Incidental Mutation 'F6893:Ttll10'
ID202
Institutional Source Beutler Lab
Gene Symbol Ttll10
Ensembl Gene ENSMUSG00000029074
Gene Nametubulin tyrosine ligase-like family, member 10
Synonyms4930595O22Rik, Ttll5, 4833412E22Rik
Accession Numbers

Genbank: NM_029264; MGI: 1921855

Is this an essential gene? Probably non essential (E-score: 0.206) question?
Stock #F6893 (G3) of strain busy
Quality Score
Status Validated
Chromosome4
Chromosomal Location156034840-156059414 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 156048318 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 74 (I74T)
Ref Sequence ENSEMBL: ENSMUSP00000055671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051509] [ENSMUST00000184348]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000030951
SMART Domains Protein: ENSMUSP00000030951
Gene: ENSMUSG00000029074

DomainStartEndE-ValueType
low complexity region 15 29 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000051509
AA Change: I74T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000055671
Gene: ENSMUSG00000029074
AA Change: I74T

DomainStartEndE-ValueType
low complexity region 14 29 N/A INTRINSIC
low complexity region 63 73 N/A INTRINSIC
low complexity region 104 118 N/A INTRINSIC
Pfam:TTL 189 507 1.8e-48 PFAM
low complexity region 541 583 N/A INTRINSIC
low complexity region 587 600 N/A INTRINSIC
low complexity region 622 638 N/A INTRINSIC
low complexity region 652 671 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097731
SMART Domains Protein: ENSMUSP00000095337
Gene: ENSMUSG00000029074

DomainStartEndE-ValueType
low complexity region 92 102 N/A INTRINSIC
low complexity region 267 282 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153649
SMART Domains Protein: ENSMUSP00000116933
Gene: ENSMUSG00000029074

DomainStartEndE-ValueType
low complexity region 15 29 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183563
Predicted Effect probably benign
Transcript: ENSMUST00000184348
AA Change: I103T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139316
Gene: ENSMUSG00000029074
AA Change: I103T

DomainStartEndE-ValueType
low complexity region 92 102 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
Pfam:TTL 218 536 7.9e-48 PFAM
low complexity region 570 612 N/A INTRINSIC
low complexity region 616 629 N/A INTRINSIC
low complexity region 651 667 N/A INTRINSIC
low complexity region 681 700 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184750
Meta Mutation Damage Score 0.238 question?
Coding Region Coverage
  • 1x: 88.7%
  • 3x: 74.0%
Validation Efficiency 88% (165/188)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 120,325,038 V1638M probably damaging Het
Agrn C T 4: 156,174,179 R972Q probably benign Het
Anxa3 T C 5: 96,824,994 probably benign Het
Bpifa6 G T 2: 153,987,158 D202Y probably damaging Het
Ccdc15 G A 9: 37,315,640 T346I probably damaging Homo
Celsr3 G A 9: 108,835,067 R1729H probably benign Het
Ces4a A G 8: 105,147,227 R443G possibly damaging Het
Chd2 T C 7: 73,507,872 Q175R possibly damaging Het
Dpyd T A 3: 118,804,134 probably null Het
Dscam G T 16: 97,056,460 H117N possibly damaging Het
F13a1 A G 13: 36,972,025 Y205H probably damaging Het
Fat3 A C 9: 16,006,789 L1446R probably damaging Homo
Golga4 T C 9: 118,553,457 L543S probably damaging Het
Hoxb1 A T 11: 96,365,902 T26S probably benign Het
Igsf10 T G 3: 59,331,060 T567P probably damaging Het
Lamb2 T C 9: 108,482,556 V365A probably benign Het
Mepe A G 5: 104,337,376 I127M possibly damaging Het
Mpi A T 9: 57,546,549 M230K probably benign Homo
Myh4 A G 11: 67,255,457 D1447G probably null Homo
Olfr161 A G 16: 3,593,163 I256V possibly damaging Het
Olfr350 A G 2: 36,850,807 T254A probably benign Het
Panx2 T C 15: 89,068,010 Y235H probably damaging Homo
Pdzd7 A G 19: 45,036,734 W441R probably damaging Het
Poldip2 A G 11: 78,519,194 I267M probably damaging Homo
Pros1 T A 16: 62,924,639 V539E probably damaging Het
Sacs T C 14: 61,212,976 M4157T probably benign Het
Slc45a3 A G 1: 131,981,337 E424G probably benign Homo
Slc9a1 A G 4: 133,422,146 E761G probably benign Homo
Stab2 G A 10: 86,855,171 P2178L probably damaging Het
Syt4 C T 18: 31,444,221 V27I possibly damaging Homo
Thumpd1 T A 7: 119,720,576 K56* probably null Het
Tpr A G 1: 150,393,562 K19E possibly damaging Homo
Txnrd1 C T 10: 82,866,989 probably null Homo
Zc3h7b A G 15: 81,778,671 E421G possibly damaging Homo
Zc3hc1 G T 6: 30,387,526 D51E probably benign Homo
Other mutations in Ttll10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Ttll10 APN 4 156046894 missense probably benign 0.09
IGL02109:Ttll10 APN 4 156047480 unclassified probably benign
IGL02121:Ttll10 APN 4 156048433 missense probably benign 0.04
R0366:Ttll10 UTSW 4 156035155 missense probably damaging 0.97
R0502:Ttll10 UTSW 4 156047548 splice site noncoding transcript
R0503:Ttll10 UTSW 4 156047548 splice site noncoding transcript
R0523:Ttll10 UTSW 4 156045361 nonsense probably null
R0865:Ttll10 UTSW 4 156043678 missense probably damaging 1.00
R0907:Ttll10 UTSW 4 156036164 nonsense probably null
R1125:Ttll10 UTSW 4 156035038 missense possibly damaging 0.73
R1555:Ttll10 UTSW 4 156035139 missense probably benign 0.00
R1797:Ttll10 UTSW 4 156047567 missense probably damaging 0.96
R3899:Ttll10 UTSW 4 156035800 missense probably damaging 1.00
R4426:Ttll10 UTSW 4 156048561 missense possibly damaging 0.55
R5715:Ttll10 UTSW 4 156045391 missense probably damaging 1.00
R5762:Ttll10 UTSW 4 156034981 missense possibly damaging 0.93
R5814:Ttll10 UTSW 4 156047627 missense possibly damaging 0.51
R5958:Ttll10 UTSW 4 156036066 intron probably null
R5994:Ttll10 UTSW 4 156048732 intron probably null
R6084:Ttll10 UTSW 4 156045357 missense probably benign 0.34
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to C transition at position 424 of the Ttll10 transcript in exon 4 of 15 total exons.  Multiple transcripts of the Ttll10 gene are displayed at Ensembl. The mutated nucleotide causes an isoleucine to threonine substitution at amino acid 103 in isoform 1 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
 

 

Protein Function & Prediction
The Ttll10gene encodes a 704 amino acid polyglycylase that modifies tubulin and non-tubulin proteins, generating side chains of glycine on the gamma-carboxyl groups of specific glutamate residues of target proteins. The catalytic domain occurs at amino acids169-540 (Uniprot A4Q9F3).
 
The I103T is predicted to be benign by the PolyPhenprogram.
Posted OnMay 04, 2010