Incidental Mutation 'IGL02026:Ttll13'
ID 184152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttll13
Ensembl Gene ENSMUSG00000045467
Gene Name tubulin tyrosine ligase-like family, member 13
Synonyms 1700111A04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # IGL02026
Quality Score
Status
Chromosome 7
Chromosomal Location 79896124-79910569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79910127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 757 (S757T)
Ref Sequence ENSEMBL: ENSMUSP00000062795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058266] [ENSMUST00000117989] [ENSMUST00000205270]
AlphaFold A4Q9F6
Predicted Effect probably benign
Transcript: ENSMUST00000058266
AA Change: S757T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000062795
Gene: ENSMUSG00000045467
AA Change: S757T

DomainStartEndE-ValueType
low complexity region 9 30 N/A INTRINSIC
low complexity region 78 86 N/A INTRINSIC
Pfam:TTL 131 427 3.4e-90 PFAM
coiled coil region 504 528 N/A INTRINSIC
low complexity region 589 603 N/A INTRINSIC
low complexity region 646 657 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107381
SMART Domains Protein: ENSMUSP00000103004
Gene: ENSMUSG00000045467

DomainStartEndE-ValueType
low complexity region 9 30 N/A INTRINSIC
low complexity region 78 86 N/A INTRINSIC
Pfam:TTL 131 427 3.5e-90 PFAM
coiled coil region 504 528 N/A INTRINSIC
low complexity region 589 603 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117989
SMART Domains Protein: ENSMUSP00000113444
Gene: ENSMUSG00000047084

