Incidental Mutation 'IGL01302:Mycn'
ID73273
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mycn
Ensembl Gene ENSMUSG00000037169
Gene Namev-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
SynonymsbHLHe37, Nmyc, Nmyc-1, N-myc, Nmyc1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01302
Quality Score
Status
Chromosome12
Chromosomal Location12936093-12941914 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12937586 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 270 (D270G)
Ref Sequence ENSEMBL: ENSMUSP00000114225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043396] [ENSMUST00000130990]
Predicted Effect possibly damaging
Transcript: ENSMUST00000043396
AA Change: D270G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000045993
Gene: ENSMUSG00000037169
AA Change: D270G

DomainStartEndE-ValueType
Pfam:Myc_N 8 370 1.4e-120 PFAM
HLH 385 437 1.09e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000130990
AA Change: D270G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114225
Gene: ENSMUSG00000037169
AA Change: D270G

DomainStartEndE-ValueType
Pfam:Myc_N 9 370 1.1e-148 PFAM
HLH 385 437 1.09e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151534
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired development of the mesonephric tubules, neuroepithelium, sensory ganglia, heart, lung, stomach, and liver. Mutants die around embryonic day 11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,399,470 probably benign Het
Abcb5 T A 12: 118,918,200 D598V probably damaging Het
Adssl1 T C 12: 112,634,736 probably benign Het
Akap9 T A 5: 3,970,711 S1141T probably benign Het
Avil T C 10: 127,017,034 probably null Het
Avl9 C A 6: 56,725,090 H77N probably damaging Het
Cacna1e A G 1: 154,443,907 V1349A probably damaging Het
Cdc23 A C 18: 34,634,644 S483A probably benign Het
Cep192 C T 18: 67,858,903 P1951S probably benign Het
Cp A G 3: 19,966,367 T175A probably damaging Het
Dubr A C 16: 50,732,635 noncoding transcript Het
Eif4g2 G T 7: 111,074,713 Q695K possibly damaging Het
Endod1 A T 9: 14,357,239 S317T possibly damaging Het
Ep400 T C 5: 110,742,048 T450A probably benign Het
Erc1 A C 6: 119,722,303 V790G probably damaging Het
Fam222a T A 5: 114,594,453 L23Q possibly damaging Het
Fam35a C T 14: 34,259,727 V485I probably benign Het
Fancf A G 7: 51,861,287 V323A probably benign Het
Grik2 T A 10: 49,244,330 Q621L probably damaging Het
Gsk3b G T 16: 38,220,018 R319L probably benign Het
Ikzf1 A G 11: 11,768,923 Y297C probably damaging Het
Katnal2 T C 18: 77,047,167 probably benign Het
Lrba G T 3: 86,295,400 C289F probably damaging Het
Mos T C 4: 3,871,815 probably benign Het
Olfr672 A T 7: 104,996,721 M61K probably damaging Het
Olfr777 T A 10: 129,268,523 I267F probably benign Het
Pclo A G 5: 14,675,999 probably benign Het
Pgm2 A G 4: 99,929,606 D14G probably damaging Het
Pramel7 T A 2: 87,491,373 D106V possibly damaging Het
Prdm9 G T 17: 15,553,346 H263N probably benign Het
Psd4 T A 2: 24,396,787 probably null Het
Ptprc G A 1: 138,099,631 T493I possibly damaging Het
Rbbp8 T A 18: 11,721,979 S420R probably benign Het
Sap30bp A G 11: 115,962,547 T219A probably damaging Het
Slc2a7 T A 4: 150,157,564 L200Q probably damaging Het
Slc38a6 T A 12: 73,288,525 probably null Het
Tatdn2 T A 6: 113,704,024 probably benign Het
Thrb A G 14: 18,011,056 probably benign Het
Timp4 T C 6: 115,246,308 Y218C possibly damaging Het
Tlr5 A G 1: 182,974,748 D525G probably benign Het
Usp32 G T 11: 84,988,482 T1467N probably benign Het
Vmn2r78 A G 7: 86,915,361 I5V unknown Het
Zbtb43 T C 2: 33,454,091 H374R probably benign Het
Zfhx4 C A 3: 5,243,568 T618K probably damaging Het
Other mutations in Mycn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02012:Mycn APN 12 12937103 missense probably damaging 1.00
IGL02808:Mycn APN 12 12939892 missense probably benign
PIT4581001:Mycn UTSW 12 12940243 missense possibly damaging 0.82
R0282:Mycn UTSW 12 12937313 missense probably benign 0.02
R3910:Mycn UTSW 12 12937280 missense probably damaging 1.00
R4943:Mycn UTSW 12 12937079 missense probably damaging 1.00
R5667:Mycn UTSW 12 12940044 missense possibly damaging 0.73
R5827:Mycn UTSW 12 12939793 nonsense probably null
R6594:Mycn UTSW 12 12940050 missense probably damaging 0.96
R7513:Mycn UTSW 12 12939742 missense probably benign 0.00
R7560:Mycn UTSW 12 12940291 missense probably benign 0.25
Posted On2013-10-07