Incidental Mutation 'IGL03330:Myc'
ID 416852
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 # IGL03330
Quality Score
Status
Chromosome 15
Chromosomal Location 61857240-61862223 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61859998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 224 (T224A)
Ref Sequence ENSEMBL: ENSMUSP00000141139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022971] [ENSMUST00000159327] [ENSMUST00000159338] [ENSMUST00000160009] [ENSMUST00000161976] [ENSMUST00000167731] [ENSMUST00000188482] [ENSMUST00000191178]
AlphaFold P01108
Predicted Effect probably benign
Transcript: ENSMUST00000022971
AA Change: T225A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022971
Gene: ENSMUSG00000022346
AA Change: T225A

DomainStartEndE-ValueType
Pfam:Myc_N 16 360 7e-118 PFAM
HLH 375 427 2.3e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159327
AA Change: T210A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124758
Gene: ENSMUSG00000022346
AA Change: T210A

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 benign
Transcript: ENSMUST00000160009
AA Change: T210A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123852
Gene: ENSMUSG00000022346
AA Change: T210A

DomainStartEndE-ValueType
Pfam:Myc_N 1 345 1.4e-141 PFAM
HLH 360 412 2.3e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161976
AA Change: T210A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123821
Gene: ENSMUSG00000022346
AA Change: T210A

DomainStartEndE-ValueType
Pfam:Myc_N 1 345 1.4e-141 PFAM
HLH 360 412 2.3e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167731
AA Change: T224A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130285
Gene: ENSMUSG00000022346
AA Change: T224A

DomainStartEndE-ValueType
Pfam:Myc_N 15 359 1.5e-141 PFAM
HLH 374 426 2.3e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188482
AA Change: T225A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140183
Gene: ENSMUSG00000022346
AA Change: T225A

DomainStartEndE-ValueType
Pfam:Myc_N 16 360 1.5e-141 PFAM
HLH 375 427 2.3e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191178
AA Change: T224A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141139
Gene: ENSMUSG00000022346
AA Change: T224A

DomainStartEndE-ValueType
Pfam:Myc_N 15 359 1.9e-141 PFAM
HLH 374 426 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,050,254 (GRCm39) I837V probably damaging Het
Actr2 A G 11: 20,041,330 (GRCm39) V138A probably benign Het
Adam30 G A 3: 98,069,772 (GRCm39) C535Y probably damaging Het
Bcor G A X: 11,925,110 (GRCm39) T162I possibly damaging Het
Catsperd C A 17: 56,939,316 (GRCm39) N48K possibly damaging Het
Ccr2 T C 9: 123,905,996 (GRCm39) I92T probably damaging Het
Cp A G 3: 20,020,599 (GRCm39) I197M probably damaging Het
Cpne3 T A 4: 19,553,774 (GRCm39) T86S possibly damaging Het
Dnm3 A T 1: 162,148,560 (GRCm39) D270E probably benign Het
Enpp1 C T 10: 24,540,804 (GRCm39) probably benign Het
Ephx1 A G 1: 180,827,371 (GRCm39) V94A possibly damaging Het
Fbxw25 T C 9: 109,474,307 (GRCm39) M448V probably benign Het
Fhl2 A G 1: 43,192,351 (GRCm39) L14P probably damaging Het
Gabra4 T C 5: 71,798,407 (GRCm39) R191G probably null Het
Gtpbp6 T C 5: 110,254,929 (GRCm39) T151A possibly damaging Het
Lars1 T A 18: 42,353,009 (GRCm39) M803L probably benign Het
Noxa1 T A 2: 24,980,526 (GRCm39) D161V possibly damaging Het
Or2w3b A C 11: 58,623,745 (GRCm39) L82R probably damaging Het
Or4l1 C T 14: 50,166,678 (GRCm39) G108R probably damaging Het
Or8g52 C T 9: 39,630,784 (GRCm39) T87I probably benign Het
Peg3 G T 7: 6,713,412 (GRCm39) N603K probably damaging Het
Rhox4c G T X: 36,662,181 (GRCm39) G15V probably benign Het
Sgcb T A 5: 73,797,212 (GRCm39) S183C probably damaging Het
Slc6a19 T A 13: 73,837,679 (GRCm39) I239F possibly damaging Het
Socs7 T C 11: 97,269,378 (GRCm39) Y399H probably damaging Het
Stc2 T C 11: 31,319,804 (GRCm39) D20G probably benign Het
Tmem184b A T 15: 79,254,179 (GRCm39) probably null Het
Tpo A G 12: 30,153,500 (GRCm39) S285P probably damaging Het
Vmn2r27 G T 6: 124,207,139 (GRCm39) Y167* probably null 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
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 2016-08-02