Incidental Mutation 'R4534:Ttll2'
ID 333261
Institutional Source Beutler Lab
Gene Symbol Ttll2
Ensembl Gene ENSMUSG00000079722
Gene Name tubulin tyrosine ligase-like family, member 2
Synonyms EG625850
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R4534 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 7618284-7620095 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 7619120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 269 (I269N)
Ref Sequence ENSEMBL: ENSMUSP00000111413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115747] [ENSMUST00000231397]
AlphaFold A4Q9E4
Predicted Effect probably benign
Transcript: ENSMUST00000115747
AA Change: I269N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000111413
Gene: ENSMUSG00000079722
AA Change: I269N

DomainStartEndE-ValueType
Pfam:TTL 91 383 1.2e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231397
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl3 C T 4: 98,926,232 (GRCm39) T454I possibly damaging Het
Arhgef4 T C 1: 34,762,162 (GRCm39) S473P unknown Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Clstn3 C T 6: 124,436,179 (GRCm39) R190Q probably damaging Het
Dennd2b A T 7: 109,130,363 (GRCm39) S879R probably damaging Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dnaaf5 C T 5: 139,137,282 (GRCm39) Q212* probably null Het
Efcc1 A G 6: 87,730,133 (GRCm39) D482G probably null Het
Eri2 T C 7: 119,389,466 (GRCm39) T151A probably damaging Het
Exoc4 C T 6: 33,254,179 (GRCm39) R112C probably damaging Het
Fyco1 A G 9: 123,667,953 (GRCm39) V91A probably damaging Het
Gm10320 G A 13: 98,626,316 (GRCm39) P23S probably benign Het
Hbs1l A G 10: 21,217,814 (GRCm39) I240M possibly damaging Het
Heatr5b T C 17: 79,118,025 (GRCm39) H806R possibly damaging Het
Herc3 T C 6: 58,837,332 (GRCm39) V335A probably benign Het
Ifi205 G A 1: 173,845,207 (GRCm39) P192S probably benign Het
Ifna6 C A 4: 88,746,086 (GRCm39) T145K probably benign Het
Ifna6 G C 4: 88,746,099 (GRCm39) R149S probably benign Het
Ifna9 T C 4: 88,510,285 (GRCm39) H113R possibly damaging Het
Il17rd T C 14: 26,818,019 (GRCm39) F236S probably damaging Het
Incenp T C 19: 9,861,303 (GRCm39) N450S unknown Het
Jmjd8 C T 17: 26,047,984 (GRCm39) probably null Het
Lhx3 C T 2: 26,094,026 (GRCm39) V66I probably benign Het
Nt5c2 C T 19: 46,880,100 (GRCm39) C336Y probably damaging Het
Ntrk2 G A 13: 59,274,343 (GRCm39) V740I probably damaging Het
Ocln A T 13: 100,648,112 (GRCm39) I104N possibly damaging Het
Or14j8 T C 17: 38,263,613 (GRCm39) I101V probably benign Het
Or8g54 G T 9: 39,707,296 (GRCm39) L208F probably benign Het
Ppp1r3c T C 19: 36,711,522 (GRCm39) K83E probably damaging Het
Sh3glb1 T A 3: 144,405,624 (GRCm39) E77D possibly damaging Het
Slc38a3 T C 9: 107,533,405 (GRCm39) N251S probably benign Het
Spopfm2 T C 3: 94,083,757 (GRCm39) Y18C probably benign Het
Stox2 A T 8: 47,646,414 (GRCm39) S287T probably damaging Het
Sycp2 C A 2: 177,996,802 (GRCm39) V1134F probably damaging Het
Tenm2 C T 11: 35,953,931 (GRCm39) S1260N possibly damaging Het
Tfpi2 T C 6: 3,968,044 (GRCm39) N32S possibly damaging Het
Thoc5 C T 11: 4,874,807 (GRCm39) R533* probably null Het
Uchl5 C T 1: 143,661,954 (GRCm39) T76I probably benign Het
Vmn2r102 A G 17: 19,914,975 (GRCm39) T847A probably benign Het
Xpa T C 4: 46,185,624 (GRCm39) N118S probably benign Het
Xrcc3 A G 12: 111,770,966 (GRCm39) L321P probably damaging Het
Xylt2 T C 11: 94,557,176 (GRCm39) D105G probably benign Het
Other mutations in Ttll2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02071:Ttll2 APN 17 7,619,130 (GRCm39) missense probably damaging 1.00
IGL03190:Ttll2 APN 17 7,618,779 (GRCm39) missense probably benign 0.05
R1922:Ttll2 UTSW 17 7,619,789 (GRCm39) missense probably damaging 0.99
R2237:Ttll2 UTSW 17 7,619,522 (GRCm39) missense probably benign 0.03
R2892:Ttll2 UTSW 17 7,620,098 (GRCm39) splice site probably null
R4388:Ttll2 UTSW 17 7,618,599 (GRCm39) nonsense probably null
R4389:Ttll2 UTSW 17 7,618,599 (GRCm39) nonsense probably null
R4535:Ttll2 UTSW 17 7,619,120 (GRCm39) missense probably benign 0.02
R4536:Ttll2 UTSW 17 7,619,120 (GRCm39) missense probably benign 0.02
R4868:Ttll2 UTSW 17 7,618,998 (GRCm39) missense probably benign 0.07
R4870:Ttll2 UTSW 17 7,618,998 (GRCm39) missense probably benign 0.07
R4871:Ttll2 UTSW 17 7,618,998 (GRCm39) missense probably benign 0.07
R5990:Ttll2 UTSW 17 7,619,766 (GRCm39) missense possibly damaging 0.95
R6145:Ttll2 UTSW 17 7,619,031 (GRCm39) missense probably benign 0.08
R6332:Ttll2 UTSW 17 7,619,167 (GRCm39) missense probably damaging 1.00
R7893:Ttll2 UTSW 17 7,619,490 (GRCm39) missense probably benign 0.15
R8250:Ttll2 UTSW 17 7,618,767 (GRCm39) missense probably benign 0.00
R8673:Ttll2 UTSW 17 7,619,340 (GRCm39) missense possibly damaging 0.81
R9036:Ttll2 UTSW 17 7,619,054 (GRCm39) missense probably benign 0.01
R9429:Ttll2 UTSW 17 7,620,085 (GRCm39) missense probably damaging 1.00
R9455:Ttll2 UTSW 17 7,619,692 (GRCm39) missense probably damaging 1.00
R9773:Ttll2 UTSW 17 7,618,676 (GRCm39) missense probably benign 0.17
R9784:Ttll2 UTSW 17 7,618,707 (GRCm39) missense probably benign 0.01
RF010:Ttll2 UTSW 17 7,618,737 (GRCm39) missense probably benign 0.05
Z1088:Ttll2 UTSW 17 7,618,925 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCACGGTTTCAGGTTATCATC -3'
(R):5'- TAGGTACAAATGCGACCTCCG -3'

Sequencing Primer
(F):5'- CGGTTTCAGGTTATCATCAATAAGG -3'
(R):5'- GCATCTATGTCTGCATCACTGG -3'
Posted On 2015-08-18