene: ENSMUSG00000074622
AA Change: V67M

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A T 15: 83,112,135 (GRCm39) I216N possibly damaging Het
Catsperb A C 12: 101,557,799 (GRCm39) Y790S probably benign Het
Cfap161 T C 7: 83,442,648 (GRCm39) Q55R possibly damaging Het
Col6a3 T C 1: 90,730,041 (GRCm39) D1148G probably damaging Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Hrh3 T C 2: 179,745,739 (GRCm39) N69S possibly damaging Het
Lipn A T 19: 34,046,880 (GRCm39) I61F probably damaging Het
Lrwd1 C A 5: 136,160,372 (GRCm39) E321* probably null Het
Ltk C T 2: 119,583,219 (GRCm39) V343M probably damaging Het
Nip7 A T 8: 107,783,723 (GRCm39) probably null Het
Polrmt T C 10: 79,573,954 (GRCm39) T964A probably damaging Het
Pygm A G 19: 6,440,407 (GRCm39) T484A probably damaging Het
Snx9 G A 17: 5,937,287 (GRCm39) D10N probably benign Het
Tek A C 4: 94,627,882 (GRCm39) D2A probably benign Het
Ttn T C 2: 76,624,828 (GRCm39) D15250G probably damaging Het
Usp34 G A 11: 23,386,020 (GRCm39) R2149H probably damaging Het
Vmn2r74 T A 7: 85,606,800 (GRCm39) H182L probably benign Het
Zgrf1 T C 3: 127,409,930 (GRCm39) V1739A probably benign Het
Other mutations in Mafb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02077:Mafb APN 2 160,207,687 (GRCm39) missense probably benign 0.32
R2240:Mafb UTSW 2 160,207,947 (GRCm39) missense probably damaging 1.00
R2510:Mafb UTSW 2 160,208,496 (GRCm39) missense probably damaging 1.00
R5784:Mafb UTSW 2 160,208,461 (GRCm39) missense probably damaging 0.99
R6341:Mafb UTSW 2 160,208,371 (GRCm39) missense probably damaging 0.99
R6885:Mafb UTSW 2 160,207,939 (GRCm39) missense possibly damaging 0.81
R7555:Mafb UTSW 2 160,207,749 (GRCm39) missense probably damaging 1.00
R7658:Mafb UTSW 2 160,208,355 (GRCm39) missense possibly damaging 0.68
R8146:Mafb UTSW 2 160,208,298 (GRCm39) missense probably damaging 1.00
R8356:Mafb UTSW 2 160,208,125 (GRCm39) missense probably benign 0.33
Z1177:Mafb UTSW 2 160,208,425 (GRCm39) missense possibly damaging 0.66
Posted On 2014-02-04