Incidental Mutation 'R5482:Tlcd3b'
ID 434388
Institutional Source Beutler Lab
Gene Symbol Tlcd3b
Ensembl Gene ENSMUSG00000058966
Gene Name TLC domain containing 3B
Synonyms A330104J06Rik, Fam57b, 1500016O10Rik
MMRRC Submission 043043-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5482 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126413213-126429391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126426660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 78 (T78A)
Ref Sequence ENSEMBL: ENSMUSP00000145881 (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 benign
Transcript: ENSMUST00000079423
AA Change: T78A

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000078392
Gene: ENSMUSG00000058966
AA Change: T78A

DomainStartEndE-ValueType
TLC 34 261 1.2e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098032
AA Change: T78A

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095640
Gene: ENSMUSG00000058966
AA Change: T78A

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 benign
Transcript: ENSMUST00000205324
AA Change: T78A

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000205722
AA Change: T78A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205907
Predicted Effect probably benign
Transcript: ENSMUST00000207020
AA Change: T28A

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.1810 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.4%
  • 10x: 94.5%
  • 20x: 87.6%
Validation Efficiency 99% (68/69)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230109A22Rik T C 15: 25,139,036 (GRCm39) noncoding transcript Het
Abca15 T C 7: 119,968,370 (GRCm39) L801P probably damaging Het
Acap3 A G 4: 155,984,613 (GRCm39) D212G probably benign Het
Acsl6 G A 11: 54,217,964 (GRCm39) D166N probably damaging Het
Acy1 T C 9: 106,311,838 (GRCm39) probably benign Het
Adgrl3 A G 5: 81,942,360 (GRCm39) N1368S probably damaging Het
Akap5 T C 12: 76,375,600 (GRCm39) I344T probably benign Het
Aplp1 A G 7: 30,139,600 (GRCm39) F399S probably damaging Het
Arap3 A G 18: 38,107,727 (GRCm39) S1302P possibly damaging Het
Bik T G 15: 83,428,335 (GRCm39) V121G probably damaging Het
Birc6 A T 17: 74,948,777 (GRCm39) M3069L possibly damaging Het
Birc6 A G 17: 74,969,685 (GRCm39) T4237A probably damaging Het
Btn2a2 T C 13: 23,670,557 (GRCm39) N59D probably benign Het
Cabyr A G 18: 12,884,496 (GRCm39) S328G possibly damaging Het
Cfap57 C T 4: 118,426,838 (GRCm39) G1067R probably benign Het
Cryl1 A T 14: 57,550,469 (GRCm39) F132I probably damaging Het
Dipk1a C G 5: 108,057,529 (GRCm39) C343S probably damaging Het
Dnah8 G A 17: 31,019,521 (GRCm39) E3865K probably damaging Het
Dock3 G A 9: 106,855,937 (GRCm39) R741* probably null Het
Fsip2 C T 2: 82,815,654 (GRCm39) L3796F possibly damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm5535 C A 2: 144,016,492 (GRCm39) noncoding transcript Het
Gmcl1 A T 6: 86,695,055 (GRCm39) M202K probably damaging Het
Hecw2 T A 1: 53,965,360 (GRCm39) M489L probably benign Het
Lrrk1 A G 7: 65,980,418 (GRCm39) I254T probably benign Het
Lrrn3 G A 12: 41,502,386 (GRCm39) L644F probably benign Het
Lrrn3 A C 12: 41,502,387 (GRCm39) C643W probably damaging Het
Nr2f6 A T 8: 71,827,182 (GRCm39) I373N probably damaging Het
Nt5dc3 A G 10: 86,647,395 (GRCm39) Y130C probably damaging Het
Or5b12 T C 19: 12,897,269 (GRCm39) T135A probably damaging Het
Or6c3 T C 10: 129,308,947 (GRCm39) Y129H probably benign Het
Otogl T A 10: 107,657,802 (GRCm39) I1043F probably damaging Het
Padi3 G A 4: 140,523,154 (GRCm39) T302I probably damaging Het
Pcdhgb5 A G 18: 37,864,585 (GRCm39) N127D probably damaging Het
Pign A G 1: 105,474,435 (GRCm39) F876L probably benign Het
Pip5k1c A G 10: 81,128,897 (GRCm39) E2G probably damaging Het
Ppp1r18 G A 17: 36,184,771 (GRCm39) E141K probably damaging Het
Ralbp1 A C 17: 66,168,563 (GRCm39) Y247* probably null Het
Ripply2 A G 9: 86,897,620 (GRCm39) E8G possibly damaging Het
Rufy3 TAAGCA TA 5: 88,785,191 (GRCm39) probably null Het
Skint2 T G 4: 112,483,076 (GRCm39) C160W probably damaging Het
Sun2 C T 15: 79,621,712 (GRCm39) R172Q probably benign Het
Syna A G 5: 134,588,028 (GRCm39) L307P possibly damaging Het
Trappc12 T C 12: 28,741,324 (GRCm39) K795R probably damaging Het
Trmt9b A T 8: 36,979,203 (GRCm39) M269L probably benign Het
Ttll11 A G 2: 35,642,418 (GRCm39) S638P probably damaging Het
Usp2 G A 9: 44,000,480 (GRCm39) probably null Het
Vmn2r26 A T 6: 124,038,285 (GRCm39) E620V possibly damaging Het
Wdr36 A T 18: 32,974,957 (GRCm39) H103L probably benign Het
Wnt5b T C 6: 119,423,392 (GRCm39) T78A probably benign Het
Zc2hc1b C T 10: 13,029,270 (GRCm39) R146Q probably 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
R3764:Tlcd3b UTSW 7 126,426,685 (GRCm39) missense probably damaging 1.00
R4998:Tlcd3b UTSW 7 126,426,795 (GRCm39) missense probably damaging 0.99
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'- CATCTGAGAGACCGTCTGAC -3'
(R):5'- GAAGCACACCAGTACCATGG -3'

Sequencing Primer
(F):5'- TGAGAGACCGTCTGACCTTGG -3'
(R):5'- AGTACCATGGCCGCGTG -3'
Posted On 2016-10-06