Incidental Mutation 'IGL03375:Tmtc3'
ID420462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmtc3
Ensembl Gene ENSMUSG00000036676
Gene Nametransmembrane and tetratricopeptide repeat containing 3
SynonymsB130008E12Rik, mSmile, 9130014E20Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.315) question?
Stock #IGL03375
Quality Score
Status
Chromosome10
Chromosomal Location100443902-100487350 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 100447719 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 658 (A658V)
Ref Sequence ENSEMBL: ENSMUSP00000061470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058154] [ENSMUST00000099318]
Predicted Effect possibly damaging
Transcript: ENSMUST00000058154
AA Change: A658V

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000061470
Gene: ENSMUSG00000036676
AA Change: A658V

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 benign
Transcript: ENSMUST00000099318
SMART Domains Protein: ENSMUSP00000096921
Gene: ENSMUSG00000036676

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
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap31 A G 16: 38,602,828 S959P probably damaging Het
Arrb2 G A 11: 70,436,179 G24D probably damaging Het
Catsper4 A G 4: 134,218,208 I180T probably damaging Het
Chst15 G A 7: 132,270,457 Q32* probably null Het
Cntnap5c A T 17: 58,162,205 Y594F possibly damaging Het
Cse1l T A 2: 166,943,057 probably benign Het
Dab1 A T 4: 104,681,601 I201F possibly damaging Het
Eif2ak4 T C 2: 118,422,318 V457A probably benign Het
Fkbp1b T C 12: 4,838,220 probably benign Het
Fryl C A 5: 73,088,449 V1122F possibly damaging Het
Gas2l2 A G 11: 83,426,210 probably benign Het
Gm960 T C 19: 4,698,178 E164G probably benign Het
Gstt2 A T 10: 75,832,821 probably null Het
Hcst T G 7: 30,418,611 probably benign Het
Hectd4 A G 5: 121,328,382 E2420G possibly damaging Het
Hist2h4 T C 3: 96,263,142 T55A possibly damaging Het
Ifi206 A T 1: 173,480,778 S551T probably benign Het
Itgb3bp A G 4: 99,769,487 probably benign Het
Krtap6-2 A G 16: 89,419,756 Y108H unknown Het
Krtap6-5 T G 16: 89,047,852 probably benign Het
Muc5b A G 7: 141,861,962 T2882A possibly damaging Het
Nup214 C T 2: 32,010,221 T854M probably damaging Het
Olfml2b A G 1: 170,649,832 K179E probably benign Het
Olfr1281 A T 2: 111,328,884 H155L probably damaging Het
Olfr149 A G 9: 39,702,575 S65P probably damaging Het
Per2 A T 1: 91,424,228 I852K possibly damaging Het
Pkhd1 A T 1: 20,117,023 I3687N probably damaging Het
Slc7a2 A T 8: 40,916,373 S622C probably damaging Het
Smarcc2 G A 10: 128,482,912 V719I probably damaging Het
Syne2 T C 12: 75,925,435 I1033T possibly damaging Het
Tmod1 T C 4: 46,096,999 I264T probably damaging Het
Tpm3 A G 3: 90,073,772 E56G possibly damaging Het
Tra2b T C 16: 22,247,243 probably benign Het
Trmu T A 15: 85,894,937 Y262N possibly damaging Het
Uox C T 3: 146,625,835 T213I probably damaging Het
Vps13d A G 4: 145,091,947 W2R probably damaging Het
Other mutations in Tmtc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Tmtc3 APN 10 100471480 missense probably benign
IGL00962:Tmtc3 APN 10 100471953 missense probably damaging 1.00
IGL01670:Tmtc3 APN 10 100447125 missense probably benign 0.02
IGL01729:Tmtc3 APN 10 100447155 missense probably benign
IGL01933:Tmtc3 APN 10 100447605 missense probably benign 0.00
IGL01961:Tmtc3 APN 10 100447031 missense probably benign
IGL03063:Tmtc3 APN 10 100447606 missense probably benign 0.00
IGL03176:Tmtc3 APN 10 100466131 missense possibly damaging 0.57
IGL03195:Tmtc3 APN 10 100459034 missense probably benign 0.00
IGL03238:Tmtc3 APN 10 100477840 missense probably damaging 1.00
IGL03272:Tmtc3 APN 10 100457080 missense probably benign 0.00
IGL03335:Tmtc3 APN 10 100466254 missense probably damaging 0.97
IGL03409:Tmtc3 APN 10 100451432 missense possibly damaging 0.75
R0078:Tmtc3 UTSW 10 100448961 missense probably damaging 1.00
R0121:Tmtc3 UTSW 10 100458908 splice site probably benign
R0234:Tmtc3 UTSW 10 100450322 missense probably benign 0.44
R0234:Tmtc3 UTSW 10 100450322 missense probably benign 0.44
R0480:Tmtc3 UTSW 10 100471404 missense probably damaging 1.00
R1136:Tmtc3 UTSW 10 100472043 unclassified probably benign
R1203:Tmtc3 UTSW 10 100476744 missense probably damaging 1.00
R1253:Tmtc3 UTSW 10 100451390 missense probably benign 0.05
R2181:Tmtc3 UTSW 10 100448973 missense probably benign 0.00
R3011:Tmtc3 UTSW 10 100447582 missense possibly damaging 0.76
R3430:Tmtc3 UTSW 10 100447575 missense probably benign 0.29
R3910:Tmtc3 UTSW 10 100449026 missense probably damaging 1.00
R3911:Tmtc3 UTSW 10 100449026 missense probably damaging 1.00
R3912:Tmtc3 UTSW 10 100449026 missense probably damaging 1.00
R4773:Tmtc3 UTSW 10 100457139 missense possibly damaging 0.66
R4838:Tmtc3 UTSW 10 100466220 missense probably damaging 1.00
R4996:Tmtc3 UTSW 10 100447224 missense probably damaging 0.99
R5131:Tmtc3 UTSW 10 100448979 missense probably damaging 1.00
R5976:Tmtc3 UTSW 10 100476672 missense probably benign 0.00
R6700:Tmtc3 UTSW 10 100471477 missense probably benign 0.00
R7187:Tmtc3 UTSW 10 100477912 missense probably damaging 1.00
R7211:Tmtc3 UTSW 10 100447605 missense probably benign 0.05
R7299:Tmtc3 UTSW 10 100447474 missense not run
R7301:Tmtc3 UTSW 10 100447474 missense not run
R7329:Tmtc3 UTSW 10 100447419 missense probably benign 0.00
R7509:Tmtc3 UTSW 10 100466094 missense probably damaging 1.00
R7614:Tmtc3 UTSW 10 100450352 nonsense probably null
RF023:Tmtc3 UTSW 10 100477866 missense probably benign
Posted On2016-08-02