Incidental Mutation 'R7050:Mycl'
ID 547519
Institutional Source Beutler Lab
Gene Symbol Mycl
Ensembl Gene ENSMUSG00000028654
Gene Name v-myc avian myelocytomatosis viral oncogene lung carcinoma derived
Synonyms bHLHe38, Lmyc-1, Mycl1, Lmyc1, L-myc
MMRRC Submission 045241-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7050 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 122889445-122896278 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 122890813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030407] [ENSMUST00000106252] [ENSMUST00000144998]
AlphaFold P10166
Predicted Effect probably null
Transcript: ENSMUST00000030407
SMART Domains Protein: ENSMUSP00000030407
Gene: ENSMUSG00000028654

DomainStartEndE-ValueType
Pfam:Myc_N 1 161 6.7e-29 PFAM
Pfam:Myc_N 137 230 1.1e-11 PFAM
HLH 291 343 6.07e-14 SMART
low complexity region 348 361 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000106252
SMART Domains Protein: ENSMUSP00000101859
Gene: ENSMUSG00000028654

DomainStartEndE-ValueType
Pfam:Myc_N 1 157 3.4e-31 PFAM
Pfam:Myc_N 116 231 1e-9 PFAM
HLH 291 343 6.07e-14 SMART
low complexity region 348 361 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144998
SMART Domains Protein: ENSMUSP00000117232
Gene: ENSMUSG00000028654

DomainStartEndE-ValueType
Pfam:Myc_N 1 58 7.8e-15 PFAM
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (47/49)
MGI Phenotype FUNCTION: This gene encodes a basic helix-loop-helix leucine zipper (bHLHZip) protein that heterodimerizes with another bHLHZip protein to drive transcription of targets important for proliferation, apoptosis and differentiation. Mice lacking this gene product show marked decrease in T-cell priming during bacterial and viral infections. In humans, this gene was found to be amplified in small-cell lung cancers. Alternate splicing of this gene results in multiple variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a targeted null allele are viable, fertile and apparently healthy with no congenital defects or gross morphological/cellular alterations of the CNS, lung, kidney and GI tract. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,864,544 (GRCm39) A346V possibly damaging Het
Adcy5 A T 16: 35,124,070 (GRCm39) M1250L possibly damaging Het
Arhgef38 T C 3: 132,839,388 (GRCm39) probably benign Het
Ascc3 T A 10: 50,716,446 (GRCm39) I1944N probably benign Het
Cabin1 G T 10: 75,549,376 (GRCm39) P1343Q probably damaging Het
Cbr3 A T 16: 93,487,282 (GRCm39) Q155L possibly damaging Het
Cd44 A G 2: 102,644,482 (GRCm39) V577A probably damaging Het
Coil C T 11: 88,872,014 (GRCm39) T125I possibly damaging Het
Fmo3 T C 1: 162,791,473 (GRCm39) N268S probably damaging Het
Fnip2 T C 3: 79,413,577 (GRCm39) T248A probably damaging Het
Ggt7 G A 2: 155,348,295 (GRCm39) T43I probably benign Het
Gm3250 C A 10: 77,617,814 (GRCm39) C188F possibly damaging Het
Iqce G A 5: 140,651,846 (GRCm39) S375F possibly damaging Het
Iqgap3 A G 3: 88,006,220 (GRCm39) T544A probably damaging Het
Islr A G 9: 58,065,000 (GRCm39) L169P probably damaging Het
Kdr G T 5: 76,110,780 (GRCm39) T904N probably damaging Het
Mink1 A G 11: 70,503,158 (GRCm39) T974A possibly damaging Het
Mms19 A G 19: 41,939,185 (GRCm39) probably null Het
Nab1 A T 1: 52,529,894 (GRCm39) M1K probably null Het
Naip6 C T 13: 100,452,007 (GRCm39) G202R probably damaging Het
Nbeal2 G A 9: 110,457,788 (GRCm39) S2159L probably damaging Het
Neb A T 2: 52,112,888 (GRCm39) M4302K possibly damaging Het
Npy1r A G 8: 67,157,192 (GRCm39) D204G probably benign Het
Or2q1 T A 6: 42,794,504 (GRCm39) V33D possibly damaging Het
Pkdcc T A 17: 83,523,073 (GRCm39) I60N possibly damaging Het
Plcxd3 T C 15: 4,546,200 (GRCm39) V68A probably damaging Het
Prss36 G T 7: 127,543,937 (GRCm39) R145S possibly damaging Het
Pygl C A 12: 70,266,396 (GRCm39) G40C probably damaging Het
Rev1 A G 1: 38,093,352 (GRCm39) L1064P probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Serpina3k T C 12: 104,307,403 (GRCm39) F212L possibly damaging Het
Slc16a4 A T 3: 107,208,148 (GRCm39) E219D probably benign Het
Slc6a20b A T 9: 123,427,608 (GRCm39) W434R probably damaging Het
Slco1c1 T A 6: 141,493,652 (GRCm39) F278Y probably damaging Het
Tbx21 T G 11: 97,005,596 (GRCm39) D123A probably benign Het
Trp73 A G 4: 154,165,899 (GRCm39) F35L probably damaging Het
Tspan17 T C 13: 54,943,876 (GRCm39) V135A probably benign Het
Uba2 G A 7: 33,845,687 (GRCm39) Q479* probably null Het
Ubr2 A G 17: 47,272,528 (GRCm39) V889A probably benign Het
Unc80 A G 1: 66,590,067 (GRCm39) probably null Het
Vinac1 T C 2: 128,869,891 (GRCm39) probably null Het
Vmn1r45 A T 6: 89,910,703 (GRCm39) I89N probably damaging Het
Vmn2r11 A G 5: 109,202,657 (GRCm39) I140T probably benign Het
Yipf2 A T 9: 21,503,474 (GRCm39) D24E probably benign Het
Zfp251 T G 15: 76,738,496 (GRCm39) Q199P possibly damaging Het
Zfp37 A T 4: 62,109,908 (GRCm39) N385K possibly damaging Het
Zfp655 G A 5: 145,181,545 (GRCm39) E468K probably benign Het
Other mutations in Mycl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02529:Mycl APN 4 122,890,770 (GRCm39) missense probably damaging 1.00
IGL02678:Mycl APN 4 122,893,776 (GRCm39) missense probably damaging 1.00
R1509:Mycl UTSW 4 122,894,100 (GRCm39) missense probably damaging 1.00
R2348:Mycl UTSW 4 122,890,745 (GRCm39) missense probably benign 0.07
R4050:Mycl UTSW 4 122,890,632 (GRCm39) splice site probably null
R4209:Mycl UTSW 4 122,893,715 (GRCm39) missense possibly damaging 0.57
R4798:Mycl UTSW 4 122,894,049 (GRCm39) missense probably damaging 1.00
R5267:Mycl UTSW 4 122,894,289 (GRCm39) missense probably damaging 1.00
R5795:Mycl UTSW 4 122,890,415 (GRCm39) missense probably damaging 1.00
R6195:Mycl UTSW 4 122,893,713 (GRCm39) missense probably damaging 1.00
R6233:Mycl UTSW 4 122,893,713 (GRCm39) missense probably damaging 1.00
R6854:Mycl UTSW 4 122,894,039 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGGCAGGAATTATGCTTC -3'
(R):5'- TGTTTACCAACACACCCACGTG -3'

Sequencing Primer
(F):5'- GGGCAGGAATTATGCTTCCATCATTC -3'
(R):5'- GTGCCAGACAGACACAGCTG -3'
Posted On 2019-05-13