Incidental Mutation 'R6827:Lef1'
ID 534198
Institutional Source Beutler Lab
Gene Symbol Lef1
Ensembl Gene ENSMUSG00000027985
Gene Name lymphoid enhancer binding factor 1
Synonyms lymphoid enhancer factor 1, Lef-1
MMRRC Submission 044938-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6827 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 130904120-131018005 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 130994053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000029611
Gene: ENSMUSG00000027985

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
SMART Domains Protein: ENSMUSP00000067808
Gene: ENSMUSG00000027985

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
SMART Domains Protein: ENSMUSP00000096211
Gene: ENSMUSG00000027985

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
SMART Domains Protein: ENSMUSP00000101948
Gene: ENSMUSG00000027985

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
Meta Mutation Damage Score 0.9491 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 97% (36/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef26 C A 3: 62,330,919 (GRCm39) probably null Het
Asb3 A G 11: 31,051,211 (GRCm39) N555S probably benign Het
Bcr T C 10: 74,966,896 (GRCm39) V501A probably damaging Het
Cchcr1 A G 17: 35,841,302 (GRCm39) T773A possibly damaging Het
Dmxl1 C T 18: 50,054,091 (GRCm39) P2566S probably damaging Het
Dscam T A 16: 96,840,191 (GRCm39) N139Y probably damaging Het
Ephx1 A G 1: 180,817,453 (GRCm39) L406P probably damaging Het
Fbxl13 T A 5: 21,727,176 (GRCm39) I607F probably damaging Het
Gm3573 T A 14: 42,010,429 (GRCm39) T59S probably benign Het
Gm572 T C 4: 148,742,543 (GRCm39) L94P possibly damaging Het
Gypa A T 8: 81,231,417 (GRCm39) M109L probably benign Het
Hk3 C A 13: 55,159,165 (GRCm39) V409L probably damaging Het
Kcnh6 A G 11: 105,899,925 (GRCm39) T65A probably benign Het
Kdr G T 5: 76,105,205 (GRCm39) P1055Q probably damaging Het
Lrrc10 A G 10: 116,881,545 (GRCm39) Q73R possibly damaging Het
Moxd1 C T 10: 24,155,748 (GRCm39) T284I probably benign Het
Naf1 A T 8: 67,330,343 (GRCm39) T290S possibly damaging Het
Naip5 C A 13: 100,382,437 (GRCm39) V91L possibly damaging Het
Ncaph2 T C 15: 89,255,530 (GRCm39) V568A probably damaging Het
Ntrk2 T C 13: 59,274,382 (GRCm39) W753R probably damaging Het
Or51v15-ps1 C A 7: 103,279,032 (GRCm39) C45F possibly damaging Het
Pbld1 C A 10: 62,903,212 (GRCm39) N96K probably damaging Het
Pcdhac2 G A 18: 37,277,706 (GRCm39) V229M probably benign Het
Prrc2b G T 2: 32,090,963 (GRCm39) R445L probably benign Het
Scyl2 T C 10: 89,505,666 (GRCm39) probably null Het
Sdf2l1 C G 16: 16,950,158 (GRCm39) R6P probably benign Het
Slc22a5 A T 11: 53,762,442 (GRCm39) I21N possibly damaging Het
Tex51 C T 18: 32,591,713 (GRCm39) W186* probably null Het
Tmem168 A T 6: 13,582,837 (GRCm39) F297L probably damaging Het
Trpm4 T C 7: 44,968,052 (GRCm39) E293G possibly damaging Het
Trps1 T A 15: 50,685,959 (GRCm39) T69S probably benign Het
Ubxn4 T C 1: 128,204,714 (GRCm39) M468T probably benign Het
Unc5b C A 10: 60,616,011 (GRCm39) R104L probably benign Het
Wfdc3 C T 2: 164,576,178 (GRCm39) G38R possibly damaging Het
Wnt2b A G 3: 104,854,408 (GRCm39) V350A probably benign Het
Zfp518b T C 5: 38,828,882 (GRCm39) Q1041R probably damaging Het
Zranb1 T C 7: 132,551,474 (GRCm39) F68L 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
IGL00780:Lef1 APN 3 130,986,779 (GRCm39) missense possibly damaging 0.69
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
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
Predicted Primers PCR Primer
(F):5'- CATTCTTGGAGTGTGAAGCG -3'
(R):5'- CGTTTTACAGAGAAAACTCACAGC -3'

Sequencing Primer
(F):5'- AAGCGTGAGGTGCCTTGC -3'
(R):5'- CAGAATGCAATGTACTCATGACATC -3'
Posted On 2018-09-12