Incidental Mutation 'IGL02320:Tlcd3a'
ID 288191
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 # IGL02320
Quality Score
Status
Chromosome 11
Chromosomal Location 76070497-76100243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76096231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 120 (M120V)
Ref Sequence ENSEMBL: ENSMUSP00000131151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094014] [ENSMUST00000129853] [ENSMUST00000169560]
AlphaFold Q5ND56
Predicted Effect probably damaging
Transcript: ENSMUST00000094014
AA Change: M120V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091553
Gene: ENSMUSG00000069808
AA Change: M120V

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
TLC 33 249 7.47e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127340
Predicted Effect possibly damaging
Transcript: ENSMUST00000129853
AA Change: M37V

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114936
Gene: ENSMUSG00000069808
AA Change: M37V

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: M120V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131151
Gene: ENSMUSG00000069808
AA Change: M120V

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
TLC 33 217 4.92e-11 SMART
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,445,961 (GRCm39) S146P probably damaging Het
Ap1m2 A T 9: 21,210,620 (GRCm39) Y336* probably null Het
Arap1 T C 7: 101,034,236 (GRCm39) L226P probably benign Het
Cacna1c T A 6: 118,614,753 (GRCm39) N1150Y probably damaging Het
Ccsap G T 8: 124,569,177 (GRCm39) H221Q probably damaging Het
Ceacam3 T A 7: 16,895,865 (GRCm39) Y612N probably benign Het
Col12a1 A G 9: 79,523,303 (GRCm39) probably null Het
Ddx23 T C 15: 98,548,819 (GRCm39) T328A possibly damaging Het
Depdc1a T A 3: 159,222,570 (GRCm39) M252K probably damaging Het
Fpr2 A C 17: 18,113,608 (GRCm39) R201S probably benign Het
Ighv1-20 A G 12: 114,687,463 (GRCm39) S94P probably damaging Het
Itgb7 A C 15: 102,132,772 (GRCm39) V180G probably benign Het
Mmp13 G T 9: 7,278,941 (GRCm39) R344L probably benign Het
Mucl3 A T 17: 35,948,332 (GRCm39) N422K probably benign Het
Ncam2 C T 16: 81,231,725 (GRCm39) S63L probably damaging Het
Or5p52 C T 7: 107,502,038 (GRCm39) T38I possibly damaging Het
Pde9a G A 17: 31,678,059 (GRCm39) C187Y probably damaging Het
Sh2b1 A G 7: 126,068,341 (GRCm39) L490P probably benign Het
Shank2 A G 7: 143,974,681 (GRCm39) T1193A probably damaging Het
Shisa2 T A 14: 59,867,246 (GRCm39) M166K probably damaging Het
Smg7 A T 1: 152,744,088 (GRCm39) S40T possibly damaging Het
Spef2 A C 15: 9,717,662 (GRCm39) S285A probably damaging Het
Trgv7 C A 13: 19,362,249 (GRCm39) P13Q unknown Het
Ttn A G 2: 76,769,656 (GRCm39) probably benign Het
Tyw5 A G 1: 57,435,884 (GRCm39) probably null Het
Vars2 A G 17: 35,971,346 (GRCm39) V212A probably benign Het
Vmn2r1 T C 3: 63,989,180 (GRCm39) S40P possibly damaging Het
Wwc2 A G 8: 48,316,882 (GRCm39) probably null Het
Zbed6 T C 1: 133,585,411 (GRCm39) N642S probably damaging Het
Zfp423 A T 8: 88,508,230 (GRCm39) C580S probably damaging Het
Zfp64 A G 2: 168,768,118 (GRCm39) V498A probably damaging Het
Other mutations in Tlcd3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Tlcd3a APN 11 76,098,817 (GRCm39) missense probably damaging 1.00
IGL01520:Tlcd3a APN 11 76,098,051 (GRCm39) critical splice donor site probably null
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 2015-04-16