Incidental Mutation 'IGL01137:Tlcd2'
ID 52367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlcd2
Ensembl Gene ENSMUSG00000038217
Gene Name TLC domain containing 2
Synonyms 2010305C02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL01137
Quality Score
Status
Chromosome 11
Chromosomal Location 75358771-75361725 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75360337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 127 (Y127H)
Ref Sequence ENSEMBL: ENSMUSP00000104074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043598] [ENSMUST00000108435]
AlphaFold Q8VC26
Predicted Effect probably damaging
Transcript: ENSMUST00000043598
AA Change: Y127H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000042958
Gene: ENSMUSG00000038217
AA Change: Y127H

DomainStartEndE-ValueType
transmembrane domain 4 21 N/A INTRINSIC
TLC 33 226 2.08e-41 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108435
AA Change: Y127H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104074
Gene: ENSMUSG00000038217
AA Change: Y127H

DomainStartEndE-ValueType
transmembrane domain 4 21 N/A INTRINSIC
TLC 33 185 4.41e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149940
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153236
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,292,492 (GRCm39) probably null Het
Ankrd11 T C 8: 123,611,075 (GRCm39) T2583A probably damaging Het
Anxa7 G A 14: 20,506,648 (GRCm39) Q431* probably null Het
Asb15 T A 6: 24,556,521 (GRCm39) D5E probably benign Het
Bex1 C A X: 135,115,243 (GRCm39) D29Y probably damaging Het
Cadm2 G A 16: 66,612,238 (GRCm39) T108I probably damaging Het
Cecr2 T G 6: 120,738,989 (GRCm39) L1211V probably damaging Het
Cntn2 T C 1: 132,449,035 (GRCm39) probably benign Het
Ctrc C A 4: 141,566,065 (GRCm39) V198L possibly damaging Het
Cyp2g1 A G 7: 26,513,684 (GRCm39) S208G possibly damaging Het
Ddx46 T A 13: 55,817,530 (GRCm39) Y718* probably null Het
Dlec1 T C 9: 118,966,379 (GRCm39) I1116T probably damaging Het
Dnajc13 A G 9: 104,037,689 (GRCm39) Y2177H probably benign Het
Dpp6 T C 5: 27,919,486 (GRCm39) F661S probably damaging Het
Dpy19l2 G A 9: 24,569,858 (GRCm39) T365I possibly damaging Het
Flot2 T C 11: 77,940,333 (GRCm39) Y27H probably damaging Het
Gsta4 T C 9: 78,113,204 (GRCm39) Y95H possibly damaging Het
Kir3dl1 A G X: 135,427,360 (GRCm39) T192A probably damaging Het
Llgl1 T A 11: 60,600,825 (GRCm39) N640K probably benign Het
Lrch1 C T 14: 74,994,532 (GRCm39) V691M probably damaging Het
Myh9 T C 15: 77,653,742 (GRCm39) D1302G probably benign Het
Myo18a T G 11: 77,718,655 (GRCm39) F935V probably damaging Het
Mypn T C 10: 62,988,633 (GRCm39) E464G probably benign Het
Or52l1 A G 7: 104,829,695 (GRCm39) V290A probably benign Het
Or5ac25 A C 16: 59,182,335 (GRCm39) M82R probably benign Het
Or5b101 A T 19: 13,005,394 (GRCm39) F100I possibly damaging Het
Or8k38 A T 2: 86,488,055 (GRCm39) I249N possibly damaging Het
R3hdm1 C T 1: 128,109,612 (GRCm39) R39C probably damaging Het
Rps3a3 A T 13: 108,807,666 (GRCm39) probably benign Het
Sec24b C T 3: 129,801,093 (GRCm39) S401N probably benign Het
Slc22a22 C A 15: 57,117,674 (GRCm39) G289V probably damaging Het
Stk33 T C 7: 108,928,775 (GRCm39) I246V probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Timmdc1 A T 16: 38,338,747 (GRCm39) H114Q probably benign Het
Tnfrsf11a G A 1: 105,737,147 (GRCm39) D85N possibly damaging Het
Trbc2 T C 6: 41,524,751 (GRCm39) probably benign Het
Unc13b G A 4: 43,091,291 (GRCm39) R39H probably damaging Het
Vwa8 T C 14: 79,341,087 (GRCm39) L1521P probably damaging Het
Zbtb17 T A 4: 141,193,678 (GRCm39) C607* probably null Het
Other mutations in Tlcd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4382001:Tlcd2 UTSW 11 75,359,417 (GRCm39) missense probably benign 0.08
R5094:Tlcd2 UTSW 11 75,360,640 (GRCm39) missense probably benign 0.00
R6879:Tlcd2 UTSW 11 75,360,514 (GRCm39) missense probably damaging 1.00
R8770:Tlcd2 UTSW 11 75,360,630 (GRCm39) missense probably damaging 1.00
R9516:Tlcd2 UTSW 11 75,359,112 (GRCm39) missense probably damaging 0.96
R9774:Tlcd2 UTSW 11 75,359,131 (GRCm39) missense probably damaging 0.99
Z1177:Tlcd2 UTSW 11 75,360,596 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21