Incidental Mutation 'R7956:Maf1'
ID 649860
Institutional Source Beutler Lab
Gene Symbol Maf1
Ensembl Gene ENSMUSG00000022553
Gene Name MAF1 homolog, negative regulator of RNA polymerase III
Synonyms Maf1, 1110068E11Rik
MMRRC Submission 046000-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.537) question?
Stock # R7956 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 76235494-76238578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76236696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 9 (F9L)
Ref Sequence ENSEMBL: ENSMUSP00000023212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023211] [ENSMUST00000023212] [ENSMUST00000160172] [ENSMUST00000160560] [ENSMUST00000160853] [ENSMUST00000160914] [ENSMUST00000161527] [ENSMUST00000208833] [ENSMUST00000230314]
AlphaFold Q9D0U6
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
AA Change: F9L

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023212
Gene: ENSMUSG00000022553
AA Change: F9L

DomainStartEndE-ValueType
Pfam:Maf1 24 202 2.8e-69 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159429
SMART Domains Protein: ENSMUSP00000124755
Gene: ENSMUSG00000022552

DomainStartEndE-ValueType
ZnF_RBZ 46 70 9.65e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160172
AA Change: F9L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000124242
Gene: ENSMUSG00000022553
AA Change: F9L

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: ENSMUST00000160853
AA Change: F9L

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124893
Gene: ENSMUSG00000022553
AA Change: F9L

DomainStartEndE-ValueType
Pfam:Maf1 25 202 4.6e-67 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160914
AA Change: F9L

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124110
Gene: ENSMUSG00000022553
AA Change: F9L

DomainStartEndE-ValueType
low complexity region 33 48 N/A INTRINSIC
Pfam:Maf1 84 202 4.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161527
AA Change: F9L

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125387
Gene: ENSMUSG00000022553
AA Change: F9L

