Incidental Mutation 'R6059:Ttc5'
ID 483144
Institutional Source Beutler Lab
Gene Symbol Ttc5
Ensembl Gene ENSMUSG00000006288
Gene Name tetratricopeptide repeat domain 5
Synonyms
MMRRC Submission 044225-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R6059 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 51002872-51022976 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 51015303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 103 (V103L)
Ref Sequence ENSEMBL: ENSMUSP00000154412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006451] [ENSMUST00000226768] [ENSMUST00000228440]
AlphaFold Q99LG4
Predicted Effect possibly damaging
Transcript: ENSMUST00000006451
AA Change: V103L

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000006451
Gene: ENSMUSG00000006288
AA Change: V103L

DomainStartEndE-ValueType
Pfam:TPR_2 103 136 1.6e-5 PFAM
Blast:TPR 224 257 2e-8 BLAST
low complexity region 261 280 N/A INTRINSIC
Pfam:TTC5_OB 318 432 3.3e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000226768
AA Change: V103L

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227934
Predicted Effect possibly damaging
Transcript: ENSMUST00000228440
AA Change: V103L

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.4780 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 95% (54/57)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik C A 17: 48,400,847 (GRCm39) T44K probably benign Het
Ablim2 A G 5: 36,014,508 (GRCm39) D189G probably benign Het
Abo A G 2: 26,733,365 (GRCm39) V278A possibly damaging Het
Anxa1 A G 19: 20,355,064 (GRCm39) F237L possibly damaging Het
Atp11b A G 3: 35,868,326 (GRCm39) Y466C possibly damaging Het
Cfh T A 1: 140,046,428 (GRCm39) K531N possibly damaging Het
Cgref1 G T 5: 31,102,728 (GRCm39) P31Q probably damaging Het
Clca3a2 G A 3: 144,516,531 (GRCm39) A355V probably damaging Het
Cntnap5c T A 17: 58,620,707 (GRCm39) C929S probably damaging Het
Col6a6 A T 9: 105,661,116 (GRCm39) V331D probably damaging Het
Cyp4a12b T A 4: 115,295,301 (GRCm39) V469E possibly damaging Het
Dchs2 A G 3: 83,263,043 (GRCm39) S3104G probably benign Het
Ddx24 G T 12: 103,374,559 (GRCm39) A875E probably damaging Het
Dsc1 A T 18: 20,243,299 (GRCm39) N51K probably damaging Het
Efcab3 T C 11: 104,927,595 (GRCm39) I4788T probably benign Het
Epb41l3 C T 17: 69,593,793 (GRCm39) T537I probably damaging Het
Epb41l3 A G 17: 69,591,637 (GRCm39) E708G probably damaging Het
Fam162b A T 10: 51,466,403 (GRCm39) C39S probably benign Het
Garre1 G A 7: 33,944,888 (GRCm39) A452V possibly damaging Het
Gbf1 T C 19: 46,253,687 (GRCm39) I531T probably damaging Het
Glipr1l2 T C 10: 111,919,423 (GRCm39) V48A probably benign Het
Gorasp1 A G 9: 119,759,072 (GRCm39) V177A probably damaging Het
Gys1 A G 7: 45,104,712 (GRCm39) probably null Het
Hif1a T A 12: 73,988,574 (GRCm39) V523E probably damaging Het
Hnrnph3 A T 10: 62,854,641 (GRCm39) probably benign Het
Lcn9 C A 2: 25,714,737 (GRCm39) L159I possibly damaging Het
Luzp1 C T 4: 136,268,791 (GRCm39) A338V probably benign Het
Map3k10 A T 7: 27,356,247 (GRCm39) S891T probably damaging Het
