Incidental Mutation 'IGL00780:Lef1'
ID 11746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lef1
Ensembl Gene ENSMUSG00000027985
Gene Name lymphoid enhancer binding factor 1
Synonyms lymphoid enhancer factor 1, Lef-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00780
Quality Score
Status
Chromosome 3
Chromosomal Location 130904120-131018005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130986779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 212 (F212L)
Ref Sequence ENSEMBL: ENSMUSP00000067808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029611] [ENSMUST00000066849] [ENSMUST00000098611] [ENSMUST00000106341]
AlphaFold P27782
Predicted Effect probably benign
Transcript: ENSMUST00000029611
AA Change: F240L

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029611
Gene: ENSMUSG00000027985
AA Change: F240L

DomainStartEndE-ValueType
Pfam:CTNNB1_binding 1 211 5e-88 PFAM
low complexity region 245 259 N/A INTRINSIC
HMG 296 366 7.68e-23 SMART
low complexity region 372 380 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000066849
AA Change: F212L

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000067808
Gene: ENSMUSG00000027985
AA Change: F212L

DomainStartEndE-ValueType
Pfam:CTNNB1_binding 1 211 1e-75 PFAM
low complexity region 217 231 N/A INTRINSIC
HMG 268 338 7.68e-23 SMART
low complexity region 344 352 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098611
AA Change: F174L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000096211
Gene: ENSMUSG00000027985
AA Change: F174L

DomainStartEndE-ValueType
Pfam:CTNNB1_binding 1 145 2.8e-54 PFAM
low complexity region 179 193 N/A INTRINSIC
HMG 230 300 7.68e-23 SMART
low complexity region 306 314 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106341
AA Change: F212L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101948
Gene: ENSMUSG00000027985
AA Change: F212L

