Incidental Mutation 'R2290:Ttl'
ID 244243
Institutional Source Beutler Lab
Gene Symbol Ttl
Ensembl Gene ENSMUSG00000027394
Gene Name tubulin tyrosine ligase
Synonyms 2700049H19Rik, 2410003M22Rik
MMRRC Submission 040289-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2290 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 128907867-128938203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 128923190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 177 (G177D)
Ref Sequence ENSEMBL: ENSMUSP00000046883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035812]
AlphaFold P38585
Predicted Effect possibly damaging
Transcript: ENSMUST00000035812
AA Change: G177D

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000046883
Gene: ENSMUSG00000027394
AA Change: G177D

Pfam:TTL 54 367 1.2e-72 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000144120
AA Change: G35D
SMART Domains Protein: ENSMUSP00000117506
Gene: ENSMUSG00000027394
AA Change: G35D

Pfam:TTL 1 199 2.3e-64 PFAM
Meta Mutation Damage Score 0.0896 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (73/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality, impaired breathing, and fail to form the internal capsule in the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 T C 10: 83,363,177 (GRCm39) D62G probably damaging Het
Ambp T C 4: 63,061,924 (GRCm39) Y335C probably damaging Het
Arid4a G T 12: 71,108,315 (GRCm39) G40V probably damaging Het
Asb13 G A 13: 3,699,418 (GRCm39) G206D probably damaging Het
Ccdc7b A G 8: 129,857,587 (GRCm39) probably benign Het
Cdh15 A T 8: 123,586,056 (GRCm39) N145I probably damaging Het
Celsr3 T C 9: 108,720,423 (GRCm39) I2565T probably damaging Het
Cfap43 A T 19: 47,761,574 (GRCm39) M840K probably damaging Het
Clip4 T C 17: 72,117,948 (GRCm39) V331A possibly damaging Het
Cnnm1 A G 19: 43,479,941 (GRCm39) T829A probably benign Het
Col24a1 G A 3: 145,218,950 (GRCm39) G1457E probably damaging Het
D6Ertd527e A G 6: 87,088,527 (GRCm39) N230S unknown Het
Dll1 T C 17: 15,595,010 (GRCm39) D89G probably benign Het
Dst T A 1: 34,268,281 (GRCm39) V2901E probably damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Efl1 A T 7: 82,426,878 (GRCm39) K1125N probably damaging Het
Efr3a T A 15: 65,721,688 (GRCm39) F437L probably benign Het
Eqtn GTTCTTCTTC GTTCTTC 4: 94,815,179 (GRCm39) probably benign Het
Ermp1 T C 19: 29,601,178 (GRCm39) D523G probably damaging Het
Gm38999 A G 7: 43,077,123 (GRCm39) E5G probably benign Het
Gm5828 C T 1: 16,838,568 (GRCm39) noncoding transcript Het
Gnas T C 2: 174,141,803 (GRCm39) F717L probably benign Het
H6pd T A 4: 150,066,338 (GRCm39) S683C probably damaging Het
Il23r G A 6: 67,400,845 (GRCm39) T495I probably benign Het
Itpr2 T C 6: 146,324,326 (GRCm39) N135D probably damaging Het
Kcns2 T A 15: 34,838,655 (GRCm39) L6Q possibly damaging Het
Khdrbs3 C T 15: 68,901,610 (GRCm39) R132C probably damaging Het
Kif2b A G 11: 91,466,522 (GRCm39) V587A probably benign Het
Kng1 A T 16: 22,897,875 (GRCm39) H425L possibly damaging Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lrrc8e T C 8: 4,281,770 (GRCm39) M35T probably damaging Het
Med12l A G 3: 59,152,359 (GRCm39) N1048S probably damaging Het
Mex3c A C 18: 73,723,764 (GRCm39) N619T probably damaging Het
Mfsd4b1 G A 10: 39,879,327 (GRCm39) T190I probably damaging Het
Ncam1 A G 9: 49,434,951 (GRCm39) probably benign Het
Nlrp6 G A 7: 140,502,076 (GRCm39) G133S probably damaging Het
