Incidental Mutation 'IGL02642:Tle5'
ID 301754
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tle5
Ensembl Gene ENSMUSG00000054452
Gene Name TLE family member 5, transcriptional modulator
Synonyms AES, Aes, Grg, Grg5
Accession Numbers
Essential gene? Probably essential (E-score: 0.882) question?
Stock # IGL02642
Quality Score
Status
Chromosome 10
Chromosomal Location 81395322-81402196 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81397126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 34 (Q34L)
Ref Sequence ENSEMBL: ENSMUSP00000002518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002518]
AlphaFold P63002
Predicted Effect possibly damaging
Transcript: ENSMUST00000002518
AA Change: Q34L

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000002518
Gene: ENSMUSG00000054452
AA Change: Q34L

DomainStartEndE-ValueType
Pfam:TLE_N 2 132 1.3e-75 PFAM
low complexity region 156 171 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219870
Predicted Effect unknown
Transcript: ENSMUST00000220348
AA Change: Q25L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220282
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that belongs to the Aes (amino-terminal enhancer of split) subgroup of the Groucho/transducin-like Enhancer of split (TLE) family of proteins that function as transcriptional corepressors. The encoded protein plays a role in neurological development and cell-fate determination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele display altered mating frequency, abnormal pituitary gland growth and development, and varying degrees of postnatal growth retardation leading to premature death among severely runted individuals. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T C 3: 153,644,720 (GRCm39) D68G probably damaging Het
Amer3 A G 1: 34,625,761 (GRCm39) probably benign Het
Ankrd11 A G 8: 123,617,390 (GRCm39) L2133P probably damaging Het
Bcdin3d G T 15: 99,368,673 (GRCm39) H175Q probably damaging Het
Brd8 C A 18: 34,741,117 (GRCm39) probably benign Het
C1rl C A 6: 124,470,806 (GRCm39) T38N possibly damaging Het
Cd160 T C 3: 96,707,927 (GRCm39) T140A probably benign Het
Cdk16 T G X: 20,563,167 (GRCm39) D381E probably benign Het
Cpq G A 15: 33,381,546 (GRCm39) G303D probably damaging Het
Dmp1 T C 5: 104,359,536 (GRCm39) S71P probably damaging Het
Enc1 A C 13: 97,382,042 (GRCm39) D184A possibly damaging Het
Enkur T C 2: 21,199,198 (GRCm39) D112G probably benign Het
Esrra A T 19: 6,890,218 (GRCm39) V59E possibly damaging Het
F830016B08Rik A G 18: 60,433,058 (GRCm39) N47S probably benign Het
Fads1 T A 19: 10,163,785 (GRCm39) V189D probably damaging Het
Fam167a T A 14: 63,689,721 (GRCm39) I6N probably damaging Het
Fam98b A G 2: 117,090,793 (GRCm39) T164A probably benign Het
Fhip2a A G 19: 57,373,782 (GRCm39) N681D possibly damaging Het
Fryl T A 5: 73,252,809 (GRCm39) I953L probably benign Het
Gm10610 T A 7: 83,198,813 (GRCm39) noncoding transcript Het
Grik5 G T 7: 24,758,408 (GRCm39) N338K possibly damaging Het
Gstt2 A G 10: 75,668,652 (GRCm39) I72T probably benign Het
Gusb T C 5: 130,029,376 (GRCm39) probably null Het
Hccs A G X: 168,098,588 (GRCm39) probably benign Het
Hoxb4 A G 11: 96,211,050 (GRCm39) K217E probably damaging Het
Hpd C T 5: 123,319,503 (GRCm39) V22I possibly damaging Het
Ighv1-47 A G 12: 114,954,844 (GRCm39) Y79H probably damaging Het
Il7r C A 15: 9,513,133 (GRCm39) probably benign Het
Lama1 A T 17: 68,119,361 (GRCm39) M2613L probably benign Het
Lama2 G A 10: 27,343,269 (GRCm39) H68Y probably damaging Het
Lce1c C A 3: 92,587,845 (GRCm39) probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrfn1 T C 7: 28,158,113 (GRCm39) probably benign Het
Lrriq1 T A 10: 103,057,322 (GRCm39) probably null Het
Mri1 A T 8: 84,983,702 (GRCm39) L63Q probably damaging Het
Mrps11 G T 7: 78,438,522 (GRCm39) probably null Het
Mtif2 C A 11: 29,494,395 (GRCm39) Q666K probably benign Het
Mtr A T 13: 12,210,118 (GRCm39) probably benign Het
Mug1 A G 6: 121,859,544 (GRCm39) N1181S probably benign Het
Myom1 A T 17: 71,408,093 (GRCm39) E1209V possibly damaging Het
Nhsl1 A G 10: 18,284,138 (GRCm39) I26M possibly damaging Het
Nlrp1a T A 11: 71,014,358 (GRCm39) K297N probably benign Het
Obox5 T C 7: 15,491,972 (GRCm39) V129A probably benign Het
Pex16 C T 2: 92,206,981 (GRCm39) A53V probably damaging Het
Pfpl T C 19: 12,407,107 (GRCm39) F453L probably damaging Het
Pip5k1b G T 19: 24,323,731 (GRCm39) H406N probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Plcxd3 T C 15: 4,546,122 (GRCm39) F42S possibly damaging Het
Pnpla7 T C 2: 24,940,288 (GRCm39) F1056L probably benign Het
Rapgef1 T C 2: 29,590,872 (GRCm39) probably benign Het
Rdh11 G A 12: 79,232,110 (GRCm39) probably benign Het
Serac1 A G 17: 6,096,021 (GRCm39) F576S possibly damaging Het
Slc45a4 A T 15: 73,458,664 (GRCm39) M295K probably benign Het
Taf1c T C 8: 120,325,796 (GRCm39) T689A probably benign Het
Timm10b G T 7: 105,317,645 (GRCm39) probably benign Het
Tnc A T 4: 63,883,816 (GRCm39) probably benign Het
Toporsl T C 4: 52,611,114 (GRCm39) W336R probably benign Het
Usp54 C A 14: 20,615,140 (GRCm39) probably benign Het
Vmn1r233 T C 17: 21,214,291 (GRCm39) R220G probably damaging Het
Other mutations in Tle5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02929:Tle5 APN 10 81,400,672 (GRCm39) splice site probably null
R0092:Tle5 UTSW 10 81,397,054 (GRCm39) missense possibly damaging 0.69
R2402:Tle5 UTSW 10 81,400,712 (GRCm39) missense possibly damaging 0.68
R3196:Tle5 UTSW 10 81,401,474 (GRCm39) missense probably benign
R4091:Tle5 UTSW 10 81,401,418 (GRCm39) missense probably damaging 1.00
R5999:Tle5 UTSW 10 81,397,098 (GRCm39) missense probably damaging 1.00
R7854:Tle5 UTSW 10 81,401,481 (GRCm39) missense probably damaging 0.97
R8793:Tle5 UTSW 10 81,397,152 (GRCm39) critical splice donor site probably null
R8875:Tle5 UTSW 10 81,400,534 (GRCm39) missense probably benign 0.02
R9374:Tle5 UTSW 10 81,399,988 (GRCm39) missense probably damaging 0.97
R9499:Tle5 UTSW 10 81,399,988 (GRCm39) missense probably damaging 0.97
R9551:Tle5 UTSW 10 81,399,988 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16