Incidental Mutation 'R9729:Myc'
ID 731257
Institutional Source Beutler Lab
Gene Symbol Myc
Ensembl Gene ENSMUSG00000022346
Gene Name myelocytomatosis oncogene
Synonyms Niard, Myc2, bHLHe39, Nird, c-myc
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9729 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 61857240-61862223 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 61859935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 204 (C204G)
Ref Sequence ENSEMBL: ENSMUSP00000022971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022971] [ENSMUST00000159327] [ENSMUST00000159338] [ENSMUST00000160009] [ENSMUST00000161976] [ENSMUST00000167731] [ENSMUST00000188482] [ENSMUST00000191178]
AlphaFold P01108
Predicted Effect probably damaging
Transcript: ENSMUST00000022971
AA Change: C204G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022971
Gene: ENSMUSG00000022346
AA Change: C204G

DomainStartEndE-ValueType
Pfam:Myc_N 16 360 7e-118 PFAM
HLH 375 427 2.3e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159327
AA Change: C189G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124758
Gene: ENSMUSG00000022346
AA Change: C189G

DomainStartEndE-ValueType
Pfam:Myc_N 1 345 1.4e-141 PFAM
HLH 360 412 2.3e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159338
Predicted Effect probably damaging
Transcript: ENSMUST00000160009
AA Change: C189G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123852
Gene: ENSMUSG00000022346
AA Change: C189G

DomainStartEndE-ValueType
Pfam:Myc_N 1 345 1.4e-141 PFAM
HLH 360 412 2.3e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161976
AA Change: C189G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123821
Gene: ENSMUSG00000022346
AA Change: C189G

DomainStartEndE-ValueType
Pfam:Myc_N 1 345 1.4e-141 PFAM
HLH 360 412 2.3e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167731
AA Change: C203G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130285
Gene: ENSMUSG00000022346
AA Change: C203G

DomainStartEndE-ValueType
Pfam:Myc_N 15 359 1.5e-141 PFAM
HLH 374 426 2.3e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188482
AA Change: C204G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140183
Gene: ENSMUSG00000022346
AA Change: C204G

DomainStartEndE-ValueType
Pfam:Myc_N 16 360 1.5e-141 PFAM
HLH 375 427 2.3e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191178
AA Change: C203G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141139
Gene: ENSMUSG00000022346
AA Change: C203G

DomainStartEndE-ValueType
Pfam:Myc_N 15 359 1.9e-141 PFAM
HLH 374 426 2.3e-14 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. It functions as a transcription factor that regulates transcription of specific target genes. Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma, in human. There is evidence to show that alternative translation initiations from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site result in the production of two isoforms with distinct N-termini, in human and mouse. Under conditions of stress, such as high cell densities and methionine deprivation, there is a specific and dramatic increase in the synthesis of the non-AUG initiated protein, suggesting its importance in times of adversity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mutations affect growth and development of heart, pericardium, neural tube, vasculogenesis and erythropoeisis. Homozygous null mutants die by embryonic day 10.5. Heterozygotes have reduced body size and multiorgan hypoplasia; females have small litters. [provided by MGI curators]
Allele List at MGI

All alleles(23) : Targeted(19) Gene trapped(4)          

Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A T 13: 54,700,519 (GRCm39) M273K probably benign Het
Aar2 A G 2: 156,393,361 (GRCm39) D250G probably benign Het
Acly T A 11: 100,407,711 (GRCm39) Y213F probably benign Het
Adgrg5 G A 8: 95,668,133 (GRCm39) M399I Het
Adhfe1 T C 1: 9,623,634 (GRCm39) L95P probably damaging Het
Ano7 G A 1: 93,322,180 (GRCm39) C396Y probably damaging Het
Apob T A 12: 8,066,125 (GRCm39) Y4365N probably damaging Het
Arfgap3 C T 15: 83,192,366 (GRCm39) R411H probably damaging Het
Bbs7 T C 3: 36,661,818 (GRCm39) Y127C probably damaging Het
Cadps2 T C 6: 23,382,982 (GRCm39) T793A probably benign Het
Casp8ap2 T A 4: 32,643,807 (GRCm39) V960E possibly damaging Het
Cd200l1 G T 16: 45,264,237 (GRCm39) T107N possibly damaging Het
Cdkl3 A G 11: 51,895,770 (GRCm39) T6A probably benign Het
Cdkn2aip T C 8: 48,166,654 (GRCm39) D51G probably benign Het
Cdpf1 G T 15: 85,692,527 (GRCm39) S52* probably null Het
Celf5 T A 10: 81,303,925 (GRCm39) D177V probably damaging Het
Cep164 A G 9: 45,682,897 (GRCm39) V931A probably damaging Het
Cog6 T C 3: 52,900,907 (GRCm39) D457G probably damaging Het
Col4a2 G T 8: 11,496,157 (GRCm39) V1593L probably benign Het
Dlg5 C G 14: 24,204,681 (GRCm39) M1287I probably benign Het
Dmrt1 T C 19: 25,523,362 (GRCm39) S238P probably benign Het
Dpysl2 A G 14: 67,099,927 (GRCm39) M103T probably benign Het
Emsy C A 7: 98,262,256 (GRCm39) A608S probably benign Het
Entr1 A G 2: 26,278,645 (GRCm39) F21S unknown Het
Entrep2 C T 7: 64,806,056 (GRCm39) G6S probably benign Het
Exoc5 A T 14: 49,253,086 (GRCm39) C576S probably damaging Het
F830016B08Rik G A 18: 60,433,558 (GRCm39) V214M possibly damaging Het
Fignl1 A G 11: 11,752,219 (GRCm39) S279P probably benign Het
Gimap1 A G 6: 48,719,386 (GRCm39) R71G unknown Het
Gm26727 A T 2: 67,263,263 (GRCm39) M88K probably damaging Het
Gm45861 T A 8: 28,045,436 (GRCm39) W1066R unknown Het
Gpr15 A G 16: 58,538,249 (GRCm39) L280S possibly damaging Het
Grin1 C T 2: 25,187,422 (GRCm39) W629* probably null Het
Grk5 C T 19: 61,078,467 (GRCm39) P508L possibly damaging Het
Hgf A T 5: 16,766,029 (GRCm39) D55V probably damaging Het
Hipk1 T A 3: 103,668,890 (GRCm39) D502V probably damaging Het
Kmt2c T C 5: 25,489,758 (GRCm39) K4394E probably damaging Het
Llgl2 A G 11: 115,740,467 (GRCm39) T388A probably damaging Het
Lsm14a G T 7: 34,088,898 (GRCm39) S2R probably damaging Het
Madd A T 2: 91,000,544 (GRCm39) M507K possibly damaging Het
Map2k3 G T 11: 60,837,472 (GRCm39) V191L Het
Mapk8ip1 A G 2: 92,217,060 (GRCm39) S421P probably damaging Het
Marchf7 C T 2: 60,064,785 (GRCm39) R354* probably null Het
Nampt A G 12: 32,900,528 (GRCm39) H491R possibly damaging Het
Noct C T 3: 51,157,267 (GRCm39) Q202* probably null Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or10b1 T A 10: 78,355,949 (GRCm39) F169Y probably damaging Het
Osbpl10 G A 9: 115,052,804 (GRCm39) V451M probably damaging Het
Osr2 T A 15: 35,303,061 (GRCm39) F312Y probably benign Het
Parp16 A T 9: 65,137,097 (GRCm39) I108F possibly damaging Het
