Incidental Mutation 'R1248:Ttll1'
ID 152204
Institutional Source Beutler Lab
Gene Symbol Ttll1
Ensembl Gene ENSMUSG00000022442
Gene Name tubulin tyrosine ligase-like 1
Synonyms 6330444E16Rik
MMRRC Submission 039315-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # R1248 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 83367970-83395094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 83386326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 93 (S93T)
Ref Sequence ENSEMBL: ENSMUSP00000105106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016897] [ENSMUST00000109479] [ENSMUST00000109480] [ENSMUST00000154401]
AlphaFold Q91V51
Predicted Effect probably benign
Transcript: ENSMUST00000016897
AA Change: S93T

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000016897
Gene: ENSMUSG00000022442
AA Change: S93T

DomainStartEndE-ValueType
Pfam:TTL 50 364 5.3e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109479
AA Change: S93T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000105105
Gene: ENSMUSG00000022442
AA Change: S93T

DomainStartEndE-ValueType
Pfam:TTL 49 297 1.5e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109480
AA Change: S93T

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105106
Gene: ENSMUSG00000022442
AA Change: S93T

DomainStartEndE-ValueType
Pfam:TTL 50 364 6.6e-116 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131380
Predicted Effect probably benign
Transcript: ENSMUST00000154401
SMART Domains Protein: ENSMUSP00000117790
Gene: ENSMUSG00000022442

