Incidental Mutation 'R5131:Tmtc3'
ID 395011
Institutional Source Beutler Lab
Gene Symbol Tmtc3
Ensembl Gene ENSMUSG00000036676
Gene Name transmembrane and tetratricopeptide repeat containing 3
Synonyms B130008E12Rik, mSmile, 9130014E20Rik
MMRRC Submission 042719-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.836) question?
Stock # R5131 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 100279764-100323212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100284841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 598 (D598G)
Ref Sequence ENSEMBL: ENSMUSP00000096921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058154] [ENSMUST00000099318]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000058154
AA Change: D598G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061470
Gene: ENSMUSG00000036676
AA Change: D598G

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: D598G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096921
Gene: ENSMUSG00000036676
AA Change: D598G

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C T 4: 40,163,797 (GRCm39) P17S probably benign Het
Arhgap35 A G 7: 16,245,112 (GRCm39) probably null Het
Brd3 A T 2: 27,343,427 (GRCm39) N480K probably benign Het
Ccnk T C 12: 108,168,890 (GRCm39) probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh1 T C 8: 107,390,430 (GRCm39) V590A possibly damaging Het
Cert1 A G 13: 96,751,343 (GRCm39) D331G probably damaging Het
Cic TCCCCC TCCCCCCCC 7: 24,991,095 (GRCm39) probably benign Het
Cmklr2 T A 1: 63,222,840 (GRCm39) S132C probably damaging Het
Cyp4a12a T A 4: 115,185,017 (GRCm39) D399E possibly damaging Het
Dnah11 A C 12: 117,918,486 (GRCm39) Y3482D probably damaging Het
Gtf3c3 A T 1: 54,458,657 (GRCm39) probably null Het
Gzmk G T 13: 113,310,482 (GRCm39) A73E probably benign Het
Hnrnpul1 A G 7: 25,426,219 (GRCm39) V444A probably benign Het
Lgr4 T C 2: 109,842,678 (GRCm39) S864P probably benign Het
Lrp2 A T 2: 69,260,686 (GRCm39) V4515E possibly damaging Het
Map3k19 A T 1: 127,751,427 (GRCm39) N641K possibly damaging Het
Mesp2 A G 7: 79,461,475 (GRCm39) T267A possibly damaging Het
Mipep T C 14: 61,140,823 (GRCm39) L682P probably damaging Het
Nalcn G T 14: 123,753,182 (GRCm39) T268K probably damaging Het
Ncam2 T C 16: 81,234,550 (GRCm39) V135A probably benign Het
Ndufaf6 G T 4: 11,060,931 (GRCm39) T215K probably damaging Het
Nr1h4 T C 10: 89,319,317 (GRCm39) D183G probably damaging Het
Pate9 C T 9: 36,446,242 (GRCm39) A57T possibly damaging Het
Pax2 G T 19: 44,749,394 (GRCm39) V41L probably damaging Het
Pde4dip T A 3: 97,616,830 (GRCm39) N1804I probably damaging Het
Phtf2 A T 5: 20,979,050 (GRCm39) V526E probably damaging Het
Ppp1ca G A 19: 4,244,895 (GRCm39) C291Y probably damaging Het
Prag1 G T 8: 36,607,123 (GRCm39) G955C probably damaging Het
Psap T A 10: 60,135,736 (GRCm39) V394E possibly damaging Het
Rap1b C T 10: 117,660,516 (GRCm39) V14I probably damaging Het
Rnf181 G A 6: 72,337,811 (GRCm39) probably null Het
Rsbn1l G A 5: 21,101,243 (GRCm39) R766C possibly damaging Het
Rusc2 C T 4: 43,414,948 (GRCm39) P85S probably benign Het
Rxfp1 T C 3: 79,559,471 (GRCm39) probably null Het
Serpinb6a T A 13: 34,102,855 (GRCm39) M202L probably benign Het
Snd1 T C 6: 28,885,049 (GRCm39) F800S probably damaging Het
Tbc1d2b G A 9: 90,091,812 (GRCm39) T830I probably damaging Het
Tmem209 A T 6: 30,497,166 (GRCm39) N183K probably benign Het
Ube3b A G 5: 114,545,607 (GRCm39) D622G probably damaging Het
Zbtb43 A T 2: 33,344,778 (GRCm39) M112K probably 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
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
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'- TGCAATAAACAGCCTGGCC -3'
(R):5'- TGAGGCTGCTTTCAGAAAGTG -3'

Sequencing Primer
(F):5'- GCCTGGCCACAAAATATTTATTATGG -3'
(R):5'- TGTTTGTTTCCCACAGGG -3'
Posted On 2016-06-21