Incidental Mutation 'R3764:Tlcd3b'
ID 271813
Institutional Source Beutler Lab
Gene Symbol Tlcd3b
Ensembl Gene ENSMUSG00000058966
Gene Name TLC domain containing 3B
Synonyms A330104J06Rik, Fam57b, 1500016O10Rik
MMRRC Submission 040741-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3764 (G1)
Quality Score 215
Status Validated
Chromosome 7
Chromosomal Location 126413213-126429391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126426685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 36 (I36T)
Ref Sequence ENSEMBL: ENSMUSP00000145721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061695] [ENSMUST00000079423] [ENSMUST00000098032] [ENSMUST00000205324] [ENSMUST00000205722] [ENSMUST00000207020]
AlphaFold Q7TNV1
Predicted Effect probably benign
Transcript: ENSMUST00000061695
SMART Domains Protein: ENSMUSP00000049614
Gene: ENSMUSG00000045989

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000079423
AA Change: I86T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000078392
Gene: ENSMUSG00000058966
AA Change: I86T

DomainStartEndE-ValueType
TLC 34 261 1.2e-46 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098032
AA Change: I86T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095640
Gene: ENSMUSG00000058966
AA Change: I86T

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
TLC 34 261 8.37e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205320
Predicted Effect probably damaging
Transcript: ENSMUST00000205324
AA Change: I86T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect possibly damaging
Transcript: ENSMUST00000205722
AA Change: I86T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205907
Predicted Effect probably damaging
Transcript: ENSMUST00000207020
AA Change: I36T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.0781 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.3%
Validation Efficiency 100% (29/29)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn G A 17: 14,066,851 (GRCm39) A648T probably benign Het
Cadm3 C T 1: 173,174,064 (GRCm39) V50I probably damaging Het
Catspere2 A T 1: 177,940,698 (GRCm39) T687S unknown Het
Cubn T A 2: 13,336,396 (GRCm39) I2477F possibly damaging Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dhx15 G A 5: 52,324,074 (GRCm39) P406L probably benign Het
Eif4e3 C T 6: 99,617,586 (GRCm39) R95Q probably damaging Het
Fmo5 T C 3: 97,553,033 (GRCm39) I327T probably damaging Het
Gckr T A 5: 31,483,842 (GRCm39) probably benign Het
Ghrhr T C 6: 55,357,756 (GRCm39) V129A probably damaging Het
Gsdma A T 11: 98,561,593 (GRCm39) N191I probably damaging Het
Hadha T C 5: 30,349,207 (GRCm39) K135E probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Lrp2 T C 2: 69,326,680 (GRCm39) E1797G probably damaging Het
Ly9 T C 1: 171,421,712 (GRCm39) Y513C possibly damaging Het
Nphp4 C T 4: 152,622,474 (GRCm39) probably benign Het
Pate8 A T 9: 36,493,114 (GRCm39) probably null Het
Pcm1 A G 8: 41,783,919 (GRCm39) E2005G probably damaging Het
Spsb2 T C 6: 124,786,518 (GRCm39) Y84H probably damaging Het
Try10 C T 6: 41,333,458 (GRCm39) R68C probably benign Het
Tut7 T A 13: 59,948,194 (GRCm39) E307V probably damaging Het
Ube3c ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 29,842,584 (GRCm39) probably benign Het
Vps50 A T 6: 3,588,063 (GRCm39) I679F probably damaging Het
Wdr81 G A 11: 75,343,629 (GRCm39) T546I probably damaging Het
Zfp40 T A 17: 23,396,101 (GRCm39) H94L possibly damaging Het
Other mutations in Tlcd3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00686:Tlcd3b APN 7 126,424,175 (GRCm39) utr 5 prime probably benign
ishizaka UTSW 7 126,426,667 (GRCm39) missense probably damaging 1.00
tocopherol UTSW 7 126,426,685 (GRCm39) missense probably damaging 1.00
R0421:Tlcd3b UTSW 7 126,424,187 (GRCm39) missense probably damaging 0.99
R0512:Tlcd3b UTSW 7 126,426,795 (GRCm39) missense probably damaging 0.99
R1933:Tlcd3b UTSW 7 126,426,844 (GRCm39) splice site probably null
R2070:Tlcd3b UTSW 7 126,419,012 (GRCm39) missense probably benign 0.00
R4998:Tlcd3b UTSW 7 126,426,795 (GRCm39) missense probably damaging 0.99
R5482:Tlcd3b UTSW 7 126,426,660 (GRCm39) missense possibly damaging 0.95
R6246:Tlcd3b UTSW 7 126,426,668 (GRCm39) missense probably damaging 1.00
R7120:Tlcd3b UTSW 7 126,428,505 (GRCm39) missense probably damaging 0.97
R7159:Tlcd3b UTSW 7 126,426,667 (GRCm39) missense probably damaging 1.00
R8255:Tlcd3b UTSW 7 126,423,275 (GRCm39) missense probably benign 0.10
X0020:Tlcd3b UTSW 7 126,428,447 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCAGTTCTGGCATCTGAAACTC -3'
(R):5'- AAGTCTCCTGGCTCCAGAAG -3'

Sequencing Primer
(F):5'- GTTCTGGCATCTGAAACTCAAAACTC -3'
(R):5'- CTGGCTCCAGAAGGAAGGACTC -3'
Posted On 2015-03-25