DomainStartEndE-ValueType
Pfam:TTL 48 89 9e-9 PFAM
Meta Mutation Damage Score 0.1048 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency 98% (43/44)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit short sperm flagellum, abnormal tracheal cilia morphology and function, abnormal mucociliary clearance, and rhinosinitus with coughing or sneezing-like noises. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A T 10: 10,271,054 (GRCm39) F863Y probably damaging Het
Akap12 A G 10: 4,303,847 (GRCm39) E219G probably benign Het
Akr1c20 G A 13: 4,564,399 (GRCm39) T38I possibly damaging Het
Ap5z1 C A 5: 142,460,255 (GRCm39) S511R probably benign Het
Arhgap11a T A 2: 113,664,447 (GRCm39) H612L possibly damaging Het
Atp2b2 G T 6: 113,794,153 (GRCm39) S118Y probably damaging Het
Boc A T 16: 44,340,836 (GRCm39) M38K probably benign Het
Ccdc171 A T 4: 83,599,481 (GRCm39) E773D possibly damaging Het
Clxn A G 16: 14,742,001 (GRCm39) M212V probably benign Het
Dmtn C T 14: 70,850,098 (GRCm39) probably benign Het
Dnah10 G A 5: 124,832,887 (GRCm39) probably benign Het
Fam83b T C 9: 76,410,358 (GRCm39) N184S probably benign Het
Fam98c A G 7: 28,852,265 (GRCm39) M98T probably damaging Het
Fbn1 T C 2: 125,143,529 (GRCm39) K2867E probably benign Het
Fsip2 A T 2: 82,820,107 (GRCm39) E5280V possibly damaging Het
Fuom T C 7: 139,679,631 (GRCm39) probably benign Het
Gm3476 A T 14: 6,118,512 (GRCm38) S204T probably benign Het
Grhl3 A G 4: 135,288,617 (GRCm39) F23L probably benign Het
Il4i1 G T 7: 44,489,213 (GRCm39) R334L probably damaging Het
Ipo13 A G 4: 117,758,228 (GRCm39) S712P probably damaging Het
Lama4 G T 10: 38,932,843 (GRCm39) S573I probably damaging Het
Lrp11 A G 10: 7,480,058 (GRCm39) H371R probably benign Het
Mkln1 T A 6: 31,466,303 (GRCm39) I520N probably damaging Het
Nagpa G T 16: 5,016,480 (GRCm39) C236* probably null Het
Nktr A G 9: 121,556,436 (GRCm39) N38S probably damaging Het
Nlrp10 G A 7: 108,525,088 (GRCm39) R131C probably benign Het
Nxpe2 T C 9: 48,231,211 (GRCm39) D386G possibly damaging Het
Prpf39 T A 12: 65,100,740 (GRCm39) probably benign Het
Retreg2 A G 1: 75,121,755 (GRCm39) probably benign Het
S100a4 G T 3: 90,513,084 (GRCm39) S60I possibly damaging Het
Slc12a3 G T 8: 95,059,905 (GRCm39) G184C probably damaging Het
Slc25a46 C T 18: 31,742,807 (GRCm39) D20N possibly damaging Het
Smc3 A G 19: 53,622,509 (GRCm39) K695E probably benign Het
Speer2 A T 16: 69,653,955 (GRCm39) probably null Het
Taar4 T G 10: 23,836,936 (GRCm39) V182G possibly damaging Het
Ubl3 A T 5: 148,443,008 (GRCm39) probably null Het
Vmn2r16 A G 5: 109,508,643 (GRCm39) N457S probably benign Het
Vmn2r72 T C 7: 85,398,396 (GRCm39) E528G probably benign Het
Zfp52 A C 17: 21,780,311 (GRCm39) E53A probably damaging Het
Other mutations in Ttll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02129:Ttll1 APN 15 83,368,450 (GRCm39) missense probably benign
IGL02744:Ttll1 APN 15 83,373,778 (GRCm39) missense probably benign 0.00
R0639:Ttll1 UTSW 15 83,386,426 (GRCm39) nonsense probably null
R1581:Ttll1 UTSW 15 83,380,478 (GRCm39) missense probably damaging 0.99
R1599:Ttll1 UTSW 15 83,381,555 (GRCm39) missense probably benign 0.36
R2264:Ttll1 UTSW 15 83,380,609 (GRCm39) missense probably damaging 1.00
R2923:Ttll1 UTSW 15 83,376,760 (GRCm39) missense probably damaging 0.97
R3786:Ttll1 UTSW 15 83,368,419 (GRCm39) missense probably benign 0.00
R4200:Ttll1 UTSW 15 83,376,778 (GRCm39) missense probably damaging 1.00
R4364:Ttll1 UTSW 15 83,384,195 (GRCm39) missense probably damaging 0.99
R4473:Ttll1 UTSW 15 83,376,810 (GRCm39) missense probably damaging 0.99
R4590:Ttll1 UTSW 15 83,381,546 (GRCm39) missense probably damaging 1.00
R4949:Ttll1 UTSW 15 83,386,374 (GRCm39) missense probably null 1.00
R4970:Ttll1 UTSW 15 83,380,597 (GRCm39) missense probably damaging 1.00
R5112:Ttll1 UTSW 15 83,380,597 (GRCm39) missense probably damaging 1.00
R5231:Ttll1 UTSW 15 83,373,667 (GRCm39) splice site probably null
R5911:Ttll1 UTSW 15 83,386,482 (GRCm39) missense probably benign 0.07
R6368:Ttll1 UTSW 15 83,373,818 (GRCm39) missense probably damaging 1.00
R6636:Ttll1 UTSW 15 83,384,147 (GRCm39) missense probably damaging 1.00
R6959:Ttll1 UTSW 15 83,386,397 (GRCm39) nonsense probably null
R7848:Ttll1 UTSW 15 83,381,573 (GRCm39) missense probably damaging 0.97
R8207:Ttll1 UTSW 15 83,384,279 (GRCm39) missense probably damaging 1.00
R8240:Ttll1 UTSW 15 83,376,783 (GRCm39) missense probably damaging 1.00
R8717:Ttll1 UTSW 15 83,373,709 (GRCm39) missense probably benign 0.01
R9195:Ttll1 UTSW 15 83,373,779 (GRCm39) missense probably benign 0.00
R9583:Ttll1 UTSW 15 83,384,226 (GRCm39) missense possibly damaging 0.91
R9601:Ttll1 UTSW 15 83,380,516 (GRCm39) missense probably benign 0.00
R9663:Ttll1 UTSW 15 83,380,579 (GRCm39) missense possibly damaging 0.50
Z1088:Ttll1 UTSW 15 83,382,390 (GRCm39) missense probably damaging 0.97
Predicted Primers
Posted On 2014-01-29