Incidental Mutation 'IGL02189:Ttc27'
ID283782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc27
Ensembl Gene ENSMUSG00000024078
Gene Nametetratricopeptide repeat domain 27
Synonyms2610511O17Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.958) question?
Stock #IGL02189
Quality Score
Status
Chromosome17
Chromosomal Location74717750-74863570 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 74729899 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 189 (T189M)
Ref Sequence ENSEMBL: ENSMUSP00000024882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024882]
Predicted Effect probably damaging
Transcript: ENSMUST00000024882
AA Change: T189M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024882
Gene: ENSMUSG00000024078
AA Change: T189M

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,000,230 K57E probably damaging Het
9930111J21Rik1 A T 11: 48,947,421 Y780N probably benign Het
Aadacl2 T C 3: 60,025,188 S375P probably damaging Het
Abi1 A C 2: 23,040,064 M1R probably null Het
Acss1 T C 2: 150,629,868 D322G probably damaging Het
Adam22 G A 5: 8,330,029 R90W possibly damaging Het
Agtpbp1 T C 13: 59,500,461 H515R probably benign Het
BC003331 G T 1: 150,372,033 N356K possibly damaging Het
C3 T C 17: 57,220,113 K779E probably benign Het
Cfhr2 A G 1: 139,821,759 Y162H probably damaging Het
Chchd5 T C 2: 129,133,268 probably benign Het
Csmd1 T A 8: 16,271,606 I493F probably damaging Het
Daam1 A T 12: 71,946,285 R349S unknown Het
Dnah11 T C 12: 118,082,579 E1708G probably benign Het
Epg5 A G 18: 78,012,870 D1753G probably damaging Het
Flt4 T G 11: 49,626,003 C206G probably damaging Het
Fscn1 G T 5: 142,960,620 A58S possibly damaging Het
Gapvd1 A T 2: 34,728,544 N272K probably damaging Het
Gem T A 4: 11,706,121 S70T possibly damaging Het
H2-K1 A G 17: 33,999,492 L150P probably damaging Het
Hsd3b3 T A 3: 98,742,138 I290L probably benign Het
Iws1 A G 18: 32,093,125 R689G probably damaging Het
Klk1b22 A G 7: 44,116,206 probably null Het
Klra4 T A 6: 130,044,142 D230V possibly damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lilra5 A T 7: 4,237,969 M21L probably benign Het
Lrrc20 T A 10: 61,527,108 V44D possibly damaging Het
Mtx1 T G 3: 89,209,317 M426L probably damaging Het
Mylk2 C T 2: 152,915,154 P283L probably damaging Het
Mynn T A 3: 30,613,544 probably benign Het
Olfr1231 A C 2: 89,303,297 C98W probably damaging Het
Parl T A 16: 20,297,703 I116F probably damaging Het
Pdlim3 T C 8: 45,885,593 V5A probably damaging Het
Pld1 G A 3: 28,120,783 V857I probably benign Het
Ptprf T A 4: 118,213,642 probably benign Het
Ptprn A G 1: 75,258,495 S170P possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rps27a C A 11: 29,546,772 Q40H probably damaging Het
Ryr3 A T 2: 112,754,838 probably benign Het
Scube3 G T 17: 28,162,996 C332F probably benign Het
Sh3glb2 T C 2: 30,345,339 probably null Het
Sh3tc2 A G 18: 61,990,622 E818G probably benign Het
Slc16a3 G A 11: 120,956,771 V262I probably benign Het
Sptbn1 T A 11: 30,117,871 D1781V probably damaging Het
Ssr1 C T 13: 37,987,516 probably null Het
Tep1 A G 14: 50,826,826 L2442S probably benign Het
Tonsl A T 15: 76,623,178 V94D possibly damaging Het
Ttc22 A T 4: 106,639,157 H468L probably benign Het
Ttn T C 2: 76,890,156 probably benign Het
Ttn T G 2: 76,759,895 I21157L probably damaging Het
Vav3 T A 3: 109,525,960 probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Ttc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Ttc27 APN 17 74780816 missense probably damaging 1.00
IGL01508:Ttc27 APN 17 74835357 missense probably damaging 0.98
IGL02010:Ttc27 APN 17 74780911 splice site probably benign
IGL02487:Ttc27 APN 17 74856554 missense probably damaging 1.00
IGL02745:Ttc27 APN 17 74739733 missense probably benign 0.37
IGL02816:Ttc27 APN 17 74747774 splice site probably benign
IGL03389:Ttc27 APN 17 74858033 missense probably benign 0.00
R0024:Ttc27 UTSW 17 74770264 missense possibly damaging 0.79
R0511:Ttc27 UTSW 17 74718715 missense probably benign 0.22
R0518:Ttc27 UTSW 17 74856549 missense possibly damaging 0.80
R0521:Ttc27 UTSW 17 74856549 missense possibly damaging 0.80
R0633:Ttc27 UTSW 17 74729977 missense probably benign 0.02
R1415:Ttc27 UTSW 17 74739672 missense probably benign
R1597:Ttc27 UTSW 17 74863407 missense possibly damaging 0.95
R1961:Ttc27 UTSW 17 74780856 missense probably damaging 0.99
R2038:Ttc27 UTSW 17 74856502 missense probably benign 0.00
R3012:Ttc27 UTSW 17 74840459 missense probably benign 0.17
R3619:Ttc27 UTSW 17 74751128 splice site probably null
R4155:Ttc27 UTSW 17 74840460 missense probably benign 0.09
R4272:Ttc27 UTSW 17 74840360 missense probably damaging 1.00
R4291:Ttc27 UTSW 17 74856479 missense probably damaging 1.00
R4557:Ttc27 UTSW 17 74829549 missense probably benign 0.00
R5068:Ttc27 UTSW 17 74799342 missense probably damaging 1.00
R5069:Ttc27 UTSW 17 74799342 missense probably damaging 1.00
R5070:Ttc27 UTSW 17 74799342 missense probably damaging 1.00
R5074:Ttc27 UTSW 17 74747755 missense probably damaging 1.00
R5169:Ttc27 UTSW 17 74747695 nonsense probably null
R5203:Ttc27 UTSW 17 74777654 missense probably damaging 1.00
R5272:Ttc27 UTSW 17 74742977 missense probably damaging 1.00
R6260:Ttc27 UTSW 17 74858091 missense probably damaging 0.99
R6797:Ttc27 UTSW 17 74729888 missense probably benign 0.28
R6830:Ttc27 UTSW 17 74856555 nonsense probably null
R6987:Ttc27 UTSW 17 74777741 critical splice donor site probably null
R7121:Ttc27 UTSW 17 74747715 missense probably benign 0.04
R7393:Ttc27 UTSW 17 74770264 missense possibly damaging 0.79
R7543:Ttc27 UTSW 17 74717750 start gained probably benign
R7635:Ttc27 UTSW 17 74718715 missense probably benign 0.22
X0026:Ttc27 UTSW 17 74856437 missense probably benign 0.19
Posted On2015-04-16