Incidental Mutation 'R4694:Mafk'
ID 355550
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 041945-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4694 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 139777291-139788409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139786248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 149 (S149P)
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: S149P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000018287
Gene: ENSMUSG00000018143
AA Change: S149P

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: S149P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106460
Gene: ENSMUSG00000018143
AA Change: S149P

DomainStartEndE-ValueType
BRLZ 49 113 1.83e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151577
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,979,586 (GRCm39) F258Y probably damaging Het
Adamtsl4 C T 3: 95,587,055 (GRCm39) R765H probably damaging Het
Bicd1 T A 6: 149,311,051 (GRCm39) L42Q probably damaging Het
Cacna1e C T 1: 154,313,012 (GRCm39) probably null Het
Capn1 T A 19: 6,044,761 (GRCm39) K504* probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cep350 T C 1: 155,804,332 (GRCm39) K917R probably damaging Het
Cp A T 3: 20,029,049 (GRCm39) T509S probably benign Het
Cyp2d10 T C 15: 82,288,684 (GRCm39) D266G probably damaging Het
Dhodh C G 8: 110,333,048 (GRCm39) R7P probably damaging Het
Dmxl2 A G 9: 54,354,189 (GRCm39) L419P probably benign Het
Epb41l4b A T 4: 57,019,875 (GRCm39) M84K probably benign Het
Fbln7 A G 2: 128,722,345 (GRCm39) probably null Het
Fbxw11 C T 11: 32,592,820 (GRCm39) probably benign Het
Flnc C A 6: 29,443,447 (GRCm39) P543T probably damaging Het
Grid1 T C 14: 34,748,737 (GRCm39) S186P probably damaging Het
Hcfc2 C T 10: 82,559,534 (GRCm39) T382M probably damaging Het
Hdac9 G T 12: 34,487,246 (GRCm39) L73I probably damaging Het
Hnrnpa2b1 A T 6: 51,441,163 (GRCm39) D302E probably damaging Het
Ifi204 C T 1: 173,576,825 (GRCm39) C592Y probably damaging Het
Jph1 T A 1: 17,067,729 (GRCm39) I653F probably damaging Het
Kcnj3 A G 2: 55,484,918 (GRCm39) K339E probably benign Het
Kcp G A 6: 29,493,196 (GRCm39) T838I probably benign Het
Krtap26-1 A T 16: 88,444,108 (GRCm39) V171E possibly damaging Het
Lck G T 4: 129,442,765 (GRCm39) N452K possibly damaging Het
Madd A G 2: 90,990,673 (GRCm39) L1134S probably damaging Het
Man1c1 T C 4: 134,430,500 (GRCm39) D94G probably benign Het
Me2 T A 18: 73,934,930 (GRCm39) M38L probably benign Het
Muc2 A C 7: 141,306,082 (GRCm39) D257A probably damaging Het
Myh11 T C 16: 14,018,566 (GRCm39) K1927E probably damaging Het
Naaladl1 C T 19: 6,158,920 (GRCm39) P324S probably damaging Het
Ndufa10 T C 1: 92,379,824 (GRCm39) E303G probably benign Het
Nedd1 C T 10: 92,555,444 (GRCm39) V14I probably benign Het
Nwd1 T G 8: 73,393,958 (GRCm39) V407G probably damaging Het
Or2h15 A C 17: 38,441,748 (GRCm39) C112G probably damaging Het
Or4b1d T A 2: 89,968,593 (GRCm39) K297* probably null Het
Or4k15c T C 14: 50,321,476 (GRCm39) I221V probably benign Het
Or5w13 T A 2: 87,524,104 (GRCm39) T41S probably benign Het
Or7g29 A G 9: 19,286,694 (GRCm39) L161P probably damaging Het
Pgrmc2 T C 3: 41,024,840 (GRCm39) D144G probably damaging Het
Ppp3cb T C 14: 20,551,583 (GRCm39) N516S probably benign Het
Pramel27 T C 4: 143,579,530 (GRCm39) S372P probably damaging Het
Prelp A G 1: 133,842,485 (GRCm39) M220T probably damaging Het
Prss36 A G 7: 127,534,787 (GRCm39) W465R probably damaging Het
Pth2r C A 1: 65,375,920 (GRCm39) F59L probably benign Het
Rab20 C T 8: 11,504,485 (GRCm39) G72R probably damaging Het
Rab4a G T 8: 124,555,769 (GRCm39) G49W probably damaging Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rock1 A T 18: 10,136,152 (GRCm39) Y178* probably null Het
Scaf8 C A 17: 3,247,679 (GRCm39) L1001I probably damaging Het
Sema3b G A 9: 107,482,201 (GRCm39) P26S probably benign Het
Slc23a1 A G 18: 35,752,633 (GRCm39) L548P probably damaging Het
Sncaip A C 18: 53,039,629 (GRCm39) T548P probably benign Het
Stpg2 C T 3: 139,023,177 (GRCm39) P398S possibly damaging Het
Stpg3 A C 2: 25,103,309 (GRCm39) V260G probably damaging Het
Tbc1d9 T A 8: 83,960,875 (GRCm39) F242I probably damaging Het
Tnks1bp1 G A 2: 84,902,066 (GRCm39) R992Q probably damaging Het
Tom1l1 T G 11: 90,537,675 (GRCm39) H394P possibly damaging Het
Topors T G 4: 40,261,442 (GRCm39) N614T possibly damaging Het
Trank1 A T 9: 111,221,129 (GRCm39) Q2622L probably benign Het
Trub2 A G 2: 29,668,858 (GRCm39) S186P probably damaging Het
Unc13c T A 9: 73,479,636 (GRCm39) H1756L probably benign Het
Vmn1r9 A T 6: 57,048,314 (GRCm39) I130F probably benign Het
Wdr72 A T 9: 74,086,837 (GRCm39) I602F probably damaging Het
Zfand3 T A 17: 30,354,362 (GRCm39) F60I possibly damaging Het
Zfp946 G A 17: 22,674,692 (GRCm39) G482E probably benign 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
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'- GCATCAAGCGTGTGACACAG -3'
(R):5'- GTTCATCCTGGTTGGCCATG -3'

Sequencing Primer
(F):5'- AGCGTGTGGAGCTACAGC -3'
(R):5'- ATGTGGTTCCTGCCAGC -3'
Posted On 2015-10-21