Incidental Mutation 'IGL03143:Lef1'
ID 410782
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 # IGL03143
Quality Score
Status
Chromosome 3
Chromosomal Location 130904120-131018005 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 130993965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 314 (E314*)
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: E342*
SMART Domains Protein: ENSMUSP00000029611
Gene: ENSMUSG00000027985
AA Change: E342*

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: E314*
SMART Domains Protein: ENSMUSP00000067808
Gene: ENSMUSG00000027985
AA Change: E314*

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: E276*
SMART Domains Protein: ENSMUSP00000096211
Gene: ENSMUSG00000027985
AA Change: E276*

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: E314*
SMART Domains Protein: ENSMUSP00000101948
Gene: ENSMUSG00000027985
AA Change: E314*

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 T G 9: 121,738,333 (GRCm39) L236R probably damaging Het
Agbl1 C T 7: 76,069,793 (GRCm39) Q442* probably null Het
Ahrr G A 13: 74,405,614 (GRCm39) Q108* probably null Het
Ankrd23 T C 1: 36,570,726 (GRCm39) probably benign Het
Art5 A G 7: 101,747,104 (GRCm39) I225T probably damaging Het
Asxl3 T C 18: 22,656,031 (GRCm39) V1347A probably benign Het
Birc6 A G 17: 74,905,994 (GRCm39) M1326V possibly damaging Het
Bpifb6 A C 2: 153,744,655 (GRCm39) N32T probably damaging Het
Brip1 T A 11: 85,952,653 (GRCm39) T1043S possibly damaging Het
Cbx5 A T 15: 103,121,532 (GRCm39) V35E probably damaging Het
Ccdc175 T A 12: 72,182,832 (GRCm39) M396L probably benign Het
Ceacam3 G T 7: 16,892,045 (GRCm39) E263* probably null Het
Cyp4a12a A G 4: 115,159,200 (GRCm39) T157A probably benign Het
Dennd11 A T 6: 40,399,828 (GRCm39) probably benign Het
Derl3 T C 10: 75,730,324 (GRCm39) V129A possibly damaging Het
Dnajb1 T C 8: 84,335,103 (GRCm39) I48T probably damaging Het
Dop1b G A 16: 93,556,543 (GRCm39) E349K probably benign Het
Fkbp10 A T 11: 100,313,580 (GRCm39) I285F probably benign Het
Frrs1 A T 3: 116,692,836 (GRCm39) T37S probably damaging Het
Gata2 A G 6: 88,181,677 (GRCm39) Y377C probably damaging Het
Gm9789 T A 16: 88,954,883 (GRCm39) probably benign Het
Itpkb T A 1: 180,160,933 (GRCm39) V353D probably benign Het
Kcng4 T C 8: 120,352,509 (GRCm39) E467G probably damaging Het
Kdm3a A T 6: 71,573,845 (GRCm39) I906N probably damaging Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lamc1 A T 1: 153,208,020 (GRCm39) L89Q probably benign Het
Lpin3 T C 2: 160,745,518 (GRCm39) probably benign Het
Mrtfb A G 16: 13,218,676 (GRCm39) N452D possibly damaging Het
Naaladl1 C T 19: 6,164,896 (GRCm39) T628I possibly damaging Het
Nell1 C T 7: 49,929,281 (GRCm39) Q259* probably null Het
Neu2 G T 1: 87,524,698 (GRCm39) E228* probably null Het
Or5b119 A T 19: 13,456,835 (GRCm39) H242Q probably damaging Het
Or5k15 A G 16: 58,709,824 (GRCm39) F253S probably damaging Het
Or8g21 T G 9: 38,906,732 (GRCm39) probably benign Het
Or8k20 T C 2: 86,106,580 (GRCm39) N84D probably benign Het
Osbpl6 T A 2: 76,378,716 (GRCm39) D124E probably damaging Het
Palm T C 10: 79,652,617 (GRCm39) probably benign Het
Parp8 C A 13: 117,047,497 (GRCm39) probably benign Het
Pax7 A G 4: 139,556,798 (GRCm39) probably benign Het
Pcnx3 G A 19: 5,735,423 (GRCm39) R468W probably damaging Het
Pds5b T A 5: 150,702,722 (GRCm39) V818D probably damaging Het
Piezo2 C T 18: 63,241,147 (GRCm39) V694I probably damaging Het
Plk1 A G 7: 121,760,877 (GRCm39) probably benign Het
Polb T C 8: 23,130,367 (GRCm39) probably benign Het
Rad54b A G 4: 11,599,755 (GRCm39) T320A probably damaging Het
Reg3b G A 6: 78,349,183 (GRCm39) W103* probably null Het
Slc17a3 T G 13: 24,039,962 (GRCm39) probably null Het
Snrnp200 C T 2: 127,071,962 (GRCm39) probably benign Het
Stox2 T A 8: 47,646,839 (GRCm39) H207L possibly damaging Het
Tbx15 A C 3: 99,259,514 (GRCm39) M462L possibly damaging Het
Tcirg1 G A 19: 3,948,811 (GRCm39) T458I probably damaging Het
Tnfrsf25 A G 4: 152,201,384 (GRCm39) probably benign Het
Trank1 A G 9: 111,195,155 (GRCm39) K1060E probably damaging Het
Ttc16 T C 2: 32,664,457 (GRCm39) D3G possibly damaging Het
Vmn1r199 A C 13: 22,567,299 (GRCm39) N155H probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I 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
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 2016-08-02