Incidental Mutation 'IGL00962:Tmtc3'
ID 28393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmtc3
Ensembl Gene ENSMUSG00000036676
Gene Name transmembrane and tetratricopeptide repeat containing 3
Synonyms B130008E12Rik, mSmile, 9130014E20Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.836) question?
Stock # IGL00962
Quality Score
Status
Chromosome 10
Chromosomal Location 100279764-100323212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100307815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 201 (G201R)
Ref Sequence ENSEMBL: ENSMUSP00000096921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058154] [ENSMUST00000099318] [ENSMUST00000128009]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000058154
AA Change: G201R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061470
Gene: ENSMUSG00000036676
AA Change: G201R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 98 120 N/A INTRINSIC
transmembrane domain 141 163 N/A INTRINSIC
transmembrane domain 173 192 N/A INTRINSIC
transmembrane domain 205 227 N/A INTRINSIC
transmembrane domain 237 259 N/A INTRINSIC
Pfam:DUF1736 263 336 5.4e-35 PFAM
transmembrane domain 353 375 N/A INTRINSIC
transmembrane domain 382 399 N/A INTRINSIC
TPR 451 484 8.23e-6 SMART
TPR 485 518 2.13e1 SMART
TPR 533 567 8.77e1 SMART
TPR 568 601 3.19e-3 SMART
TPR 602 635 1.06e-8 SMART
TPR 673 706 1.35e-1 SMART
TPR 707 740 1.44e1 SMART
TPR 741 775 1.51e1 SMART
TPR 776 809 9e1 SMART
low complexity region 867 880 N/A INTRINSIC
low complexity region 891 902 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099318
AA Change: G201R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096921
Gene: ENSMUSG00000036676
AA Change: G201R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 98 120 N/A INTRINSIC
transmembrane domain 141 163 N/A INTRINSIC
transmembrane domain 173 192 N/A INTRINSIC
transmembrane domain 205 227 N/A INTRINSIC
transmembrane domain 237 259 N/A INTRINSIC
Pfam:DUF1736 261 338 2.6e-33 PFAM
transmembrane domain 353 375 N/A INTRINSIC
transmembrane domain 382 399 N/A INTRINSIC
TPR 451 484 8.23e-6 SMART
TPR 485 518 2.13e1 SMART
TPR 533 567 8.77e1 SMART
TPR 568 601 3.19e-3 SMART
TPR 602 635 1.06e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130883
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired bronchial smooth muscle and alveolar myofibroblast development that leads to cyanosis and postnatal lethality in some mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,564,723 (GRCm39) probably null Het
Atp8b1 C T 18: 64,664,515 (GRCm39) A1218T probably damaging Het
AY761185 T C 8: 21,434,611 (GRCm39) D39G possibly damaging Het
Fam167a G A 14: 63,699,904 (GRCm39) E155K probably damaging Het
Fat3 C T 9: 15,826,815 (GRCm39) G4379D probably benign Het
Fkbp10 A G 11: 100,312,643 (GRCm39) T300A probably benign Het
Gm6665 T C 18: 31,953,204 (GRCm39) K57R probably benign Het
Gnb4 T C 3: 32,647,318 (GRCm39) T86A probably benign Het
H2-Q2 A G 17: 35,561,825 (GRCm39) Y105C probably damaging Het
Ighv1-75 A G 12: 115,797,883 (GRCm39) probably benign Het
Ilvbl A G 10: 78,419,172 (GRCm39) T474A possibly damaging Het
Shld2 A T 14: 33,971,208 (GRCm39) V559E probably damaging Het
Slc45a3 T A 1: 131,905,265 (GRCm39) V96D probably damaging Het
Tnfsf14 G A 17: 57,499,906 (GRCm39) Q83* probably null Het
Trpm2 A G 10: 77,779,750 (GRCm39) probably benign Het
Ubr5 A T 15: 37,986,178 (GRCm39) F2219I probably damaging Het
Utrn C T 10: 12,357,078 (GRCm39) V2747I possibly damaging Het
Vcan T C 13: 89,810,171 (GRCm39) N3207D probably damaging Het
