Incidental Mutation 'R6879:Tlcd2'
ID 536563
Institutional Source Beutler Lab
Gene Symbol Tlcd2
Ensembl Gene ENSMUSG00000038217
Gene Name TLC domain containing 2
Synonyms 2010305C02Rik
MMRRC Submission 044975-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R6879 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 75358771-75361725 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75360514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 186 (W186R)
Ref Sequence ENSEMBL: ENSMUSP00000042958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043598] [ENSMUST00000108435]
AlphaFold Q8VC26
Predicted Effect probably damaging
Transcript: ENSMUST00000043598
AA Change: W186R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042958
Gene: ENSMUSG00000038217
AA Change: W186R

DomainStartEndE-ValueType
transmembrane domain 4 21 N/A INTRINSIC
TLC 33 226 2.08e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108435
SMART Domains Protein: ENSMUSP00000104074
Gene: ENSMUSG00000038217

DomainStartEndE-ValueType
transmembrane domain 4 21 N/A INTRINSIC
TLC 33 185 4.41e-13 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 A G 10: 80,442,621 (GRCm39) D153G probably damaging Het
Agap1 A T 1: 89,694,177 (GRCm39) I492F probably benign Het
Arhgap31 G A 16: 38,422,676 (GRCm39) T1130I probably benign Het
Atg2a T A 19: 6,301,882 (GRCm39) C923S possibly damaging Het
B3gnt8 C A 7: 25,328,277 (GRCm39) Q236K probably benign Het
Bptf T G 11: 106,933,516 (GRCm39) I261L probably benign Het
Cacna1s T C 1: 136,043,697 (GRCm39) F1592S probably benign Het
Catspere2 A T 1: 177,926,338 (GRCm39) T335S possibly damaging Het
Cops7a A T 6: 124,935,748 (GRCm39) probably null Het
Defb10 A G 8: 22,351,898 (GRCm39) I48V probably benign Het
Gabrg3 A C 7: 57,031,387 (GRCm39) L51R probably damaging Het
Gins2 G A 8: 121,312,850 (GRCm39) T96M probably damaging Het
Gm11568 A G 11: 99,749,053 (GRCm39) Q86R unknown Het
Il33 T C 19: 29,936,362 (GRCm39) V224A probably damaging Het
Kcnh3 C A 15: 99,136,048 (GRCm39) Q682K probably damaging Het
Kif19a A G 11: 114,672,159 (GRCm39) I249V probably benign Het
Kif26a T C 12: 112,144,087 (GRCm39) V1447A probably benign Het
Klhdc10 T A 6: 30,449,589 (GRCm39) M217K probably damaging Het
Mcc T C 18: 44,945,179 (GRCm39) S18G unknown Het
Mical1 A T 10: 41,360,515 (GRCm39) Q651H probably damaging Het
Mpdz G A 4: 81,266,893 (GRCm39) T340I possibly damaging Het
Or5b95 T C 19: 12,658,135 (GRCm39) I221T probably benign Het
Or6c202 T G 10: 128,996,848 (GRCm39) K2Q probably benign Het
Pira12 A T 7: 3,899,961 (GRCm39) S214T probably benign Het
Plekha6 A T 1: 133,187,793 (GRCm39) M105L possibly damaging Het
Ppp4r4 T A 12: 103,518,179 (GRCm39) probably null Het
Samd12 T C 15: 53,521,826 (GRCm39) N128S probably benign Het
Six6 A G 12: 72,987,298 (GRCm39) K157E probably benign Het
Slc13a3 C A 2: 165,272,221 (GRCm39) G274V probably damaging Het
Slc25a54 T A 3: 109,020,150 (GRCm39) V388E possibly damaging Het
Smad2 A G 18: 76,395,725 (GRCm39) T55A possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats2 T C 15: 99,071,293 (GRCm39) V39A probably damaging Het
Stk32b A G 5: 37,647,867 (GRCm39) I167T possibly damaging Het
Taf1b T A 12: 24,550,516 (GRCm39) C34S possibly damaging Het
Tex2 T C 11: 106,424,836 (GRCm39) E812G unknown Het
Txn2 G A 15: 77,803,922 (GRCm39) probably benign Het
Uggt2 T C 14: 119,239,271 (GRCm39) K1387R probably benign Het
Unc79 T A 12: 103,115,046 (GRCm39) probably null Het
Usp21 T C 1: 171,110,077 (GRCm39) D538G probably damaging Het
Zfp109 C T 7: 23,928,615 (GRCm39) E265K probably benign Het
Zfp263 A G 16: 3,567,719 (GRCm39) H390R probably damaging Het
Other mutations in Tlcd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Tlcd2 APN 11 75,360,337 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGAACCTTGCCTGCAGGTAG -3'
(R):5'- AACAGGCTCACGTGTCTTG -3'

Sequencing Primer
(F):5'- AGCACCGCTGTTGTGTC -3'
(R):5'- GGTTTCCTTGTGCATGAGGATAAAC -3'
Posted On 2018-10-18