Incidental Mutation 'R6594:Mycn'
ID 524810
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
MMRRC Submission 044718-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6594 (G1)
Quality Score 100.008
Status Validated
Chromosome 12
Chromosomal Location 12986094-12991837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12990051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 115 (D115G)
Ref Sequence ENSEMBL: ENSMUSP00000114225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043396] [ENSMUST00000130990]
AlphaFold P03966
Predicted Effect probably damaging
Transcript: ENSMUST00000043396
AA Change: D115G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045993
Gene: ENSMUSG00000037169
AA Change: D115G

DomainStartEndE-ValueType
Pfam:Myc_N 8 370 1.4e-120 PFAM
HLH 385 437 1.09e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130990
AA Change: D115G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114225
Gene: ENSMUSG00000037169
AA Change: D115G

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (52/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,113,432 (GRCm39) N296S probably benign Het
Abca13 A T 11: 9,244,632 (GRCm39) N2165I possibly damaging Het
Anpep T A 7: 79,491,109 (GRCm39) probably null Het
Bcl2a1b A C 9: 89,089,647 (GRCm39) I145L probably benign Het
Ccar2 G A 14: 70,377,925 (GRCm39) L687F probably damaging Het
Cd69 A G 6: 129,246,537 (GRCm39) probably null Het
Chchd10 A C 10: 75,772,158 (GRCm39) Q43P probably damaging Het
Ddx55 A G 5: 124,704,988 (GRCm39) E415G probably damaging Het
Defa41 A G 8: 21,692,471 (GRCm39) probably null Het
Dhx40 A T 11: 86,676,599 (GRCm39) C172S possibly damaging Het
Epha1 G A 6: 42,341,625 (GRCm39) T475I probably benign Het
Eri1 T C 8: 35,949,687 (GRCm39) T91A probably damaging Het
Fscn1 C T 5: 142,955,783 (GRCm39) A158V probably benign Het
Gm11437 C T 11: 84,055,386 (GRCm39) G77R probably null Het
Golm1 T C 13: 59,812,041 (GRCm39) N94D possibly damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Haus4 C A 14: 54,781,268 (GRCm39) E269D possibly damaging Het
Hyou1 T C 9: 44,300,619 (GRCm39) M896T probably benign Het
Itpr2 T A 6: 146,091,978 (GRCm39) M2174L possibly damaging Het
Kars1 T C 8: 112,720,299 (GRCm39) probably benign Het
Kif1a T C 1: 92,949,035 (GRCm39) M1488V probably benign Het
Lrp2 T C 2: 69,270,267 (GRCm39) T4106A possibly damaging Het
Lrrc20 G A 10: 61,318,225 (GRCm39) V16I possibly damaging Het
Mecr T A 4: 131,582,004 (GRCm39) V162E probably damaging Het
Ms4a4a C A 19: 11,363,778 (GRCm39) A102E probably damaging Het
Ninj2 A T 6: 120,175,750 (GRCm39) T138S possibly damaging Het
Oasl2 G A 5: 115,044,836 (GRCm39) V121I probably benign Het
Or10s1 T C 9: 39,986,239 (GRCm39) L216P probably damaging Het
Or2r11 A T 6: 42,437,309 (GRCm39) S215T probably benign Het
Or7g19 T C 9: 18,856,127 (GRCm39) F61S probably damaging Het
Pcdha11 A C 18: 37,144,235 (GRCm39) I109L probably benign Het
Pira1 T A 7: 3,739,498 (GRCm39) K457* probably null Het
Pon1 A G 6: 5,185,314 (GRCm39) L62P probably damaging Het
Rp1l1 A T 14: 64,269,126 (GRCm39) K1571* probably null Het
Sec24d G T 3: 123,087,412 (GRCm39) G193C probably damaging Het
Sema3b A T 9: 107,476,025 (GRCm39) M732K probably benign Het
Serpinb8 T C 1: 107,525,201 (GRCm39) M1T probably null Het
Sgip1 T A 4: 102,819,676 (GRCm39) V594E probably damaging Het
Slc3a2 T C 19: 8,685,410 (GRCm39) S197G probably damaging Het
Slc44a5 T C 3: 153,964,660 (GRCm39) V520A possibly damaging Het
Surf6 G T 2: 26,792,761 (GRCm39) D13E possibly damaging Het
Tmem94 G A 11: 115,689,112 (GRCm39) R1341H probably damaging Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Traf7 A G 17: 24,728,813 (GRCm39) V591A possibly damaging Het
Trim72 T C 7: 127,609,220 (GRCm39) S341P probably damaging Het
Trps1 A G 15: 50,694,351 (GRCm39) V398A probably damaging Het
Ube2m C A 7: 12,771,617 (GRCm39) E14* probably null Het
Unc119 T A 11: 78,238,046 (GRCm39) Y10N probably damaging Het
Ush2a T C 1: 188,642,995 (GRCm39) L4119P possibly damaging Het
Vcp A T 4: 42,993,826 (GRCm39) I102N probably damaging Het
Vmn2r4 A G 3: 64,296,731 (GRCm39) S685P probably damaging Het
Vmn2r58 T C 7: 41,486,535 (GRCm39) M787V possibly damaging Het
Vmn2r72 T C 7: 85,398,892 (GRCm39) H487R probably benign Het
Xcr1 A G 9: 123,685,309 (GRCm39) I151T probably benign Het
Zfp658 T C 7: 43,216,701 (GRCm39) S24P possibly damaging Het
Zfyve16 T C 13: 92,650,326 (GRCm39) D886G 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
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
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'- GAGTCGCTCAAGGTATCCTCTC -3'
(R):5'- AAGAAGTTTGAGCTGCTGCC -3'

Sequencing Primer
(F):5'- TCTCGCTTGTTCACCGGGAAG -3'
(R):5'- TTCGAATTGGGCTACGGA -3'
Posted On 2018-06-22