Incidental Mutation 'R4290:Ttc19'
ID 323023
Institutional Source Beutler Lab
Gene Symbol Ttc19
Ensembl Gene ENSMUSG00000042298
Gene Name tetratricopeptide repeat domain 19
Synonyms 2810460C24Rik, 2010204O13Rik
MMRRC Submission 041655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R4290 (G1)
Quality Score 157
Status Validated
Chromosome 11
Chromosomal Location 62172256-62208611 bp(+) (GRCm39)
Type of Mutation splice site (42 bp from exon)
DNA Base Change (assembly) A to G at 62176753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000050646] [ENSMUST00000072916] [ENSMUST00000101075]
AlphaFold Q8CC21
Predicted Effect probably null
Transcript: ENSMUST00000050646
SMART Domains Protein: ENSMUSP00000054367
Gene: ENSMUSG00000042298

DomainStartEndE-ValueType
low complexity region 3 29 N/A INTRINSIC
low complexity region 77 86 N/A INTRINSIC
Blast:TPR 87 120 9e-6 BLAST
Blast:TPR 128 160 1e-9 BLAST
Pfam:TPR_12 216 301 1.1e-14 PFAM
Pfam:TPR_10 226 267 2.4e-6 PFAM
Pfam:TPR_10 307 339 5.4e-6 PFAM
Pfam:TPR_2 308 339 8.2e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072916
SMART Domains Protein: ENSMUSP00000072688
Gene: ENSMUSG00000014243

DomainStartEndE-ValueType
Pfam:SWIM 66 114 1.7e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000101075
SMART Domains Protein: ENSMUSP00000098636
Gene: ENSMUSG00000042298

DomainStartEndE-ValueType
low complexity region 3 29 N/A INTRINSIC
low complexity region 77 86 N/A INTRINSIC
Blast:TPR 87 120 9e-6 BLAST
Pfam:TPR_12 210 288 1.8e-14 PFAM
Pfam:TPR_10 213 254 3.4e-6 PFAM
Pfam:TPR_10 255 293 2e-3 PFAM
Pfam:TPR_10 294 327 3.7e-5 PFAM
Pfam:TPR_2 295 326 8e-5 PFAM
Pfam:TPR_1 296 326 8.7e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136477
Predicted Effect probably null
Transcript: ENSMUST00000162385
SMART Domains Protein: ENSMUSP00000125618
Gene: ENSMUSG00000042298

DomainStartEndE-ValueType
Blast:TPR 8 40 4e-10 BLAST
Pfam:TPR_12 97 181 6.3e-15 PFAM
Pfam:TPR_10 106 147 2e-6 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (73/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,539,738 (GRCm39) N1545S probably benign Het
Arid1b C A 17: 5,090,938 (GRCm39) S546R probably damaging Het
Arid3b A T 9: 57,697,713 (GRCm39) probably benign Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Atpaf1 A T 4: 115,645,556 (GRCm39) M142L probably benign Het
Auts2 A G 5: 131,503,809 (GRCm39) S225P probably damaging Het
Bclaf1 A G 10: 20,199,524 (GRCm39) Q20R probably damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cfap221 A G 1: 119,858,650 (GRCm39) S728P probably benign Het
Chrna9 A G 5: 66,134,481 (GRCm39) K444R probably benign Het
Cox10 A T 11: 63,855,081 (GRCm39) V400E probably benign Het
Dact2 C T 17: 14,416,833 (GRCm39) E456K probably benign Het
Ddr2 A G 1: 169,818,178 (GRCm39) V443A probably benign Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
En1 C A 1: 120,531,486 (GRCm39) A242E unknown Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm6124 A T 7: 38,872,195 (GRCm39) noncoding transcript Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hddc2 A T 10: 31,190,583 (GRCm39) M48L possibly damaging Het
Hepacam2 T A 6: 3,487,237 (GRCm39) Y40F probably benign Het
Ift80 A G 3: 68,871,023 (GRCm39) I191T probably damaging Het
Il19 T A 1: 130,862,750 (GRCm39) T58S possibly damaging Het
Itga2 G A 13: 115,002,709 (GRCm39) R594C probably damaging Het
Itga5 C T 15: 103,260,684 (GRCm39) probably null Het
Kcna1 T C 6: 126,618,838 (GRCm39) D494G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kmt2b A T 7: 30,281,261 (GRCm39) probably null Het
Kmt5b T C 19: 3,852,193 (GRCm39) Y125H possibly damaging Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Man1c1 T A 4: 134,291,096 (GRCm39) D600V probably damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,217 (GRCm39) V203A probably damaging Het
Mettl5 T C 2: 69,711,176 (GRCm39) N114S probably benign Het
Mindy2 T A 9: 70,538,376 (GRCm39) R320W probably damaging Het
Nrip1 A G 16: 76,088,876 (GRCm39) S894P probably benign Het
Nup210l A T 3: 90,114,633 (GRCm39) H1736L probably benign Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2aj4 A T 16: 19,384,994 (GRCm39) M213K possibly damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Or2z9 A G 8: 72,853,612 (GRCm39) T3A probably benign Het
Or4e1 T C 14: 52,701,442 (GRCm39) N8S probably damaging Het
Or6b6 A C 7: 106,570,918 (GRCm39) L211R probably damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Plpp4 A G 7: 128,909,356 (GRCm39) E22G probably damaging Het
Ppp4c A G 7: 126,391,231 (GRCm39) probably null Het
Rps15a-ps1 A G 10: 106,028,496 (GRCm39) noncoding transcript Het
Rps27a A G 11: 29,495,933 (GRCm39) Y140H probably benign Het
Sash1 A G 10: 8,606,006 (GRCm39) S795P possibly damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Stk32c T C 7: 138,700,704 (GRCm39) probably null Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Ttf2 T C 3: 100,870,077 (GRCm39) D332G probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vcan A G 13: 89,873,605 (GRCm39) V83A probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Xndc1 T A 7: 101,730,694 (GRCm39) L288M possibly damaging Het
Zfa-ps A T 10: 52,419,807 (GRCm39) noncoding transcript Het
Other mutations in Ttc19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02024:Ttc19 APN 11 62,203,939 (GRCm39) missense probably damaging 1.00
R0091:Ttc19 UTSW 11 62,199,910 (GRCm39) missense probably damaging 1.00
R1929:Ttc19 UTSW 11 62,172,650 (GRCm39) missense probably benign 0.21
R2291:Ttc19 UTSW 11 62,174,519 (GRCm39) missense probably damaging 1.00
R4681:Ttc19 UTSW 11 62,199,917 (GRCm39) nonsense probably null
R4824:Ttc19 UTSW 11 62,199,922 (GRCm39) missense probably benign 0.32
R5411:Ttc19 UTSW 11 62,174,977 (GRCm39) missense probably benign 0.06
R5790:Ttc19 UTSW 11 62,172,340 (GRCm39) start codon destroyed probably null
R6984:Ttc19 UTSW 11 62,204,863 (GRCm39) missense probably damaging 1.00
R9632:Ttc19 UTSW 11 62,203,997 (GRCm39) missense probably benign 0.00
R9710:Ttc19 UTSW 11 62,203,997 (GRCm39) missense probably benign 0.00
Z1176:Ttc19 UTSW 11 62,204,916 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- GGCTTTCAGGCAGAATTCATTATAG -3'
(R):5'- ACCACAGTTCAGTCACAGGG -3'

Sequencing Primer
(F):5'- TCAGGCAGAATTCATTATAGAAGTTG -3'
(R):5'- CCACAGTTCAGTCACAGGGATGAG -3'
Posted On 2015-06-20