Incidental Mutation 'IGL02396:Maf1'
ID294341
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: 0.632) question?
Stock #IGL02396
Quality Score
Status
Chromosome15
Chromosomal Location76351294-76354380 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 76353257 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 166 (Y166*)
Ref Sequence ENSEMBL: ENSMUSP00000125387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023211] [ENSMUST00000023212] [ENSMUST00000160172] [ENSMUST00000160560] [ENSMUST00000160853] [ENSMUST00000161527] [ENSMUST00000208833] [ENSMUST00000160914] [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 null
Transcript: ENSMUST00000023212
AA Change: Y166*
SMART Domains Protein: ENSMUSP00000023212
Gene: ENSMUSG00000022553
AA Change: Y166*

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: ENSMUST00000152151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160097
Predicted Effect probably null
Transcript: ENSMUST00000160172
AA Change: Y166*
SMART Domains Protein: ENSMUSP00000124242
Gene: ENSMUSG00000022553
AA Change: Y166*

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 null
Transcript: ENSMUST00000160853
AA Change: Y166*
SMART Domains Protein: ENSMUSP00000124893
Gene: ENSMUSG00000022553
AA Change: Y166*

DomainStartEndE-ValueType
Pfam:Maf1 25 202 4.6e-67 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000161527
AA Change: Y166*
SMART Domains Protein: ENSMUSP00000125387
Gene: ENSMUSG00000022553
AA Change: Y166*

DomainStartEndE-ValueType
Pfam:Maf1 24 202 2.8e-69 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162871
Predicted Effect probably benign
Transcript: ENSMUST00000208833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161391
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: 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: 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,644,799 probably benign Het
Bmp3 C A 5: 98,872,719 Q334K possibly damaging Het
Bnc2 G T 4: 84,276,009 S1026R probably benign Het
Bsn C T 9: 108,116,046 G836S possibly damaging Het
Cand2 A G 6: 115,791,188 probably benign Het
Ccdc24 T C 4: 117,869,629 T296A possibly damaging Het
Ccdc38 A G 10: 93,574,132 N271S possibly damaging Het
Ccdc81 T G 7: 89,881,649 I362L probably benign Het
Cdhr3 T A 12: 33,045,196 I625F possibly damaging Het
Col12a1 T A 9: 79,662,583 R1568S probably benign Het
Cpeb4 T A 11: 31,925,441 S547T probably benign Het
Dennd4c T A 4: 86,825,000 N1075K probably damaging Het
Esrra C A 19: 6,912,005 V339L probably benign Het
Ghr A T 15: 3,457,998 M1K probably null Het
Gm4987 T A X: 46,456,114 noncoding transcript Het
Gm5096 A G 18: 87,756,656 E101G possibly damaging Het
Golga2 G T 2: 32,298,644 probably benign Het
Gys1 T A 7: 45,439,588 I137N probably damaging Het
Hs3st5 A T 10: 36,828,703 M1L probably benign Het
Hsd3b5 T A 3: 98,622,027 T96S probably benign Het
Ighv6-3 T C 12: 114,391,736 D111G probably damaging Het
Immp1l T A 2: 105,937,006 I70N probably damaging Het
Ints4 G A 7: 97,537,900 V866I possibly damaging Het
Large2 G T 2: 92,366,323 Y529* probably null Het
Manba T A 3: 135,544,764 M384K probably damaging Het
Mapk4 C A 18: 73,933,997 probably null Het
Mc5r T C 18: 68,339,466 S299P possibly damaging Het
Mdn1 T A 4: 32,700,120 N1404K probably damaging Het
Milr1 C A 11: 106,765,239 Y212* probably null Het
Ncor2 A G 5: 125,037,914 S1115P probably damaging Het
Olfr1122 A T 2: 87,387,705 probably benign Het
Olfr1314 C A 2: 112,092,467 C78F probably benign Het
Osbpl7 T G 11: 97,055,551 L158R probably damaging Het
Psmd4 A T 3: 95,035,910 L61Q probably damaging Het
Rassf9 A T 10: 102,545,693 N310I possibly damaging Het
Rpl21-ps6 A G 17: 55,915,400 noncoding transcript Het
Slc31a2 T C 4: 62,297,073 I119T probably damaging Het
Srgap2 C A 1: 131,292,675 C187F probably damaging Het
Tekt5 C A 16: 10,379,067 A307S probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Ttn A G 2: 76,945,088 V1916A unknown Het
Wee1 T G 7: 110,142,093 V641G probably damaging Het
Zfand6 G A 7: 84,617,903 P157L probably damaging Het
Other mutations in Maf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Maf1 APN 15 76352692 missense probably damaging 0.99
IGL02695:Maf1 APN 15 76352755 missense possibly damaging 0.71
IGL02899:Maf1 APN 15 76353020 unclassified probably benign
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 On2015-04-16