Incidental Mutation 'IGL02234:Ttll8'
ID 285835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttll8
Ensembl Gene ENSMUSG00000022388
Gene Name tubulin tyrosine ligase-like family, member 8
Synonyms 1700019P01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # IGL02234
Quality Score
Status
Chromosome 15
Chromosomal Location 88774836-88838621 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88798252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 828 (I828F)
Ref Sequence ENSEMBL: ENSMUSP00000104996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109371] [ENSMUST00000177180]
AlphaFold A4Q9F1
Predicted Effect possibly damaging
Transcript: ENSMUST00000109371
AA Change: I828F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104996
Gene: ENSMUSG00000022388
AA Change: I828F

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
low complexity region 273 285 N/A INTRINSIC
Pfam:TTL 324 621 3.9e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137740
Predicted Effect probably benign
Transcript: ENSMUST00000177180
SMART Domains Protein: ENSMUSP00000135381
Gene: ENSMUSG00000022388

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177254
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,645,179 (GRCm39) T1010M possibly damaging Het
Atr A G 9: 95,829,303 (GRCm39) probably benign Het
Cdc42bpa A T 1: 179,978,756 (GRCm39) K1585* probably null Het
Cdh19 T C 1: 110,859,956 (GRCm39) D175G probably damaging Het
Celsr3 G T 9: 108,707,159 (GRCm39) R1214L probably benign Het
Chchd1 T C 14: 20,753,478 (GRCm39) probably null Het
Col4a1 T C 8: 11,266,713 (GRCm39) K1165E probably damaging Het
Col6a4 A G 9: 105,890,631 (GRCm39) F1888L possibly damaging Het
Csmd3 C A 15: 47,811,512 (GRCm39) R1193L probably damaging Het
Cyp2d11 T A 15: 82,274,340 (GRCm39) H347L probably benign Het
Cyp4f13 A G 17: 33,143,748 (GRCm39) probably benign Het
Dop1b T C 16: 93,549,039 (GRCm39) V193A probably benign Het
Dus4l T C 12: 31,691,495 (GRCm39) probably benign Het
Epc1 G A 18: 6,439,938 (GRCm39) H79Y probably damaging Het
Gm12588 T A 11: 121,799,151 (GRCm39) Het
Gpr107 T C 2: 31,067,845 (GRCm39) Y222H probably damaging Het
Gzmn C T 14: 56,406,464 (GRCm39) probably null Het
Helq A G 5: 100,944,336 (GRCm39) I258T possibly damaging Het
Hsp90ab1 T C 17: 45,880,661 (GRCm39) K137R probably benign Het
Htr1f T A 16: 64,746,430 (GRCm39) R287S probably damaging Het
Il20ra A C 10: 19,625,018 (GRCm39) D99A probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mboat7 A G 7: 3,694,350 (GRCm39) Y34H probably damaging Het
Mid2 T C X: 139,664,418 (GRCm39) S646P probably damaging Het
Msh6 T C 17: 88,294,229 (GRCm39) S995P probably damaging Het
Mtmr10 A G 7: 63,949,350 (GRCm39) I108V probably benign Het
Muc6 G A 7: 141,226,842 (GRCm39) T1395M probably benign Het
Nlrp4f A G 13: 65,342,302 (GRCm39) F448L probably damaging Het
Odc1 C A 12: 17,598,621 (GRCm39) D220E possibly damaging Het
Or8k33 T C 2: 86,383,610 (GRCm39) N286S probably damaging Het
Pax7 A G 4: 139,555,901 (GRCm39) I189T probably damaging Het
Pcdh12 T A 18: 38,416,588 (GRCm39) H179L probably damaging Het
Pcdh15 A T 10: 74,467,694 (GRCm39) M1836L probably benign Het
Psmc5 T C 11: 106,153,836 (GRCm39) V390A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rpgrip1 A G 14: 52,368,766 (GRCm39) probably benign Het
Sema5a C T 15: 32,679,318 (GRCm39) R866C probably damaging Het
