Incidental Mutation 'R6797:Ttc27'
ID 533076
Institutional Source Beutler Lab
Gene Symbol Ttc27
Ensembl Gene ENSMUSG00000024078
Gene Name tetratricopeptide repeat domain 27
Synonyms 2610511O17Rik
MMRRC Submission 044910-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R6797 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 75024730-75170565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 75036883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 185 (L185F)
Ref Sequence ENSEMBL: ENSMUSP00000024882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024882]
AlphaFold Q8CD92
Predicted Effect probably benign
Transcript: ENSMUST00000024882
AA Change: L185F

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000024882
Gene: ENSMUSG00000024078
AA Change: L185F

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.8%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c18 T A 13: 4,195,276 (GRCm39) I61L probably benign Het
Angptl2 T C 2: 33,118,277 (GRCm39) V17A probably benign Het
Casp14 T C 10: 78,550,975 (GRCm39) D70G possibly damaging Het
Cckbr A G 7: 105,083,773 (GRCm39) M234V possibly damaging Het
Cd93 T C 2: 148,284,044 (GRCm39) N434S probably benign Het
Cenpe A T 3: 134,943,899 (GRCm39) Q938L possibly damaging Het
Col6a3 A C 1: 90,731,810 (GRCm39) V1481G probably damaging Het
Dnah5 G T 15: 28,233,384 (GRCm39) E248* probably null Het
Dnah5 G A 15: 28,451,609 (GRCm39) R4349Q probably damaging Het
F11 A G 8: 45,706,092 (GRCm39) Y98H probably benign Het
Fen1 A G 19: 10,178,067 (GRCm39) F126L probably benign Het
Gpr146 G A 5: 139,378,795 (GRCm39) G199D possibly damaging Het
Gramd1b A G 9: 40,219,702 (GRCm39) I324T probably benign Het
H2bc12 A T 13: 22,220,259 (GRCm39) N68I probably benign Het
Hivep1 C A 13: 42,310,557 (GRCm39) S932R probably benign Het
Hk3 A T 13: 55,158,644 (GRCm39) probably null Het
Hspbp1 T A 7: 4,663,781 (GRCm39) M355L possibly damaging Het
Jaml T C 9: 45,000,058 (GRCm39) C77R probably damaging Het
Kmt2e A G 5: 23,687,505 (GRCm39) N452D possibly damaging Het
Krt5 T C 15: 101,621,076 (GRCm39) Y57C unknown Het
Lipn A T 19: 34,058,160 (GRCm39) M294L probably benign Het
Magel2 A G 7: 62,029,907 (GRCm39) E937G unknown Het
Med13l G A 5: 118,897,329 (GRCm39) probably null Het
Mrgprb8 G A 7: 48,038,892 (GRCm39) V188I probably benign Het
Ocln T C 13: 100,676,223 (GRCm39) D90G probably damaging Het
Ofcc1 C T 13: 40,241,423 (GRCm39) R695Q possibly damaging Het
Or11h23 T A 14: 50,948,563 (GRCm39) Y259N probably damaging Het
Or52ab7 G A 7: 102,978,328 (GRCm39) V212I probably benign Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pak5 A T 2: 135,939,454 (GRCm39) H560Q probably damaging Het
Pigg T C 5: 108,480,694 (GRCm39) S493P probably damaging Het
Ppp6r3 A G 19: 3,564,719 (GRCm39) W185R probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sacs T A 14: 61,450,522 (GRCm39) D4189E probably damaging Het
Serpinb9b A G 13: 33,213,467 (GRCm39) N8S possibly damaging Het
Slit3 A G 11: 35,524,779 (GRCm39) T730A possibly damaging Het
Srgap3 A T 6: 112,806,503 (GRCm39) F53I probably damaging Het
Stc2 T A 11: 31,315,351 (GRCm39) K163* probably null Het
Tasor2 T C 13: 3,626,769 (GRCm39) I1060M probably benign Het
Tlk1 T A 2: 70,568,770 (GRCm39) K411* probably null Het
Vmn2r102 C T 17: 19,880,694 (GRCm39) Q12* probably null Het
Vmn2r95 C T 17: 18,672,551 (GRCm39) probably benign Het
Vopp1 A G 6: 57,739,492 (GRCm39) Y19H possibly damaging Het
Wdr64 T A 1: 175,638,176 (GRCm39) probably null 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
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'- ATGGATCCAAGGTTTTGATCCT -3'
(R):5'- GTCAAAGGAAACATTCAAGTGAAACCT -3'

Sequencing Primer
(F):5'- TCCTGGTGAGAACATGCATG -3'
(R):5'- ATAGGCGTGTCTACTCCAAAGCTG -3'
Posted On 2018-08-29