Incidental Mutation 'R8918:Mcl1'
ID 679039
Institutional Source Beutler Lab
Gene Symbol Mcl1
Ensembl Gene ENSMUSG00000038612
Gene Name myeloid cell leukemia sequence 1
Synonyms Mcl-1
MMRRC Submission 068705-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8918 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 95566099-95570487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95567192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 251 (F251S)
Ref Sequence ENSEMBL: ENSMUSP00000044048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037947] [ENSMUST00000178686]
AlphaFold P97287
PDB Structure Solution structure of MCL-1 [SOLUTION NMR]
Solution structure of MCL-1 complexed with NOXAB [SOLUTION NMR]
Crystal structure of the Mcl-1:Bim BH3 complex [X-RAY DIFFRACTION]
Crystal structure of the Mcl-1:mNoxaB BH3 complex [X-RAY DIFFRACTION]
Solution structure of Mcl-1 Complexed with Puma [SOLUTION NMR]
Solution Structure of MCL-1 Complexed with NoxaA [SOLUTION NMR]
Crystal structure of Mcl-1 in complex with an Mcl-1 selective BH3 ligand [X-RAY DIFFRACTION]
BimL12Y in complex with Mcl-1 [X-RAY DIFFRACTION]
Mcl-1 bound to alpha beta Puma BH3 peptide 2 [X-RAY DIFFRACTION]
Mcl-1 bound to alpha beta Puma BH3 peptide 3 [X-RAY DIFFRACTION]
>> 1 additional structures at PDB <<
Predicted Effect probably damaging
Transcript: ENSMUST00000037947
AA Change: F251S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044048
Gene: ENSMUSG00000038612
AA Change: F251S

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
low complexity region 35 65 N/A INTRINSIC
low complexity region 86 106 N/A INTRINSIC
low complexity region 145 152 N/A INTRINSIC
BCL 194 293 7.1e-38 SMART
low complexity region 312 327 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178686
AA Change: F205S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135915
Gene: ENSMUSG00000038612
AA Change: F205S

