Incidental Mutation 'IGL02899:Maf1'
ID363531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Maf1
Ensembl Gene ENSMUSG00000022553
Gene NameMAF1 homolog, negative regulator of RNA polymerase III
SynonymsMaf1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.687) question?
Stock #IGL02899
Quality Score
Status
Chromosome15
Chromosomal Location76351294-76354380 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 76353020 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023211] [ENSMUST00000023212] [ENSMUST00000160172] [ENSMUST00000160560] [ENSMUST00000161527] [ENSMUST00000160853] [ENSMUST00000160914] [ENSMUST00000208833] [ENSMUST00000230314]
Predicted Effect probably benign
Transcript: ENSMUST00000023211
SMART Domains Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552

DomainStartEndE-ValueType
Pfam:Sharpin_PH 13 125 1.2e-44 PFAM
low complexity region 187 202 N/A INTRINSIC
PDB:4DBG|A 203 299 1e-17 PDB
SCOP:d1euvb_ 212 301 2e-5 SMART
Blast:UBQ 218 299 2e-26 BLAST
ZnF_RBZ 343 367 9.65e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000023212
SMART Domains Protein: ENSMUSP00000023212
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
Pfam:Maf1 24 202 2.8e-69 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160097
Predicted Effect probably benign
Transcript: ENSMUST00000160172
SMART Domains Protein: ENSMUSP00000124242
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
Pfam:Maf1 24 202 2.7e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160560
SMART Domains Protein: ENSMUSP00000125382
Gene: ENSMUSG00000022552

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
PDB:4EMO|D 24 62 2e-13 PDB
low complexity region 64 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161527
SMART Domains Protein: ENSMUSP00000125387
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
Pfam:Maf1 24 202 2.8e-69 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161391
Predicted Effect probably benign
Transcript: ENSMUST00000160853
SMART Domains Protein: ENSMUSP00000124893
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
Pfam:Maf1 25 202 4.6e-67 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160914
SMART Domains Protein: ENSMUSP00000124110
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
low complexity region 33 48 N/A INTRINSIC
Pfam:Maf1 84 202 4.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161072
SMART Domains Protein: ENSMUSP00000125332
Gene: ENSMUSG00000022553

DomainStartEndE-ValueType
low complexity region 24 53 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000230314
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and represses pol III transcription. Biochemical studies identified the initiation factor TFIIIB as a target for Maf1-dependent repression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit slow postnatal weight gain, reduced fertility, decreased food intake, decreased susceptibility to hepatic steatosis and diet-induced obesity, increased energy expenditure, altered lipid homeostasis, high levels of amino acids and spermidine, and an extended life span. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik C A 9: 103,277,574 V173L probably damaging Het
Arfgef2 A G 2: 166,869,051 probably benign Het
Btbd7 A G 12: 102,837,662 L373P probably damaging Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 A T 19: 56,793,488 I753N probably benign Het
Ccser2 G A 14: 36,940,759 T156I probably benign Het
Celsr1 A G 15: 86,031,726 M682T probably damaging Het
Cep97 C A 16: 55,918,540 S267I probably damaging Het
Dhx35 A G 2: 158,801,450 Y39C probably damaging Het
Dscam A T 16: 96,709,247 D937E probably damaging Het
Elmod2 A G 8: 83,316,933 Y202H probably damaging Het
Fyco1 T C 9: 123,830,331 N260S possibly damaging Het
Gm5591 A G 7: 38,519,418 L677P probably damaging Het
Gmppa A G 1: 75,441,830 probably null Het
Hltf C T 3: 20,099,817 T639I probably damaging Het
Kpnb1 T C 11: 97,175,786 Y321C probably damaging Het
Lgr4 G A 2: 109,918,253 G45R probably damaging Het
Ltn1 T C 16: 87,382,659 D1538G probably benign Het
Morn5 T C 2: 36,055,037 F91S probably damaging Het
Ncan C T 8: 70,115,048 R138H possibly damaging Het
Olfr1328 A T 4: 118,934,662 M62K probably damaging Het
Olfr203 G T 16: 59,303,286 L44F probably damaging Het
Parg T C 14: 32,238,574 L82S probably damaging Het
Ppp2r2b A T 18: 42,645,809 H417Q probably damaging Het
Rb1cc1 T C 1: 6,264,583 L98P probably damaging Het
Ryr1 C A 7: 29,048,795 V3752L possibly damaging Het
Slc25a12 A G 2: 71,279,635 L489P probably damaging Het
Slc38a8 C T 8: 119,485,543 V354M probably benign Het
Slf2 A G 19: 44,942,020 E512G probably benign Het
Tarbp1 A G 8: 126,453,844 M597T probably damaging Het
Tgfb3 G A 12: 86,069,776 R163C probably damaging Het
Tmco5b A G 2: 113,296,920 M279V probably benign Het
Ttll9 G A 2: 153,002,951 G413D probably damaging Het
Tut1 A G 19: 8,962,387 D245G probably damaging Het
Usf3 T A 16: 44,221,226 V2023E probably damaging Het
Vps33a C T 5: 123,531,176 G554D probably damaging Het
Zfp27 C A 7: 29,896,255 R95M possibly damaging Het
Other mutations in Maf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Maf1 APN 15 76352692 missense probably damaging 0.99
IGL02396:Maf1 APN 15 76353257 nonsense probably null
IGL02695:Maf1 APN 15 76352755 missense possibly damaging 0.71
R2004:Maf1 UTSW 15 76353363 missense probably damaging 1.00
R2207:Maf1 UTSW 15 76352518 missense probably benign 0.01
R4395:Maf1 UTSW 15 76352157 unclassified probably benign
R4850:Maf1 UTSW 15 76352962 missense possibly damaging 0.92
R5354:Maf1 UTSW 15 76353130 unclassified probably benign
R5658:Maf1 UTSW 15 76353220 missense possibly damaging 0.65
R6112:Maf1 UTSW 15 76352112 unclassified probably benign
R7956:Maf1 UTSW 15 76352496 missense probably benign 0.06
Posted On2015-12-18