Incidental Mutation 'PIT4581001:Mycn'
ID 556523
Institutional Source Beutler Lab
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 # PIT4581001 (G1)
Quality Score 165.009
Status Not validated
Chromosome 12
Chromosomal Location 12986094-12991837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12990244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 51 (K51E)
Ref Sequence ENSEMBL: ENSMUSP00000045993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043396] [ENSMUST00000130990]
AlphaFold P03966
Predicted Effect possibly damaging
Transcript: ENSMUST00000043396
AA Change: K51E

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045993
Gene: ENSMUSG00000037169
AA Change: K51E

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: K51E

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114225
Gene: ENSMUSG00000037169
AA Change: K51E

DomainStartEndE-ValueType
Pfam:Myc_N 9 370 1.1e-148 PFAM
HLH 385 437 1.09e-15 SMART
Coding Region Coverage
  • 1x: 92.9%
  • 3x: 90.6%
  • 10x: 84.5%
  • 20x: 71.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,251,139 (GRCm39) H522R probably benign Het
Adcy8 A T 15: 64,626,666 (GRCm39) I724N probably damaging Het
Cdk2ap1rt A G 11: 48,716,971 (GRCm39) I69T possibly damaging Het
Cstdc6 T C 16: 36,143,294 (GRCm39) I52V probably benign Het
Ctsj A T 13: 61,150,370 (GRCm39) C210S probably damaging Het
Cyp2d12 A G 15: 82,442,652 (GRCm39) E365G probably damaging Het
Dbi A T 1: 120,047,642 (GRCm39) V85E probably damaging Het
Dhrs7b A G 11: 60,742,723 (GRCm39) I153M possibly damaging Het
Dock10 C A 1: 80,483,163 (GRCm39) C2096F probably damaging Het
Eid3 T A 10: 82,703,589 (GRCm39) I350K probably damaging Het
Fam83b A T 9: 76,398,434 (GRCm39) F890I probably damaging Het
Fras1 G A 5: 96,703,160 (GRCm39) D308N probably benign Het
Ftsj3 T C 11: 106,140,302 (GRCm39) D822G unknown Het
Gabra5 T C 7: 57,138,605 (GRCm39) T148A probably damaging Het
Gad1 A G 2: 70,430,011 (GRCm39) D526G probably benign Het
Gm21698 T A 5: 26,192,350 (GRCm39) T79S probably benign Het
Gon4l T G 3: 88,802,821 (GRCm39) V1144G probably damaging Het
Ighv1-24 A T 12: 114,736,803 (GRCm39) N32K probably benign Het
Islr T C 9: 58,064,484 (GRCm39) N341S possibly damaging Het
Mybph A G 1: 134,122,479 (GRCm39) T175A probably benign Het
Myh14 T C 7: 44,262,906 (GRCm39) N1763D probably benign Het
Myrip T C 9: 120,296,583 (GRCm39) S831P probably damaging Het
Neb G T 2: 52,178,814 (GRCm39) A1314E probably damaging Het
Notch2 T C 3: 98,011,778 (GRCm39) Y599H probably damaging Het
Npr1 C A 3: 90,369,564 (GRCm39) G387V probably damaging Het
Or6e1 T A 14: 54,519,995 (GRCm39) D119V probably damaging Het
Orai2 G A 5: 136,179,364 (GRCm39) T223M probably damaging Het
Pcdhga5 A G 18: 37,829,910 (GRCm39) E786G probably benign Het
Pde6b A G 5: 108,576,374 (GRCm39) T749A probably benign Het
Pdzrn3 A G 6: 101,128,464 (GRCm39) V734A probably benign Het
Pkd1l1 GCC GCCC 11: 8,866,298 (GRCm39) probably null Het
Recql5 C A 11: 115,823,682 (GRCm39) K21N possibly damaging Het
Rimbp3 G A 16: 17,028,580 (GRCm39) S668N possibly damaging Het
Sdr42e1 A T 8: 118,390,257 (GRCm39) I128N probably damaging Het
Shprh TAAAA T 10: 11,068,238 (GRCm39) probably null Het
Slc15a2 A T 16: 36,592,405 (GRCm39) C251S probably benign Het
Slc17a4 A T 13: 24,086,001 (GRCm39) S329T probably damaging Het
Slc35a1 A G 4: 34,669,501 (GRCm39) V246A possibly damaging Het
Slc37a2 A T 9: 37,148,701 (GRCm39) S260R probably benign Het
Slco6d1 A T 1: 98,351,050 (GRCm39) I177L possibly damaging Het
Tmcc1 A G 6: 116,020,417 (GRCm39) V345A Het
Tmod2 T C 9: 75,504,583 (GRCm39) Y12C probably damaging Het
Top2a A T 11: 98,893,790 (GRCm39) W1035R probably damaging Het
Trpc1 A G 9: 95,618,974 (GRCm39) S126P probably benign Het
Ttn A G 2: 76,564,305 (GRCm39) S28576P probably damaging Het
Vmn1r16 A T 6: 57,299,858 (GRCm39) W255R probably benign Het
Vmn2r5 T A 3: 64,411,348 (GRCm39) K407* probably null Het
Vps13b G T 15: 35,534,409 (GRCm39) W908C probably damaging Het
Ykt6 A G 11: 5,912,747 (GRCm39) K150E possibly damaging Het
Zbtb2 A G 10: 4,319,265 (GRCm39) Y254H possibly damaging Het
Zfp217 A G 2: 169,956,503 (GRCm39) S832P probably benign Het
Zfp595 A G 13: 67,465,949 (GRCm39) S108P probably benign Het
Zfp786 A T 6: 47,796,756 (GRCm39) F727L probably damaging Het
Zzef1 G A 11: 72,790,498 (GRCm39) V2151I probably benign Het
Other mutations in Mycn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Mycn APN 12 12,987,587 (GRCm39) missense possibly damaging 0.91
IGL02012:Mycn APN 12 12,987,104 (GRCm39) missense probably damaging 1.00
IGL02808:Mycn APN 12 12,989,893 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- ACCGGATTAGGAGTGAGGCC -3'
(R):5'- TGCTCTCCACGGGAAGGAAG -3'

Sequencing Primer
(F):5'- TTAGGAGTGAGGCCACCCAG -3'
(R):5'- TCCACGGGAAGGAAGCACTC -3'
Posted On 2019-06-07