Incidental Mutation 'IGL02129:Ttll1'
ID 280967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttll1
Ensembl Gene ENSMUSG00000022442
Gene Name tubulin tyrosine ligase-like 1
Synonyms 6330444E16Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # IGL02129
Quality Score
Status
Chromosome 15
Chromosomal Location 83367970-83395094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83368450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 403 (P403S)
Ref Sequence ENSEMBL: ENSMUSP00000105106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016897] [ENSMUST00000109480]
AlphaFold Q91V51
Predicted Effect probably benign
Transcript: ENSMUST00000016897
AA Change: P403S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000016897
Gene: ENSMUSG00000022442
AA Change: P403S

DomainStartEndE-ValueType
Pfam:TTL 50 364 5.3e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109480
AA Change: P403S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105106
Gene: ENSMUSG00000022442
AA Change: P403S

DomainStartEndE-ValueType
Pfam:TTL 50 364 6.6e-116 PFAM
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1a3 T A 7: 24,696,711 (GRCm39) H293L probably damaging Het
AU040320 A G 4: 126,717,485 (GRCm39) Y354C probably damaging Het
Bag4 T C 8: 26,258,113 (GRCm39) T405A probably damaging Het
Best1 T A 19: 9,970,285 (GRCm39) Q109L probably benign Het
Bod1l G A 5: 41,979,193 (GRCm39) T707I probably benign Het
Bora G A 14: 99,294,257 (GRCm39) probably null Het
Btnl9 A C 11: 49,060,100 (GRCm39) D464E probably damaging Het
Cebpe T A 14: 54,949,070 (GRCm39) R116W probably damaging Het
Col6a6 T C 9: 105,613,539 (GRCm39) probably benign Het
Copb2 T C 9: 98,467,976 (GRCm39) probably benign Het
Ep300 A G 15: 81,470,837 (GRCm39) E3G unknown Het
Fam117b A G 1: 60,020,582 (GRCm39) H484R probably benign Het
Fgb T A 3: 82,950,725 (GRCm39) K343M probably benign Het
Fkbpl C T 17: 34,864,952 (GRCm39) T240M probably damaging Het
Gemin6 T C 17: 80,535,355 (GRCm39) L105P probably damaging Het
Heatr3 T C 8: 88,884,899 (GRCm39) probably benign Het
Itch C T 2: 155,059,908 (GRCm39) probably benign Het
Kank3 C T 17: 34,036,465 (GRCm39) P111L probably benign Het
Mthfsl T A 9: 88,597,589 (GRCm39) I111F probably damaging Het
Mtor A T 4: 148,634,302 (GRCm39) M2382L possibly damaging Het
Myh2 A G 11: 67,076,084 (GRCm39) D757G probably benign Het
Naa35 A G 13: 59,757,339 (GRCm39) D238G probably damaging Het
Nckap5 A T 1: 125,955,432 (GRCm39) Y373* probably null Het
Or5an10 T A 19: 12,275,822 (GRCm39) I225F probably damaging Het
Pigm G A 1: 172,205,434 (GRCm39) W390* probably null Het
Plxnb2 A G 15: 89,044,613 (GRCm39) V1211A probably benign Het
Sh3yl1 T A 12: 30,992,876 (GRCm39) probably benign Het
Spg11 T A 2: 121,926,167 (GRCm39) Q709H probably damaging Het
Spr-ps1 A G 6: 85,132,804 (GRCm39) noncoding transcript Het
Tc2n T C 12: 101,656,048 (GRCm39) N208D probably damaging Het
Tdo2 C T 3: 81,866,232 (GRCm39) V344M probably damaging Het
Usp20 T C 2: 30,894,462 (GRCm39) V126A probably benign Het
Zfp109 T C 7: 23,936,054 (GRCm39) T2A possibly damaging Het
Other mutations in Ttll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02744:Ttll1 APN 15 83,373,778 (GRCm39) missense probably benign 0.00
R0639:Ttll1 UTSW 15 83,386,426 (GRCm39) nonsense probably null
R1248:Ttll1 UTSW 15 83,386,326 (GRCm39) missense probably benign 0.13
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
Posted On 2015-04-16