Incidental Mutation 'IGL02057:Lef1'
ID 185277
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 # IGL02057
Quality Score
Status
Chromosome 3
Chromosomal Location 130904120-131018005 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 130994051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 342 (Y342*)
Ref Sequence ENSEMBL: ENSMUSP00000101948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029611] [ENSMUST00000066849] [ENSMUST00000098611] [ENSMUST00000106341]
AlphaFold P27782
Predicted Effect probably null
Transcript: ENSMUST00000029611
AA Change: Y370*
SMART Domains Protein: ENSMUSP00000029611
Gene: ENSMUSG00000027985
AA Change: Y370*

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 probably null
Transcript: ENSMUST00000066849
AA Change: Y342*
SMART Domains Protein: ENSMUSP00000067808
Gene: ENSMUSG00000027985
AA Change: Y342*

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 null
Transcript: ENSMUST00000098611
AA Change: Y304*
SMART Domains Protein: ENSMUSP00000096211
Gene: ENSMUSG00000027985
AA Change: Y304*

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 null
Transcript: ENSMUST00000106341
AA Change: Y342*
SMART Domains Protein: ENSMUSP00000101948
Gene: ENSMUSG00000027985
AA Change: Y342*

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,328,072 (GRCm39) N369S probably damaging Het
Atp13a3 C T 16: 30,151,182 (GRCm39) A1043T probably benign Het
AY358078 G A 14: 52,057,762 (GRCm39) V287I unknown Het
Cemip T C 7: 83,636,661 (GRCm39) E324G probably damaging Het
Ckap5 T A 2: 91,431,052 (GRCm39) D1487E possibly damaging Het
Dscam G A 16: 96,517,273 (GRCm39) Q879* probably null Het
Eci2 A G 13: 35,174,759 (GRCm39) L50P probably damaging Het
Erp44 A T 4: 48,236,964 (GRCm39) H65Q probably benign Het
Fahd1 A T 17: 25,068,570 (GRCm39) I169N probably damaging Het
Galm T C 17: 80,488,996 (GRCm39) I214T probably benign Het
Gipc3 T A 10: 81,178,968 (GRCm39) N42Y probably damaging Het
H2-Eb2 A T 17: 34,554,741 (GRCm39) probably benign Het
Itgb3 A T 11: 104,523,174 (GRCm39) I113F probably damaging Het
Lilrb4a G A 10: 51,368,103 (GRCm39) D168N possibly damaging Het
Or51b6b T A 7: 103,309,860 (GRCm39) Y199F probably damaging Het
Or5m10 T A 2: 85,717,275 (GRCm39) F44I probably benign Het
Orc1 T G 4: 108,445,926 (GRCm39) S15A possibly damaging Het
Pdk2 C T 11: 94,919,324 (GRCm39) G317D probably benign Het
Rab37 T C 11: 115,051,543 (GRCm39) S217P probably benign Het
Rere C T 4: 150,699,289 (GRCm39) probably benign Het
Scn11a C T 9: 119,594,536 (GRCm39) G1286S probably damaging Het
Sirt1 A G 10: 63,160,982 (GRCm39) S357P probably damaging Het
Smpdl3b T A 4: 132,461,024 (GRCm39) E351V probably benign Het
Sox6 C A 7: 115,149,310 (GRCm39) G355W probably damaging Het
Spopfm2 T A 3: 94,083,662 (GRCm39) S50C probably damaging Het
Srpk2 G T 5: 23,723,705 (GRCm39) A502E probably damaging Het
Trim67 G A 8: 125,549,869 (GRCm39) V500I probably benign Het
Ube2v2 A G 16: 15,394,922 (GRCm39) V83A probably benign Het
Usp43 A T 11: 67,747,113 (GRCm39) S865T probably benign Het
Vdac1 G A 11: 52,267,371 (GRCm39) probably null Het
Vmn2r69 T A 7: 85,060,990 (GRCm39) H198L possibly damaging Het
Vmn2r93 T C 17: 18,546,032 (GRCm39) C635R probably damaging 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
IGL00780:Lef1 APN 3 130,986,779 (GRCm39) missense possibly damaging 0.69
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 2014-05-07