Incidental Mutation 'R5247:Tle7'
ID 401195
Institutional Source Beutler Lab
Gene Symbol Tle7
Ensembl Gene ENSMUSG00000095941
Gene Name TLE family member 7
Synonyms Gm21964
MMRRC Submission 042818-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R5247 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 110827964-110838646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110837209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 299 (F299S)
Ref Sequence ENSEMBL: ENSMUSP00000151787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178785] [ENSMUST00000213641] [ENSMUST00000219454]
AlphaFold A0A1W2P7S4
Predicted Effect probably damaging
Transcript: ENSMUST00000178785
AA Change: F173S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136968
Gene: ENSMUSG00000095941
AA Change: F173S

DomainStartEndE-ValueType
WD40 18 55 3.9e-2 SMART
WD40 65 104 2.3e0 SMART
WD40 108 146 4.13e0 SMART
WD40 149 186 7.92e1 SMART
Blast:WD40 189 227 3e-12 BLAST
WD40 269 308 1.49e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000213641
AA Change: F292S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000219454
AA Change: F299S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar A T 1: 72,719,343 (GRCm39) V502E probably benign Het
Atad2 A T 15: 57,967,874 (GRCm39) L585* probably null Het
Atp6v0a2 T C 5: 124,790,241 (GRCm39) S475P probably damaging Het
Cacng1 T C 11: 107,607,105 (GRCm39) H38R probably benign Het
Ccdc168 A C 1: 44,096,166 (GRCm39) L1644* probably null Het
Celsr2 A G 3: 108,304,946 (GRCm39) V2168A probably benign Het
Cnot4 C T 6: 35,028,351 (GRCm39) V422I probably damaging Het
Col1a1 T C 11: 94,838,013 (GRCm39) probably null Het
Cspg4b A T 13: 113,455,993 (GRCm39) I680F probably damaging Het
Ctcfl A T 2: 172,955,402 (GRCm39) C287S probably damaging Het
Eps8l1 T A 7: 4,473,401 (GRCm39) D133E probably damaging Het
Fam161b A G 12: 84,404,524 (GRCm39) L52P probably damaging Het
Fam98c T C 7: 28,855,126 (GRCm39) E99G possibly damaging Het
Fmn2 A T 1: 174,648,794 (GRCm39) I1574L probably benign Het
Gabrb3 T A 7: 57,240,339 (GRCm39) L8Q possibly damaging Het
Hck A T 2: 152,976,615 (GRCm39) K250* probably null Het
Herc1 A G 9: 66,341,833 (GRCm39) E1874G probably benign Het
Igf2 G T 7: 142,207,668 (GRCm39) A143D possibly damaging Het
Isg20l2 A G 3: 87,838,920 (GRCm39) N44D possibly damaging Het
Kdm7a T A 6: 39,121,390 (GRCm39) Q855L probably benign Het
Kif15 T C 9: 122,815,507 (GRCm39) S434P possibly damaging Het
Klrc3 A T 6: 129,618,425 (GRCm39) N119K probably damaging Het
L3mbtl3 T C 10: 26,203,706 (GRCm39) M375V unknown Het
Lpcat4 A G 2: 112,072,860 (GRCm39) H173R possibly damaging Het
Mapk13 A T 17: 28,996,725 (GRCm39) Q264L probably benign Het
Mrps18c C G 5: 100,946,659 (GRCm39) C8W probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nlrp4b T A 7: 10,448,145 (GRCm39) I116N probably benign Het
Or10h1 A G 17: 33,418,504 (GRCm39) T161A probably benign Het
Or5b124 T A 19: 13,610,778 (GRCm39) F101Y probably damaging Het
Prdm1 A T 10: 44,316,098 (GRCm39) H679Q probably damaging Het
Prickle2 T A 6: 92,352,950 (GRCm39) S839C probably damaging Het
Rps19 T A 7: 24,584,878 (GRCm39) S36T probably damaging Het
Serpinb1a T A 13: 33,034,389 (GRCm39) M1L probably damaging Het
Slc16a7 A T 10: 125,067,183 (GRCm39) M152K probably damaging Het
Srpk3 C T X: 72,818,555 (GRCm39) R82* probably null Het
Stx18 A T 5: 38,263,977 (GRCm39) Y141F probably damaging Het
Tgfb2 A T 1: 186,382,111 (GRCm39) probably null Het
Tmem151b A T 17: 45,856,571 (GRCm39) Y290N probably damaging Het
Ttn G A 2: 76,558,766 (GRCm39) T29705M probably damaging Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Usp19 T G 9: 108,373,264 (GRCm39) probably null Het
Other mutations in Tle7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1724:Tle7 UTSW 8 110,836,795 (GRCm39) missense probably damaging 1.00
R4761:Tle7 UTSW 8 110,836,753 (GRCm39) missense probably damaging 1.00
R5451:Tle7 UTSW 8 110,836,503 (GRCm39) missense probably damaging 0.97
R7148:Tle7 UTSW 8 110,836,048 (GRCm39) missense probably benign 0.42
R8077:Tle7 UTSW 8 110,836,735 (GRCm39) missense probably damaging 1.00
R8157:Tle7 UTSW 8 110,835,493 (GRCm39) missense probably benign 0.00
R8891:Tle7 UTSW 8 110,836,763 (GRCm39) missense possibly damaging 0.74
R9649:Tle7 UTSW 8 110,837,580 (GRCm39) missense probably damaging 1.00
R9686:Tle7 UTSW 8 110,836,563 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCCTTCATGGCAGTAGGAC -3'
(R):5'- CAGCATTCAAGACTGCCAGG -3'

Sequencing Primer
(F):5'- CTTCATGGCAGTAGGACTATACC -3'
(R):5'- TTCAAGACTGCCAGGGCCAC -3'
Posted On 2016-07-06