Incidental Mutation 'R3911:Tmtc3'
ID 309400
Institutional Source Beutler Lab
Gene Symbol Tmtc3
Ensembl Gene ENSMUSG00000036676
Gene Name transmembrane and tetratricopeptide repeat containing 3
Synonyms B130008E12Rik, mSmile, 9130014E20Rik
MMRRC Submission 040909-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.855) question?
Stock # R3911 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 100279764-100323212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 100284888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 582 (N582K)
Ref Sequence ENSEMBL: ENSMUSP00000096921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058154] [ENSMUST00000099318]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000058154
AA Change: N582K

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000061470
Gene: ENSMUSG00000036676
AA Change: N582K

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: N582K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096921
Gene: ENSMUSG00000036676
AA Change: N582K

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
Meta Mutation Damage Score 0.1824 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (71/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T A 5: 124,227,909 (GRCm39) I111F probably benign Het
Abcc12 A C 8: 87,255,048 (GRCm39) probably benign Het
Adgre1 G T 17: 57,754,860 (GRCm39) V653L probably damaging Het
Aebp2 T A 6: 140,593,707 (GRCm39) D230E probably damaging Het
Asap3 A G 4: 135,956,768 (GRCm39) probably benign Het
Bod1l T C 5: 41,974,441 (GRCm39) E2291G probably damaging Het
Casp8 A T 1: 58,872,864 (GRCm39) S267C probably damaging Het
Cchcr1 T C 17: 35,836,233 (GRCm39) V341A probably damaging Het
Cd2ap T A 17: 43,126,980 (GRCm39) probably null Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Clip1 T A 5: 123,728,897 (GRCm39) E1155D probably damaging Het
Cnnm2 A G 19: 46,866,375 (GRCm39) E841G probably damaging Het
Cntrl G A 2: 35,010,061 (GRCm39) R245H probably damaging Het
Cyp2b23 A T 7: 26,380,842 (GRCm39) S128T probably benign Het
Dhrs11 A T 11: 84,712,579 (GRCm39) I196N probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Edc3 A T 9: 57,655,686 (GRCm39) I479F possibly damaging Het
Emg1 T A 6: 124,682,009 (GRCm39) M172L probably benign Het
Epha7 G A 4: 28,938,680 (GRCm39) V512I probably benign Het
Exoc7 T C 11: 116,197,731 (GRCm39) D27G probably benign Het
Fasl C A 1: 161,615,760 (GRCm39) C32F probably benign Het
Flg A T 3: 93,187,307 (GRCm39) H253L probably benign Het
Fnip2 A T 3: 79,386,812 (GRCm39) D971E possibly damaging Het
Gab2 A G 7: 96,948,280 (GRCm39) Y290C probably damaging Het
Gm17067 T A 7: 42,360,104 (GRCm39) I43L possibly damaging Het
Gpld1 A G 13: 25,146,305 (GRCm39) Y183C probably damaging Het
Gpr137c C A 14: 45,516,392 (GRCm39) P327T probably benign Het
Hepacam2 A G 6: 3,494,477 (GRCm39) M1T probably null Het
Ighv5-4 A T 12: 113,561,060 (GRCm39) probably benign Het
Iqca1l A T 5: 24,750,440 (GRCm39) probably benign Het
Itgb8 T A 12: 119,131,740 (GRCm39) E635V possibly damaging Het
Kat14 T C 2: 144,245,982 (GRCm39) V469A probably damaging Het
Kcnj15 C T 16: 95,097,329 (GRCm39) T317I probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl18 A T 9: 110,265,151 (GRCm39) L285Q probably damaging Het
Krt90 G A 15: 101,471,218 (GRCm39) R15W probably damaging Het
Krtap4-8 A T 11: 99,670,863 (GRCm39) C203S unknown Het
Lsp1 C T 7: 142,040,098 (GRCm39) S75F probably damaging Het
Map1b A G 13: 99,567,580 (GRCm39) S1714P unknown Het
Mcm2 A G 6: 88,865,234 (GRCm39) I481T probably damaging Het
Mcpt9 T C 14: 56,265,136 (GRCm39) T122A probably benign Het
Megf10 A T 18: 57,422,465 (GRCm39) R947W probably damaging Het
Or2ag18 A T 7: 106,405,072 (GRCm39) V199D probably damaging Het
Or51ai2 A T 7: 103,586,616 (GRCm39) N10Y possibly damaging Het
Pank4 A G 4: 155,054,058 (GRCm39) Y79C probably damaging Het
Pds5b T A 5: 150,670,171 (GRCm39) N386K probably benign Het
Pfkm A G 15: 98,022,928 (GRCm39) M362V probably benign Het
Phc2 T C 4: 128,637,351 (GRCm39) probably null Het
Pou4f1 C T 14: 104,703,611 (GRCm39) A274T unknown Het
Proc A G 18: 32,256,758 (GRCm39) L303P probably damaging Het
Ptk2b C T 14: 66,394,517 (GRCm39) G821D possibly damaging Het
Rlim T C X: 103,006,267 (GRCm39) T545A probably benign Het
Serpinb6c T C 13: 34,077,888 (GRCm39) N161D probably benign Het
Sf3b1 G A 1: 55,058,548 (GRCm39) Q14* probably null Het
Sh3d19 G A 3: 86,014,534 (GRCm39) V442M possibly damaging Het
Slc30a8 A G 15: 52,185,097 (GRCm39) I140V probably benign Het
Spata1 T A 3: 146,181,079 (GRCm39) N293I probably damaging Het
Strap T G 6: 137,712,380 (GRCm39) C10G probably damaging Het
Tcf7 C A 11: 52,173,793 (GRCm39) probably benign Het
Tmem114 A T 16: 8,230,054 (GRCm39) M116K probably damaging Het
Tmem63b A G 17: 45,988,884 (GRCm39) S113P probably damaging Het
Tnfrsf11b G A 15: 54,119,578 (GRCm39) probably benign Het
Tns2 T C 15: 102,022,272 (GRCm39) probably null Het
Trim30a A G 7: 104,060,348 (GRCm39) V476A probably damaging Het
Ush2a T A 1: 188,132,151 (GRCm39) V791D probably benign Het
Vmn2r99 T C 17: 19,614,635 (GRCm39) F785S possibly damaging Het
Vps35l A G 7: 118,345,613 (GRCm39) T49A possibly damaging Het
Wdr35 A T 12: 9,036,077 (GRCm39) I283F probably benign Het
Wnt10b G T 15: 98,672,219 (GRCm39) A166E possibly damaging Het
Other mutations in Tmtc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Tmtc3 APN 10 100,307,342 (GRCm39) missense probably benign
IGL00962:Tmtc3 APN 10 100,307,815 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCAGAATTGAACAGTGCTAGC -3'
(R):5'- CTCACACTTACTGTCCAGTCAG -3'

Sequencing Primer
(F):5'- GCAGAATTGAACAGTGCTAGCTTATG -3'
(R):5'- ACACTTACTGTCCAGTCAGGCATG -3'
Posted On 2015-04-17