DomainStartEndE-ValueType
low complexity region 40 60 N/A INTRINSIC
low complexity region 99 106 N/A INTRINSIC
BCL 148 247 7.1e-38 SMART
low complexity region 266 281 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygotes for a targeted null mutation form blastocysts which die around the time of implantation and fail to hatch in vitro. Conditional mutants shows increased apoptosis of B and T lymphocytes and arrested lymphocyte development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,333,315 (GRCm39) F480L probably damaging Het
Actr6 A T 10: 89,553,057 (GRCm39) I267N probably damaging Het
Ank2 A G 3: 126,737,380 (GRCm39) S2835P unknown Het
Arfgef3 C T 10: 18,511,453 (GRCm39) R753Q probably benign Het
Arid3a A G 10: 79,784,765 (GRCm39) T285A probably benign Het
Atad5 T C 11: 79,986,473 (GRCm39) V520A probably benign Het
Atoh1 T G 6: 64,707,241 (GRCm39) L312R probably damaging Het
Brd10 T C 19: 29,696,841 (GRCm39) K884R possibly damaging Het
Cpt1a T C 19: 3,408,258 (GRCm39) V179A Het
Crocc2 C A 1: 93,129,144 (GRCm39) N816K possibly damaging Het
Csf2ra A T 19: 61,214,721 (GRCm39) V201D probably damaging Het
Dok1 C T 6: 83,008,324 (GRCm39) V453I probably benign Het
Elp4 A G 2: 105,662,600 (GRCm39) S175P probably benign Het
Erh G T 12: 80,684,282 (GRCm39) A65E probably benign Het
Etl4 G A 2: 20,748,733 (GRCm39) S357N probably benign Het
Etl4 A G 2: 20,811,246 (GRCm39) T1478A probably benign Het
Gabra1 A G 11: 42,026,320 (GRCm39) F324S probably damaging Het
Gm11437 T C 11: 84,043,530 (GRCm39) T254A probably benign Het
Gria2 T C 3: 80,599,706 (GRCm39) E726G probably damaging Het
Gstm2 A T 3: 107,892,382 (GRCm39) C115S possibly damaging Het
Ighv1-12 T C 12: 114,579,553 (GRCm39) T90A probably damaging Het
Inf2 A G 12: 112,572,703 (GRCm39) I690V unknown Het
Kdm3b A G 18: 34,970,650 (GRCm39) N1739S probably damaging Het
Lrp1b A T 2: 40,615,893 (GRCm39) N3614K Het
Mapk8ip3 A G 17: 25,131,727 (GRCm39) L404P probably damaging Het
Mdn1 T A 4: 32,744,579 (GRCm39) L4038* probably null Het
Mmp8 T C 9: 7,561,485 (GRCm39) V163A probably benign Het
Myo18b C T 5: 113,022,873 (GRCm39) probably benign Het
Ndst1 C T 18: 60,825,083 (GRCm39) R745H probably benign Het
Or4d2b A G 11: 87,780,284 (GRCm39) V146A probably benign Het
Or8c18 T C 9: 38,203,385 (GRCm39) F48S probably benign Het
Pard3 C T 8: 128,098,011 (GRCm39) R351C probably benign Het
Pcdhgb4 A G 18: 37,855,648 (GRCm39) D681G probably damaging Het
Pde10a G A 17: 9,160,063 (GRCm39) A163T possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pelp1 A G 11: 70,296,505 (GRCm39) L123S probably damaging Het
Plekhh2 A G 17: 84,906,621 (GRCm39) D1152G possibly damaging Het
Rag1 T C 2: 101,472,098 (GRCm39) T1015A probably benign Het
Rock2 C T 12: 16,990,422 (GRCm39) Q115* probably null Het
Rorb T A 19: 18,915,356 (GRCm39) H434L probably damaging Het
Safb2 A T 17: 56,882,975 (GRCm39) C219* probably null Het
Sema3a A G 5: 13,573,099 (GRCm39) H209R probably damaging Het
Serpinb9g T G 13: 33,679,131 (GRCm39) S334A probably benign Het
Slc5a9 T A 4: 111,741,147 (GRCm39) M500L probably benign Het
Snap91 A G 9: 86,651,611 (GRCm39) S810P unknown Het
Spink5 G T 18: 44,100,087 (GRCm39) A35S probably damaging Het
Stxbp5l G A 16: 36,954,892 (GRCm39) T887I Het
Tacc2 T C 7: 130,227,823 (GRCm39) F1503L probably benign Het
Tectb A G 19: 55,180,000 (GRCm39) E272G probably damaging Het
Trdn A T 10: 33,015,117 (GRCm39) I24F probably benign Het
Tshr G A 12: 91,504,211 (GRCm39) S383N probably benign Het
Tspan1 C A 4: 116,020,970 (GRCm39) C149F probably damaging Het
Ttn A T 2: 76,570,862 (GRCm39) L26677Q probably damaging Het
Ush2a T A 1: 188,270,017 (GRCm39) F1755I possibly damaging Het
Vps13d T A 4: 144,772,873 (GRCm39) I4047F Het
Zfp1010 A C 2: 176,958,551 (GRCm39) S29R probably benign Het
Zfp369 T A 13: 65,443,529 (GRCm39) L336* probably null Het
Zfp518a A C 19: 40,901,870 (GRCm39) K600Q possibly damaging Het
Zfp984 T C 4: 147,840,623 (GRCm39) H76R possibly damaging Het
Zscan10 G A 17: 23,826,116 (GRCm39) G138S probably benign Het
Other mutations in Mcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5685:Mcl1 UTSW 3 95,567,109 (GRCm39) missense possibly damaging 0.76
R7055:Mcl1 UTSW 3 95,567,110 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTGCCTGACTGCTCTAGAG -3'
(R):5'- AGGTGCCTTCTCCTTCACAAAATC -3'

Sequencing Primer
(F):5'- TCTAGAGCCGGGAGAGCAC -3'
(R):5'- TTCACAAAATCCTGCACCCCATTTC -3'
Posted On 2021-08-02