Incidental Mutation 'IGL02372:Myc'
ID 290961
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myc
Ensembl Gene ENSMUSG00000022346
Gene Name myelocytomatosis oncogene
Synonyms Niard, Myc2, bHLHe39, Nird, c-myc
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02372
Quality Score
Status
Chromosome 15
Chromosomal Location 61857240-61862223 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61859707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 127 (N127D)
Ref Sequence ENSEMBL: ENSMUSP00000141139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022971] [ENSMUST00000159327] [ENSMUST00000159338] [ENSMUST00000160009] [ENSMUST00000161976] [ENSMUST00000167731] [ENSMUST00000191178] [ENSMUST00000188482]
AlphaFold P01108
Predicted Effect probably damaging
Transcript: ENSMUST00000022971
AA Change: N128D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022971
Gene: ENSMUSG00000022346
AA Change: N128D

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: N113D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124758
Gene: ENSMUSG00000022346
AA Change: N113D

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: N113D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123852
Gene: ENSMUSG00000022346
AA Change: N113D

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: N113D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123821
Gene: ENSMUSG00000022346
AA Change: N113D

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: N127D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130285
Gene: ENSMUSG00000022346
AA Change: N127D

DomainStartEndE-ValueType
Pfam:Myc_N 15 359 1.5e-141 PFAM
HLH 374 426 2.3e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191178
AA Change: N127D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141139
Gene: ENSMUSG00000022346
AA Change: N127D

DomainStartEndE-ValueType
Pfam:Myc_N 15 359 1.9e-141 PFAM
HLH 374 426 2.3e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188482
AA Change: N128D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140183
Gene: ENSMUSG00000022346
AA Change: N128D

DomainStartEndE-ValueType
Pfam:Myc_N 16 360 1.5e-141 PFAM
HLH 375 427 2.3e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192740
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alyref A G 11: 120,485,701 (GRCm39) probably benign Het
Ankrd27 A G 7: 35,332,461 (GRCm39) probably null Het
Arc A G 15: 74,543,954 (GRCm39) S90P probably damaging Het
Atp6v1e1 T A 6: 120,778,084 (GRCm39) K150N probably benign Het
Atrn T C 2: 130,844,674 (GRCm39) probably benign Het
Ccnb1 A G 13: 100,917,824 (GRCm39) Y259H probably damaging Het
Celsr1 A G 15: 85,814,108 (GRCm39) V1938A probably benign Het
Ckmt2 A G 13: 92,013,343 (GRCm39) V37A probably benign Het
Dpys G T 15: 39,656,667 (GRCm39) P467T probably benign Het
Ehbp1l1 T C 19: 5,760,862 (GRCm39) T1535A possibly damaging Het
Eif4enif1 T C 11: 3,179,986 (GRCm39) L302P probably benign Het
Faf1 T G 4: 109,792,779 (GRCm39) F584V probably benign Het
Glb1l2 G A 9: 26,707,772 (GRCm39) R72C probably damaging Het
Gm9892 T C 8: 52,649,871 (GRCm39) noncoding transcript Het
Hecw1 G T 13: 14,438,706 (GRCm39) D892E probably damaging Het
Hr A G 14: 70,795,790 (GRCm39) E474G possibly damaging Het
Ltbp1 T G 17: 75,559,401 (GRCm39) F297V probably damaging Het
Nbn T A 4: 15,986,613 (GRCm39) N671K probably benign Het
Nup210l C A 3: 90,109,278 (GRCm39) T1607N possibly damaging Het
Or8s8 A T 15: 98,354,709 (GRCm39) T173S probably damaging Het
Osbpl1a T A 18: 12,974,370 (GRCm39) K22* probably null Het
Phf20l1 T C 15: 66,513,650 (GRCm39) L942P probably damaging Het
Plekhg5 C T 4: 152,186,537 (GRCm39) R40W probably damaging Het
Pomt2 C T 12: 87,169,609 (GRCm39) probably benign Het
Rab3gap1 A G 1: 127,847,298 (GRCm39) probably benign Het
Sbk1 T C 7: 125,890,230 (GRCm39) L81P probably damaging Het
Scrib G A 15: 75,920,104 (GRCm39) P1524S probably damaging Het
Smpdl3a T A 10: 57,683,611 (GRCm39) N240K probably benign Het
Smyd4 A T 11: 75,281,111 (GRCm39) K195* probably null Het
Spmap1 A T 11: 97,666,525 (GRCm39) Y54N probably damaging Het
Tulp3 A T 6: 128,304,561 (GRCm39) M231K possibly damaging Het
Zfp87 A G 13: 67,668,739 (GRCm39) probably benign Het
Other mutations in Myc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Myc APN 15 61,861,669 (GRCm39) missense probably benign 0.03
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
R9729:Myc UTSW 15 61,859,935 (GRCm39) missense probably damaging 0.99
RF020:Myc UTSW 15 61,857,672 (GRCm39) unclassified probably benign
Posted On 2015-04-16