Incidental Mutation 'R2918:Mafa'
ID 255384
Institutional Source Beutler Lab
Gene Symbol Mafa
Ensembl Gene ENSMUSG00000047591
Gene Name MAF bZIP transcription factor A
Synonyms RIPE3b1
MMRRC Submission 040503-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.596) question?
Stock # R2918 (G1)
Quality Score 216
Status Not validated
Chromosome 15
Chromosomal Location 75617339-75620077 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75619147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 209 (S209P)
Ref Sequence ENSEMBL: ENSMUSP00000054226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062002]
AlphaFold Q8CF90
Predicted Effect probably benign
Transcript: ENSMUST00000062002
AA Change: S209P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000054226
Gene: ENSMUSG00000047591
AA Change: S209P

DomainStartEndE-ValueType
low complexity region 46 107 N/A INTRINSIC
Pfam:Maf_N 109 142 4.7e-23 PFAM
low complexity region 144 160 N/A INTRINSIC
low complexity region 170 226 N/A INTRINSIC
BRLZ 256 322 1.68e-7 SMART
low complexity region 324 336 N/A INTRINSIC
low complexity region 343 355 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant mice exhibit glucose intolerance and develop diabetes mellitus. Glucose-stimulated insulin secretion is severely impaired and mutant mice display pancreatic islet abnormalities as they age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 22,989,579 (GRCm39) N401D probably benign Het
Agtpbp1 T A 13: 59,644,829 (GRCm39) D679V possibly damaging Het
Akap8 A G 17: 32,524,622 (GRCm39) V558A probably benign Het
Arrdc2 C T 8: 71,290,171 (GRCm39) R170Q probably benign Het
Atg10 A T 13: 91,189,027 (GRCm39) H94Q probably damaging Het
Atg4a-ps G A 3: 103,552,837 (GRCm39) A168V probably damaging Het
Crb2 G T 2: 37,673,395 (GRCm39) R97L probably benign Het
Dnaja1 C T 4: 40,724,052 (GRCm39) A71V possibly damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
G6pd2 A G 5: 61,966,869 (GRCm39) R215G probably damaging Het
Hcn3 A G 3: 89,054,920 (GRCm39) S776P probably benign Het
Ift140 C A 17: 25,254,805 (GRCm39) N159K possibly damaging Het
Mug2 A G 6: 122,051,683 (GRCm39) probably null Het
Myh14 T C 7: 44,265,687 (GRCm39) D1564G possibly damaging Het
Ncor2 T A 5: 125,102,824 (GRCm39) I1792F probably damaging Het
Nod2 T C 8: 89,379,519 (GRCm39) F7L probably benign Het
Odad2 G A 18: 7,222,625 (GRCm39) S548L probably benign Het
Or10d5 A G 9: 39,861,660 (GRCm39) S136P probably benign Het
Or1m1 T A 9: 18,666,775 (GRCm39) D52V probably damaging Het
Or2aa1 T C 11: 59,480,265 (GRCm39) T217A probably benign Het
Pak3 T C X: 142,547,972 (GRCm39) V318A probably damaging Het
Pik3ap1 T C 19: 41,290,970 (GRCm39) T521A probably benign Het
Pkdcc G C 17: 83,523,378 (GRCm39) A162P probably benign Het
Rassf4 A G 6: 116,618,701 (GRCm39) V194A probably damaging Het
Scp2d1 T A 2: 144,665,868 (GRCm39) I69N probably damaging Het
Spg11 A G 2: 121,905,782 (GRCm39) S1288P probably damaging Het
Sptb A G 12: 76,645,532 (GRCm39) S2019P probably damaging Het
Stxbp5l A T 16: 37,021,004 (GRCm39) L630* probably null Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,707,084 (GRCm39) probably benign Het
Trpc1 C T 9: 95,605,182 (GRCm39) R159H probably damaging Het
Zbtb14 C T 17: 69,695,214 (GRCm39) P304L probably damaging Het
Other mutations in Mafa
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4086:Mafa UTSW 15 75,618,986 (GRCm39) missense probably damaging 1.00
R4180:Mafa UTSW 15 75,619,413 (GRCm39) missense possibly damaging 0.75
R4581:Mafa UTSW 15 75,619,585 (GRCm39) missense unknown
R5017:Mafa UTSW 15 75,619,338 (GRCm39) missense probably benign 0.01
R5193:Mafa UTSW 15 75,619,666 (GRCm39) missense unknown
R5221:Mafa UTSW 15 75,618,891 (GRCm39) missense possibly damaging 0.82
R5846:Mafa UTSW 15 75,619,627 (GRCm39) missense probably benign 0.23
R6736:Mafa UTSW 15 75,619,629 (GRCm39) missense unknown
R7085:Mafa UTSW 15 75,619,536 (GRCm39) missense unknown
R8790:Mafa UTSW 15 75,619,224 (GRCm39) missense probably benign 0.01
R9132:Mafa UTSW 15 75,619,048 (GRCm39) missense possibly damaging 0.63
R9620:Mafa UTSW 15 75,619,161 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCTTCTGTTTCAGTCGGATGAC -3'
(R):5'- ATCTGTACTGGATGAGCGGG -3'

Sequencing Primer
(F):5'- GGATGACCTCCTCCTTGCTGAAG -3'
(R):5'- AGGCGCTCAACCTGACG -3'
Posted On 2014-12-29