Incidental Mutation 'R4180:Mafa'
ID 319703
Institutional Source Beutler Lab
Gene Symbol Mafa
Ensembl Gene ENSMUSG00000047591
Gene Name MAF bZIP transcription factor A
Synonyms RIPE3b1
MMRRC Submission 041016-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.596) question?
Stock # R4180 (G1)
Quality Score 136
Status Validated
Chromosome 15
Chromosomal Location 75617339-75620077 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75619413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 120 (Y120C)
Ref Sequence ENSEMBL: ENSMUSP00000054226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062002]
AlphaFold Q8CF90
Predicted Effect possibly damaging
Transcript: ENSMUST00000062002
AA Change: Y120C

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000054226
Gene: ENSMUSG00000047591
AA Change: Y120C

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
Meta Mutation Damage Score 0.4095 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (52/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,331,590 (GRCm39) S1326P possibly damaging Het
Adam22 T G 5: 8,199,218 (GRCm39) D246A probably damaging Het
Bmf T C 2: 118,363,018 (GRCm39) probably benign Het
Cd300lf T C 11: 115,015,089 (GRCm39) Y160C possibly damaging Het
Chuk G A 19: 44,090,279 (GRCm39) A71V probably benign Het
Col19a1 C T 1: 24,309,473 (GRCm39) G1060E probably damaging Het
Dock7 A G 4: 98,904,973 (GRCm39) V634A probably benign Het
Dpm3 A G 3: 89,174,039 (GRCm39) probably benign Het
Dqx1 A G 6: 83,036,460 (GRCm39) T155A probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Fam184b T C 5: 45,697,106 (GRCm39) E686G probably benign Het
Fhad1 T A 4: 141,712,854 (GRCm39) D195V possibly damaging Het
Glis2 T C 16: 4,429,240 (GRCm39) S148P probably benign Het
Gm8587 C T 12: 88,056,516 (GRCm39) noncoding transcript Het
Gon7 A G 12: 102,720,363 (GRCm39) S90P probably benign Het
Haus6 A T 4: 86,501,811 (GRCm39) W687R probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Idh3g A T X: 72,825,610 (GRCm39) probably null Het
Ints9 T C 14: 65,230,430 (GRCm39) L119P probably damaging Het
Itga9 T C 9: 118,436,146 (GRCm39) Y51H probably damaging Het
Klf17 T A 4: 117,616,383 (GRCm39) H316L probably benign Het
Klf4 C T 4: 55,530,884 (GRCm39) G26R possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lhcgr A G 17: 89,049,711 (GRCm39) V605A probably damaging Het
Map3k20 A G 2: 72,271,915 (GRCm39) Y681C probably damaging Het
Nub1 T C 5: 24,897,875 (GRCm39) I87T probably damaging Het
Or1ak2 T A 2: 36,827,242 (GRCm39) V37D probably damaging Het
Pak2 C G 16: 31,871,005 (GRCm39) G59A probably benign Het
Pdzrn4 T A 15: 92,299,898 (GRCm39) V256D possibly damaging Het
Pkd2l1 T C 19: 44,180,620 (GRCm39) N32D probably benign Het
Plec T C 15: 76,064,415 (GRCm39) K1953R possibly damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Prkcd A G 14: 30,332,261 (GRCm39) probably benign Het
Rgcc T C 14: 79,538,155 (GRCm39) S79G probably benign Het
Sspo T C 6: 48,475,329 (GRCm39) probably null Het
Stxbp5l A T 16: 37,068,242 (GRCm39) C315S probably benign Het
Tc2n A G 12: 101,631,954 (GRCm39) L301P probably damaging Het
Tcerg1l T C 7: 137,878,405 (GRCm39) probably null Het
Tex12 T C 9: 50,470,587 (GRCm39) probably null Het
Tgm5 T C 2: 120,907,442 (GRCm39) I94V probably benign Het
Tonsl A G 15: 76,508,675 (GRCm39) L26P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trbv4 A C 6: 41,036,646 (GRCm39) D57A possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tuba4a T C 1: 75,192,426 (GRCm39) D396G probably benign Het
Txnrd2 C G 16: 18,245,175 (GRCm39) probably null Het
Zfp445 T C 9: 122,681,589 (GRCm39) N784S probably benign Het
Zfp459 G T 13: 67,556,562 (GRCm39) L174I probably benign Het
Other mutations in Mafa
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2918:Mafa UTSW 15 75,619,147 (GRCm39) missense probably benign 0.10
R4086:Mafa UTSW 15 75,618,986 (GRCm39) missense probably damaging 1.00
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'- ACGGACATGGATACCAGCTG -3'
(R):5'- CAACGACTTCGACCTGATGAAG -3'

Sequencing Primer
(F):5'- GAGAAGCGCTCCTCCAAG -3'
(R):5'- ACTTCGACCTGATGAAGTTCGAG -3'
Posted On 2015-06-10