Incidental Mutation 'R1203:Tlcd5'
ID 100266
Institutional Source Beutler Lab
Gene Symbol Tlcd5
Ensembl Gene ENSMUSG00000048503
Gene Name TLC domain containing 5
Synonyms LOC235300, Tmem136
MMRRC Submission 039273-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1203 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 43019945-43027865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43022775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 193 (V193A)
Ref Sequence ENSEMBL: ENSMUSP00000150692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061833] [ENSMUST00000213544] [ENSMUST00000216126]
AlphaFold Q3TYE7
Predicted Effect probably benign
Transcript: ENSMUST00000061833
AA Change: V193A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000051435
Gene: ENSMUSG00000048503
AA Change: V193A

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
TLC 29 225 7.82e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213544
AA Change: V193A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215898
Predicted Effect probably benign
Transcript: ENSMUST00000216126
AA Change: V175A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Meta Mutation Damage Score 0.1241 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.4%
  • 10x: 95.6%
  • 20x: 89.3%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,588,818 (GRCm39) R78S probably damaging Het
Aadacl3 T C 4: 144,190,140 (GRCm39) T54A probably benign Het
Adcy8 A G 15: 64,618,780 (GRCm39) I791T probably damaging Het
Aldh1b1 A G 4: 45,803,359 (GRCm39) D299G probably damaging Het
Aoah A G 13: 21,000,764 (GRCm39) E66G probably damaging Het
Atl2 G T 17: 80,160,334 (GRCm39) H418N probably damaging Het
Atp6v1d A G 12: 78,908,214 (GRCm39) I7T possibly damaging Het
Calhm3 C T 19: 47,143,839 (GRCm39) V155M probably damaging Het
Carmil1 A T 13: 24,282,989 (GRCm39) I105K probably damaging Het
Csrp3 C A 7: 48,489,278 (GRCm39) M1I probably null Het
Dnah10 T A 5: 124,837,078 (GRCm39) probably null Het
Dnah11 T C 12: 117,897,547 (GRCm39) N3561S possibly damaging Het
Dzip3 A T 16: 48,772,180 (GRCm39) D496E probably damaging Het
Eif2ak1 T C 5: 143,820,797 (GRCm39) V246A probably benign Het
Fam171b T A 2: 83,643,313 (GRCm39) V74E probably benign Het
Gm14137 C T 2: 119,005,605 (GRCm39) R55W probably damaging Het
Gm4950 T C 18: 51,998,830 (GRCm39) I42V probably benign Het
Gpr35 T C 1: 92,910,870 (GRCm39) V194A probably damaging Het
Kdm5d C T Y: 941,011 (GRCm39) S1132F probably damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Ncln A G 10: 81,332,027 (GRCm39) V24A possibly damaging Het
Nphp4 A G 4: 152,573,289 (GRCm39) K76E probably damaging Het
Nsf CAATAATAATAATAATA CAATAATAATAATAATAATA 11: 103,816,952 (GRCm39) probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or52h2 A T 7: 103,839,060 (GRCm39) L118* probably null Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Pcbd2 G A 13: 55,880,881 (GRCm39) probably null Het
Rapgef6 T A 11: 54,582,525 (GRCm39) V1479D probably benign Het
Rnf43 T C 11: 87,618,301 (GRCm39) probably benign Het
Robo3 A G 9: 37,329,978 (GRCm39) W1113R probably damaging Het
Sall1 A T 8: 89,758,562 (GRCm39) V514E probably damaging Het
Sgpp1 A G 12: 75,763,056 (GRCm39) I375T probably benign Het
Strc T C 2: 121,202,604 (GRCm39) N1187S possibly damaging Het
Tbc1d17 G A 7: 44,492,895 (GRCm39) R363W probably damaging Het
Tbcd A G 11: 121,366,451 (GRCm39) Q242R probably benign Het
Tbcel A C 9: 42,362,947 (GRCm39) V50G probably damaging Het
Tead3 C T 17: 28,560,536 (GRCm39) A23T probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmem241 G T 18: 12,217,035 (GRCm39) probably benign Het
Tmtc3 G T 10: 100,312,606 (GRCm39) T79K probably damaging Het
Utrn A G 10: 12,362,281 (GRCm39) V241A probably damaging Het
Vps8 A T 16: 21,330,307 (GRCm39) I729F probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Other mutations in Tlcd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00658:Tlcd5 APN 9 43,024,786 (GRCm39) missense probably benign
IGL02010:Tlcd5 APN 9 43,022,859 (GRCm39) missense probably damaging 1.00
IGL02649:Tlcd5 APN 9 43,022,783 (GRCm39) missense probably benign 0.00
R0363:Tlcd5 UTSW 9 43,023,048 (GRCm39) missense probably damaging 1.00
R0694:Tlcd5 UTSW 9 43,022,921 (GRCm39) nonsense probably null
R1534:Tlcd5 UTSW 9 43,022,923 (GRCm39) missense probably damaging 1.00
R3956:Tlcd5 UTSW 9 43,022,808 (GRCm39) missense probably damaging 0.99
R6044:Tlcd5 UTSW 9 43,024,903 (GRCm39) missense probably benign 0.33
R7437:Tlcd5 UTSW 9 43,023,080 (GRCm39) nonsense probably null
R8025:Tlcd5 UTSW 9 43,022,848 (GRCm39) missense probably benign 0.44
R9031:Tlcd5 UTSW 9 43,022,664 (GRCm39) missense probably benign
R9032:Tlcd5 UTSW 9 43,022,664 (GRCm39) missense probably benign
R9079:Tlcd5 UTSW 9 43,022,664 (GRCm39) missense probably benign
R9080:Tlcd5 UTSW 9 43,022,664 (GRCm39) missense probably benign
R9084:Tlcd5 UTSW 9 43,022,664 (GRCm39) missense probably benign
R9086:Tlcd5 UTSW 9 43,022,664 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAATCCAATCCACTGACTGGGGAC -3'
(R):5'- TGGCTCATCACACACTGAGCATC -3'

Sequencing Primer
(F):5'- ACAAGCCTTGACTAGTGTGTC -3'
(R):5'- ACAGAGGTCAATGCTGTACTC -3'
Posted On 2014-01-15