Incidental Mutation 'R1691:Max'
ID 191817
Institutional Source Beutler Lab
Gene Symbol Max
Ensembl Gene ENSMUSG00000059436
Gene Name Max protein
Synonyms bHLHd5, bHLHd4, bHLHd6, bHLHd7, bHLHd8
MMRRC Submission 039724-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1691 (G1)
Quality Score 216
Status Not validated
Chromosome 12
Chromosomal Location 76984043-77008975 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77000046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 23 (D23G)
Ref Sequence ENSEMBL: ENSMUSP00000106025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082136] [ENSMUST00000110395] [ENSMUST00000218640]
AlphaFold P28574
Predicted Effect possibly damaging
Transcript: ENSMUST00000082136
AA Change: D14G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080778
Gene: ENSMUSG00000059436
AA Change: D14G

DomainStartEndE-ValueType
HLH 20 71 1.56e-16 SMART
low complexity region 126 140 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110395
AA Change: D23G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106025
Gene: ENSMUSG00000059436
AA Change: D23G

DomainStartEndE-ValueType
HLH 29 80 1.56e-16 SMART
low complexity region 135 149 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218597
Predicted Effect probably benign
Transcript: ENSMUST00000218640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219538
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
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 member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a targeted mutation die between E5.5 and 6.5 displaying a generalized developmental arrest of both embryonic and extraembryonic tissues. These defects are not associated with inappropriate apoptosis, but rather with a failure of cellsto divide. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T C 7: 82,148,814 (GRCm39) S283P probably damaging Het
Adck2 T A 6: 39,551,902 (GRCm39) L223* probably null Het
Ank T C 15: 27,591,030 (GRCm39) W390R probably damaging Het
Ano5 T C 7: 51,240,327 (GRCm39) Y752H probably damaging Het
Apcs T A 1: 172,722,160 (GRCm39) D62V probably damaging Het
Atad5 A G 11: 79,986,358 (GRCm39) T482A probably benign Het
Atp7b A G 8: 22,501,039 (GRCm39) Y955H possibly damaging Het
Ccdc13 A T 9: 121,654,134 (GRCm39) probably null Het
Ccdc157 G A 11: 4,099,030 (GRCm39) P159S probably benign Het
Cdhr3 C T 12: 33,132,246 (GRCm39) V126M probably damaging Het
Cdr1 T C X: 60,227,780 (GRCm39) D462G possibly damaging Het
Cisd1 A G 10: 71,180,559 (GRCm39) V9A probably benign Het
Col19a1 T C 1: 24,576,022 (GRCm39) R107G unknown Het
Col1a2 C A 6: 4,536,038 (GRCm39) H972Q unknown Het
Col3a1 T A 1: 45,387,776 (GRCm39) probably benign Het
Dbnl A G 11: 5,747,174 (GRCm39) S235G probably null Het
Dock4 T A 12: 40,775,754 (GRCm39) S566T probably benign Het
Efcab6 T C 15: 83,817,407 (GRCm39) D722G probably benign Het
Esyt1 T C 10: 128,361,403 (GRCm39) Q97R probably benign Het
Fat2 G A 11: 55,202,678 (GRCm39) T132I probably damaging Het
Fgd2 C T 17: 29,597,918 (GRCm39) Q618* probably null Het
Flnc T A 6: 29,441,213 (GRCm39) V389E probably benign Het
Garnl3 A T 2: 32,887,675 (GRCm39) Y778* probably null Het
Gpaa1 A T 15: 76,216,416 (GRCm39) Y45F probably damaging Het
Grid1 A T 14: 35,174,286 (GRCm39) I643F probably damaging Het
Gsdmc2 T C 15: 63,705,314 (GRCm39) D133G probably damaging Het
