Incidental Mutation 'IGL01358:Mafk'
ID75618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mafk
Ensembl Gene ENSMUSG00000018143
Gene Namev-maf musculoaponeurotic fibrosarcoma oncogene family, protein K (avian)
SynonymsNF-E2, p18 NF-E2, Nfe2u
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01358
Quality Score
Status
Chromosome5
Chromosomal Location139791513-139802653 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 139800493 bp
ZygosityHeterozygous
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]
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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A G 7: 27,636,154 Y316C probably damaging Het
Atp6v0a4 T G 6: 38,074,210 D411A probably damaging Het
Calr3 A T 8: 72,427,213 Y178* probably null Het
Ces1e A G 8: 93,214,150 L298P probably damaging Het
Clk3 T C 9: 57,754,592 T391A probably damaging Het
Cr2 A G 1: 195,159,820 I275T probably damaging Het
Cul9 G T 17: 46,538,314 P635H probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dscam A T 16: 96,610,343 S1778T possibly damaging Het
Dsg2 T A 18: 20,601,793 Y943N probably damaging Het
Eml1 A T 12: 108,514,468 T398S probably benign Het
Epha3 G A 16: 63,595,746 probably benign Het
Gm14548 A G 7: 3,895,687 V254A probably benign Het
Hacl1 A T 14: 31,626,417 M200K probably benign Het
Ighmbp2 T A 19: 3,268,817 S420C probably damaging Het
Kcnt1 T A 2: 25,916,005 I1200N probably damaging Het
Kctd21 T A 7: 97,347,374 L18Q probably damaging Het
Krt78 A C 15: 101,946,263 S1038A probably benign Het
Lrp2 C A 2: 69,552,470 probably benign Het
Lrrc41 T A 4: 116,075,587 V60D probably benign Het
Mest T A 6: 30,746,331 probably benign Het
Nlrp1b G A 11: 71,181,856 T387I possibly damaging Het
Notch3 C T 17: 32,144,747 D1140N probably damaging Het
Nxph2 A G 2: 23,400,074 N146S probably damaging Het
Olfm1 T C 2: 28,229,495 C381R probably damaging Het
Olfr504 T A 7: 108,565,202 R198W probably benign Het
Olfr510 C T 7: 108,667,662 P82L possibly damaging Het
Parp11 C T 6: 127,471,563 Q48* probably null Het
Pgc T C 17: 47,730,666 V175A probably benign Het
Plxna1 G T 6: 89,322,750 T1679N probably damaging Het
Pnpt1 G T 11: 29,138,425 L229F possibly damaging Het
Ppp1r12b A T 1: 134,892,159 L282Q probably damaging Het
Rag2 C A 2: 101,630,020 A225D possibly damaging Het
Ralgps1 T C 2: 33,143,049 D456G possibly damaging Het
Rasgrf2 T A 13: 91,982,630 T170S probably benign Het
Rel C T 11: 23,761,155 S4N probably benign Het
Rims3 C T 4: 120,891,503 S307F possibly damaging Het
Rnf123 A G 9: 108,069,182 L290P probably damaging Het
Rtn4r G T 16: 18,151,396 M229I possibly damaging Het
Rusc2 G A 4: 43,426,116 R1407Q probably damaging Het
Sec23ip A T 7: 128,752,797 Q259L possibly damaging Het
Slc24a4 G A 12: 102,223,635 C204Y probably benign Het
Slc27a3 T C 3: 90,386,552 T542A probably damaging Het
Smarcal1 A T 1: 72,616,565 I668F possibly damaging Het
Snap91 C A 9: 86,806,560 V311F probably damaging Het
Sp8 T A 12: 118,848,970 S187T probably damaging Het
Tcerg1 T C 18: 42,524,277 S275P unknown Het
Vwce T A 19: 10,664,409 V833D possibly damaging Het
Zbtb8b A G 4: 129,433,259 S38P probably damaging Het
Zfp598 T C 17: 24,681,424 probably benign Het
Zkscan4 G A 13: 21,484,305 E309K possibly damaging Het
Other mutations in Mafk
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1587:Mafk UTSW 5 139800145 missense probably damaging 1.00
R3435:Mafk UTSW 5 139800307 nonsense probably null
R4694:Mafk UTSW 5 139800493 missense probably damaging 0.98
R6330:Mafk UTSW 5 139799193 missense probably benign 0.02
R7089:Mafk UTSW 5 139800121 missense probably benign 0.00
Posted On2013-10-07