Incidental Mutation 'R8250:Ttll2'
ID640299
Institutional Source Beutler Lab
Gene Symbol Ttll2
Ensembl Gene ENSMUSG00000079722
Gene Nametubulin tyrosine ligase-like family, member 2
SynonymsEG625850
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #R8250 (G1)
Quality Score225.009
Status Not validated
Chromosome17
Chromosomal Location7350885-7352696 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 7351368 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 387 (T387A)
Ref Sequence ENSEMBL: ENSMUSP00000111413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115747]
Predicted Effect probably benign
Transcript: ENSMUST00000115747
AA Change: T387A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000111413
Gene: ENSMUSG00000079722
AA Change: T387A

DomainStartEndE-ValueType
Pfam:TTL 91 383 1.2e-82 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,917,662 S515P probably damaging Het
Adamtsl1 A T 4: 86,342,609 E1027V probably damaging Het
Adrbk1 A G 19: 4,289,934 F375S probably damaging Het
Agbl2 G A 2: 90,797,564 G238R probably damaging Het
Ccdc27 A T 4: 154,041,788 D81E unknown Het
Csrnp3 A G 2: 66,022,218 E330G probably damaging Het
Dcp1a A G 14: 30,522,926 T570A possibly damaging Het
Fat1 A G 8: 44,953,299 N1029S probably damaging Het
Ftcd T G 10: 76,581,627 I300R probably damaging Het
Fxr1 T A 3: 34,047,029 Y161* probably null Het
Gabrg2 C T 11: 41,967,552 V250I probably benign Het
Gmcl1 T C 6: 86,721,402 D171G possibly damaging Het
Kat2b T A 17: 53,663,536 I650N probably damaging Het
Lhfp T C 3: 53,043,338 I11T probably benign Het
Mbtd1 A G 11: 93,910,350 Y141C probably damaging Het
Mon1b A T 8: 113,639,719 E449V probably damaging Het
Mrpl47 T C 3: 32,731,233 N112S probably damaging Het
Myo9a T A 9: 59,860,109 H865Q probably damaging Het
Notch3 T C 17: 32,132,336 N1895S probably damaging Het
Nuggc A G 14: 65,641,869 I693V probably benign Het
Oip5 A G 2: 119,615,629 S133P probably benign Het
Olfr1051 T C 2: 86,276,154 E111G probably damaging Het
Olfr1420 A T 19: 11,896,377 M119L probably damaging Het
Olfr685 T C 7: 105,181,311 M16V Het
Opcml A G 9: 28,675,270 I95V probably damaging Het
P2rx3 A C 2: 85,022,391 V221G probably damaging Het
Prr27 A G 5: 87,842,697 N56S possibly damaging Het
Psmd11 T C 11: 80,445,926 S135P possibly damaging Het
Rftn1 G T 17: 50,047,380 A318D probably damaging Het
Sall3 T C 18: 80,973,528 D395G probably benign Het
Scube2 T C 7: 109,864,170 N62S probably benign Het
Sema6a A T 18: 47,290,115 S275T probably damaging Het
Sirpb1a A T 3: 15,379,044 L382Q possibly damaging Het
Snrpn T A 7: 59,986,885 probably null Het
Sox5 A T 6: 144,155,051 S71T possibly damaging Het
Synpo2l G T 14: 20,662,276 T321K probably benign Het
Tex15 G A 8: 33,565,205 E285K probably null Het
Tmem126b G A 7: 90,469,109 L188F probably damaging Het
Ttn A G 2: 76,836,811 Y11484H unknown Het
Vmn2r76 T A 7: 86,226,023 Y582F possibly damaging Het
Zfp786 A T 6: 47,820,795 L403Q possibly damaging Het
Other mutations in Ttll2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02071:Ttll2 APN 17 7351731 missense probably damaging 1.00
IGL03190:Ttll2 APN 17 7351380 missense probably benign 0.05
R1922:Ttll2 UTSW 17 7352390 missense probably damaging 0.99
R2237:Ttll2 UTSW 17 7352123 missense probably benign 0.03
R2892:Ttll2 UTSW 17 7352699 splice site probably null
R4388:Ttll2 UTSW 17 7351200 nonsense probably null
R4389:Ttll2 UTSW 17 7351200 nonsense probably null
R4534:Ttll2 UTSW 17 7351721 missense probably benign 0.02
R4535:Ttll2 UTSW 17 7351721 missense probably benign 0.02
R4536:Ttll2 UTSW 17 7351721 missense probably benign 0.02
R4868:Ttll2 UTSW 17 7351599 missense probably benign 0.07
R4870:Ttll2 UTSW 17 7351599 missense probably benign 0.07
R4871:Ttll2 UTSW 17 7351599 missense probably benign 0.07
R5990:Ttll2 UTSW 17 7352367 missense possibly damaging 0.95
R6145:Ttll2 UTSW 17 7351632 missense probably benign 0.08
R6332:Ttll2 UTSW 17 7351768 missense probably damaging 1.00
R7893:Ttll2 UTSW 17 7352091 missense probably benign 0.15
R8673:Ttll2 UTSW 17 7351941 missense possibly damaging 0.81
RF010:Ttll2 UTSW 17 7351338 missense probably benign 0.05
Z1088:Ttll2 UTSW 17 7351526 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGTCAGAAGTCTGTCCCGC -3'
(R):5'- GTCACCTACAACTGCTTCGAG -3'

Sequencing Primer
(F):5'- CTCATCATTTCTCTCAACTGGGAGG -3'
(R):5'- ACAACTGCTTCGAGCTTTTTGG -3'
Posted On2020-07-28