Hp T C 8: 110,302,204 (GRCm39) D248G probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifna13 T C 4: 88,562,291 (GRCm39) D111G probably benign Het
Il9r T A 11: 32,141,829 (GRCm39) Q309L possibly damaging Het
Insyn2a C T 7: 134,520,015 (GRCm39) A172T probably damaging Het
Ints1 A T 5: 139,754,687 (GRCm39) D617E probably damaging Het
Kcnj12 A T 11: 60,961,103 (GRCm39) N467I possibly damaging Het
Kmt2e T A 5: 23,669,847 (GRCm39) D111E probably damaging Het
Lama4 A G 10: 38,956,559 (GRCm39) K1161E probably benign Het
Lamc1 C T 1: 153,122,995 (GRCm39) D732N probably benign Het
Larp1 A G 11: 57,938,874 (GRCm39) T517A probably benign Het
Lrp12 A G 15: 39,735,661 (GRCm39) I757T probably damaging Het
Nars1 A T 18: 64,649,485 (GRCm39) probably null Het
Nipsnap3a G A 4: 52,994,185 (GRCm39) D91N probably null Het
Nphp3 A G 9: 103,880,010 (GRCm39) T11A probably benign Het
Nr2c2 C A 6: 92,133,673 (GRCm39) T226K probably damaging Het
Nrxn1 A G 17: 90,469,717 (GRCm39) I1288T probably damaging Het
Nt5c1b C T 12: 10,425,537 (GRCm39) T360I possibly damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or10a3b A G 7: 108,444,348 (GRCm39) Y290H possibly damaging Het
Or13a21 A T 7: 139,998,855 (GRCm39) L277Q probably damaging Het
Or4e1 A T 14: 52,701,288 (GRCm39) H59Q possibly damaging Het
Or4k37 G A 2: 111,159,198 (GRCm39) V145I probably benign Het
Or6d14 A G 6: 116,533,538 (GRCm39) T51A probably benign Het
Or9i1b C T 19: 13,896,783 (GRCm39) T133I probably benign Het
Pcsk1 A G 13: 75,280,344 (GRCm39) D723G possibly damaging Het
Phrf1 C A 7: 140,841,787 (GRCm39) Y715* probably null Het
Pigm T C 1: 172,204,354 (GRCm39) V30A probably benign Het
Pkd1l2 A T 8: 117,783,158 (GRCm39) F721I possibly damaging Het
Pla2g15 A G 8: 106,881,581 (GRCm39) D70G possibly damaging Het
Prl7d1 A T 13: 27,893,365 (GRCm39) I182N probably damaging Het
Prss23 T C 7: 89,159,922 (GRCm39) K49R probably benign Het
Rps6 A T 4: 86,775,046 (GRCm39) D19E probably benign Het
Slco6d1 A T 1: 98,435,292 (GRCm39) H669L probably benign Het
Svil G T 18: 5,056,336 (GRCm39) C490F probably benign Het
Tom1 T C 8: 75,778,227 (GRCm39) I103T probably damaging Het
Trim10 T A 17: 37,187,791 (GRCm39) Y336N probably damaging Het
Trim43c G T 9: 88,722,752 (GRCm39) V133F probably damaging Het
Tvp23a A G 16: 10,246,551 (GRCm39) L78P possibly damaging Het
Ugt2b38 T A 5: 87,571,991 (GRCm39) I14L probably benign Het
Unc5a A C 13: 55,150,737 (GRCm39) M520L probably damaging Het
Vmn1r174 T A 7: 23,453,337 (GRCm39) M1K probably null Het
Vmn2r58 C T 7: 41,486,913 (GRCm39) G661R possibly damaging Het
Vps41 A C 13: 19,025,413 (GRCm39) D471A probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp462 T A 4: 55,013,489 (GRCm39) F1818L possibly damaging Het
Zp3 G A 5: 136,009,135 (GRCm39) E50K possibly damaging Het
Other mutations in Max
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Max APN 12 76,985,404 (GRCm39) missense probably damaging 1.00
R0304:Max UTSW 12 76,985,361 (GRCm39) missense probably benign 0.00
R1658:Max UTSW 12 76,985,355 (GRCm39) missense probably benign 0.08
R7477:Max UTSW 12 76,999,960 (GRCm39) missense probably benign 0.01
R7863:Max UTSW 12 76,986,848 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCACAAGAGAAATTCCCACAGAGG -3'
(R):5'- CATGAGCTGGAGTCATCGTGCTAC -3'

Sequencing Primer
(F):5'- ttcaagcccagcactacc -3'
(R):5'- GATGTTCCTGTTGCAAGCC -3'
Posted On 2014-05-14