Incidental Mutation 'R8675:Ttc9'
ID 661355
Institutional Source Beutler Lab
Gene Symbol Ttc9
Ensembl Gene ENSMUSG00000042734
Gene Name tetratricopeptide repeat domain 9
Synonyms 1700029M07Rik
MMRRC Submission 068530-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R8675 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 81678023-81714331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 81707379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 146 (V146G)
Ref Sequence ENSEMBL: ENSMUSP00000048590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036116] [ENSMUST00000218362]
AlphaFold Q3V038
Predicted Effect probably damaging
Transcript: ENSMUST00000036116
AA Change: V146G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048590
Gene: ENSMUSG00000042734
AA Change: V146G

DomainStartEndE-ValueType
low complexity region 16 38 N/A INTRINSIC
TPR 56 89 7.69e1 SMART
TPR 125 160 7.89e1 SMART
TPR 161 194 6.05e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000218362
AA Change: V146G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: This gene encodes a protein that contains three tetratricopeptide repeats. The human gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous KO adult females display increased body, thymus and spleen weights and improved mammary development and sensitivity to estrogen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
Abl2 T C 1: 156,452,909 (GRCm39) V148A probably damaging Het
Cacng7 G A 7: 3,385,221 (GRCm39) V41I probably benign Het
Clrn3 A G 7: 135,115,880 (GRCm39) S157P possibly damaging Het
Dsg2 T A 18: 20,734,975 (GRCm39) N984K possibly damaging Het
Fam83e A G 7: 45,373,293 (GRCm39) T220A probably benign Het
Frk A G 10: 34,484,493 (GRCm39) T489A probably benign Het
Gigyf2 T A 1: 87,331,438 (GRCm39) H195Q unknown Het
Gm49380 C T 9: 44,023,187 (GRCm39) A354T probably benign Het
Igfbpl1 T C 4: 45,813,469 (GRCm39) T249A possibly damaging Het
Il17ra T A 6: 120,458,949 (GRCm39) M700K probably benign Het
Il20 A T 1: 130,835,172 (GRCm39) W171R probably damaging Het
Mfsd4a T C 1: 131,986,926 (GRCm39) Y134C probably damaging Het
Mis12 A G 11: 70,916,500 (GRCm39) S178G probably benign Het
Pcdh1 A G 18: 38,332,229 (GRCm39) V397A probably damaging Het
Pcsk4 T C 10: 80,158,896 (GRCm39) Y499C probably damaging Het
Pgbd1 A G 13: 21,607,183 (GRCm39) L337P probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pih1d1 A G 7: 44,803,806 (GRCm39) K22E unknown Het
Pkd1l1 A G 11: 8,798,916 (GRCm39) probably null Het
Pld2 A G 11: 70,445,713 (GRCm39) D649G probably null Het
Ralgapa1 T C 12: 55,785,002 (GRCm39) T753A possibly damaging Het
Rapgef5 T A 12: 117,547,782 (GRCm39) L141M probably damaging Het
Rasgrp4 G A 7: 28,842,452 (GRCm39) G242D probably damaging Het
Rnf213 T C 11: 119,346,984 (GRCm39) S3682P Het
Scnn1b A G 7: 121,498,474 (GRCm39) K5E probably damaging Het
Smbd1 T C 16: 32,625,340 (GRCm39) *142W probably null Het
Snrnp200 A G 2: 127,074,443 (GRCm39) T1428A possibly damaging Het
Speer1b C T 5: 11,823,973 (GRCm39) R174* probably null Het
Spire1 T C 18: 67,624,378 (GRCm39) T594A possibly damaging Het
Spta1 A G 1: 174,058,249 (GRCm39) T1906A probably benign Het
Stx16 T C 2: 173,934,255 (GRCm39) S152P probably benign Het
Tcp11 T A 17: 28,288,565 (GRCm39) Q331L probably benign Het
Tmem106a T A 11: 101,481,222 (GRCm39) Y243* probably null Het
Tmem268 C T 4: 63,502,108 (GRCm39) T312M probably damaging Het
Ubr3 T A 2: 69,850,865 (GRCm39) I1758N probably damaging Het
Unc13a G A 8: 72,098,359 (GRCm39) T1142I probably benign Het
Vipr1 T C 9: 121,493,732 (GRCm39) L261P probably damaging Het
Vmn1r222 A T 13: 23,416,607 (GRCm39) V202E probably damaging Het
Zfp78 A G 7: 6,381,280 (GRCm39) N110S probably benign Het
Other mutations in Ttc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Ttc9 APN 12 81,678,536 (GRCm39) missense possibly damaging 0.47
IGL02366:Ttc9 APN 12 81,678,384 (GRCm39) missense possibly damaging 0.92
R0494:Ttc9 UTSW 12 81,678,423 (GRCm39) missense probably damaging 1.00
R1892:Ttc9 UTSW 12 81,678,551 (GRCm39) missense probably benign
R2069:Ttc9 UTSW 12 81,678,570 (GRCm39) missense probably damaging 1.00
R4679:Ttc9 UTSW 12 81,678,375 (GRCm39) missense probably damaging 0.99
R5828:Ttc9 UTSW 12 81,678,450 (GRCm39) missense probably benign 0.01
R5876:Ttc9 UTSW 12 81,678,396 (GRCm39) missense probably damaging 1.00
R8200:Ttc9 UTSW 12 81,707,435 (GRCm39) missense probably damaging 1.00
R9626:Ttc9 UTSW 12 81,710,301 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CACTGTAACATGATGACACTGCC -3'
(R):5'- TAGGAACTGTCAGGGGTGTC -3'

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