Incidental Mutation 'R6341:Mafb'
ID 514371
Institutional Source Beutler Lab
Gene Symbol Mafb
Ensembl Gene ENSMUSG00000074622
Gene Name MAF bZIP transcription factor B
Synonyms Krml, Kreisler, Krml1
MMRRC Submission 044495-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.766) question?
Stock # R6341 (G1)
Quality Score 144.008
Status Not validated
Chromosome 2
Chromosomal Location 160205623-160208985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 160208371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 76 (T76A)
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: T76A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096728
Gene: ENSMUSG00000074622
AA Change: T76A

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,924,364 (GRCm39) D658G possibly damaging Het
Amz2 A G 11: 109,319,653 (GRCm39) H13R probably benign Het
Ankrd27 G T 7: 35,326,828 (GRCm39) probably null Het
Atp8a1 T C 5: 67,840,270 (GRCm39) T704A possibly damaging Het
Cabin1 A T 10: 75,494,573 (GRCm39) M1602K probably damaging Het
Ccdc74a T C 16: 17,465,978 (GRCm39) S105P probably damaging Het
Cdh26 T A 2: 178,113,366 (GRCm39) probably null Het
Cxcl10 T C 5: 92,496,072 (GRCm39) I22V probably benign Het
Cyp2c68 A C 19: 39,700,933 (GRCm39) V295G possibly damaging Het
Ddx10 A T 9: 53,115,551 (GRCm39) D594E probably benign Het
Ddx5 T C 11: 106,676,368 (GRCm39) probably null Het
Duox1 T C 2: 122,168,202 (GRCm39) I1109T probably damaging Het
Dusp15 T C 2: 152,788,204 (GRCm39) probably null Het
Ecel1 A G 1: 87,078,193 (GRCm39) probably null Het
Efcab6 T G 15: 83,820,139 (GRCm39) Q714P possibly damaging Het
Erc1 A G 6: 119,754,959 (GRCm39) L464P possibly damaging Het
Fam234a T A 17: 26,432,667 (GRCm39) H494L probably damaging Het
Gfpt1 T C 6: 87,065,127 (GRCm39) V694A probably damaging Het
Gli2 T C 1: 118,763,954 (GRCm39) D1399G probably damaging Het
Gm10110 T C 14: 90,134,144 (GRCm39) noncoding transcript Het
Hdac3 A G 18: 38,077,217 (GRCm39) L219P probably damaging Het
Hlcs A G 16: 94,032,022 (GRCm39) F52S probably damaging Het
Ints7 C A 1: 191,345,239 (GRCm39) T643K probably damaging Het
Ireb2 A G 9: 54,816,064 (GRCm39) I878M probably damaging Het
Itga3 A T 11: 94,946,677 (GRCm39) probably null Het
Lrfn5 T A 12: 61,890,368 (GRCm39) Y552* probably null Het
Man2b1 A T 8: 85,822,028 (GRCm39) S748C probably damaging Het
Mmp15 G T 8: 96,092,091 (GRCm39) probably null Het
Mmp17 A T 5: 129,679,019 (GRCm39) R335W probably damaging Het
Muc5ac A T 7: 141,355,229 (GRCm39) D1005V probably damaging Het
Myh3 T C 11: 66,973,822 (GRCm39) F165S probably benign Het
Nacc1 T C 8: 85,401,420 (GRCm39) D419G probably benign Het
Neb G A 2: 52,099,486 (GRCm39) S4545L probably damaging Het
Niban3 C T 8: 72,052,721 (GRCm39) P65L probably damaging Het
Npas2 T C 1: 39,339,768 (GRCm39) I106T probably damaging Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or5b12 T C 19: 12,896,843 (GRCm39) T277A probably benign Het
Pde4dip T A 3: 97,602,227 (GRCm39) Q2283L probably benign Het
Phax C T 18: 56,706,173 (GRCm39) T21M possibly damaging Het
Pitpnm1 A T 19: 4,152,829 (GRCm39) K79* probably null Het
Pkd1 T A 17: 24,799,201 (GRCm39) F2807I probably damaging Het
Plekha4 C T 7: 45,190,572 (GRCm39) R427C probably damaging Het
Ptprj A T 2: 90,288,693 (GRCm39) F757L probably benign Het
Rad1 A G 15: 10,492,907 (GRCm39) D208G probably damaging Het
Rangrf T A 11: 68,863,538 (GRCm39) N156I probably benign Het
Rasl11b T C 5: 74,359,037 (GRCm39) S181P probably damaging Het
Rigi T A 4: 40,222,199 (GRCm39) probably null Het
Rlf G A 4: 121,006,557 (GRCm39) Q808* probably null Het
Rogdi G T 16: 4,831,241 (GRCm39) probably null Het
Sec24a A T 11: 51,608,603 (GRCm39) V573D probably damaging Het
Sorbs2 A G 8: 46,223,615 (GRCm39) T200A probably damaging Het
Srgap2 C T 1: 131,219,367 (GRCm39) R259H probably benign Het
Ssc5d T A 7: 4,939,664 (GRCm39) V700E probably benign Het
Stt3a A T 9: 36,662,592 (GRCm39) H222Q probably damaging Het
Tcaf3 A T 6: 42,574,193 (GRCm39) D6E possibly damaging Het
Tdrd12 C T 7: 35,189,473 (GRCm39) R421H probably damaging Het
Top3b T C 16: 16,696,935 (GRCm39) M62T probably damaging Het
Trhr T G 15: 44,092,694 (GRCm39) Y310* probably null Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Usp34 A G 11: 23,331,353 (GRCm39) T1085A probably damaging Het
Vmn1r179 T A 7: 23,628,491 (GRCm39) H227Q possibly damaging Het
Vmn1r31 A T 6: 58,448,995 (GRCm39) M290K probably benign Het
Wdr75 T C 1: 45,841,291 (GRCm39) probably null Het
Wnk1 A T 6: 119,925,546 (GRCm39) V1306D probably damaging Het
Xkr4 T C 1: 3,741,001 (GRCm39) T191A probably benign Het
Zc3h15 A G 2: 83,491,567 (GRCm39) E265G probably benign Het
Zcchc9 A G 13: 91,948,816 (GRCm39) F41S possibly damaging Het
Zfp251 T C 15: 76,738,337 (GRCm39) H247R probably damaging Het
Zfp433 A G 10: 81,555,957 (GRCm39) E152G probably damaging Het
Zfp770 A T 2: 114,027,240 (GRCm39) S276R probably benign Het
Other mutations in Mafb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01827:Mafb APN 2 160,208,398 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATCGTGAGTCACACCTGCTC -3'
(R):5'- ACGTCAACGACTTCGACCTTC -3'

Sequencing Primer
(F):5'- ACACCTGCTCCTGGGTAC -3'
(R):5'- GACCTTCTCAAGTTCGACGTGAAG -3'
Posted On 2018-04-27