Incidental Mutation 'IGL00155:Myc'
ID920
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 #IGL00155
Quality Score
Status
Chromosome15
Chromosomal Location61985391-61990374 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61989820 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 425 (H425R)
Ref Sequence ENSEMBL: ENSMUSP00000130285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022971] [ENSMUST00000159327] [ENSMUST00000159338] [ENSMUST00000160009] [ENSMUST00000161976] [ENSMUST00000167731] [ENSMUST00000188482] [ENSMUST00000191178]
Predicted Effect probably benign
Transcript: ENSMUST00000022971
AA Change: H426R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000022971
Gene: ENSMUSG00000022346
AA Change: H426R

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: H411R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124758
Gene: ENSMUSG00000022346
AA Change: H411R

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: H411R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123852
Gene: ENSMUSG00000022346
AA Change: H411R

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: H411R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123821
Gene: ENSMUSG00000022346
AA Change: H411R

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: H425R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000130285
Gene: ENSMUSG00000022346
AA Change: H425R

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: H426R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000140183
Gene: ENSMUSG00000022346
AA Change: H426R

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: H425R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000141139
Gene: ENSMUSG00000022346
AA Change: H425R

DomainStartEndE-ValueType
Pfam:Myc_N 15 359 1.9e-141 PFAM
HLH 374 426 2.3e-14 SMART
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N22Rik A G 5: 11,921,410 S110G possibly damaging Het
Aacs T C 5: 125,513,171 F498S probably damaging Het
Arhgap11a A G 2: 113,834,256 S561P probably benign Het
Best3 T C 10: 116,988,727 Y33H probably damaging Het
Cd209b T A 8: 3,919,945 probably benign Het
Cep152 A G 2: 125,563,888 S1575P probably benign Het
Crabp2 A G 3: 87,952,199 Y52C probably damaging Het
Crybg1 T C 10: 43,992,509 D1017G probably damaging Het
Ctnna2 A T 6: 76,980,761 W137R probably damaging Het
Cxcl9 T A 5: 92,323,869 H104L possibly damaging Het
Ddr2 A G 1: 169,984,427 I742T possibly damaging Het
Frem1 A G 4: 82,959,389 V223A possibly damaging Het
Fzd10 T A 5: 128,601,528 I104N probably damaging Het
Greb1 A G 12: 16,711,961 S473P probably damaging Het
Gtf2i T C 5: 134,242,748 Y873C probably damaging Het
Igsf6 T A 7: 121,070,653 K89* probably null Het
Ints3 A G 3: 90,406,329 F331L probably damaging Het
Kcnh3 A T 15: 99,242,473 H1080L possibly damaging Het
Mettl15 A T 2: 109,093,176 Y300* probably null Het
Mms19 A G 19: 41,948,233 F654L probably benign Het
Ntn1 G T 11: 68,226,619 probably benign Het
Ormdl2 C A 10: 128,820,075 G69W probably damaging Het
Pdpr T C 8: 111,102,072 V69A possibly damaging Het
Rbbp6 T C 7: 122,988,685 I254T probably damaging Het
Sema6d A G 2: 124,659,865 R543G possibly damaging Het
Slc18a1 C T 8: 69,051,346 A314T probably damaging Het
Slc22a26 A G 19: 7,782,836 L514P probably damaging Het
Slc22a28 A C 19: 8,130,203 S167A possibly damaging Het
Tchh A G 3: 93,445,299 E682G unknown Het
Thbs2 A T 17: 14,668,835 M1134K probably damaging Het
Tmem26 A G 10: 68,775,354 S218G probably damaging Het
Tmprss11c A T 5: 86,239,395 S208R probably benign Het
Tnfrsf8 T C 4: 145,292,591 probably null Het
Ush2a T C 1: 188,864,678 S3872P probably benign Het
Vmn1r69 T C 7: 10,579,952 N205S probably benign Het
Vmn2r54 T A 7: 12,631,913 probably benign Het
Wwtr1 A T 3: 57,463,521 M328K possibly damaging Het
Zfp64 G A 2: 168,926,681 S337L probably benign Het
Other mutations in Myc
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02834:Myc APN 15 61987666 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
R8376:Myc UTSW 15 61987546 missense possibly damaging 0.94
RF020:Myc UTSW 15 61985823 unclassified probably benign
Posted On2011-07-12