Incidental Mutation 'R7499:Maf'
ID 581383
Institutional Source Beutler Lab
Gene Symbol Maf
Ensembl Gene ENSMUSG00000055435
Gene Name MAF bZIP transcription factor
Synonyms A230108G15Rik, 2810401A20Rik, c-maf
MMRRC Submission 045572-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.648) question?
Stock # R7499 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 116429992-116433633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116419920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 374 (D374G)
Ref Sequence ENSEMBL: ENSMUSP00000067704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069009]
AlphaFold P54843
Predicted Effect probably benign
Transcript: ENSMUST00000069009
AA Change: D374G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000067704
Gene: ENSMUSG00000055435
AA Change: D374G

DomainStartEndE-ValueType
low complexity region 54 82 N/A INTRINSIC
Pfam:Maf_N 86 119 6.7e-23 PFAM
low complexity region 134 154 N/A INTRINSIC
low complexity region 160 253 N/A INTRINSIC
BRLZ 281 347 8.4e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes show increased mortality at embryonic day 17.5-18.5, low postnatal survival, abnormal differentiation of lens fiber cells causing microphthalmia, defective lens development and impaired IL4 production by CD4+ T cells and natural killer cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,907,186 (GRCm39) D180V possibly damaging Het
Abat T C 16: 8,421,618 (GRCm39) probably null Het
Ankfn1 G A 11: 89,282,576 (GRCm39) T357I probably benign Het
Armc3 C T 2: 19,290,790 (GRCm39) T423I probably benign Het
Asb6 T C 2: 30,714,472 (GRCm39) T213A possibly damaging Het
Atp11a T C 8: 12,882,575 (GRCm39) C488R probably benign Het
Bag6 G A 17: 35,363,368 (GRCm39) R736H probably benign Het
Bche G A 3: 73,609,231 (GRCm39) P65L probably damaging Het
Cela3a T A 4: 137,132,950 (GRCm39) I101F probably damaging Het
Cep170 A T 1: 176,602,028 (GRCm39) D359E probably damaging Het
Chfr T C 5: 110,299,549 (GRCm39) V314A probably benign Het
Clpb T C 7: 101,371,935 (GRCm39) F224L possibly damaging Het
Coro2a T C 4: 46,539,188 (GRCm39) K527R probably benign Het
Cpa5 A G 6: 30,630,856 (GRCm39) T373A possibly damaging Het
Ctsd A T 7: 141,937,149 (GRCm39) probably null Het
Dlx5 G A 6: 6,878,340 (GRCm39) S230F possibly damaging Het
Dlx5 A C 6: 6,878,341 (GRCm39) S230A probably benign Het
Dmc1 G T 15: 79,486,621 (GRCm39) S11* probably null Het
Dnah1 G A 14: 31,037,079 (GRCm39) Q256* probably null Het
Dnah3 A G 7: 119,660,135 (GRCm39) F846L probably damaging Het
Dnah5 A T 15: 28,302,596 (GRCm39) I1618F probably damaging Het
Emsy A G 7: 98,279,538 (GRCm39) V267A possibly damaging Het
Fgfr3 GGACCTCTCCGTG GG 5: 33,892,766 (GRCm39) probably null Het
Frem1 T C 4: 82,924,007 (GRCm39) I317M probably damaging Het
G6pc1 C A 11: 101,267,520 (GRCm39) Y323* probably null Het
Gm5114 A G 7: 39,058,489 (GRCm39) C377R possibly damaging Het
Gm7361 C A 5: 26,466,188 (GRCm39) H183Q probably benign Het
Hmbox1 A G 14: 65,134,126 (GRCm39) V158A possibly damaging Het
Hmg20a A G 9: 56,396,227 (GRCm39) R340G unknown Het
Ifi206 T A 1: 173,309,607 (GRCm39) I130F Het
Ifnb1 T C 4: 88,440,911 (GRCm39) N34S probably benign Het
Il16 T C 7: 83,323,702 (GRCm39) K283E probably damaging Het
Mettl14 A G 3: 123,168,503 (GRCm39) I179T probably benign Het
Mpped1 G A 15: 83,684,251 (GRCm39) R91H probably damaging Het
Nop2 C A 6: 125,121,171 (GRCm39) P651Q possibly damaging Het
Or5p62 A G 7: 107,771,007 (GRCm39) *315Q probably null Het
Phkg1 G A 5: 129,902,109 (GRCm39) Q89* probably null Het
Phykpl T A 11: 51,482,285 (GRCm39) V133E probably damaging Het
Polr3gl A T 3: 96,487,137 (GRCm39) Y183N probably benign Het
Rab13 A G 3: 90,132,840 (GRCm39) T187A probably benign Het
Ripor2 A G 13: 24,877,755 (GRCm39) M252V probably damaging Het
Sec61a2 T C 2: 5,882,725 (GRCm39) N186S probably benign Het
Serpinb5 T C 1: 106,800,119 (GRCm39) probably null Het
Serpine3 G A 14: 62,902,476 (GRCm39) W29* probably null Het
Sh2b3 T C 5: 121,956,536 (GRCm39) R382G probably damaging Het
Slc66a1 T A 4: 139,033,823 (GRCm39) D32V probably damaging Het
Slc7a5 A G 8: 122,610,461 (GRCm39) L451P probably damaging Het
Slco1a5 T C 6: 142,208,257 (GRCm39) probably null Het
Tep1 G A 14: 51,091,047 (GRCm39) A695V probably damaging Het
Tnik T C 3: 28,684,743 (GRCm39) V857A possibly damaging Het
Trdn A T 10: 33,072,097 (GRCm39) M255L probably benign Het
Tsc22d4 G A 5: 137,745,985 (GRCm39) S203N probably benign Het
Tsfm T C 10: 126,858,417 (GRCm39) E316G possibly damaging Het
Tvp23b T C 11: 62,770,289 (GRCm39) probably benign Het
Vgf C A 5: 137,061,099 (GRCm39) D420E probably damaging Het
Zan G A 5: 137,462,618 (GRCm39) P854S probably benign Het
Zfp831 T C 2: 174,485,816 (GRCm39) S164P possibly damaging Het
Other mutations in Maf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Maf APN 8 116,432,702 (GRCm39) missense probably damaging 1.00
R0279:Maf UTSW 8 116,432,495 (GRCm39) missense possibly damaging 0.65
R1529:Maf UTSW 8 116,419,909 (GRCm39) missense probably benign 0.00
R4177:Maf UTSW 8 116,433,210 (GRCm39) nonsense probably null
R4435:Maf UTSW 8 116,433,592 (GRCm39) missense unknown
R4941:Maf UTSW 8 116,433,532 (GRCm39) missense unknown
R5855:Maf UTSW 8 116,432,531 (GRCm39) missense probably benign 0.28
R6718:Maf UTSW 8 116,433,539 (GRCm39) missense unknown
R8399:Maf UTSW 8 116,433,251 (GRCm39) missense unknown
R8788:Maf UTSW 8 116,432,612 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CACAATTTGTGTTGCTCAGGAG -3'
(R):5'- AGACACATCTTCTGGCTTGG -3'

Sequencing Primer
(F):5'- CAATTTGTGTTGCTCAGGAGATACTG -3'
(R):5'- CTTGGTAGGGCTGTGACCAC -3'
Posted On 2019-10-17