Incidental Mutation 'R8771:Tmtc3'
ID 664417
Institutional Source Beutler Lab
Gene Symbol Tmtc3
Ensembl Gene ENSMUSG00000036676
Gene Name transmembrane and tetratricopeptide repeat containing 3
Synonyms B130008E12Rik, mSmile, 9130014E20Rik
MMRRC Submission 068602-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.836) question?
Stock # R8771 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 100279764-100323212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100286180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 548 (S548P)
Ref Sequence ENSEMBL: ENSMUSP00000061470 (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: S548P

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061470
Gene: ENSMUSG00000036676
AA Change: S548P

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: S548P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096921
Gene: ENSMUSG00000036676
AA Change: S548P

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 0.1558 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (47/47)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,880,320 (GRCm39) I451T probably damaging Het
Acin1 T C 14: 54,880,496 (GRCm39) K1236E unknown Het
AI661453 T C 17: 47,777,683 (GRCm39) S470P unknown Het
Ano5 C A 7: 51,216,095 (GRCm39) N357K probably damaging Het
Ano5 C T 7: 51,220,047 (GRCm39) Q396* probably null Het
Baz1b T A 5: 135,273,151 (GRCm39) M1425K probably benign Het
Cdh22 A T 2: 164,988,689 (GRCm39) V222E possibly damaging Het
Celsr1 A T 15: 85,788,175 (GRCm39) S2692R probably benign Het
Ces5a A G 8: 94,255,249 (GRCm39) I144T possibly damaging Het
D5Ertd579e T A 5: 36,761,940 (GRCm39) N1309I probably damaging Het
Dnmt3b C T 2: 153,504,734 (GRCm39) T112M possibly damaging Het
Eif4g3 C T 4: 137,907,848 (GRCm39) Q1283* probably null Het
Etnppl T A 3: 130,414,024 (GRCm39) M41K probably damaging Het
Hhatl G A 9: 121,617,776 (GRCm39) T271I possibly damaging Het
Igkv5-37 A G 6: 69,940,423 (GRCm39) S74P probably damaging Het
Krt87 A G 15: 101,385,779 (GRCm39) V272A probably benign Het
Lgr6 A T 1: 134,933,429 (GRCm39) L262* probably null Het
Lrriq3 G A 3: 154,899,270 (GRCm39) V590I probably damaging Het
Mfsd13a T C 19: 46,360,668 (GRCm39) V382A probably damaging Het
Minar2 T C 18: 59,200,052 (GRCm39) probably benign Het
Mrc2 A G 11: 105,240,596 (GRCm39) T1429A probably benign Het
Mroh5 A T 15: 73,693,203 (GRCm39) M79K possibly damaging Het
Myo1c A G 11: 75,556,709 (GRCm39) K553R probably benign Het
Nbeal1 A G 1: 60,300,743 (GRCm39) T1488A probably benign Het
Or4c12 T C 2: 89,773,565 (GRCm39) K298R probably benign Het
Or5aq6 T C 2: 86,923,294 (GRCm39) Y149C probably benign Het
Or5m10b T G 2: 85,699,712 (GRCm39) Y259D probably damaging Het
Or5p76 T A 7: 108,122,632 (GRCm39) N175I possibly damaging Het
Prl7a1 A T 13: 27,819,811 (GRCm39) W148R probably damaging Het
Ptpn2 G T 18: 67,805,659 (GRCm39) T402K probably benign Het
Ptprf A G 4: 118,068,987 (GRCm39) M1665T possibly damaging Het
Raet1e G T 10: 22,057,041 (GRCm39) V122F probably damaging Het
Serpina3m A G 12: 104,357,841 (GRCm39) E255G probably damaging Het
Sorcs2 T C 5: 36,188,624 (GRCm39) Y828C probably damaging Het
Sprr1a T A 3: 92,391,989 (GRCm39) H4L probably benign Het
Sptssa A G 12: 54,703,211 (GRCm39) Y20H probably damaging Het
Synpo2l A G 14: 20,710,491 (GRCm39) S939P probably damaging Het
Tdrd7 T C 4: 46,010,800 (GRCm39) V568A probably damaging Het
Tmem132c C T 5: 127,437,192 (GRCm39) P227L probably benign Het
Trip12 A T 1: 84,721,018 (GRCm39) probably benign Het
Ttll6 A G 11: 96,042,762 (GRCm39) Y436C probably damaging Het
Unc80 A G 1: 66,685,554 (GRCm39) D2226G possibly damaging Het
Vmn1r142 T C 7: 21,862,737 (GRCm39) M242V probably benign Het
Vmn2r12 T G 5: 109,239,952 (GRCm39) T204P possibly damaging Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Vmn2r61 C A 7: 41,916,194 (GRCm39) A269D probably damaging Het
Zfp148 A G 16: 33,317,656 (GRCm39) D776G possibly damaging Het
Zfp775 A T 6: 48,596,906 (GRCm39) Q260L probably benign 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
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
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'- TTGATGCACATAGCTGTCAAGAAAG -3'
(R):5'- TCAGCAAAATCTTAGGTTCTGTGTC -3'

Sequencing Primer
(F):5'- TGCACATAGCTGTCAAGAAAGAACAC -3'
(R):5'- GGTTCTGTGTCACTTGAAATAAGTC -3'
Posted On 2021-03-08