Incidental Mutation 'R8074:Lef1'
ID 620395
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 067508-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8074 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 130904120-131018005 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 130997954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029611] [ENSMUST00000066849] [ENSMUST00000098611] [ENSMUST00000106341]
AlphaFold P27782
PDB Structure LEF1 HMG DOMAIN (FROM MOUSE), COMPLEXED WITH DNA (15BP), NMR, 12 STRUCTURES [SOLUTION NMR]
Structure of beta-catenin with Lef-1 [X-RAY DIFFRACTION]
Structure of beta-catenin with phosphorylated Lef-1 [X-RAY DIFFRACTION]
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 benign
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 benign
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 benign
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (62/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,829,320 (GRCm39) I1380L probably benign Het
Adcy3 T C 12: 4,184,420 (GRCm39) V32A probably benign Het
Ano3 T A 2: 110,780,577 (GRCm39) probably benign Het
Arhgef12 G A 9: 42,882,399 (GRCm39) R1482* probably null Het
Cd300lg T G 11: 101,932,427 (GRCm39) L4R probably damaging Het
Cfap57 T A 4: 118,426,822 (GRCm39) K1072M possibly damaging Het
Clasp1 G T 1: 118,390,213 (GRCm39) M132I probably benign Het
Clec18a T G 8: 111,798,230 (GRCm39) D489A probably damaging Het
Cngb1 A G 8: 95,978,801 (GRCm39) S551P Het
Efna4 G A 3: 89,242,633 (GRCm39) T87M probably benign Het
Fam229b T C 10: 38,996,255 (GRCm39) R42G probably null Het
Gm17175 C T 14: 51,809,080 (GRCm39) M95I probably damaging Het
Grk4 A G 5: 34,833,482 (GRCm39) E96G probably benign Het
Helb A C 10: 119,925,321 (GRCm39) F1019V probably benign Het
Hsd17b2 T C 8: 118,485,440 (GRCm39) V301A possibly damaging Het
Htr1b A G 9: 81,513,582 (GRCm39) F342L probably benign Het
Idua C A 5: 108,828,441 (GRCm39) A265E possibly damaging Het
Jup T G 11: 100,277,113 (GRCm39) T32P probably damaging Het
Kidins220 A G 12: 25,107,715 (GRCm39) K1632E probably benign Het
Lypla2 A G 4: 135,697,112 (GRCm39) probably null Het
Mall A G 2: 127,571,785 (GRCm39) M1T probably null Het
Mettl25 G T 10: 105,661,941 (GRCm39) A343E probably benign Het
Mpdz T C 4: 81,267,324 (GRCm39) N940S probably benign Het
Nsun4 A T 4: 115,908,631 (GRCm39) V643D possibly damaging Het
Nupr1 A T 7: 126,224,109 (GRCm39) F70Y possibly damaging Het
Or1e17 T A 11: 73,831,213 (GRCm39) V47D possibly damaging Het
Or52b4i A G 7: 102,191,830 (GRCm39) H229R probably benign Het
Or52e8 A T 7: 104,624,934 (GRCm39) I90N probably damaging Het
Or5ac20 A G 16: 59,104,549 (GRCm39) F104L probably benign Het
Or8g32 A T 9: 39,305,242 (GRCm39) I49F probably damaging Het
Or8k3 C G 2: 86,058,473 (GRCm39) V281L possibly damaging Het
Pabpc4 A T 4: 123,180,508 (GRCm39) M77L probably benign Het
Phactr3 A G 2: 177,944,589 (GRCm39) E429G probably damaging Het
Polr3b A G 10: 84,549,523 (GRCm39) D915G probably damaging Het
Pramel14 A T 4: 143,718,424 (GRCm39) F340I probably benign Het
Prkcg T A 7: 3,372,037 (GRCm39) M501K probably damaging Het
Prkch G A 12: 73,747,041 (GRCm39) A307T possibly damaging Het
Ptprt A G 2: 161,769,581 (GRCm39) V428A possibly damaging Het
Rnf145 C A 11: 44,448,263 (GRCm39) D373E probably damaging Het
Scfd2 G T 5: 74,680,257 (GRCm39) Q299K probably benign Het
Septin2 A G 1: 93,433,283 (GRCm39) D315G probably benign Het
Sf3a1 T A 11: 4,125,435 (GRCm39) Y408* probably null Het
Siglecf A T 7: 43,001,214 (GRCm39) N61Y possibly damaging Het
Sis A T 3: 72,824,531 (GRCm39) I1334K probably damaging Het
Slc38a6 A T 12: 73,391,658 (GRCm39) T307S possibly damaging Het
Spag9 T A 11: 94,002,877 (GRCm39) F1129Y probably damaging Het
Sra1 G A 18: 36,808,064 (GRCm39) A388V possibly damaging Het
Srpk1 T G 17: 28,840,990 (GRCm39) K12T probably damaging Het
Stam2 A T 2: 52,596,438 (GRCm39) I333K probably damaging Het
Tle1 GAA GA 4: 72,057,216 (GRCm39) probably null Het
Tmem121b T C 6: 120,469,869 (GRCm39) K283E possibly damaging Het
Tmem200a T C 10: 25,868,850 (GRCm39) E473G probably damaging Het
Tnxb T A 17: 34,922,955 (GRCm39) S2513T probably benign Het
Ttc16 A T 2: 32,664,135 (GRCm39) probably benign Het
Ttll8 C T 15: 88,799,578 (GRCm39) C621Y probably damaging Het
Ubn2 T A 6: 38,417,475 (GRCm39) M171K probably benign Het
Vmn2r19 T A 6: 123,312,904 (GRCm39) V658D probably damaging Het
Vmn2r6 A T 3: 64,455,064 (GRCm39) probably benign Het
Vwa3a A T 7: 120,398,321 (GRCm39) I941L probably benign Het
Zbtb24 A G 10: 41,327,228 (GRCm39) D38G probably damaging Het
Zfp628 T C 7: 4,923,205 (GRCm39) C476R probably damaging Het
Zfp831 A C 2: 174,486,528 (GRCm39) N401T possibly 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
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
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'- CACTTGCAGAGTCCGTACAG -3'
(R):5'- TCTCTACAGGCACATTCACACTG -3'

Sequencing Primer
(F):5'- CTTGCAGAGTCCGTACAGACAGG -3'
(R):5'- TCTACAGGCACATTCACACTGAAAAG -3'
Posted On 2020-01-23