Incidental Mutation 'IGL00433:Tlcd3a'
ID 4540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlcd3a
Ensembl Gene ENSMUSG00000069808
Gene Name TLC domain containing 3A
Synonyms 4932415L08Rik, 5430420K21Rik, 2310047D13Rik, Wdt3, 5430402E13Rik, Fam57a
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # IGL00433
Quality Score
Status
Chromosome 11
Chromosomal Location 76070497-76100243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76098817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 164 (F164L)
Ref Sequence ENSEMBL: ENSMUSP00000131151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094014] [ENSMUST00000102500] [ENSMUST00000129853] [ENSMUST00000169560] [ENSMUST00000169701]
AlphaFold Q5ND56
Predicted Effect probably damaging
Transcript: ENSMUST00000094014
AA Change: F196L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091553
Gene: ENSMUSG00000069808
AA Change: F196L

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
TLC 33 249 7.47e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127340
Predicted Effect probably damaging
Transcript: ENSMUST00000129853
AA Change: F113L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114936
Gene: ENSMUSG00000069808
AA Change: F113L

DomainStartEndE-ValueType
TLC 1 166 6.2e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169532
Predicted Effect probably damaging
Transcript: ENSMUST00000169560
AA Change: F164L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131151
Gene: ENSMUSG00000069808
AA Change: F164L

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
TLC 33 217 4.92e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169701
SMART Domains Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286

DomainStartEndE-ValueType
Pfam:Glyoxalase_2 143 256 2.7e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-associated protein that promotes lung carcinogenesis. The encoded protein may be involved in amino acid transport and glutathione metabolism since it can interact with a solute carrier family member (SLC3A2) and an isoform of gamma-glutamyltranspeptidase-like 3. An alternatively spliced variant encoding a protein that lacks a 32 aa internal segment showed the opposite effect, inhibiting lung cancer cell growth. Knockdown of this gene also inhibited lung carcinogenesis and tumor cell growth. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G A 15: 94,292,522 (GRCm39) A196V probably benign Het
BC024139 A G 15: 76,009,300 (GRCm39) V238A probably benign Het
Bfar G A 16: 13,516,827 (GRCm39) D350N probably benign Het
C4b A T 17: 34,961,015 (GRCm39) F217Y possibly damaging Het
Camk1g T C 1: 193,029,657 (GRCm39) probably benign Het
Camkmt A G 17: 85,404,094 (GRCm39) probably benign Het
Cass4 T C 2: 172,258,170 (GRCm39) L56P probably damaging Het
Ccs A G 19: 4,875,636 (GRCm39) I243T possibly damaging Het
Cds2 T C 2: 132,139,213 (GRCm39) V152A probably damaging Het
Chd1l T C 3: 97,497,921 (GRCm39) N307D probably damaging Het
Cmtm2b T C 8: 105,057,078 (GRCm39) I146T possibly damaging Het
Cntnap3 T C 13: 64,920,545 (GRCm39) Y608C probably damaging Het
Cog5 A G 12: 31,735,703 (GRCm39) R157G probably damaging Het
Csmd1 A C 8: 16,281,387 (GRCm39) F713V probably damaging Het
Csrp3 T C 7: 48,480,440 (GRCm39) N175D probably benign Het
Exoc4 A G 6: 33,273,723 (GRCm39) D176G probably damaging Het
Fbxo10 T C 4: 45,058,684 (GRCm39) D351G probably damaging Het
Gm12185 A T 11: 48,798,049 (GRCm39) S815T probably benign Het
Gpld1 A G 13: 25,170,905 (GRCm39) probably benign Het
Hspa2 T C 12: 76,453,123 (GRCm39) C606R possibly damaging Het
Leo1 C T 9: 75,357,762 (GRCm39) probably benign Het
Mta3 C T 17: 84,015,861 (GRCm39) P21L probably damaging Het
Pkn1 T C 8: 84,407,635 (GRCm39) E471G probably damaging Het
Postn C T 3: 54,281,149 (GRCm39) R425C probably damaging Het
Reln A G 5: 22,250,007 (GRCm39) L676P probably damaging Het
Sin3a G A 9: 57,005,185 (GRCm39) V362M probably damaging Het
Slc6a7 C T 18: 61,134,363 (GRCm39) probably null Het
Smc6 A T 12: 11,349,264 (GRCm39) D749V possibly damaging Het
Smg5 C T 3: 88,258,735 (GRCm39) Q569* probably null Het
Sspo G A 6: 48,466,970 (GRCm39) C4130Y probably damaging Het
Tnn A T 1: 159,925,776 (GRCm39) probably benign Het
Tomt C T 7: 101,551,393 (GRCm39) R29H probably benign Het
Uggt2 A T 14: 119,250,899 (GRCm39) D1199E probably benign Het
Usp33 A G 3: 152,079,046 (GRCm39) K433E probably benign Het
Vmn2r89 A G 14: 51,692,422 (GRCm39) Y75C probably damaging Het
Wnt7a C T 6: 91,342,973 (GRCm39) G303D probably damaging Het
Other mutations in Tlcd3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01520:Tlcd3a APN 11 76,098,051 (GRCm39) critical splice donor site probably null
IGL02320:Tlcd3a APN 11 76,096,231 (GRCm39) missense probably damaging 1.00
R3110:Tlcd3a UTSW 11 76,093,057 (GRCm39) missense probably benign 0.01
R3112:Tlcd3a UTSW 11 76,093,057 (GRCm39) missense probably benign 0.01
R6452:Tlcd3a UTSW 11 76,097,972 (GRCm39) nonsense probably null
R8554:Tlcd3a UTSW 11 76,096,244 (GRCm39) missense probably damaging 1.00
R8784:Tlcd3a UTSW 11 76,098,941 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20