Incidental Mutation 'R6330:Mafk'
ID 510853
Institutional Source Beutler Lab
Gene Symbol Mafk
Ensembl Gene ENSMUSG00000018143
Gene Name v-maf musculoaponeurotic fibrosarcoma oncogene family, protein K (avian)
Synonyms Nfe2u, p18 NF-E2, NF-E2
MMRRC Submission 044484-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6330 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 139777291-139788409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139784948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 4 (N4S)
Ref Sequence ENSEMBL: ENSMUSP00000106460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018287] [ENSMUST00000110832] [ENSMUST00000110836]
AlphaFold Q61827
Predicted Effect probably benign
Transcript: ENSMUST00000018287
AA Change: N4S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000018287
Gene: ENSMUSG00000018143
AA Change: N4S

DomainStartEndE-ValueType
BRLZ 49 113 1.83e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110832
SMART Domains Protein: ENSMUSP00000106456
Gene: ENSMUSG00000036687

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
Pfam:Solute_trans_a 55 332 6.7e-101 PFAM
low complexity region 384 411 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110836
AA Change: N4S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106460
Gene: ENSMUSG00000018143
AA Change: N4S

DomainStartEndE-ValueType
BRLZ 49 113 1.83e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151577
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (46/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM, Nov 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, healthy and phenotypically normal with no detectable erythroid deficiencies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik T A 16: 88,423,939 (GRCm39) H184L probably benign Het
Ccar1 A G 10: 62,600,312 (GRCm39) Y540H probably damaging Het
Celf2 A G 2: 6,889,766 (GRCm39) F2L probably benign Het
Cfap57 T C 4: 118,426,593 (GRCm39) I1119V probably benign Het
Clec4f T C 6: 83,629,850 (GRCm39) Q236R probably damaging Het
Cstdc2 G T 2: 148,692,745 (GRCm39) A19D probably damaging Het
Cyp4a31 C T 4: 115,421,074 (GRCm39) P54L probably damaging Het
Dapk1 T C 13: 60,909,140 (GRCm39) V1251A probably benign Het
Dnah7b G A 1: 46,379,335 (GRCm39) V3690M probably damaging Het
Dock9 A T 14: 121,842,655 (GRCm39) M1K probably null Het
Emb T G 13: 117,385,666 (GRCm39) probably null Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
F7 C T 8: 13,085,140 (GRCm39) H389Y probably damaging Het
Fam111a T A 19: 12,564,266 (GRCm39) I49K probably damaging Het
Fam50b T G 13: 34,930,652 (GRCm39) S43A probably benign Het
Gbp7 A T 3: 142,252,259 (GRCm39) Y614F probably benign Het
Gli3 T A 13: 15,899,317 (GRCm39) D901E probably damaging Het
Hhatl C T 9: 121,617,291 (GRCm39) probably null Het
Idua T A 5: 108,829,574 (GRCm39) L432H probably benign Het
Ighv10-3 T A 12: 114,487,086 (GRCm39) T112S possibly damaging Het
Kcnj6 T A 16: 94,563,460 (GRCm39) D346V possibly damaging Het
Lrba A G 3: 86,255,664 (GRCm39) D1002G probably benign Het
Lrrd1 T A 5: 3,900,629 (GRCm39) S311R probably damaging Het
Mfsd14b T C 13: 65,243,500 (GRCm39) Y48C probably damaging Het
Mindy3 C T 2: 12,361,744 (GRCm39) A333T probably damaging Het
Mlxip G A 5: 123,533,015 (GRCm39) C8Y probably benign Het
Mthfd1l A T 10: 3,930,234 (GRCm39) M110L probably benign Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Or14j7 T C 17: 38,234,685 (GRCm39) V76A possibly damaging Het
Or1af1 A T 2: 37,110,136 (GRCm39) I212F probably benign Het
Orc2 C A 1: 58,539,493 (GRCm39) V49L probably benign Het
Pfkp C T 13: 6,635,286 (GRCm39) probably benign Het
Pkd1l3 T C 8: 110,373,541 (GRCm39) F1359S probably benign Het
Ralgps1 A T 2: 33,064,455 (GRCm39) I222N probably damaging Het
Rrad T G 8: 105,356,492 (GRCm39) E136A probably benign Het
Serpine3 T C 14: 62,902,430 (GRCm39) S14P probably benign Het
Slc2a12 A G 10: 22,540,894 (GRCm39) T250A probably benign Het
Slc4a5 T G 6: 83,203,356 (GRCm39) F85L probably benign Het
Stx18 T A 5: 38,284,261 (GRCm39) probably null Het
Tbcd T C 11: 121,387,912 (GRCm39) S348P probably benign Het
Usp9y T C Y: 1,340,123 (GRCm39) T1419A probably benign Homo
Vmn2r69 T C 7: 85,060,835 (GRCm39) S250G probably benign Het
Vmn2r86 A G 10: 130,282,396 (GRCm39) V740A probably benign Het
Vwa5b2 T A 16: 20,420,727 (GRCm39) I846N probably damaging Het
Zfp74 A T 7: 29,637,412 (GRCm39) Y33N probably damaging Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Other mutations in Mafk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Mafk APN 5 139,786,248 (GRCm39) missense probably damaging 0.98
R1587:Mafk UTSW 5 139,785,900 (GRCm39) missense probably damaging 1.00
R3435:Mafk UTSW 5 139,786,062 (GRCm39) nonsense probably null
R4694:Mafk UTSW 5 139,786,248 (GRCm39) missense probably damaging 0.98
R7089:Mafk UTSW 5 139,785,876 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTGCTCCAATGTGCTGAAG -3'
(R):5'- ATTCCTGAGGACAAAGCTGAC -3'

Sequencing Primer
(F):5'- GGGGTGTCACTTAAGACCATC -3'
(R):5'- AAGCTGACCTCATTTTCTAGGGCAG -3'
Posted On 2018-04-02