Incidental Mutation 'IGL02678:Mycl'
ID 303261
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02678
Quality Score
Status
Chromosome 4
Chromosomal Location 122889445-122896278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122893776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 192 (R192Q)
Ref Sequence ENSEMBL: ENSMUSP00000101859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030407] [ENSMUST00000106252] [ENSMUST00000144998]
AlphaFold P10166
Predicted Effect probably damaging
Transcript: ENSMUST00000030407
AA Change: R192Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030407
Gene: ENSMUSG00000028654
AA Change: R192Q

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 damaging
Transcript: ENSMUST00000106252
AA Change: R192Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101859
Gene: ENSMUSG00000028654
AA Change: R192Q

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 noncoding transcript
Transcript: ENSMUST00000135925
Predicted Effect probably benign
Transcript: ENSMUST00000144998
SMART Domains Protein: ENSMUSP00000117232
Gene: ENSMUSG00000028654

DomainStartEndE-ValueType
Pfam:Myc_N 1 58 7.8e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147259
Coding Region Coverage
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,035,867 (GRCm39) probably benign Het
Adgrb1 A G 15: 74,410,177 (GRCm39) E272G probably damaging Het
Alcam G A 16: 52,094,401 (GRCm39) P416S probably damaging Het
B3galt1 A G 2: 67,949,254 (GRCm39) H323R probably benign Het
Bahcc1 G A 11: 120,163,697 (GRCm39) S665N probably damaging Het
Birc6 T C 17: 74,956,898 (GRCm39) S3631P probably damaging Het
Capn3 A C 2: 120,333,479 (GRCm39) N621T probably damaging Het
Cblif T C 19: 11,725,839 (GRCm39) M43T probably damaging Het
Ccdc162 G A 10: 41,437,151 (GRCm39) H480Y probably damaging Het
Ccr2 T A 9: 123,906,783 (GRCm39) D354E probably benign Het
Cdc42bpb T G 12: 111,292,530 (GRCm39) D335A probably damaging Het
Cdcp3 A G 7: 130,830,646 (GRCm39) Y360C probably damaging Het
Chrd G T 16: 20,552,770 (GRCm39) R89L probably damaging Het
Cops2 T C 2: 125,686,831 (GRCm39) R91G probably benign Het
Ddi1 T C 9: 6,266,106 (GRCm39) T88A probably benign Het
Dnai1 A C 4: 41,602,917 (GRCm39) E140A probably benign Het
Eif1ad17 C A 12: 87,978,946 (GRCm39) P110Q possibly damaging Het
Gcn1 A G 5: 115,751,814 (GRCm39) D2063G probably damaging Het
Gdpd4 A T 7: 97,623,584 (GRCm39) probably benign Het
Gng7 C A 10: 80,787,518 (GRCm39) L48F probably damaging Het
Htt G T 5: 35,057,246 (GRCm39) C2725F probably damaging Het
Inpp4b A G 8: 82,583,373 (GRCm39) K159R probably damaging Het
Insr G T 8: 3,223,570 (GRCm39) N854K probably benign Het
Ktn1 A T 14: 47,971,610 (GRCm39) probably null Het
Lcat A G 8: 106,668,572 (GRCm39) probably null Het
Mb21d2 T C 16: 28,646,801 (GRCm39) E391G probably benign Het
Mms19 A G 19: 41,942,915 (GRCm39) S354P possibly damaging Het
Mx2 G A 16: 97,357,320 (GRCm39) probably null Het
Mzf1 A G 7: 12,786,836 (GRCm39) V78A probably benign Het
Nipbl G T 15: 8,380,594 (GRCm39) P733T possibly damaging Het
Nploc4 A G 11: 120,280,198 (GRCm39) I450T probably benign Het
Omd A T 13: 49,745,757 (GRCm39) E389V probably benign Het
Or8g30 C T 9: 39,230,217 (GRCm39) S231N probably benign Het
Oxgr1 A G 14: 120,259,580 (GRCm39) L209P probably damaging Het
Pak1 A C 7: 97,543,209 (GRCm39) T291P probably damaging Het
Pcmtd1 T A 1: 7,240,045 (GRCm39) I338K probably damaging Het
Phrf1 A G 7: 140,840,195 (GRCm39) D364G probably damaging Het
Pomk G A 8: 26,473,135 (GRCm39) P273S probably damaging Het
Psg22 A T 7: 18,453,418 (GRCm39) I38F probably damaging Het
Rbks G T 5: 31,830,757 (GRCm39) T42N probably damaging Het
Rrbp1 A G 2: 143,832,107 (GRCm39) V20A probably damaging Het
Six4 T C 12: 73,159,408 (GRCm39) Y176C probably damaging Het
Slc11a2 T A 15: 100,310,081 (GRCm39) M9L possibly damaging Het
Slc16a11 T C 11: 70,106,242 (GRCm39) L112S probably damaging Het
Slc25a28 A T 19: 43,655,586 (GRCm39) probably benign Het
Slc30a3 G A 5: 31,245,676 (GRCm39) R237* probably null Het
Slco1a8 A T 6: 141,954,444 (GRCm39) Y10N probably damaging Het
Smc1b G A 15: 84,949,201 (GRCm39) R1237* probably null Het
Smtn T C 11: 3,476,353 (GRCm39) E585G possibly damaging Het
Spatc1 A T 15: 76,176,572 (GRCm39) D441V probably damaging Het
Tenm4 A G 7: 96,545,426 (GRCm39) N2481D probably damaging Het
Tnks2 A T 19: 36,823,143 (GRCm39) I137F possibly damaging Het
Trip11 T C 12: 101,849,649 (GRCm39) K1472E probably damaging Het
Ttn C A 2: 76,708,660 (GRCm39) E1846* probably null Het
Vwa8 A G 14: 79,221,640 (GRCm39) D532G probably damaging Het
Zfp268 A T 4: 145,349,067 (GRCm39) H168L probably damaging Het
Zfp977 G A 7: 42,232,419 (GRCm39) T14I probably damaging Het
Other mutations in Mycl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02529:Mycl APN 4 122,890,770 (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
R7050:Mycl UTSW 4 122,890,813 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16