Incidental Mutation 'R2348:Mycl'
ID 246025
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 040330-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2348 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 122889445-122896278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122890745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 144 (T144S)
Ref Sequence ENSEMBL: ENSMUSP00000101859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030407] [ENSMUST00000106252] [ENSMUST00000144998]
AlphaFold P10166
Predicted Effect probably benign
Transcript: ENSMUST00000030407
AA Change: T144S

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030407
Gene: ENSMUSG00000028654
AA Change: T144S

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 benign
Transcript: ENSMUST00000106252
AA Change: T144S

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000101859
Gene: ENSMUSG00000028654
AA Change: T144S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (31/31)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1 A G 17: 93,509,702 (GRCm39) D51G possibly damaging Het
Ano3 A G 2: 110,614,088 (GRCm39) I205T possibly damaging Het
Arhgap10 A T 8: 78,177,555 (GRCm39) probably benign Het
Asb18 T G 1: 89,942,256 (GRCm39) D15A probably damaging Het
Atm C A 9: 53,403,568 (GRCm39) S1368I possibly damaging Het
Atp9a A T 2: 168,552,746 (GRCm39) probably benign Het
C2cd3 T C 7: 100,062,573 (GRCm39) V653A probably damaging Het
Ctc1 T A 11: 68,917,017 (GRCm39) S304T probably benign Het
Dennd4c G A 4: 86,729,764 (GRCm39) V789I probably benign Het
Dlgap4 C A 2: 156,543,126 (GRCm39) D176E possibly damaging Het
Hdac5 T C 11: 102,090,840 (GRCm39) T747A probably benign Het
Htr2a A T 14: 74,882,550 (GRCm39) N179Y probably damaging Het
Ift52 T C 2: 162,887,177 (GRCm39) V393A probably damaging Het
Itch T C 2: 155,050,998 (GRCm39) S562P possibly damaging Het
Khdc4 T C 3: 88,616,183 (GRCm39) S457P probably benign Het
Kiss1r G T 10: 79,757,654 (GRCm39) R336L probably benign Het
Klra13-ps A T 6: 130,268,271 (GRCm39) noncoding transcript Het
Krt8 T C 15: 101,907,300 (GRCm39) D261G probably benign Het
Naip5 C T 13: 100,356,246 (GRCm39) R1123K probably benign Het
Or5b122 A T 19: 13,563,553 (GRCm39) E295V probably damaging Het
Rasip1 T G 7: 45,278,507 (GRCm39) probably null Het
Rc3h1 C A 1: 160,778,430 (GRCm39) R452S probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Tpk1 A G 6: 43,323,778 (GRCm39) S224P probably damaging Het
Vmn2r88 A T 14: 51,651,461 (GRCm39) K258N probably benign Het
Vps37c T C 19: 10,683,664 (GRCm39) S29P probably damaging Het
Zfp457 T A 13: 67,441,468 (GRCm39) D369V 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
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
Predicted Primers PCR Primer
(F):5'- AATCTCGGGGCCATTCGAAAG -3'
(R):5'- CAGCTTCAGTCAGAAAATGGGG -3'

Sequencing Primer
(F):5'- GGCAGGAATTATGCTTCCATC -3'
(R):5'- CTTCAGTCAGAAAATGGGGAGGTG -3'
Posted On 2014-10-30