Incidental Mutation 'IGL01377:Mlf2'
ID 78761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mlf2
Ensembl Gene ENSMUSG00000030120
Gene Name myeloid leukemia factor 2
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.847) question?
Stock # IGL01377
Quality Score
Status
Chromosome 6
Chromosomal Location 124908351-124913112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124911654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 168 (N168D)
Ref Sequence ENSEMBL: ENSMUSP00000135920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032214] [ENSMUST00000180095] [ENSMUST00000203021] [ENSMUST00000203133]
AlphaFold Q99KX1
Predicted Effect probably damaging
Transcript: ENSMUST00000032214
AA Change: N168D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032214
Gene: ENSMUSG00000030120
AA Change: N168D

DomainStartEndE-ValueType
Pfam:Mlf1IP 24 199 3.5e-84 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180095
AA Change: N168D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135920
Gene: ENSMUSG00000030120
AA Change: N168D

DomainStartEndE-ValueType
Pfam:Mlf1IP 11 198 5.6e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203021
SMART Domains Protein: ENSMUSP00000145163
Gene: ENSMUSG00000030120

DomainStartEndE-ValueType
Pfam:Mlf1IP 1 93 9.6e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203060
Predicted Effect probably benign
Transcript: ENSMUST00000203133
SMART Domains Protein: ENSMUSP00000145283
Gene: ENSMUSG00000030120

DomainStartEndE-ValueType
Pfam:Mlf1IP 14 116 2.8e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204815
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,460,108 (GRCm39) V196D probably damaging Het
Ago1 C T 4: 126,353,610 (GRCm39) V279M probably damaging Het
Bltp1 T C 3: 37,027,601 (GRCm39) probably null Het
Ccdc170 A G 10: 4,510,966 (GRCm39) D675G probably damaging Het
Cdc42bpa T A 1: 179,892,708 (GRCm39) Y291N probably damaging Het
Cdca5 T C 19: 6,140,312 (GRCm39) S158P probably damaging Het
Cdh8 A G 8: 99,760,021 (GRCm39) I576T probably damaging Het
Cpsf2 T A 12: 101,953,640 (GRCm39) probably null Het
Cyc1 C T 15: 76,229,162 (GRCm39) R143* probably null Het
Dcaf6 A T 1: 165,216,293 (GRCm39) S437T probably benign Het
Eif5b A G 1: 38,075,179 (GRCm39) D552G probably benign Het
Epor T C 9: 21,870,593 (GRCm39) D429G probably damaging Het
Farp2 A G 1: 93,531,181 (GRCm39) I560V possibly damaging Het
Fbxw21 T A 9: 108,975,713 (GRCm39) R228* probably null Het
Fyb1 T C 15: 6,609,801 (GRCm39) S125P probably benign Het
Gfm1 A T 3: 67,382,086 (GRCm39) Y720F probably damaging Het
Hspbap1 T A 16: 35,645,681 (GRCm39) D455E possibly damaging Het
Katnal2 T C 18: 77,090,153 (GRCm39) R285G probably damaging Het
Kif12 G A 4: 63,088,962 (GRCm39) T153I probably damaging Het
Klhl31 T C 9: 77,558,013 (GRCm39) F243S probably benign Het
Large2 A G 2: 92,199,676 (GRCm39) Y208H probably damaging Het
Lrp1b A G 2: 40,491,550 (GRCm39) V239A probably damaging Het
Mblac2 G A 13: 81,898,266 (GRCm39) R214H probably damaging Het
Mtmr6 T A 14: 60,519,483 (GRCm39) Y134* probably null Het
Mtus1 T C 8: 41,536,172 (GRCm39) K515E possibly damaging Het
Nek1 A G 8: 61,542,490 (GRCm39) T718A probably benign Het
Nfx1 A G 4: 40,977,241 (GRCm39) N305S probably benign Het
Nrxn3 T A 12: 89,499,782 (GRCm39) probably null Het
Nsf T C 11: 103,763,473 (GRCm39) D377G probably damaging Het
Pde4b A G 4: 102,344,599 (GRCm39) E102G probably damaging Het
Pdlim4 G T 11: 53,947,130 (GRCm39) S56R probably benign Het
Poc5 T C 13: 96,538,139 (GRCm39) V268A probably benign Het
Sec23b A C 2: 144,401,157 (GRCm39) E6A probably damaging Het
Sgsm1 A T 5: 113,424,048 (GRCm39) probably benign Het
Slc16a12 T A 19: 34,650,084 (GRCm39) N317I possibly damaging Het
Slc1a7 A T 4: 107,850,162 (GRCm39) D91V probably damaging Het
Slc30a9 T G 5: 67,473,173 (GRCm39) S86A probably benign Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tacr1 T C 6: 82,380,636 (GRCm39) S16P probably benign Het
Tmtc1 A C 6: 148,147,285 (GRCm39) V804G possibly damaging Het
Ttc7b A G 12: 100,321,371 (GRCm39) F587L probably benign Het
Vmn2r86 A T 10: 130,288,855 (GRCm39) D215E probably damaging Het
Other mutations in Mlf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03088:Mlf2 APN 6 124,910,945 (GRCm39) missense probably damaging 1.00
R0730:Mlf2 UTSW 6 124,911,354 (GRCm39) missense probably damaging 1.00
R3018:Mlf2 UTSW 6 124,909,467 (GRCm39) missense probably benign
R8770:Mlf2 UTSW 6 124,911,259 (GRCm39) missense probably benign 0.01
R9062:Mlf2 UTSW 6 124,911,334 (GRCm39) splice site silent
R9726:Mlf2 UTSW 6 124,911,621 (GRCm39) missense probably benign 0.05
RF008:Mlf2 UTSW 6 124,911,259 (GRCm39) missense probably benign 0.01
Z1177:Mlf2 UTSW 6 124,911,269 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05