Parp4 A G 14: 56,885,888 (GRCm39) T1656A unknown Het
Pnpla8 A G 12: 44,330,657 (GRCm39) I374V probably benign Het
Prss23 T C 7: 89,159,931 (GRCm39) N46S probably benign Het
Ptger2 T C 14: 45,226,476 (GRCm39) W19R possibly damaging Het
Rbl2 T C 8: 91,805,527 (GRCm39) S195P probably damaging Het
Rnf169 C T 7: 99,575,477 (GRCm39) V373I probably damaging Het
Sclt1 C A 3: 41,629,837 (GRCm39) E325* probably null Het
Sergef C T 7: 46,284,913 (GRCm39) S43N probably benign Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,777 (GRCm39) probably benign Het
Slc3a2 T C 19: 8,685,370 (GRCm39) D472G probably damaging Het
Slc43a3 T C 2: 84,780,800 (GRCm39) F342L probably benign Het
Slc44a4 A T 17: 35,140,670 (GRCm39) I288F probably benign Het
Snupn T A 9: 56,877,915 (GRCm39) N151K possibly damaging Het
Srbd1 A T 17: 86,437,550 (GRCm39) D264E probably benign Het
Srpra A T 9: 35,125,569 (GRCm39) T378S probably benign Het
Stat4 A G 1: 52,141,762 (GRCm39) D613G possibly damaging Het
Sycp2l C T 13: 41,326,132 (GRCm39) P246L Het
Tcf20 T C 15: 82,736,037 (GRCm39) R1805G probably benign Het
Tob1 T A 11: 94,104,880 (GRCm39) F139I probably damaging Het
Traj9 A G 14: 54,446,871 (GRCm39) T8A unknown Het
Trank1 G T 9: 111,220,537 (GRCm39) D2425Y probably damaging Het
Ttn G A 2: 76,738,071 (GRCm39) S4202L unknown Het
Ttn A T 2: 76,577,267 (GRCm39) M24542K probably damaging Het
Vcam1 T C 3: 115,911,105 (GRCm39) Y431C probably damaging Het
Vcpkmt G A 12: 69,627,936 (GRCm39) R175C probably damaging Het
Vmn2r51 A T 7: 9,839,479 (GRCm39) D36E probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp831 T C 2: 174,487,938 (GRCm39) L871P possibly damaging Het
Other mutations in Myc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Myc APN 15 61,861,669 (GRCm39) missense probably benign 0.03
IGL02372:Myc APN 15 61,859,707 (GRCm39) missense probably damaging 1.00
IGL02400:Myc APN 15 61,861,760 (GRCm39) unclassified probably benign
IGL02677:Myc APN 15 61,861,513 (GRCm39) missense probably damaging 1.00
IGL02834:Myc APN 15 61,859,515 (GRCm39) missense probably damaging 1.00
IGL03330:Myc APN 15 61,859,998 (GRCm39) missense probably benign
PIT1430001:Myc UTSW 15 61,859,542 (GRCm39) missense probably damaging 1.00
R1245:Myc UTSW 15 61,859,746 (GRCm39) missense probably damaging 0.96
R2105:Myc UTSW 15 61,859,951 (GRCm39) missense probably damaging 1.00
R4373:Myc UTSW 15 61,861,513 (GRCm39) missense probably damaging 0.99
R6774:Myc UTSW 15 61,860,128 (GRCm39) critical splice donor site probably null
R6813:Myc UTSW 15 61,860,001 (GRCm39) missense probably damaging 1.00
R7371:Myc UTSW 15 61,860,031 (GRCm39) missense probably damaging 0.97
R8376:Myc UTSW 15 61,859,395 (GRCm39) missense possibly damaging 0.94
RF020:Myc UTSW 15 61,857,672 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TCATCCAGGACTGTATGTGGAGC -3'
(R):5'- TTCCTACCCTGCTGTGAATGG -3'

Sequencing Primer
(F):5'- TGGAGCGGTTTCTCAGCC -3'
(R):5'- TAGCTTACCAGAGTCGCTGCTG -3'
Posted On 2022-10-06