Oplah A G 15: 76,186,925 (GRCm39) V630A probably benign Het
Or1e26 G T 11: 73,479,745 (GRCm39) A273D probably benign Het
Or2y1 A G 11: 49,385,857 (GRCm39) M166V probably benign Het
Or5ak24 C T 2: 85,260,544 (GRCm39) V210M possibly damaging Het
Or8g36 A G 9: 39,422,974 (GRCm39) L14P possibly damaging Het
Pcnx2 A T 8: 126,604,334 (GRCm39) probably benign Het
Pkhd1l1 A T 15: 44,391,646 (GRCm39) T1571S probably benign Het
Pramel13 T A 4: 144,121,269 (GRCm39) T252S probably benign Het
Pramel13 G T 4: 144,121,692 (GRCm39) H111N probably benign Het
Prr22 T G 17: 57,078,884 (GRCm39) F346V probably benign Het
Prr30 T C 14: 101,436,211 (GRCm39) N117S possibly damaging Het
Ptgfrn A G 3: 100,984,677 (GRCm39) S172P possibly damaging Het
Ptprc C T 1: 138,038,926 (GRCm39) V364I probably benign Het
Ptprz1 T C 6: 23,000,990 (GRCm39) S1027P probably damaging Het
Rinl T C 7: 28,491,696 (GRCm39) V83A probably benign Het
Ros1 A T 10: 51,994,477 (GRCm39) S1268T probably damaging Het
Scly T C 1: 91,226,172 (GRCm39) probably null Het
Slc25a1 C T 16: 17,743,712 (GRCm39) V186M possibly damaging Het
Stk36 T G 1: 74,665,303 (GRCm39) probably benign Het
Syn2 A G 6: 115,251,190 (GRCm39) T449A possibly damaging Het
Tecpr1 T C 5: 144,150,881 (GRCm39) D309G probably damaging Het
Tent4b T C 8: 88,978,603 (GRCm39) S435P probably damaging Het
Tns2 T A 15: 102,020,458 (GRCm39) Y775N probably damaging Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Twf1 A G 15: 94,484,400 (GRCm39) S41P probably damaging Het
Unc79 C T 12: 103,112,625 (GRCm39) T2174M probably damaging Het
Vangl2 T A 1: 171,836,113 (GRCm39) K340* probably null Het
Vmn2r72 T A 7: 85,387,549 (GRCm39) T672S probably damaging Het
Vwa7 A G 17: 35,236,187 (GRCm39) D47G probably damaging Het
Zc3h12d A G 10: 7,743,223 (GRCm39) H331R probably benign Het
Zfa-ps T C 10: 52,421,112 (GRCm39) noncoding transcript Het
Zfp141 A T 7: 42,124,649 (GRCm39) C608S probably damaging Het
Zfp422 A G 6: 116,603,603 (GRCm39) I132T possibly damaging Het
Zfp652 A G 11: 95,640,849 (GRCm39) Y258C possibly damaging Het
Other mutations in Ttl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02742:Ttl APN 2 128,908,213 (GRCm39) missense possibly damaging 0.50
IGL02970:Ttl APN 2 128,917,990 (GRCm39) missense probably damaging 1.00
R0363:Ttl UTSW 2 128,917,981 (GRCm39) missense probably damaging 0.99
R3818:Ttl UTSW 2 128,934,914 (GRCm39) missense probably damaging 1.00
R4345:Ttl UTSW 2 128,917,778 (GRCm39) missense probably damaging 1.00
R4471:Ttl UTSW 2 128,923,977 (GRCm39) missense probably benign
R4866:Ttl UTSW 2 128,923,147 (GRCm39) missense probably damaging 1.00
R5269:Ttl UTSW 2 128,910,831 (GRCm39) missense probably damaging 1.00
R5913:Ttl UTSW 2 128,917,961 (GRCm39) missense probably benign
R5941:Ttl UTSW 2 128,917,904 (GRCm39) missense probably benign 0.00
R6287:Ttl UTSW 2 128,931,041 (GRCm39) missense probably damaging 1.00
R6643:Ttl UTSW 2 128,923,262 (GRCm39) missense possibly damaging 0.72
R6821:Ttl UTSW 2 128,910,835 (GRCm39) missense probably damaging 1.00
R6883:Ttl UTSW 2 128,923,992 (GRCm39) missense possibly damaging 0.81
R8273:Ttl UTSW 2 128,910,853 (GRCm39) missense probably benign 0.05
R8354:Ttl UTSW 2 128,908,104 (GRCm39) missense probably damaging 1.00
R8403:Ttl UTSW 2 128,923,163 (GRCm39) missense possibly damaging 0.87
R8454:Ttl UTSW 2 128,908,104 (GRCm39) missense probably damaging 1.00
R8817:Ttl UTSW 2 128,910,778 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-30