DomainStartEndE-ValueType
Pfam:CTNNB1_binding 1 211 1.3e-75 PFAM
low complexity region 217 231 N/A INTRINSIC
HMG 268 338 7.68e-23 SMART
low complexity region 344 352 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198624
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereby conferring maximal enhancer activity. This transcription factor is involved in the Wnt signaling pathway, and it may function in hair cell differentiation and follicle morphogenesis. Mutations in this gene have been found in somatic sebaceous tumors. This gene has also been linked to other cancers, including androgen-independent prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null allele are small and die postnatally showing lack of teeth, mammary and uterine glands, whiskers, body hair, dermal-associated fat, and a dentate gyrus, as well as defects in hippocampus morphology, hair follicle development, retinal vasculature, and vascular regression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,423,168 (GRCm39) D440G probably null Het
Acvrl1 T A 15: 101,035,248 (GRCm39) F258Y probably damaging Het
Ano1 A G 7: 144,209,367 (GRCm39) S278P probably damaging Het
Aoc1l3 A G 6: 48,964,673 (GRCm39) D227G probably damaging Het
AW146154 T C 7: 41,129,883 (GRCm39) Y411C probably damaging Het
Blnk T A 19: 40,922,890 (GRCm39) K412M probably benign Het
Clpb C T 7: 101,427,815 (GRCm39) R387* probably null Het
Dach1 A T 14: 98,138,858 (GRCm39) N528K possibly damaging Het
Dag1 A T 9: 108,086,818 (GRCm39) W108R probably damaging Het
Elapor2 A G 5: 9,472,367 (GRCm39) T355A probably damaging Het
Fbn2 T C 18: 58,229,060 (GRCm39) T717A probably damaging Het
Fnbp1l T C 3: 122,342,898 (GRCm39) D394G possibly damaging Het
Gaa T A 11: 119,165,117 (GRCm39) probably null Het
Gpr158 A T 2: 21,831,629 (GRCm39) K910* probably null Het
Grb14 G A 2: 64,745,062 (GRCm39) P99S probably damaging Het
Gtf2h2 T C 13: 100,615,729 (GRCm39) D264G probably benign Het
Heatr3 A G 8: 88,897,568 (GRCm39) I667V probably benign Het
Hsp90ab1 T C 17: 45,880,490 (GRCm39) N407S probably damaging Het
Htr2a A T 14: 74,943,645 (GRCm39) L408F possibly damaging Het
Itgb5 G A 16: 33,705,345 (GRCm39) V212I probably damaging Het
Kmt2c G A 5: 25,516,049 (GRCm39) T2598I probably benign Het
Lcorl T C 5: 45,904,637 (GRCm39) N137S probably damaging Het
Map2k5 T C 9: 63,188,359 (GRCm39) probably benign Het
Med15 G A 16: 17,471,351 (GRCm39) T642I probably damaging Het
Nasp C A 4: 116,461,196 (GRCm39) E274* probably null Het
Nup210l A T 3: 90,098,156 (GRCm39) probably benign Het
Pgghg T C 7: 140,525,264 (GRCm39) probably null Het
Plpp1 A G 13: 112,988,040 (GRCm39) I54M probably damaging Het
Poldip3 C T 15: 83,022,680 (GRCm39) G35R probably damaging Het
Ppig A T 2: 69,563,268 (GRCm39) E81D possibly damaging Het
Ptpn21 G T 12: 98,646,630 (GRCm39) T999K probably damaging Het
Rad9b T C 5: 122,482,310 (GRCm39) I142V probably benign Het
Ralgps1 A T 2: 33,163,639 (GRCm39) H139Q probably damaging Het
Rdh16f2 T C 10: 127,710,961 (GRCm39) probably null Het
Sema3d G A 5: 12,574,293 (GRCm39) R265Q probably damaging Het
Tdp1 T C 12: 99,859,907 (GRCm39) V198A possibly damaging Het
Trim43c A T 9: 88,723,909 (GRCm39) D145V probably benign Het
Trpc4 C T 3: 54,209,596 (GRCm39) P654S probably damaging Het
Yy1 T G 12: 108,781,463 (GRCm39) I376S probably damaging Het
Zfp773 T A 7: 7,136,113 (GRCm39) Q161L probably benign Het
Other mutations in Lef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Lef1 APN 3 130,907,499 (GRCm39) splice site probably benign
IGL00515:Lef1 APN 3 130,997,926 (GRCm39) missense probably damaging 1.00
IGL02057:Lef1 APN 3 130,994,051 (GRCm39) nonsense probably null
IGL02556:Lef1 APN 3 130,988,442 (GRCm39) splice site probably null
IGL02804:Lef1 APN 3 130,988,338 (GRCm39) missense probably damaging 1.00
IGL03143:Lef1 APN 3 130,993,965 (GRCm39) nonsense probably null
IGL03169:Lef1 APN 3 130,988,312 (GRCm39) missense probably damaging 1.00
R0470:Lef1 UTSW 3 130,906,475 (GRCm39) intron probably benign
R1354:Lef1 UTSW 3 130,988,317 (GRCm39) missense probably damaging 1.00
R1677:Lef1 UTSW 3 130,993,938 (GRCm39) splice site probably benign
R1860:Lef1 UTSW 3 130,905,290 (GRCm39) missense probably damaging 0.99
R2013:Lef1 UTSW 3 130,905,236 (GRCm39) missense probably damaging 0.98
R2015:Lef1 UTSW 3 130,905,236 (GRCm39) missense probably damaging 0.98
R3440:Lef1 UTSW 3 130,978,407 (GRCm39) missense probably damaging 1.00
R3736:Lef1 UTSW 3 130,984,715 (GRCm39) missense possibly damaging 0.51
R3918:Lef1 UTSW 3 130,905,290 (GRCm39) missense probably damaging 0.99
R4052:Lef1 UTSW 3 130,988,338 (GRCm39) missense probably damaging 1.00
R4346:Lef1 UTSW 3 130,988,357 (GRCm39) missense probably damaging 1.00
R4608:Lef1 UTSW 3 130,978,382 (GRCm39) missense probably benign 0.00
R4764:Lef1 UTSW 3 130,978,382 (GRCm39) missense probably benign 0.00
R4786:Lef1 UTSW 3 130,905,173 (GRCm39) missense probably damaging 0.99
R5298:Lef1 UTSW 3 130,988,316 (GRCm39) missense possibly damaging 0.80
R5394:Lef1 UTSW 3 130,988,308 (GRCm39) missense probably damaging 1.00
R6827:Lef1 UTSW 3 130,994,053 (GRCm39) critical splice donor site probably null
R6893:Lef1 UTSW 3 130,909,149 (GRCm39) missense possibly damaging 0.77
R6974:Lef1 UTSW 3 130,905,223 (GRCm39) missense probably damaging 1.00
R7541:Lef1 UTSW 3 130,984,748 (GRCm39) missense probably benign 0.00
R7544:Lef1 UTSW 3 130,988,414 (GRCm39) missense probably damaging 1.00
R7652:Lef1 UTSW 3 130,994,003 (GRCm39) missense probably damaging 1.00
R8074:Lef1 UTSW 3 130,997,954 (GRCm39) critical splice donor site probably null
R8348:Lef1 UTSW 3 130,906,461 (GRCm39) start codon destroyed probably benign 0.02
R8543:Lef1 UTSW 3 130,909,138 (GRCm39) missense possibly damaging 0.92
R8762:Lef1 UTSW 3 130,988,366 (GRCm39) missense probably damaging 1.00
Z1176:Lef1 UTSW 3 130,993,972 (GRCm39) missense probably damaging 1.00
Z1177:Lef1 UTSW 3 130,986,830 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06