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
coiled coil region 46 70 N/A INTRINSIC
Pfam:Neugrin 73 293 1.2e-99 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138005
Predicted Effect probably benign
Transcript: ENSMUST00000205270
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,809,251 (GRCm39) V237E possibly damaging Het
Amh T C 10: 80,641,242 (GRCm39) L54P probably damaging Het
Aoc3 T C 11: 101,228,421 (GRCm39) S743P probably benign Het
Arhgap23 T A 11: 97,342,407 (GRCm39) W19R probably damaging Het
Atm C T 9: 53,353,717 (GRCm39) probably null Het
Ccdc47 T C 11: 106,095,853 (GRCm39) E281G probably damaging Het
Col7a1 A C 9: 108,797,097 (GRCm39) K1650N probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Evi2b T C 11: 79,406,613 (GRCm39) S321G probably damaging Het
Fancm T G 12: 65,152,508 (GRCm39) V988G probably benign Het
Gbp2 A G 3: 142,339,241 (GRCm39) Y431C probably damaging Het
Gclc T C 9: 77,699,342 (GRCm39) V530A probably benign Het
Gm5885 T C 6: 133,508,291 (GRCm39) noncoding transcript Het
Hlcs A T 16: 93,935,564 (GRCm39) I576N probably damaging Het
Hnrnpul1 A T 7: 25,444,587 (GRCm39) F240L probably damaging Het
Itgb6 C A 2: 60,458,410 (GRCm39) V448F possibly damaging Het
Lama1 A G 17: 68,116,287 (GRCm39) T2385A possibly damaging Het
Lamc2 C T 1: 153,020,482 (GRCm39) probably benign Het
Lrrc32 C T 7: 98,148,767 (GRCm39) R516C probably benign Het
Lrrtm3 T C 10: 63,924,231 (GRCm39) N312S probably damaging Het
Ltbp4 G A 7: 27,026,842 (GRCm39) R468* probably null Het
Man1a T C 10: 53,890,569 (GRCm39) E373G probably damaging Het
Myo1h A T 5: 114,461,505 (GRCm39) Q250L probably null Het
Myo9a T C 9: 59,813,245 (GRCm39) V2077A probably damaging Het
Or14j3 A G 17: 37,900,298 (GRCm39) probably benign Het
Otud5 C T X: 7,738,232 (GRCm39) probably benign Het
Pcsk1 A G 13: 75,260,772 (GRCm39) S332G probably benign Het
Pde8b A G 13: 95,170,869 (GRCm39) V549A probably damaging Het
Pgap1 A T 1: 54,533,978 (GRCm39) M645K probably benign Het
Pm20d1 A T 1: 131,729,497 (GRCm39) R175* probably null Het
Polr2b A G 5: 77,480,099 (GRCm39) N585S probably benign Het
Recql T A 6: 142,312,394 (GRCm39) K41* probably null Het
Sccpdh A T 1: 179,505,634 (GRCm39) H138L possibly damaging Het
Sec31a A T 5: 100,517,485 (GRCm39) S951T probably benign Het
Slc44a4 A T 17: 35,140,832 (GRCm39) probably benign Het
Tchhl1 G T 3: 93,377,862 (GRCm39) A189S probably damaging Het
Tdrd12 G A 7: 35,203,658 (GRCm39) probably benign Het
Tesl2 T G X: 23,824,233 (GRCm39) H314P probably damaging Het
Trbv12-1 A G 6: 41,090,928 (GRCm39) D100G probably damaging Het
Vipas39 T A 12: 87,298,483 (GRCm39) probably benign Het
Vmn1r64 G A 7: 5,886,649 (GRCm39) P298L possibly damaging Het
Vmn1r81 A G 7: 11,994,432 (GRCm39) S59P probably damaging Het
Vsx1 A T 2: 150,530,447 (GRCm39) V145D probably benign Het
Wdfy4 T A 14: 32,815,257 (GRCm39) N1586I probably damaging Het
Zan T A 5: 137,403,726 (GRCm39) probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zzef1 T A 11: 72,772,164 (GRCm39) M1707K probably benign Het
Other mutations in Ttll13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Ttll13 APN 7 79,909,297 (GRCm39) missense possibly damaging 0.73
IGL01289:Ttll13 APN 7 79,910,187 (GRCm39) missense probably benign
IGL02816:Ttll13 APN 7 79,902,842 (GRCm39) missense possibly damaging 0.91
R0345:Ttll13 UTSW 7 79,897,084 (GRCm39) missense probably benign 0.00
R0347:Ttll13 UTSW 7 79,910,253 (GRCm39) missense possibly damaging 0.73
R0491:Ttll13 UTSW 7 79,910,098 (GRCm39) missense probably benign
R1779:Ttll13 UTSW 7 79,910,256 (GRCm39) missense probably benign 0.33
R1983:Ttll13 UTSW 7 79,903,364 (GRCm39) missense possibly damaging 0.70
R2218:Ttll13 UTSW 7 79,902,250 (GRCm39) missense probably damaging 1.00
R2520:Ttll13 UTSW 7 79,899,964 (GRCm39) missense probably damaging 1.00
R4496:Ttll13 UTSW 7 79,906,667 (GRCm39) missense probably benign 0.08
R4736:Ttll13 UTSW 7 79,898,024 (GRCm39) splice site probably null
R5330:Ttll13 UTSW 7 79,910,257 (GRCm39) missense probably benign 0.33
R5930:Ttll13 UTSW 7 79,902,914 (GRCm39) missense probably damaging 1.00
R5985:Ttll13 UTSW 7 79,904,386 (GRCm39) missense probably damaging 1.00
R6060:Ttll13 UTSW 7 79,908,491 (GRCm39) missense probably damaging 1.00
R6182:Ttll13 UTSW 7 79,909,981 (GRCm39) missense probably benign 0.18
R6256:Ttll13 UTSW 7 79,908,052 (GRCm39) missense probably benign 0.00
R6501:Ttll13 UTSW 7 79,899,924 (GRCm39) missense possibly damaging 0.89
R6901:Ttll13 UTSW 7 79,899,930 (GRCm39) missense probably damaging 1.00
R7064:Ttll13 UTSW 7 79,906,778 (GRCm39) missense probably null 0.53
R7127:Ttll13 UTSW 7 79,903,406 (GRCm39) missense possibly damaging 0.53
R7217:Ttll13 UTSW 7 79,903,911 (GRCm39) missense probably damaging 1.00
R7241:Ttll13 UTSW 7 79,903,911 (GRCm39) missense probably damaging 1.00
R7243:Ttll13 UTSW 7 79,903,911 (GRCm39) missense probably damaging 1.00
R7244:Ttll13 UTSW 7 79,903,911 (GRCm39) missense probably damaging 1.00
R7246:Ttll13 UTSW 7 79,903,911 (GRCm39) missense probably damaging 1.00
R7317:Ttll13 UTSW 7 79,903,911 (GRCm39) missense probably damaging 1.00
R7340:Ttll13 UTSW 7 79,906,772 (GRCm39) missense probably damaging 0.98
R7453:Ttll13 UTSW 7 79,910,182 (GRCm39) missense probably benign
R7579:Ttll13 UTSW 7 79,907,981 (GRCm39) missense probably benign 0.00
R7810:Ttll13 UTSW 7 79,902,875 (GRCm39) missense probably damaging 1.00
R7855:Ttll13 UTSW 7 79,903,845 (GRCm39) missense probably damaging 1.00
R7860:Ttll13 UTSW 7 79,905,135 (GRCm39) missense probably benign 0.02
R8122:Ttll13 UTSW 7 79,909,217 (GRCm39) missense probably benign 0.16
R8739:Ttll13 UTSW 7 79,902,923 (GRCm39) missense probably damaging 0.98
R9124:Ttll13 UTSW 7 79,906,751 (GRCm39) missense probably damaging 1.00
R9154:Ttll13 UTSW 7 79,897,182 (GRCm39) missense probably benign
R9157:Ttll13 UTSW 7 79,904,428 (GRCm39) missense possibly damaging 0.95
R9572:Ttll13 UTSW 7 79,908,008 (GRCm39) missense probably benign 0.09
Z1189:Ttll13 UTSW 7 79,908,491 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07