Incidental Mutation 'R1658:Max'
ID 186545
Institutional Source Beutler Lab
Gene Symbol Max
Ensembl Gene ENSMUSG00000059436
Gene Name Max protein
Synonyms bHLHd5, bHLHd4, bHLHd6, bHLHd7, bHLHd8
MMRRC Submission 039694-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1658 (G1)
Quality Score 170
Status Not validated
Chromosome 12
Chromosomal Location 76984043-77008975 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76985355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 121 (M121K)
Ref Sequence ENSEMBL: ENSMUSP00000151710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082136] [ENSMUST00000110395] [ENSMUST00000218640] [ENSMUST00000218653]
AlphaFold P28574
Predicted Effect probably benign
Transcript: ENSMUST00000082136
AA Change: M148K

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000080778
Gene: ENSMUSG00000059436
AA Change: M148K

DomainStartEndE-ValueType
HLH 20 71 1.56e-16 SMART
low complexity region 126 140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110395
AA Change: M157K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106025
Gene: ENSMUSG00000059436
AA Change: M157K

DomainStartEndE-ValueType
HLH 29 80 1.56e-16 SMART
low complexity region 135 149 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218597
Predicted Effect probably benign
Transcript: ENSMUST00000218640
AA Change: M121K

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000218653
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T G 5: 129,255,164 (GRCm39) S604A probably benign Het
Apbb1 G A 7: 105,223,291 (GRCm39) P107S probably damaging Het
Baz2a T A 10: 127,960,252 (GRCm39) M1489K probably benign Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdca2 A G 14: 67,915,148 (GRCm39) S704P possibly damaging Het
Cemip2 T C 19: 21,779,243 (GRCm39) V351A probably damaging Het
Chfr T C 5: 110,301,035 (GRCm39) I312T probably damaging Het
Csmd1 A G 8: 16,131,739 (GRCm39) V1662A possibly damaging Het
Dgkd T A 1: 87,853,990 (GRCm39) L611Q probably damaging Het
Dicer1 A G 12: 104,666,673 (GRCm39) V1376A probably benign Het
Elp2 C T 18: 24,750,470 (GRCm39) T269M probably benign Het
Ephb6 T A 6: 41,591,179 (GRCm39) V112E probably damaging Het
Fbxo11 A T 17: 88,320,086 (GRCm39) Y209N probably benign Het
Frem1 C T 4: 82,920,045 (GRCm39) R437Q probably damaging Het
G6pc2 A T 2: 69,057,413 (GRCm39) K353M probably damaging Het
Gabbr1 A G 17: 37,358,399 (GRCm39) T46A probably damaging Het
Gbp9 T A 5: 105,242,334 (GRCm39) Q135L probably damaging Het
Gstp1 A T 19: 4,087,375 (GRCm39) M20K probably damaging Het
Heatr6 A G 11: 83,649,193 (GRCm39) R183G probably damaging Het
Ints11 A G 4: 155,972,185 (GRCm39) K397E probably damaging Het
Intu A G 3: 40,647,211 (GRCm39) T695A probably benign Het
Kif21b T C 1: 136,099,023 (GRCm39) V1437A probably damaging Het
Klhl24 T A 16: 19,925,842 (GRCm39) Y123* probably null Het
Lipm C T 19: 34,093,847 (GRCm39) L255F probably benign Het
Mga A T 2: 119,772,170 (GRCm39) I1677L possibly damaging Het
Msantd1 C A 5: 35,078,905 (GRCm39) L147M probably damaging Het
Msantd1 T A 5: 35,078,906 (GRCm39) L147Q probably benign Het
Mylk4 T C 13: 32,896,772 (GRCm39) D363G possibly damaging Het
Naaa T C 5: 92,420,300 (GRCm39) probably null Het
Ninl A G 2: 150,806,079 (GRCm39) Y381H probably damaging Het
Nwd2 A G 5: 63,964,589 (GRCm39) N1391S probably damaging Het
Or6k8-ps1 G A 1: 173,979,789 (GRCm39) A236T probably damaging Het
Or8g18 C T 9: 39,149,255 (GRCm39) C155Y probably benign Het
Phip A G 9: 82,753,551 (GRCm39) V1731A probably benign Het
Plxnb1 T A 9: 108,931,939 (GRCm39) C488* probably null Het
Rgs7 T C 1: 174,907,120 (GRCm39) I374V probably benign Het
Rin2 A T 2: 145,718,376 (GRCm39) M574L probably benign Het
Rps18 A T 17: 34,171,392 (GRCm39) D92E probably benign Het
Scrn1 T A 6: 54,497,791 (GRCm39) I267L probably benign Het
Stard9 T C 2: 120,532,023 (GRCm39) V67A probably benign Het
Syne1 T G 10: 5,317,616 (GRCm39) M493L probably benign Het
Tbc1d2 G A 4: 46,614,207 (GRCm39) R625C probably damaging Het
Tcerg1l A G 7: 137,995,909 (GRCm39) S200P probably damaging Het
Tet3 A T 6: 83,346,039 (GRCm39) V1331E probably benign Het
Ticrr A T 7: 79,345,297 (GRCm39) I1721F possibly damaging Het
Tjp2 T C 19: 24,090,311 (GRCm39) D577G probably damaging Het
Tmem38b A G 4: 53,840,713 (GRCm39) M43V probably benign Het
Trabd T A 15: 88,970,069 (GRCm39) probably null Het
Trpv5 C A 6: 41,651,216 (GRCm39) D277Y probably damaging Het
Tubb1 A C 2: 174,298,416 (GRCm39) D67A probably damaging Het
Ubxn7 A G 16: 32,200,054 (GRCm39) probably null Het
Ugp2 G A 11: 21,283,774 (GRCm39) P98S probably benign Het
Vmn2r66 G T 7: 84,656,955 (GRCm39) P150Q probably benign Het
Zbtb11 A T 16: 55,794,588 (GRCm39) H55L 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
R1691:Max UTSW 12 77,000,046 (GRCm39) missense possibly damaging 0.94
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'- AGCTGTTGTCCAAGAGCTTCTATGC -3'
(R):5'- GGAAGGGAATGACTTCTGAGCCAC -3'

Sequencing Primer
(F):5'- TCCAAGAGCTTCTATGCAAAAATAAC -3'
(R):5'- AAGGTGGTAACATGCTCCC -3'
Posted On 2014-05-09