Incidental Mutation 'IGL02834:Myc'
ID361562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myc
Ensembl Gene ENSMUSG00000022346
Gene Namemyelocytomatosis oncogene
SynonymsNird, Myc2, Niard, c-myc, bHLHe39
Accession Numbers

VEGA: OTTMUSP00000048877; MGI: 97250

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02834
Quality Score
Status
Chromosome15
Chromosomal Location61985391-61990374 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61987666 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 64 (I64V)
Ref Sequence ENSEMBL: ENSMUSP00000140183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022971] [ENSMUST00000159327] [ENSMUST00000159338] [ENSMUST00000160009] [ENSMUST00000161976] [ENSMUST00000167731] [ENSMUST00000188482] [ENSMUST00000191178]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022971
AA Change: I64V

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022971
Gene: ENSMUSG00000022346
AA Change: I64V

DomainStartEndE-ValueType
Pfam:Myc_N 16 360 7e-118 PFAM
HLH 375 427 2.3e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000159327
AA Change: I49V

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124758
Gene: ENSMUSG00000022346
AA Change: I49V

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 possibly damaging
Transcript: ENSMUST00000160009
AA Change: I49V

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123852
Gene: ENSMUSG00000022346
AA Change: I49V

DomainStartEndE-ValueType
Pfam:Myc_N 1 345 1.4e-141 PFAM
HLH 360 412 2.3e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000161976
AA Change: I49V

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123821
Gene: ENSMUSG00000022346
AA Change: I49V

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: I63V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130285
Gene: ENSMUSG00000022346
AA Change: I63V

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: I64V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140183
Gene: ENSMUSG00000022346
AA Change: I64V

DomainStartEndE-ValueType
Pfam:Myc_N 16 360 1.5e-141 PFAM
HLH 375 427 2.3e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191178
AA Change: I63V

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141139
Gene: ENSMUSG00000022346
AA Change: I63V

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530099J19Rik A T 13: 19,729,875 noncoding transcript Het
Arhgap10 A T 8: 77,365,100 L430Q probably damaging Het
Cc2d2a C T 5: 43,714,521 R900* probably null Het
Cd14 A G 18: 36,725,503 Y300H probably benign Het
Dgcr8 T A 16: 18,272,759 T584S probably benign Het
Epb41l5 C T 1: 119,623,955 G100D probably benign Het
Fat4 G A 3: 38,956,744 G1998R probably damaging Het
Fndc3b A T 3: 27,508,503 L279H probably damaging Het
Gabrr1 A G 4: 33,151,426 E114G probably damaging Het
Hrh2 A G 13: 54,215,000 R332G probably benign Het
Kif5a T C 10: 127,245,756 I180V probably benign Het
Lyg2 T A 1: 37,909,967 R105W probably damaging Het
Nrcam G A 12: 44,541,075 probably null Het
Ogdhl A G 14: 32,325,946 Y51C probably damaging Het
Olfr1339 C T 4: 118,734,606 L26F probably benign Het
Olfr631 T A 7: 103,929,394 C190* probably null Het
Pdlim3 A G 8: 45,917,532 R290G probably benign Het
Ppm1l G A 3: 69,549,343 A198T probably damaging Het
Prkd2 A G 7: 16,845,934 D119G probably damaging Het
Rapgef3 A T 15: 97,748,265 I820N probably damaging Het
Scnn1b A G 7: 121,912,062 Y324C probably damaging Het
Smc5 G A 19: 23,257,604 R289C probably benign Het
Vmn2r51 T A 7: 10,098,136 R508* probably null Het
Vps13c A T 9: 67,937,855 I2074L probably benign Het
Wdr64 T C 1: 175,805,849 probably benign Het
Ydjc C T 16: 17,147,289 P74L probably benign Het
Other mutations in Myc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Myc APN 15 61989820 missense probably benign 0.03
IGL02372:Myc APN 15 61987858 missense probably damaging 1.00
IGL02400:Myc APN 15 61989911 unclassified probably benign
IGL02677:Myc APN 15 61989664 missense probably damaging 1.00
IGL03330:Myc APN 15 61988149 missense probably benign
PIT1430001:Myc UTSW 15 61987693 missense probably damaging 1.00
R1245:Myc UTSW 15 61987897 missense probably damaging 0.96
R2105:Myc UTSW 15 61988102 missense probably damaging 1.00
R4373:Myc UTSW 15 61989664 missense probably damaging 0.99
R6774:Myc UTSW 15 61988279 critical splice donor site probably null
R6813:Myc UTSW 15 61988152 missense probably damaging 1.00
R7371:Myc UTSW 15 61988182 missense probably damaging 0.97
Posted On2015-12-18