Stox2 A G 8: 47,646,647 (GRCm39) F271S probably damaging Het
Tpgs2 T C 18: 25,282,301 (GRCm39) probably null Het
Vmn1r7 T C 6: 57,001,537 (GRCm39) Y241C probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Ttll8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Ttll8 APN 15 88,798,356 (GRCm39) missense probably benign
IGL00895:Ttll8 APN 15 88,817,731 (GRCm39) missense probably damaging 1.00
IGL01061:Ttll8 APN 15 88,801,453 (GRCm39) missense possibly damaging 0.85
IGL01661:Ttll8 APN 15 88,820,202 (GRCm39) splice site probably benign
IGL01992:Ttll8 APN 15 88,799,848 (GRCm39) missense possibly damaging 0.48
IGL02212:Ttll8 APN 15 88,801,450 (GRCm39) missense probably benign 0.04
IGL02569:Ttll8 APN 15 88,818,129 (GRCm39) nonsense probably null
IGL02935:Ttll8 APN 15 88,798,759 (GRCm39) missense probably benign 0.10
IGL03064:Ttll8 APN 15 88,803,797 (GRCm39) missense probably benign 0.22
R0969:Ttll8 UTSW 15 88,818,138 (GRCm39) missense probably damaging 1.00
R1637:Ttll8 UTSW 15 88,798,647 (GRCm39) missense probably benign 0.12
R1939:Ttll8 UTSW 15 88,799,689 (GRCm39) missense probably damaging 1.00
R1992:Ttll8 UTSW 15 88,798,654 (GRCm39) missense probably benign 0.00
R2173:Ttll8 UTSW 15 88,798,800 (GRCm39) missense probably damaging 1.00
R2201:Ttll8 UTSW 15 88,818,156 (GRCm39) missense possibly damaging 0.57
R2414:Ttll8 UTSW 15 88,820,336 (GRCm39) splice site probably benign
R2905:Ttll8 UTSW 15 88,798,680 (GRCm39) missense probably benign 0.00
R4159:Ttll8 UTSW 15 88,801,444 (GRCm39) missense probably benign 0.00
R4368:Ttll8 UTSW 15 88,798,384 (GRCm39) missense possibly damaging 0.88
R4395:Ttll8 UTSW 15 88,799,783 (GRCm39) missense possibly damaging 0.80
R4707:Ttll8 UTSW 15 88,801,293 (GRCm39) missense probably damaging 0.99
R4926:Ttll8 UTSW 15 88,798,368 (GRCm39) missense probably damaging 0.98
R4983:Ttll8 UTSW 15 88,809,785 (GRCm39) missense probably benign 0.08
R5698:Ttll8 UTSW 15 88,823,209 (GRCm39) missense possibly damaging 0.85
R5752:Ttll8 UTSW 15 88,816,931 (GRCm39) missense probably benign 0.00
R5834:Ttll8 UTSW 15 88,801,449 (GRCm39) missense possibly damaging 0.48
R5889:Ttll8 UTSW 15 88,818,142 (GRCm39) missense probably damaging 1.00
R6528:Ttll8 UTSW 15 88,798,441 (GRCm39) missense probably benign 0.03
R6931:Ttll8 UTSW 15 88,798,507 (GRCm39) missense possibly damaging 0.55
R7133:Ttll8 UTSW 15 88,799,630 (GRCm39) missense probably damaging 0.99
R7268:Ttll8 UTSW 15 88,819,159 (GRCm39) critical splice donor site probably null
R7286:Ttll8 UTSW 15 88,801,442 (GRCm39) missense probably benign 0.01
R7502:Ttll8 UTSW 15 88,817,639 (GRCm39) critical splice donor site probably null
R7580:Ttll8 UTSW 15 88,818,132 (GRCm39) missense probably damaging 0.99
R7734:Ttll8 UTSW 15 88,798,368 (GRCm39) missense probably damaging 0.98
R7978:Ttll8 UTSW 15 88,799,565 (GRCm39) missense probably benign 0.09
R8074:Ttll8 UTSW 15 88,799,578 (GRCm39) missense probably damaging 1.00
R8351:Ttll8 UTSW 15 88,798,638 (GRCm39) missense probably benign 0.06
R8407:Ttll8 UTSW 15 88,798,741 (GRCm39) missense probably benign 0.01
R8901:Ttll8 UTSW 15 88,818,146 (GRCm39) missense probably benign 0.00
R9199:Ttll8 UTSW 15 88,798,818 (GRCm39) missense probably benign 0.16
R9443:Ttll8 UTSW 15 88,809,863 (GRCm39) missense possibly damaging 0.91
X0058:Ttll8 UTSW 15 88,801,333 (GRCm39) nonsense probably null
Posted On 2015-04-16