Incidental Mutation 'R6718:Maf'
ID 529463
Institutional Source Beutler Lab
Gene Symbol Maf
Ensembl Gene ENSMUSG00000055435
Gene Name MAF bZIP transcription factor
Synonyms A230108G15Rik, 2810401A20Rik, c-maf
MMRRC Submission 044836-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.648) question?
Stock # R6718 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 116429992-116433633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 116433539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 22 (V22F)
Ref Sequence ENSEMBL: ENSMUSP00000104732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069009] [ENSMUST00000109104]
AlphaFold P54843
Predicted Effect unknown
Transcript: ENSMUST00000069009
AA Change: V22F
SMART Domains Protein: ENSMUSP00000067704
Gene: ENSMUSG00000055435
AA Change: V22F

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
Predicted Effect unknown
Transcript: ENSMUST00000109104
AA Change: V22F
SMART Domains Protein: ENSMUSP00000104732
Gene: ENSMUSG00000055435
AA Change: V22F

DomainStartEndE-ValueType
low complexity region 54 82 N/A INTRINSIC
Pfam:Maf_N 86 120 9.3e-24 PFAM
low complexity region 134 154 N/A INTRINSIC
low complexity region 160 253 N/A INTRINSIC
BRLZ 281 347 8.4e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134649
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,554,346 (GRCm39) T452I probably damaging Het
Asb8 A G 15: 98,034,015 (GRCm39) I180T probably benign Het
Cdh18 A G 15: 23,226,835 (GRCm39) T45A probably benign Het
Col12a1 T A 9: 79,606,887 (GRCm39) Y512F probably damaging Het
Col6a1 A G 10: 76,560,884 (GRCm39) F38S probably damaging Het
Hoxc5 A G 15: 102,922,698 (GRCm39) probably null Het
Kmt2d TATGCTGCTG TATGCTGCTGATGCTGCTG 15: 98,747,467 (GRCm39) probably benign Het
Kmt2d C T 15: 98,748,420 (GRCm39) probably benign Het
Lrp2 G T 2: 69,314,124 (GRCm39) H2202Q probably benign Het
Mrgpra3 C T 7: 47,239,444 (GRCm39) V161M probably benign Het
Or7g33 G T 9: 19,448,495 (GRCm39) H244N probably damaging Het
Otx1 T C 11: 21,946,412 (GRCm39) probably benign Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pex11a A G 7: 79,387,230 (GRCm39) F201L probably benign Het
Pigu A G 2: 155,143,206 (GRCm39) Y232H possibly damaging Het
Pms2 T C 5: 143,860,307 (GRCm39) I40T probably damaging Het
Pura A G 18: 36,420,696 (GRCm39) N161S probably damaging Het
Ranbp10 A G 8: 106,501,260 (GRCm39) V330A possibly damaging Het
Slc30a9 T C 5: 67,490,443 (GRCm39) V218A probably damaging Het
Spindoc C T 19: 7,335,781 (GRCm39) V336I probably damaging Het
Tmprss9 A G 10: 80,726,198 (GRCm39) T483A probably benign 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
R7499:Maf UTSW 8 116,419,920 (GRCm39) missense probably benign 0.01
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'- AGTAGTAGTCTTCCAGGTGCG -3'
(R):5'- GTGTGCACGTTCGAGCTTTC -3'

Sequencing Primer
(F):5'- CAGGTGCGCCTTCTGTTCG -3'
(R):5'- TTCGAGCTTTCGGGCCAC -3'
Posted On 2018-08-01