DomainStartEndE-ValueType
Pfam:Maf1 24 202 2.8e-69 PFAM
low complexity region 215 244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000208833
Predicted Effect probably benign
Transcript: ENSMUST00000230314
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (78/78)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik T C 15: 84,834,963 (GRCm39) S332G possibly damaging Het
Acaca A T 11: 84,211,406 (GRCm39) N1573Y probably damaging Het
Arhgef33 A G 17: 80,662,477 (GRCm39) K220R possibly damaging Het
Arsj A T 3: 126,232,151 (GRCm39) D299V probably damaging Het
Asic3 A C 5: 24,621,975 (GRCm39) I412L possibly damaging Het
AU018091 A T 7: 3,211,095 (GRCm39) L278Q probably benign Het
Baat A T 4: 49,490,117 (GRCm39) F322L probably damaging Het
Bap1 A G 14: 30,977,525 (GRCm39) Q280R probably benign Het
Bet1 T C 6: 4,079,965 (GRCm39) E66G probably benign Het
Brpf1 T C 6: 113,297,493 (GRCm39) S1000P probably benign Het
Ccdc78 A T 17: 26,006,091 (GRCm39) E86D possibly damaging Het
Ccdc88a T G 11: 29,413,892 (GRCm39) L810R probably damaging Het
Cd209f T C 8: 4,154,859 (GRCm39) T80A probably benign Het
Chrna7 T G 7: 62,753,541 (GRCm39) K326T possibly damaging Het
Cldn15 T C 5: 137,003,504 (GRCm39) S169P probably damaging Het
Cmklr2 T C 1: 63,222,665 (GRCm39) N190S probably damaging Het
Corin A G 5: 72,579,530 (GRCm39) S281P probably damaging Het
Coro1a A G 7: 126,300,727 (GRCm39) V200A probably benign Het
Crebrf C G 17: 26,961,631 (GRCm39) P243A probably benign Het
Cxxc1 T G 18: 74,352,054 (GRCm39) probably null Het
Dera C T 6: 137,813,826 (GRCm39) T282M probably benign Het
Dnah12 A T 14: 26,430,427 (GRCm39) D345V probably damaging Het
Dop1b T C 16: 93,567,916 (GRCm39) probably null Het
Dst T A 1: 34,264,699 (GRCm39) V2623E probably damaging Het
Dysf T C 6: 83,985,978 (GRCm39) F28L probably benign Het
Eogt C A 6: 97,120,926 (GRCm39) V96F probably benign Het
Exoc1 A T 5: 76,705,704 (GRCm39) T464S probably benign Het
Fam234a A G 17: 26,435,551 (GRCm39) Y278H probably damaging Het
Gatd3a T C 10: 77,999,405 (GRCm39) probably null Het
Gne T A 4: 44,044,962 (GRCm39) I391L probably benign Het
Gpr22 G T 12: 31,759,219 (GRCm39) T301K possibly damaging Het
Gria1 A G 11: 57,080,626 (GRCm39) D203G possibly damaging Het
Grin2c T C 11: 115,140,974 (GRCm39) E1048G probably benign Het
Hcn4 A G 9: 58,751,456 (GRCm39) T361A unknown Het
Herc2 T C 7: 55,763,148 (GRCm39) S918P probably damaging Het
Hr A G 14: 70,797,327 (GRCm39) E520G probably benign Het
Idi1 T G 13: 8,937,996 (GRCm39) S147R possibly damaging Het
Irf9 G A 14: 55,846,481 (GRCm39) G464E probably benign Het
Kif16b T C 2: 142,704,390 (GRCm39) Y63C probably benign Het
Klhl31 A T 9: 77,557,903 (GRCm39) E206D probably benign Het
Lrch3 A G 16: 32,806,377 (GRCm39) M454V probably null Het
Lrp1b A C 2: 41,172,161 (GRCm39) probably null Het
Lyst A G 13: 13,815,788 (GRCm39) D1224G possibly damaging Het
Mllt10 T A 2: 18,175,068 (GRCm39) I542N probably benign Het
Mrpl19 T C 6: 81,940,962 (GRCm39) N143S probably benign Het
Myo5c A G 9: 75,159,845 (GRCm39) N291S probably benign Het
Myocd G T 11: 65,160,494 (GRCm39) L11M possibly damaging Het
Or2ag2 G A 7: 106,485,178 (GRCm39) T282I possibly damaging Het
Or5ac20 C A 16: 59,104,856 (GRCm39) M1I probably null Het
Or5an10 A C 19: 12,275,666 (GRCm39) F277V probably damaging Het
Otogl T C 10: 107,713,887 (GRCm39) I511V possibly damaging Het
Phf19 T C 2: 34,796,567 (GRCm39) Y121C possibly damaging Het
Pik3c2a T C 7: 115,949,350 (GRCm39) T1346A probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Polr2b A G 5: 77,468,092 (GRCm39) T131A probably benign Het
Pom121 T C 5: 135,412,815 (GRCm39) T456A unknown Het
Pom121l2 T C 13: 22,167,316 (GRCm39) L529S probably damaging Het
Prss34 A G 17: 25,518,553 (GRCm39) I214V probably benign Het
Prss42 A G 9: 110,628,402 (GRCm39) Y182C probably damaging Het
Rapgef1 A G 2: 29,589,027 (GRCm39) I223V probably benign Het
Rbbp6 C T 7: 122,600,561 (GRCm39) P1523S unknown Het
Ripk1 T G 13: 34,193,666 (GRCm39) N9K probably benign Het
Six4 A G 12: 73,150,535 (GRCm39) L670S possibly damaging Het
Skint6 C T 4: 112,703,894 (GRCm39) D994N possibly damaging Het
Slc18a1 T C 8: 69,491,466 (GRCm39) D516G probably benign Het
Slc35g3 A T 11: 69,651,623 (GRCm39) Y121N probably damaging Het
Slc41a1 T G 1: 131,771,766 (GRCm39) S393R possibly damaging Het
Smg7 T C 1: 152,719,953 (GRCm39) H818R probably benign Het
Sorl1 A G 9: 41,900,655 (GRCm39) Y1686H probably damaging Het
Stab1 G T 14: 30,881,981 (GRCm39) T521K probably benign Het
Stard9 T A 2: 120,535,852 (GRCm39) Y4036* probably null Het
Tek T G 4: 94,687,580 (GRCm39) probably null Het
Tex35 C T 1: 156,927,742 (GRCm39) D143N probably damaging Het
Tgm1 T A 14: 55,946,352 (GRCm39) H428L probably benign Het
Tigd3 G A 19: 5,942,594 (GRCm39) P179S possibly damaging Het
Tnip3 T A 6: 65,591,779 (GRCm39) probably null Het
Ttc1 A G 11: 43,627,240 (GRCm39) probably null Het
Utp20 C T 10: 88,618,476 (GRCm39) E1175K probably benign Het
Vmn1r151 A T 7: 22,199,085 (GRCm39) S7T possibly damaging Het
Vmn1r34 T A 6: 66,614,777 (GRCm39) probably benign Het
Vmn2r74 A T 7: 85,605,166 (GRCm39) M494K probably benign Het
Vps26c T C 16: 94,302,505 (GRCm39) N234D probably damaging Het
Vsig10l T C 7: 43,117,494 (GRCm39) S594P probably benign Het
Zfp937 A G 2: 150,081,076 (GRCm39) S369G probably benign Het
Other mutations in Maf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Maf1 APN 15 76,236,892 (GRCm39) missense probably damaging 0.99
IGL02396:Maf1 APN 15 76,237,457 (GRCm39) nonsense probably null
IGL02695:Maf1 APN 15 76,236,955 (GRCm39) missense possibly damaging 0.71
IGL02899:Maf1 APN 15 76,237,220 (GRCm39) unclassified probably benign
R2004:Maf1 UTSW 15 76,237,563 (GRCm39) missense probably damaging 1.00
R2207:Maf1 UTSW 15 76,236,718 (GRCm39) missense probably benign 0.01
R4395:Maf1 UTSW 15 76,236,357 (GRCm39) unclassified probably benign
R4850:Maf1 UTSW 15 76,237,162 (GRCm39) missense possibly damaging 0.92
R5354:Maf1 UTSW 15 76,237,330 (GRCm39) unclassified probably benign
R5658:Maf1 UTSW 15 76,237,420 (GRCm39) missense possibly damaging 0.65
R6112:Maf1 UTSW 15 76,236,312 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGATGAGCTCCATGGTGGAC -3'
(R):5'- TGAACATATGTTTATCATCTCCCGC -3'

Sequencing Primer
(F):5'- CCATGGTGGACTCAAGGTTAGCTC -3'
(R):5'- TCCCGCCATCTTACACGAGTAG -3'
Posted On 2020-09-15