Incidental Mutation 'R8687:Ttc27'
ID 662101
Institutional Source Beutler Lab
Gene Symbol Ttc27
Ensembl Gene ENSMUSG00000024078
Gene Name tetratricopeptide repeat domain 27
Synonyms 2610511O17Rik
MMRRC Submission 068542-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R8687 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 75024730-75170565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75046679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 247 (Y247N)
Ref Sequence ENSEMBL: ENSMUSP00000024882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024882]
AlphaFold Q8CD92
Predicted Effect probably benign
Transcript: ENSMUST00000024882
AA Change: Y247N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000024882
Gene: ENSMUSG00000024078
AA Change: Y247N

DomainStartEndE-ValueType
TPR 531 564 7.34e-3 SMART
TPR 565 598 5.56e-3 SMART
TPR 599 632 3.81e-1 SMART
Blast:TPR 633 666 7e-15 BLAST
coiled coil region 817 847 N/A INTRINSIC
Meta Mutation Damage Score 0.0943 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 92% (22/24)
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap45 C T 10: 79,852,621 (GRCm39) probably benign Het
B3galt4 A G 17: 34,169,819 (GRCm39) S140P probably damaging Het
Cog6 C T 3: 52,892,338 (GRCm39) V624I probably benign Het
Cysrt1 A G 2: 25,129,399 (GRCm39) S38P possibly damaging Het
Eme2 C T 17: 25,113,813 (GRCm39) V71M possibly damaging Het
Eva1c C A 16: 90,687,433 (GRCm39) T223K probably benign Het
Gm3633 A T 14: 42,462,648 (GRCm39) L81H Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Iqch A T 9: 63,432,067 (GRCm39) W443R probably damaging Het
Itgb1 T C 8: 129,442,697 (GRCm39) V294A probably damaging Het
Kif1b T A 4: 149,345,620 (GRCm39) K407* probably null Het
Kyat1 A G 2: 30,075,759 (GRCm39) S377P probably benign Het
Mical3 A G 6: 120,936,438 (GRCm39) S1363P probably benign Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Naip6 T A 13: 100,435,636 (GRCm39) R962S probably benign Het
Pnma8a T G 7: 16,694,520 (GRCm39) V125G probably damaging Het
Ptpdc1 G A 13: 48,740,136 (GRCm39) P432S possibly damaging Het
Rhobtb2 G A 14: 70,038,104 (GRCm39) T52I probably damaging Het
Slco1a8 C T 6: 141,939,991 (GRCm39) G171S probably damaging Het
Spop G A 11: 95,361,337 (GRCm39) probably benign Het
Stam TGCTGCTGCTGCTGCCGCTGCTGCTGCTG TGCTGCTGCTGCTG 2: 14,151,096 (GRCm39) probably benign Het
Stam CCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG CCTGCCGCTGCTGCTGCTG 2: 14,151,091 (GRCm39) probably benign Het
Tmem102 T C 11: 69,695,441 (GRCm39) H177R probably benign Het
Trpc4ap T C 2: 155,477,170 (GRCm39) T748A possibly damaging Het
Ttc39a T C 4: 109,288,776 (GRCm39) I292T probably damaging Het
Other mutations in Ttc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Ttc27 APN 17 75,087,811 (GRCm39) missense probably damaging 1.00
IGL01508:Ttc27 APN 17 75,142,352 (GRCm39) missense probably damaging 0.98
IGL02010:Ttc27 APN 17 75,087,906 (GRCm39) splice site probably benign
IGL02189:Ttc27 APN 17 75,036,894 (GRCm39) missense probably damaging 0.99
IGL02487:Ttc27 APN 17 75,163,549 (GRCm39) missense probably damaging 1.00
IGL02745:Ttc27 APN 17 75,046,728 (GRCm39) missense probably benign 0.37
IGL02816:Ttc27 APN 17 75,054,769 (GRCm39) splice site probably benign
IGL03389:Ttc27 APN 17 75,165,028 (GRCm39) missense probably benign 0.00
R0024:Ttc27 UTSW 17 75,077,259 (GRCm39) missense possibly damaging 0.79
R0511:Ttc27 UTSW 17 75,025,710 (GRCm39) missense probably benign 0.22
R0518:Ttc27 UTSW 17 75,163,544 (GRCm39) missense possibly damaging 0.80
R0521:Ttc27 UTSW 17 75,163,544 (GRCm39) missense possibly damaging 0.80
R0633:Ttc27 UTSW 17 75,036,972 (GRCm39) missense probably benign 0.02
R1415:Ttc27 UTSW 17 75,046,667 (GRCm39) missense probably benign
R1597:Ttc27 UTSW 17 75,170,402 (GRCm39) missense possibly damaging 0.95
R1961:Ttc27 UTSW 17 75,087,851 (GRCm39) missense probably damaging 0.99
R2038:Ttc27 UTSW 17 75,163,497 (GRCm39) missense probably benign 0.00
R3012:Ttc27 UTSW 17 75,147,454 (GRCm39) missense probably benign 0.17
R3619:Ttc27 UTSW 17 75,058,123 (GRCm39) splice site probably null
R4155:Ttc27 UTSW 17 75,147,455 (GRCm39) missense probably benign 0.09
R4272:Ttc27 UTSW 17 75,147,355 (GRCm39) missense probably damaging 1.00
R4291:Ttc27 UTSW 17 75,163,474 (GRCm39) missense probably damaging 1.00
R4557:Ttc27 UTSW 17 75,136,544 (GRCm39) missense probably benign 0.00
R5068:Ttc27 UTSW 17 75,106,337 (GRCm39) missense probably damaging 1.00
R5069:Ttc27 UTSW 17 75,106,337 (GRCm39) missense probably damaging 1.00
R5070:Ttc27 UTSW 17 75,106,337 (GRCm39) missense probably damaging 1.00
R5074:Ttc27 UTSW 17 75,054,750 (GRCm39) missense probably damaging 1.00
R5169:Ttc27 UTSW 17 75,054,690 (GRCm39) nonsense probably null
R5203:Ttc27 UTSW 17 75,084,649 (GRCm39) missense probably damaging 1.00
R5272:Ttc27 UTSW 17 75,049,972 (GRCm39) missense probably damaging 1.00
R6260:Ttc27 UTSW 17 75,165,086 (GRCm39) missense probably damaging 0.99
R6797:Ttc27 UTSW 17 75,036,883 (GRCm39) missense probably benign 0.28
R6830:Ttc27 UTSW 17 75,163,550 (GRCm39) nonsense probably null
R6987:Ttc27 UTSW 17 75,084,736 (GRCm39) critical splice donor site probably null
R7121:Ttc27 UTSW 17 75,054,710 (GRCm39) missense probably benign 0.04
R7393:Ttc27 UTSW 17 75,077,259 (GRCm39) missense possibly damaging 0.79
R7543:Ttc27 UTSW 17 75,024,745 (GRCm39) start gained probably benign
R7635:Ttc27 UTSW 17 75,025,710 (GRCm39) missense probably benign 0.22
R8231:Ttc27 UTSW 17 75,024,959 (GRCm39) missense probably benign 0.19
R8365:Ttc27 UTSW 17 75,054,669 (GRCm39) missense probably damaging 1.00
R8464:Ttc27 UTSW 17 75,024,925 (GRCm39) missense probably benign
R8493:Ttc27 UTSW 17 75,050,047 (GRCm39) critical splice donor site probably null
X0026:Ttc27 UTSW 17 75,163,432 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- CCTCAGCTGTTGACTACTGTTG -3'
(R):5'- GCTGATAAAGGCTACGGCTC -3'

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