Incidental Mutation 'IGL00658:Tlcd5'
ID 14489
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlcd5
Ensembl Gene ENSMUSG00000048503
Gene Name TLC domain containing 5
Synonyms LOC235300, Tmem136
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00658
Quality Score
Status
Chromosome 9
Chromosomal Location 43019945-43027865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43024786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 57 (I57V)
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: I57V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051435
Gene: ENSMUSG00000048503
AA Change: I57V

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
TLC 29 225 7.82e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213544
AA Change: I57V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213648
Predicted Effect probably benign
Transcript: ENSMUST00000216126
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T A 8: 44,021,940 (GRCm39) M517L probably benign Het
Alms1 A G 6: 85,605,943 (GRCm39) E2531G probably damaging Het
Apob A T 12: 8,059,471 (GRCm39) H2618L probably benign Het
Cfap69 A T 5: 5,675,857 (GRCm39) D252E probably damaging Het
Gm904 G T 13: 50,798,758 (GRCm39) A76S possibly damaging Het
Kansl1 G A 11: 104,248,352 (GRCm39) T534I probably benign Het
Ripor1 C T 8: 106,344,749 (GRCm39) probably benign Het
Scn1a T C 2: 66,116,382 (GRCm39) Q1439R probably damaging Het
Serpina3i T A 12: 104,231,429 (GRCm39) V22D possibly damaging Het
Slc22a2 A T 17: 12,834,202 (GRCm39) D490V probably benign Het
Ttn G A 2: 76,727,616 (GRCm39) probably benign Het
Vegfc T C 8: 54,609,983 (GRCm39) probably benign Het
Other mutations in Tlcd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1203:Tlcd5 UTSW 9 43,022,775 (GRCm39) missense probably benign 0.09
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
Posted On 2012-12-06