Incidental Mutation 'R1415:Ttc27'
ID 159788
Institutional Source Beutler Lab
Gene Symbol Ttc27
Ensembl Gene ENSMUSG00000024078
Gene Name tetratricopeptide repeat domain 27
Synonyms 2610511O17Rik
MMRRC Submission 039471-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R1415 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 75024730-75170565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75046667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 243 (H243Y)
Ref Sequence ENSEMBL: ENSMUSP00000024882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024882]
AlphaFold Q8CD92
Predicted Effect probably benign
Transcript: ENSMUST00000024882
AA Change: H243Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024882
Gene: ENSMUSG00000024078
AA Change: H243Y

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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,303,982 (GRCm39) V135A probably benign Het
Adam21 C T 12: 81,606,321 (GRCm39) W480* probably null Het
Ccdc71 T A 9: 108,340,407 (GRCm39) Y73* probably null Het
Cfap44 T A 16: 44,301,752 (GRCm39) I1830N probably damaging Het
Dnajb11 T C 16: 22,689,371 (GRCm39) V264A probably benign Het
Fam135b T C 15: 71,328,777 (GRCm39) E1174G probably damaging Het
Fam83e G A 7: 45,376,135 (GRCm39) E283K probably damaging Het
Gigyf1 A G 5: 137,517,478 (GRCm39) probably null Het
Letm1 A T 5: 33,926,906 (GRCm39) N130K probably benign Het
Lrp1b T C 2: 40,519,676 (GRCm39) Y137C probably damaging Het
Map3k2 A G 18: 32,361,330 (GRCm39) I597V possibly damaging Het
Nek1 A G 8: 61,542,720 (GRCm39) E770G probably benign Het
Or4d2b A C 11: 87,780,473 (GRCm39) V83G possibly damaging Het
Or52n2b A G 7: 104,565,543 (GRCm39) I320T probably benign Het
Pank2 T A 2: 131,124,638 (GRCm39) Y68* probably null Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Secisbp2l C A 2: 125,582,285 (GRCm39) G1057V probably benign Het
Slc30a2 C T 4: 134,076,660 (GRCm39) T265M probably damaging Het
Smarca2 A G 19: 26,688,084 (GRCm39) E1239G probably null Het
Snx30 C T 4: 59,879,261 (GRCm39) R167C probably damaging Het
Tmem26 T C 10: 68,614,491 (GRCm39) F302S possibly damaging Het
Tpgs2 A G 18: 25,301,610 (GRCm39) L19S probably damaging Het
Trp53bp1 T G 2: 121,066,665 (GRCm39) E687A probably damaging Het
Wdfy4 A T 14: 32,763,137 (GRCm39) V2318D possibly damaging Het
Wdr59 G A 8: 112,225,228 (GRCm39) P141S probably damaging Het
Zbed6 C T 1: 133,585,556 (GRCm39) V594M possibly damaging Het
Zfp787 C A 7: 6,135,694 (GRCm39) G186C 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
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
R8687:Ttc27 UTSW 17 75,046,679 (GRCm39) missense probably benign 0.00
X0026:Ttc27 UTSW 17 75,163,432 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- GACTGATTGTGTGGGTACAGAAGGC -3'
(R):5'- TGGAAGGGCATCCCAGATTCCAAC -3'

Sequencing Primer
(F):5'- TGCAGCATATAAATCTGAGAACCTC -3'
(R):5'- TACACGTTCAAGGCCAGTCTG -3'
Posted On 2014-03-14