Incidental Mutation 'R6256:Ttll13'
ID 506114
Institutional Source Beutler Lab
Gene Symbol Ttll13
Ensembl Gene ENSMUSG00000045467
Gene Name tubulin tyrosine ligase-like family, member 13
Synonyms 1700111A04Rik
MMRRC Submission 044373-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R6256 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 79896124-79910569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79908052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 556 (T556A)
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: T556A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062795
Gene: ENSMUSG00000045467
AA Change: T556A

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
AA Change: T525A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 73,205,272 (GRCm39) Q361L probably damaging Het
Abca7 A G 10: 79,838,456 (GRCm39) T577A probably damaging Het
Acad12 A T 5: 121,752,149 (GRCm39) V54E probably benign Het
Ago4 A G 4: 126,414,019 (GRCm39) Y91H probably damaging Het
Akr1b10 T C 6: 34,364,623 (GRCm39) V28A probably damaging Het
Ccdc33 T A 9: 58,009,201 (GRCm39) probably null Het
Ccdc7a T C 8: 129,662,074 (GRCm39) probably null Het
Ces1f A T 8: 93,992,422 (GRCm39) V343E probably damaging Het
Cftr T C 6: 18,274,660 (GRCm39) L896P probably damaging Het
Csmd3 G A 15: 47,533,125 (GRCm39) P2375S probably damaging Het
Dnajb14 C T 3: 137,614,124 (GRCm39) A345V probably damaging Het
Dnajb14 G C 3: 137,614,123 (GRCm39) A345P probably damaging Het
Dnase1 G A 16: 3,855,485 (GRCm39) R24K probably benign Het
Dnmbp C T 19: 43,840,720 (GRCm39) V560M probably damaging Het
Dop1b T A 16: 93,604,102 (GRCm39) I1981N possibly damaging Het
Eif3a A C 19: 60,759,464 (GRCm39) S770A possibly damaging Het
Fbxl7 A T 15: 26,553,088 (GRCm39) C60S probably benign Het
Fras1 A T 5: 96,881,702 (GRCm39) D2478V possibly damaging Het
Hrnr A G 3: 93,229,918 (GRCm39) D52G probably damaging Het
Jmjd1c T A 10: 67,056,187 (GRCm39) L823M probably damaging Het
Kdm1a G T 4: 136,295,911 (GRCm39) C172* probably null Het
Kdm6b C T 11: 69,297,555 (GRCm39) E295K probably damaging Het
Mepe A T 5: 104,484,940 (GRCm39) M27L probably benign Het
Mogat2 A T 7: 98,869,102 (GRCm39) H305Q probably damaging Het
Mst1r T A 9: 107,794,465 (GRCm39) Y1215N probably damaging Het
Muc5ac A T 7: 141,343,532 (GRCm39) H48L possibly damaging Het
Myo7b T C 18: 32,116,748 (GRCm39) D953G probably damaging Het
Ocel1 T C 8: 71,824,472 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,468,978 (GRCm39) D633G probably damaging Het
Ppm1l A G 3: 69,405,230 (GRCm39) I176V probably benign Het
Sall3 C T 18: 81,013,076 (GRCm39) R1120H possibly damaging Het
Sbf1 G A 15: 89,185,070 (GRCm39) P1018S probably benign Het
Setbp1 T C 18: 78,900,472 (GRCm39) Y1065C probably damaging Het
Slc25a2 T C 18: 37,770,776 (GRCm39) probably null Het
Slc4a2 C A 5: 24,640,888 (GRCm39) T729K probably damaging Het
Sptlc2 T C 12: 87,402,305 (GRCm39) E207G probably damaging Het
Sult6b1 A T 17: 79,214,343 (GRCm39) F27I probably benign Het
Syf2 A T 4: 134,661,889 (GRCm39) K84N probably damaging Het
Tmem209 A T 6: 30,497,166 (GRCm39) N183K probably benign Het
Tmem232 G T 17: 65,785,397 (GRCm39) Q188K possibly damaging Het
Tomm70a A T 16: 56,973,055 (GRCm39) T598S probably benign Het
Vmn2r120 A T 17: 57,831,700 (GRCm39) L363* probably null Het
Xpo6 G T 7: 125,707,791 (GRCm39) Q872K probably damaging Het
Xrra1 A C 7: 99,563,671 (GRCm39) S553R probably damaging Het
Zfy1 A T Y: 738,765 (GRCm39) V147E unknown Homo
Zfy2 T C Y: 2,116,267 (GRCm39) I258V probably benign Homo
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
IGL02026:Ttll13 APN 7 79,910,127 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- AATTCCAGCAACACCAGGTG -3'
(R):5'- CTTCTGTTCCAAAAGGTCAGATCC -3'

Sequencing Primer
(F):5'- ACACCAGGTGTTCCTTTCATTAG -3'
(R):5'- GTTCCAAAAGGTCAGATCCAATTTAC -3'
Posted On 2018-02-28