Incidental Mutation 'R4435:Maf'
ID 329486
Institutional Source Beutler Lab
Gene Symbol Maf
Ensembl Gene ENSMUSG00000055435
Gene Name MAF bZIP transcription factor
Synonyms A230108G15Rik, 2810401A20Rik, c-maf
MMRRC Submission 041149-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.774) question?
Stock # R4435 (G1)
Quality Score 190
Status Not validated
Chromosome 8
Chromosomal Location 116429992-116433633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116433592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 4 (E4V)
Ref Sequence ENSEMBL: ENSMUSP00000104732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069009] [ENSMUST00000109104]
AlphaFold P54843
Predicted Effect unknown
Transcript: ENSMUST00000069009
AA Change: E4V
SMART Domains Protein: ENSMUSP00000067704
Gene: ENSMUSG00000055435
AA Change: E4V

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: E4V
SMART Domains Protein: ENSMUSP00000104732
Gene: ENSMUSG00000055435
AA Change: E4V

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A C 12: 113,454,281 (GRCm39) Q366P probably damaging Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Ank3 C T 10: 69,822,900 (GRCm39) S523L probably damaging Het
Arap1 C A 7: 101,039,461 (GRCm39) R574S possibly damaging Het
Arhgap25 T C 6: 87,439,920 (GRCm39) I576V possibly damaging Het
Ascc3 T A 10: 50,597,981 (GRCm39) V1283D probably benign Het
Asnsd1 A T 1: 53,387,232 (GRCm39) probably null Het
Asrgl1 C T 19: 9,096,563 (GRCm39) V125I probably damaging Het
Bccip A G 7: 133,320,942 (GRCm39) R239G probably benign Het
Cdyl T C 13: 36,042,233 (GRCm39) probably null Het
Cyfip1 T C 7: 55,549,789 (GRCm39) I650T probably damaging Het
Dennd4c C A 4: 86,716,312 (GRCm39) Q506K probably benign Het
Fam135b T C 15: 71,320,588 (GRCm39) D1313G probably damaging Het
Fam169a A G 13: 97,263,248 (GRCm39) D567G probably damaging Het
Gm5134 T G 10: 75,831,658 (GRCm39) S366A probably damaging Het
Gm5849 T A 3: 90,685,182 (GRCm39) K1M probably null Het
Gpn3 A G 5: 122,520,115 (GRCm39) D223G probably benign Het
Hk1 A G 10: 62,111,623 (GRCm39) Y713H probably damaging Het
Ifih1 A G 2: 62,476,234 (GRCm39) L14P probably damaging Het
Kmt2c A T 5: 25,519,875 (GRCm39) N2078K possibly damaging Het
Mbtd1 T A 11: 93,823,048 (GRCm39) D489E probably benign Het
Myrip C T 9: 120,164,680 (GRCm39) probably benign Het
Nedd4l A G 18: 65,345,896 (GRCm39) D816G possibly damaging Het
Nwd1 T C 8: 73,414,764 (GRCm39) V934A possibly damaging Het
Or2a12 T A 6: 42,905,023 (GRCm39) I286N probably damaging Het
Or5ae1 A G 7: 84,565,229 (GRCm39) M81V probably benign Het
Psd A T 19: 46,302,933 (GRCm39) I158N probably damaging Het
Ptprq A G 10: 107,520,916 (GRCm39) V752A possibly damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Senp2 T A 16: 21,832,991 (GRCm39) V93E possibly damaging Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Slc38a4 T C 15: 96,906,899 (GRCm39) S280G probably benign Het
Sos2 T C 12: 69,661,473 (GRCm39) E666G possibly damaging Het
Strip2 T C 6: 29,925,049 (GRCm39) V129A probably benign Het
Tsc2 G A 17: 24,818,687 (GRCm39) P1450L probably benign Het
Ttn T C 2: 76,747,219 (GRCm39) E4610G probably benign Het
Uimc1 T C 13: 55,223,636 (GRCm39) E212G probably damaging Het
Zc3h18 T C 8: 123,140,691 (GRCm39) probably null Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S 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
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
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'- AGTAGTAGTCTTCCAGGTGCGC -3'
(R):5'- GTGTGCACGTTCGAGCTTTC -3'

Sequencing Primer
(F):5'- CAGGTGCGCCTTCTGTTCG -3'
(R):5'- TTCGAGCTTTCGGGCCAC -3'
Posted On 2015-07-21