Incidental Mutation 'R4209:Mycl'
ID 319058
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 041038-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4209 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 122889445-122896278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 122893715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 172 (V172L)
Ref Sequence ENSEMBL: ENSMUSP00000101859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030407] [ENSMUST00000106252] [ENSMUST00000144998]
AlphaFold P10166
Predicted Effect possibly damaging
Transcript: ENSMUST00000030407
AA Change: V172L

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030407
Gene: ENSMUSG00000028654
AA Change: V172L

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 possibly damaging
Transcript: ENSMUST00000106252
AA Change: V172L

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101859
Gene: ENSMUSG00000028654
AA Change: V172L

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (45/46)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A T 3: 59,784,577 (GRCm39) Y350F probably damaging Het
Ahnak G A 19: 8,979,964 (GRCm39) G416D probably damaging Het
Ap3b2 C A 7: 81,126,884 (GRCm39) A289S probably benign Het
Arhgap23 C A 11: 97,345,322 (GRCm39) T657K probably damaging Het
Bcl9 A G 3: 97,117,269 (GRCm39) L475P probably damaging Het
Bean1 T A 8: 104,940,566 (GRCm39) M1K probably null Het
Cand1 T A 10: 119,047,463 (GRCm39) I676F probably benign Het
Casp3 G T 8: 47,088,423 (GRCm39) D107Y probably damaging Het
Cops4 T A 5: 100,695,352 (GRCm39) probably benign Het
Dchs1 A T 7: 105,415,397 (GRCm39) D626E probably damaging Het
Dpysl2 T C 14: 67,052,926 (GRCm39) S308G probably damaging Het
Fezf1 T C 6: 23,246,616 (GRCm39) K323E probably damaging Het
Gm10272 T C 10: 77,542,665 (GRCm39) V69A possibly damaging Het
Gtf2f1 A G 17: 57,318,003 (GRCm39) V11A probably benign Het
Hnf4a T C 2: 163,410,809 (GRCm39) S378P probably benign Het
Inpp5j T G 11: 3,451,107 (GRCm39) H514P probably damaging Het
Irf8 T A 8: 121,480,208 (GRCm39) Y149N probably damaging Het
Kel C T 6: 41,675,359 (GRCm39) W297* probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mcpt8 G A 14: 56,321,375 (GRCm39) H30Y probably damaging Het
Pcgf5 C A 19: 36,414,740 (GRCm39) N26K possibly damaging Het
Ppp2r2a A G 14: 67,266,328 (GRCm39) L111S probably damaging Het
Prdm2 T C 4: 142,861,007 (GRCm39) D761G probably damaging Het
Sec11a A T 7: 80,584,790 (GRCm39) I49N probably damaging Het
Sesn3 T C 9: 14,217,505 (GRCm39) I30T probably benign Het
Slc22a21 A G 11: 53,846,881 (GRCm39) S331P probably benign Het
Slc38a3 T G 9: 107,532,547 (GRCm39) S358R possibly damaging Het
Slc9a5 A G 8: 106,085,103 (GRCm39) N535D possibly damaging Het
Spns2 T C 11: 72,345,012 (GRCm39) D492G probably benign Het
Tcn2 T C 11: 3,872,114 (GRCm39) K338E possibly damaging Het
Tdp1 C A 12: 99,864,588 (GRCm39) A243E probably damaging Het
Tex16 T A X: 111,030,640 (GRCm39) D1046E probably benign Het
Tmem120a T C 5: 135,764,559 (GRCm39) N340S probably benign Het
Tnik A T 3: 28,413,214 (GRCm39) probably benign Het
Trim36 A G 18: 46,329,191 (GRCm39) L71P probably benign Het
Tube1 A G 10: 39,020,930 (GRCm39) probably null Het
Urgcp C A 11: 5,665,878 (GRCm39) G820V probably damaging Het
Veph1 A T 3: 66,151,967 (GRCm39) L154Q probably damaging Het
Vmn1r113 T C 7: 20,521,535 (GRCm39) V109A probably benign Het
Vmn1r152 A T 7: 22,223,004 (GRCm39) T205S possibly damaging Het
Wdsub1 G A 2: 59,707,149 (GRCm39) P28S probably damaging Het
Ybx2 G T 11: 69,826,767 (GRCm39) probably benign Het
Zfyve1 A T 12: 83,621,909 (GRCm39) V162E probably damaging 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
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'- AAATGATTTGGTAGTCCCTCTCCTC -3'
(R):5'- CAGAACTGACAGGTTTGGGG -3'

Sequencing Primer
(F):5'- CACTTCAGTTTGGCGATCTCTG -3'
(R):5'- GGGGGCTCACAATCTCTTC -3'
Posted On 2015-06-10