Incidental Mutation 'IGL01302:Mycn'
ID 73273
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mycn
Ensembl Gene ENSMUSG00000037169
Gene Name v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
Synonyms bHLHe37, Nmyc, Nmyc1, N-myc, Nmyc-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01302
Quality Score
Status
Chromosome 12
Chromosomal Location 12986094-12991837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12987587 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P03966
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: 9,349,470 (GRCm39) probably benign Het
Abcb5 T A 12: 118,881,935 (GRCm39) D598V probably damaging Het
Adss1 T C 12: 112,601,170 (GRCm39) probably benign Het
Akap9 T A 5: 4,020,711 (GRCm39) S1141T probably benign Het
Avil T C 10: 126,852,903 (GRCm39) probably null Het
Avl9 C A 6: 56,702,075 (GRCm39) H77N probably damaging Het
Cacna1e A G 1: 154,319,653 (GRCm39) V1349A probably damaging Het
Cdc23 A C 18: 34,767,697 (GRCm39) S483A probably benign Het
Cep192 C T 18: 67,991,974 (GRCm39) P1951S probably benign Het
Cp A G 3: 20,020,531 (GRCm39) T175A probably damaging Het
Dubr A C 16: 50,552,998 (GRCm39) noncoding transcript Het
Eif4g2 G T 7: 110,673,920 (GRCm39) Q695K possibly damaging Het
Endod1 A T 9: 14,268,535 (GRCm39) S317T possibly damaging Het
Ep400 T C 5: 110,889,914 (GRCm39) T450A probably benign Het
Erc1 A C 6: 119,699,264 (GRCm39) V790G probably damaging Het
Fam222a T A 5: 114,732,514 (GRCm39) L23Q possibly damaging Het
Fancf A G 7: 51,511,035 (GRCm39) V323A probably benign Het
Grik2 T A 10: 49,120,426 (GRCm39) Q621L probably damaging Het
Gsk3b G T 16: 38,040,380 (GRCm39) R319L probably benign Het
Ikzf1 A G 11: 11,718,923 (GRCm39) Y297C probably damaging Het
Katnal2 T C 18: 77,134,863 (GRCm39) probably benign Het
Lrba G T 3: 86,202,707 (GRCm39) C289F probably damaging Het
Mos T C 4: 3,871,815 (GRCm39) probably benign Het
Or52e15 A T 7: 104,645,928 (GRCm39) M61K probably damaging Het
Or6c207 T A 10: 129,104,392 (GRCm39) I267F probably benign Het
Pclo A G 5: 14,726,013 (GRCm39) probably benign Het
Pgm1 A G 4: 99,786,803 (GRCm39) D14G probably damaging Het
Pramel7 T A 2: 87,321,717 (GRCm39) D106V possibly damaging Het
Prdm9 G T 17: 15,773,608 (GRCm39) H263N probably benign Het
Psd4 T A 2: 24,286,799 (GRCm39) probably null Het
Ptprc G A 1: 138,027,369 (GRCm39) T493I possibly damaging Het
Rbbp8 T A 18: 11,855,036 (GRCm39) S420R probably benign Het
Sap30bp A G 11: 115,853,373 (GRCm39) T219A probably damaging Het
Shld2 C T 14: 33,981,684 (GRCm39) V485I probably benign Het
Slc2a7 T A 4: 150,242,021 (GRCm39) L200Q probably damaging Het
Slc38a6 T A 12: 73,335,299 (GRCm39) probably null Het
Tatdn2 T A 6: 113,680,985 (GRCm39) probably benign Het
Thrb A G 14: 18,011,056 (GRCm38) probably benign Het
Timp4 T C 6: 115,223,269 (GRCm39) Y218C possibly damaging Het
Tlr5 A G 1: 182,802,313 (GRCm39) D525G probably benign Het
Usp32 G T 11: 84,879,308 (GRCm39) T1467N probably benign Het
Vmn2r78 A G 7: 86,564,569 (GRCm39) I5V unknown Het
Zbtb43 T C 2: 33,344,103 (GRCm39) H374R probably benign Het
Zfhx4 C A 3: 5,308,628 (GRCm39) T618K probably damaging Het
Other mutations in Mycn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02012:Mycn APN 12 12,987,104 (GRCm39) missense probably damaging 1.00
IGL02808:Mycn APN 12 12,989,893 (GRCm39) missense probably benign
PIT4581001:Mycn UTSW 12 12,990,244 (GRCm39) missense possibly damaging 0.82
R0282:Mycn UTSW 12 12,987,314 (GRCm39) missense probably benign 0.02
R3910:Mycn UTSW 12 12,987,281 (GRCm39) missense probably damaging 1.00
R4943:Mycn UTSW 12 12,987,080 (GRCm39) missense probably damaging 1.00
R5667:Mycn UTSW 12 12,990,045 (GRCm39) missense possibly damaging 0.73
R5827:Mycn UTSW 12 12,989,794 (GRCm39) nonsense probably null
R6594:Mycn UTSW 12 12,990,051 (GRCm39) missense probably damaging 0.96
R7513:Mycn UTSW 12 12,989,743 (GRCm39) missense probably benign 0.00
R7560:Mycn UTSW 12 12,990,292 (GRCm39) missense probably benign 0.25
R9225:Mycn UTSW 12 12,987,609 (GRCm39) missense probably damaging 1.00
R9526:Mycn UTSW 12 12,989,778 (GRCm39) missense probably benign 0.01
Posted On 2013-10-07