Incidental Mutation 'R8394:Tmtc3'
ID 647532
Institutional Source Beutler Lab
Gene Symbol Tmtc3
Ensembl Gene ENSMUSG00000036676
Gene Name transmembrane and tetratricopeptide repeat containing 3
Synonyms B130008E12Rik, mSmile, 9130014E20Rik
MMRRC Submission 067758-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.836) question?
Stock # R8394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 100279764-100323212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100282808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 916 (I916V)
Ref Sequence ENSEMBL: ENSMUSP00000061470 (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: I916V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000061470
Gene: ENSMUSG00000036676
AA Change: I916V

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T C 14: 59,379,623 (GRCm39) N137S probably benign Het
4930505A04Rik T A 11: 30,404,880 (GRCm39) probably null Het
Abcc8 A G 7: 45,803,977 (GRCm39) I399T probably benign Het
Aldh3b2 A C 19: 4,029,461 (GRCm39) Q278P probably benign Het
Arl8b A G 6: 108,760,244 (GRCm39) D10G possibly damaging Het
Baiap3 T C 17: 25,469,096 (GRCm39) N229S probably benign Het
Chrdl2 T C 7: 99,666,292 (GRCm39) S71P possibly damaging Het
Cmbl A G 15: 31,585,541 (GRCm39) M142V possibly damaging Het
Cpt1b A G 15: 89,306,490 (GRCm39) probably null Het
Crybg3 T C 16: 59,378,651 (GRCm39) K868E probably benign Het
Efl1 A G 7: 82,411,986 (GRCm39) I792V probably benign Het
Evx2 A G 2: 74,486,321 (GRCm39) L356S probably benign Het
Hspa14 C T 2: 3,513,670 (GRCm39) probably null Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Il7r A G 15: 9,516,504 (GRCm39) F99S probably damaging Het
Klra2 A T 6: 131,222,273 (GRCm39) V6D possibly damaging Het
Lce3c T C 3: 92,852,760 (GRCm39) S74P unknown Het
Nectin2 C T 7: 19,467,137 (GRCm39) probably null Het
Nfil3 A G 13: 53,121,849 (GRCm39) S352P probably benign Het
Nme6 T A 9: 109,664,394 (GRCm39) M1K probably null Het
Or52z13 A T 7: 103,247,404 (GRCm39) I294F probably damaging Het
Otogl A G 10: 107,722,326 (GRCm39) probably null Het
Plcb1 T C 2: 135,159,710 (GRCm39) V391A probably damaging Het
Ptf1a T A 2: 19,450,746 (GRCm39) D25E probably damaging Het
Ralbp1 C T 17: 66,159,748 (GRCm39) R505H probably benign Het
Scube1 T C 15: 83,492,492 (GRCm39) Y944C probably damaging Het
Sdk2 A G 11: 113,729,542 (GRCm39) I1039T probably benign Het
Senp7 G T 16: 55,990,190 (GRCm39) W646L possibly damaging Het
Sphkap A T 1: 83,253,797 (GRCm39) N1317K probably benign Het
Strc G T 2: 121,209,490 (GRCm39) Q278K probably benign Het
Tbc1d30 T A 10: 121,183,013 (GRCm39) R142* probably null Het
Tomm40l A T 1: 171,048,776 (GRCm39) H79Q probably damaging Het
Txndc12 T A 4: 108,713,420 (GRCm39) probably null Het
Vmn2r2 T C 3: 64,044,858 (GRCm39) N96S probably damaging Het
Vmn2r27 T C 6: 124,168,776 (GRCm39) T785A possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp462 A G 4: 55,011,862 (GRCm39) D1276G 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
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
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'- ACAGGTAGGTCTTCAATGAAACTC -3'
(R):5'- GCTGATAAGACTCCAGGTACAG -3'

Sequencing Primer
(F):5'- ACTCTCATTTTGATCCTATAGAGAGG -3'
(R):5'- GAAATCCCTTCTGAGGATGTAAAAG -3'
Posted On 2020-09-02