Vmn1r35 A G 6: 66,656,361 (GRCm39) V103A possibly damaging Het
Vmn2r97 A G 17: 19,149,490 (GRCm39) T293A probably damaging Het
Wdr35 A G 12: 9,071,726 (GRCm39) probably benign Het
Other mutations in Tmtc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Tmtc3 APN 10 100,307,342 (GRCm39) missense probably benign
IGL01670:Tmtc3 APN 10 100,282,987 (GRCm39) missense probably benign 0.02
IGL01729:Tmtc3 APN 10 100,283,017 (GRCm39) missense probably benign
IGL01933:Tmtc3 APN 10 100,283,467 (GRCm39) missense probably benign 0.00
IGL01961:Tmtc3 APN 10 100,282,893 (GRCm39) missense probably benign
IGL03063:Tmtc3 APN 10 100,283,468 (GRCm39) missense probably benign 0.00
IGL03176:Tmtc3 APN 10 100,301,993 (GRCm39) missense possibly damaging 0.57
IGL03195:Tmtc3 APN 10 100,294,896 (GRCm39) missense probably benign 0.00
IGL03238:Tmtc3 APN 10 100,313,702 (GRCm39) missense probably damaging 1.00
IGL03272:Tmtc3 APN 10 100,292,942 (GRCm39) missense probably benign 0.00
IGL03335:Tmtc3 APN 10 100,302,116 (GRCm39) missense probably damaging 0.97
IGL03375:Tmtc3 APN 10 100,283,581 (GRCm39) missense possibly damaging 0.67
IGL03409:Tmtc3 APN 10 100,287,294 (GRCm39) missense possibly damaging 0.75
concordat UTSW 10 100,286,214 (GRCm39) nonsense probably null
R0078:Tmtc3 UTSW 10 100,284,823 (GRCm39) missense probably damaging 1.00
R0121:Tmtc3 UTSW 10 100,294,770 (GRCm39) splice site probably benign
R0234:Tmtc3 UTSW 10 100,286,184 (GRCm39) missense probably benign 0.44
R0234:Tmtc3 UTSW 10 100,286,184 (GRCm39) missense probably benign 0.44
R0480:Tmtc3 UTSW 10 100,307,266 (GRCm39) missense probably damaging 1.00
R1136:Tmtc3 UTSW 10 100,307,905 (GRCm39) unclassified probably benign
R1203:Tmtc3 UTSW 10 100,312,606 (GRCm39) missense probably damaging 1.00
R1253:Tmtc3 UTSW 10 100,287,252 (GRCm39) missense probably benign 0.05
R2181:Tmtc3 UTSW 10 100,284,835 (GRCm39) missense probably benign 0.00
R3011:Tmtc3 UTSW 10 100,283,444 (GRCm39) missense possibly damaging 0.76
R3430:Tmtc3 UTSW 10 100,283,437 (GRCm39) missense probably benign 0.29
R3910:Tmtc3 UTSW 10 100,284,888 (GRCm39) missense probably damaging 1.00
R3911:Tmtc3 UTSW 10 100,284,888 (GRCm39) missense probably damaging 1.00
R3912:Tmtc3 UTSW 10 100,284,888 (GRCm39) missense probably damaging 1.00
R4773:Tmtc3 UTSW 10 100,293,001 (GRCm39) missense possibly damaging 0.66
R4838:Tmtc3 UTSW 10 100,302,082 (GRCm39) missense probably damaging 1.00
R4996:Tmtc3 UTSW 10 100,283,086 (GRCm39) missense probably damaging 0.99
R5131:Tmtc3 UTSW 10 100,284,841 (GRCm39) missense probably damaging 1.00
R5976:Tmtc3 UTSW 10 100,312,534 (GRCm39) missense probably benign 0.00
R6700:Tmtc3 UTSW 10 100,307,339 (GRCm39) missense probably benign 0.00
R7187:Tmtc3 UTSW 10 100,313,774 (GRCm39) missense probably damaging 1.00
R7211:Tmtc3 UTSW 10 100,283,467 (GRCm39) missense probably benign 0.05
R7299:Tmtc3 UTSW 10 100,283,336 (GRCm39) missense not run
R7301:Tmtc3 UTSW 10 100,283,336 (GRCm39) missense not run
R7329:Tmtc3 UTSW 10 100,283,281 (GRCm39) missense probably benign 0.00
R7509:Tmtc3 UTSW 10 100,301,956 (GRCm39) missense probably damaging 1.00
R7614:Tmtc3 UTSW 10 100,286,214 (GRCm39) nonsense probably null
R8329:Tmtc3 UTSW 10 100,283,296 (GRCm39) missense probably damaging 0.99
R8394:Tmtc3 UTSW 10 100,282,808 (GRCm39) missense probably damaging 1.00
R8771:Tmtc3 UTSW 10 100,286,180 (GRCm39) missense possibly damaging 0.80
R9317:Tmtc3 UTSW 10 100,301,896 (GRCm39) missense probably benign
RF023:Tmtc3 UTSW 10 100,313,728 (GRCm39) missense probably benign
Z1176:Tmtc3 UTSW 10 100,307,318 (GRCm39) missense possibly damaging 0.85
Posted On 2013-04-17