Incidental Mutation 'R1587:Mafk'
ID 177561
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 039624-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1587 (G1)
Quality Score 199
Status Not validated
Chromosome 5
Chromosomal Location 139777291-139788409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139785900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 33 (S33P)
Ref Sequence ENSEMBL: ENSMUSP00000106460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018287] [ENSMUST00000044002] [ENSMUST00000110832] [ENSMUST00000110836]
AlphaFold Q61827
Predicted Effect probably damaging
Transcript: ENSMUST00000018287
AA Change: S33P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018287
Gene: ENSMUSG00000018143
AA Change: S33P

DomainStartEndE-ValueType
BRLZ 49 113 1.83e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000044002
SMART Domains Protein: ENSMUSP00000035399
Gene: ENSMUSG00000036687

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
low complexity region 46 54 N/A INTRINSIC
Pfam:Solute_trans_a 82 356 2.2e-93 PFAM
low complexity region 408 435 N/A INTRINSIC
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 damaging
Transcript: ENSMUST00000110836
AA Change: S33P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106460
Gene: ENSMUSG00000018143
AA Change: S33P

DomainStartEndE-ValueType
BRLZ 49 113 1.83e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151577
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,473,585 (GRCm39) S111T probably benign Het
Abhd2 A T 7: 79,003,758 (GRCm39) H279L probably benign Het
Ablim1 C T 19: 57,071,979 (GRCm39) M1I probably null Het
Agrn T C 4: 156,263,897 (GRCm39) Q122R probably damaging Het
Arfgef1 A T 1: 10,230,184 (GRCm39) F1218I probably damaging Het
Bud13 C T 9: 46,201,513 (GRCm39) P395S probably damaging Het
Ccdc110 G A 8: 46,394,783 (GRCm39) V225M probably benign Het
Ccdc30 A T 4: 119,210,373 (GRCm39) S248T probably damaging Het
Cdh20 C A 1: 110,027,757 (GRCm39) Q501K probably damaging Het
Cwc27 T C 13: 104,929,145 (GRCm39) D266G probably benign Het
Cyp2d40 T A 15: 82,645,334 (GRCm39) probably null Het
Cyp4a32 T G 4: 115,467,731 (GRCm39) N238K probably benign Het
Ddx11 T C 17: 66,456,251 (GRCm39) L770P probably damaging Het
Dgcr8 C T 16: 18,098,155 (GRCm39) G412E probably damaging Het
Disp2 C A 2: 118,622,064 (GRCm39) A932D probably damaging Het
Dlg4 T A 11: 69,922,572 (GRCm39) N291K possibly damaging Het
Dnajc7 A G 11: 100,492,556 (GRCm39) I39T probably damaging Het
Elp1 G A 4: 56,786,666 (GRCm39) Q426* probably null Het
Eno3 T C 11: 70,552,296 (GRCm39) V316A probably damaging Het
Ep400 G A 5: 110,874,768 (GRCm39) T944I probably benign Het
Ezh2 T G 6: 47,529,424 (GRCm39) probably null Het
F7 A T 8: 13,084,783 (GRCm39) I270F possibly damaging Het
Fancc A G 13: 63,488,246 (GRCm39) F245L probably benign Het
Fzd7 G A 1: 59,522,165 (GRCm39) C16Y possibly damaging Het
Gm29394 A G 15: 57,892,008 (GRCm39) *200Q probably null Het
Ints8 A G 4: 11,245,722 (GRCm39) probably null Het
Krt36 A T 11: 99,993,128 (GRCm39) I449N probably damaging Het
Ldlr A T 9: 21,649,209 (GRCm39) H328L probably damaging Het
Limk2 T C 11: 3,303,455 (GRCm39) N101S possibly damaging Het
Lrp4 A G 2: 91,306,650 (GRCm39) N321S probably benign Het
Mbtps1 T C 8: 120,244,958 (GRCm39) Y831C probably damaging Het
Mfge8 T A 7: 78,784,513 (GRCm39) I344F probably damaging Het
Myo5b T C 18: 74,867,061 (GRCm39) V1430A probably benign Het
Nbas G A 12: 13,608,686 (GRCm39) R2154H probably benign Het
Nlrp6 G A 7: 140,502,959 (GRCm39) R355H probably damaging Het
Noc4l T C 5: 110,800,889 (GRCm39) T76A probably benign Het
Nrp1 T A 8: 129,202,763 (GRCm39) C583S probably damaging Het
Or2w4 C T 13: 21,796,083 (GRCm39) D19N probably benign Het
Or5d35 T A 2: 87,855,477 (GRCm39) M137K probably damaging Het
Pgm5 T A 19: 24,793,113 (GRCm39) I318F probably damaging Het
Phf1 T A 17: 27,156,466 (GRCm39) V536D probably damaging Het
Prpf4b C A 13: 35,076,133 (GRCm39) A641D probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm47 A G 5: 66,182,334 (GRCm39) I433T probably benign Het
Resf1 G T 6: 149,228,018 (GRCm39) V355F probably damaging Het
S100a3 G A 3: 90,509,618 (GRCm39) E88K probably benign Het
Sesn1 A G 10: 41,687,108 (GRCm39) I31V probably benign Het
Son T A 16: 91,456,606 (GRCm39) S1784R probably damaging Het
Srbd1 G T 17: 86,292,865 (GRCm39) D901E probably damaging Het
St8sia6 C T 2: 13,677,416 (GRCm39) D134N possibly damaging Het
Synpo2 T A 3: 122,908,047 (GRCm39) D423V probably damaging Het
Vmn2r108 A G 17: 20,692,383 (GRCm39) S158P probably damaging Het
Vmn2r109 A T 17: 20,761,002 (GRCm39) V785E probably damaging Het
Zfp143 A G 7: 109,673,275 (GRCm39) D124G probably benign Het
Zfp251 A G 15: 76,754,484 (GRCm39) L54P probably damaging Het
Zfp324 G T 7: 12,704,570 (GRCm39) S253I possibly damaging Het
Zfp59 A G 7: 27,553,559 (GRCm39) E337G possibly damaging Het
Zfp663 G T 2: 165,195,437 (GRCm39) Q261K probably benign Het
Zhx3 T C 2: 160,623,613 (GRCm39) probably null Het
Other mutations in Mafk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Mafk APN 5 139,786,248 (GRCm39) missense probably damaging 0.98
R3435:Mafk UTSW 5 139,786,062 (GRCm39) nonsense probably null
R4694:Mafk UTSW 5 139,786,248 (GRCm39) missense probably damaging 0.98
R6330:Mafk UTSW 5 139,784,948 (GRCm39) missense probably benign 0.02
R7089:Mafk UTSW 5 139,785,876 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGACCAAGACCTTCCTGAGGGAATG -3'
(R):5'- TCTGTAGGGCCTCATACTTGGAGC -3'

Sequencing Primer
(F):5'- CTCCCTGTTCAAAGAGGTGTCATAG -3'
(R):5'- TCATACTTGGAGCGCAGGG -3'
Posted On 2014-04-24