Incidental Mutation 'R3736:Lef1'
ID 270106
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 040723-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3736 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 130904120-131018005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130984715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 160 (P160S)
Ref Sequence ENSEMBL: ENSMUSP00000096211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029611] [ENSMUST00000066849] [ENSMUST00000098611] [ENSMUST00000106341]
AlphaFold P27782
Predicted Effect probably benign
Transcript: ENSMUST00000029611
AA Change: P226S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029611
Gene: ENSMUSG00000027985
AA Change: P226S

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 possibly damaging
Transcript: ENSMUST00000098611
AA Change: P160S

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096211
Gene: ENSMUSG00000027985
AA Change: P160S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198624
Meta Mutation Damage Score 0.1403 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (53/53)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G A 7: 29,273,996 (GRCm39) noncoding transcript Het
Acot12 T A 13: 91,932,465 (GRCm39) I487N probably benign Het
Acox3 A G 5: 35,768,497 (GRCm39) K686R probably benign Het
Adgrf2 T C 17: 43,021,903 (GRCm39) E307G probably benign Het
Ang2 G A 14: 51,433,113 (GRCm39) R90* probably null Het
Ankrd11 A T 8: 123,618,524 (GRCm39) V1776D probably damaging Het
Atp12a G A 14: 56,611,884 (GRCm39) V353I possibly damaging Het
Bbs7 A G 3: 36,661,819 (GRCm39) Y127H possibly damaging Het
C8a T C 4: 104,674,812 (GRCm39) E509G probably benign Het
Ccdc158 A C 5: 92,780,283 (GRCm39) L930R possibly damaging Het
Ccdc162 T C 10: 41,465,564 (GRCm39) probably null Het
Cep170b A T 12: 112,707,438 (GRCm39) I395F probably damaging Het
Cimip2c A T 5: 30,639,442 (GRCm39) Y123F probably benign Het
Clcn3 T A 8: 61,436,686 (GRCm39) probably benign Het
Ctps1 T C 4: 120,400,943 (GRCm39) T459A probably benign Het
Cyp2j8 T A 4: 96,332,836 (GRCm39) R503S probably damaging Het
Dync1h1 G A 12: 110,598,109 (GRCm39) V1767I probably benign Het
Evi5 A T 5: 107,966,849 (GRCm39) V224D probably damaging Het
F8 G A X: 74,254,981 (GRCm39) P2138S probably damaging Het
Helq T G 5: 100,938,054 (GRCm39) D464A possibly damaging Het
Irag1 A G 7: 110,523,170 (GRCm39) V297A probably benign Het
Irag2 G A 6: 145,106,596 (GRCm39) probably benign Het
Kcnk10 A G 12: 98,456,171 (GRCm39) V203A probably benign Het
Lyn G T 4: 3,745,330 (GRCm39) W78C probably damaging Het
Med12l T A 3: 58,998,916 (GRCm39) H614Q probably damaging Het
Mogs C A 6: 83,093,757 (GRCm39) T242K possibly damaging Het
Morc3 T A 16: 93,671,700 (GRCm39) V910E probably damaging Het
Ncapg A T 5: 45,853,469 (GRCm39) Q906L probably benign Het
Nup210l A G 3: 90,027,320 (GRCm39) Y234C probably damaging Het
Olr1 T A 6: 129,476,838 (GRCm39) probably benign Het
Or5p76 A G 7: 108,122,626 (GRCm39) V177A possibly damaging Het
Osmr A T 15: 6,851,561 (GRCm39) Y656N probably damaging Het
Pde4dip A T 3: 97,631,427 (GRCm39) F1161I probably damaging Het
Poc5 A G 13: 96,533,324 (GRCm39) S151G probably damaging Het
Rmnd5a T C 6: 71,373,846 (GRCm39) D316G possibly damaging Het
Shroom3 T C 5: 93,112,303 (GRCm39) V1888A possibly damaging Het
Shtn1 A T 19: 59,010,700 (GRCm39) S256T probably benign Het
Sptlc2 G A 12: 87,388,339 (GRCm39) A381V probably benign Het
Suclg2 T A 6: 95,474,677 (GRCm39) I363F probably damaging Het
Tas2r134 C A 2: 51,517,786 (GRCm39) N88K probably damaging Het
Tbc1d32 A G 10: 56,005,189 (GRCm39) Y815H probably damaging Het
Tnrc6b G C 15: 80,773,364 (GRCm39) probably benign Het
Vti1a T A 19: 55,369,364 (GRCm39) probably null Het
Zfp273 T A 13: 67,973,626 (GRCm39) C251* probably null Het
Zfp683 C A 4: 133,784,742 (GRCm39) Q330K probably benign Het
Zfpm1 G A 8: 123,050,475 (GRCm39) C117Y possibly damaging Het
Zscan4d T C 7: 10,896,803 (GRCm39) N189S 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
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
Predicted Primers PCR Primer
(F):5'- CCGAGTTGTAACAATGTTGGGG -3'
(R):5'- CACGGTAGGTGGTAGTGAATTC -3'

Sequencing Primer
(F):5'- AACAATGTTGGGGGTGGC -3'
(R):5'- CAATGGTTCCTGGTGCCCTG -3'
Posted On 2015-03-18