Mmrn2 C T 14: 34,119,548 (GRCm39) Q97* probably null Het
Mov10 G A 3: 104,725,266 (GRCm39) probably benign Het
Ncam1 A C 9: 49,455,966 (GRCm39) Y551D probably damaging Het
Ncf1 A T 5: 134,252,341 (GRCm39) Y237N probably damaging Het
Nipbl A T 15: 8,325,052 (GRCm39) I2537N probably damaging Het
Nlrp1b A T 11: 71,107,836 (GRCm39) V555E possibly damaging Het
Nod2 T C 8: 89,391,042 (GRCm39) Y428H probably damaging Het
Nup133 C A 8: 124,641,335 (GRCm39) A862S probably damaging Het
Pcdhgb2 T A 18: 37,823,078 (GRCm39) L23* probably null Het
Pclo A G 5: 14,861,714 (GRCm39) E4889G unknown Het
Plcd3 T A 11: 102,971,227 (GRCm39) I110F possibly damaging Het
Plxna2 C A 1: 194,493,279 (GRCm39) N1851K possibly damaging Het
Ppp2r5c C A 12: 110,541,222 (GRCm39) A457E probably benign Het
Ppp5c C T 7: 16,761,832 (GRCm39) probably benign Het
Pramel25 T G 4: 143,520,550 (GRCm39) S101A possibly damaging Het
Prg4 T A 1: 150,325,748 (GRCm39) Y1009F possibly damaging Het
Rcor3 A T 1: 191,804,240 (GRCm39) M303K probably benign Het
Rrn3 G A 16: 13,624,468 (GRCm39) M433I probably benign Het
Serpinb9e G A 13: 33,441,757 (GRCm39) V230M probably benign Het
Shisa6 T A 11: 66,115,800 (GRCm39) H279L probably damaging Het
Slc38a11 A T 2: 65,165,089 (GRCm39) I234N probably damaging Het
Socs1 G C 16: 10,602,394 (GRCm39) F114L probably damaging Het
Ssc5d C T 7: 4,945,743 (GRCm39) T925M possibly damaging Het
Stc1 T C 14: 69,269,887 (GRCm39) S156P probably damaging Het
Vmn1r73 A G 7: 11,490,538 (GRCm39) T119A probably benign Het
Vmn2r99 G A 17: 19,599,242 (GRCm39) D309N probably benign Het
Vps53 T C 11: 75,957,693 (GRCm39) H353R possibly damaging Het
Ythdf3 T A 3: 16,257,356 (GRCm39) Y47* probably null Het
Zfp276 T C 8: 123,994,562 (GRCm39) M543T probably damaging Het
Other mutations in Ttc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03398:Ttc5 APN 14 51,018,964 (GRCm39) missense possibly damaging 0.73
R0665:Ttc5 UTSW 14 51,003,415 (GRCm39) missense probably benign 0.17
R0667:Ttc5 UTSW 14 51,003,415 (GRCm39) missense probably benign 0.17
R1125:Ttc5 UTSW 14 51,015,335 (GRCm39) missense probably damaging 1.00
R1186:Ttc5 UTSW 14 51,004,683 (GRCm39) nonsense probably null
R2011:Ttc5 UTSW 14 51,019,007 (GRCm39) nonsense probably null
R2119:Ttc5 UTSW 14 51,012,822 (GRCm39) missense probably damaging 1.00
R4394:Ttc5 UTSW 14 51,018,962 (GRCm39) missense probably benign 0.01
R6050:Ttc5 UTSW 14 51,010,744 (GRCm39) missense probably damaging 1.00
R6329:Ttc5 UTSW 14 51,003,385 (GRCm39) missense possibly damaging 0.94
R6451:Ttc5 UTSW 14 51,004,664 (GRCm39) missense probably damaging 0.99
R6612:Ttc5 UTSW 14 51,022,926 (GRCm39) splice site probably null
R7311:Ttc5 UTSW 14 51,003,400 (GRCm39) missense probably damaging 1.00
R7669:Ttc5 UTSW 14 51,014,787 (GRCm39) missense probably benign 0.00
R7712:Ttc5 UTSW 14 51,010,769 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GACTCAATTCTGATCTGGTGTTC -3'
(R):5'- CTGCACTAAGGTTAGATGGCG -3'

Sequencing Primer
(F):5'- CTTGTCCTAGGGAAATTCAAAGAACC -3'
(R):5'- CACTAAGGTTAGATGGCGTTTCCAG -3'
Posted On 2017-07-14