Incidental Mutation 'R5017:Mafa'
ID 385634
Institutional Source Beutler Lab
Gene Symbol Mafa
Ensembl Gene ENSMUSG00000047591
Gene Name MAF bZIP transcription factor A
Synonyms RIPE3b1
MMRRC Submission 042608-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.596) question?
Stock # R5017 (G1)
Quality Score 110
Status Validated
Chromosome 15
Chromosomal Location 75617339-75620077 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75619338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 145 (H145R)
Ref Sequence ENSEMBL: ENSMUSP00000054226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062002]
AlphaFold Q8CF90
Predicted Effect probably benign
Transcript: ENSMUST00000062002
AA Change: H145R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000054226
Gene: ENSMUSG00000047591
AA Change: H145R

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 0.0692 question?
Coding Region Coverage
  • 1x: 98.1%
  • 3x: 97.0%
  • 10x: 94.3%
  • 20x: 87.9%
Validation Efficiency 96% (46/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T C 14: 68,810,694 (GRCm39) D154G probably benign Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Arhgef3 G T 14: 26,987,487 (GRCm39) R20L possibly damaging Het
Birc2 A T 9: 7,818,886 (GRCm39) C568* probably null Het
Bltp3a T A 17: 28,113,713 (GRCm39) L1295* probably null Het
Cep44 A G 8: 56,997,242 (GRCm39) S99P possibly damaging Het
Clstn2 A G 9: 97,365,139 (GRCm39) W456R probably damaging Het
Cog5 T A 12: 31,970,604 (GRCm39) S783T probably benign Het
Endod1 G A 9: 14,268,187 (GRCm39) R433* probably null Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gdpd4 C A 7: 97,653,482 (GRCm39) Y498* probably null Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Hapln2 A G 3: 87,931,308 (GRCm39) V69A probably damaging Het
Ifit3 A C 19: 34,564,592 (GRCm39) N46T possibly damaging Het
Kcnh8 T C 17: 53,200,958 (GRCm39) L464S probably damaging Het
Lrrc9 C A 12: 72,553,099 (GRCm39) R1334S possibly damaging Het
Macf1 A G 4: 123,345,906 (GRCm39) F2631L probably damaging Het
Muc6 T C 7: 141,226,795 (GRCm39) T1411A probably benign Het
Nos3 A G 5: 24,571,717 (GRCm39) probably benign Het
Nwd2 T A 5: 63,807,484 (GRCm39) probably benign Het
Or10g6 A T 9: 39,933,672 (GRCm39) probably benign Het
Or8a1b A T 9: 37,622,821 (GRCm39) Y251* probably null Het
Or8g20 A T 9: 39,396,051 (GRCm39) M166K possibly damaging Het
Pde11a A T 2: 75,966,711 (GRCm39) D579E probably benign Het
Phkb A T 8: 86,776,438 (GRCm39) H954L probably benign Het
Phldb3 C T 7: 24,319,521 (GRCm39) T353M probably damaging Het
Pigu A T 2: 155,141,128 (GRCm39) probably null Het
Pla2r1 A G 2: 60,353,104 (GRCm39) probably null Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Setbp1 C A 18: 78,899,809 (GRCm39) G1286V possibly damaging Het
Siglecg T A 7: 43,060,810 (GRCm39) probably benign Het
Slc25a46 A T 18: 31,738,836 (GRCm39) H118Q probably damaging Het
Spata31h1 A T 10: 82,132,510 (GRCm39) F167I unknown Het
Sycp1 A T 3: 102,803,303 (GRCm39) probably null Het
Tmem132c A G 5: 127,640,414 (GRCm39) T862A probably benign Het
Tmem256 T C 11: 69,729,818 (GRCm39) probably benign Het
Tpr A T 1: 150,274,388 (GRCm39) E98D probably benign Het
Trdn A G 10: 33,344,155 (GRCm39) D623G probably benign Het
Trip11 T C 12: 101,812,879 (GRCm39) N1485S probably benign Het
Trpm1 T C 7: 63,894,580 (GRCm39) probably benign Het
Vmn1r227 T C 17: 20,956,340 (GRCm39) noncoding transcript Het
Xpo6 G A 7: 125,703,919 (GRCm39) A21V probably benign Het
Zfp276 A G 8: 123,991,716 (GRCm39) 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
R4180:Mafa UTSW 15 75,619,413 (GRCm39) missense possibly damaging 0.75
R4581:Mafa UTSW 15 75,619,585 (GRCm39) missense unknown
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'- GACTTCGACCTGATGAAGTTCG -3'

Sequencing Primer
(F):5'- GAGAAGCGCTCCTCCAAG -3'
(R):5'- CGACCTGATGAAGTTCGAGGTG -3'
Posted On 2016-05-10