Incidental Mutation 'R5913:Ttl'
ID 461094
Institutional Source Beutler Lab
Gene Symbol Ttl
Ensembl Gene ENSMUSG00000027394
Gene Name tubulin tyrosine ligase
Synonyms 2700049H19Rik, 2410003M22Rik
MMRRC Submission 044110-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5913 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 128907867-128938203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128917961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 141 (D141G)
Ref Sequence ENSEMBL: ENSMUSP00000046883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035812]
AlphaFold P38585
Predicted Effect probably benign
Transcript: ENSMUST00000035812
AA Change: D141G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046883
Gene: ENSMUSG00000027394
AA Change: D141G

Pfam:TTL 54 367 1.2e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144120
SMART Domains Protein: ENSMUSP00000117506
Gene: ENSMUSG00000027394

Pfam:TTL 1 199 2.3e-64 PFAM
Meta Mutation Damage Score 0.0736 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency 97% (75/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2cl A T 9: 110,718,773 (GRCm39) probably null Het
Arhgef19 A T 4: 140,976,609 (GRCm39) H457L probably benign Het
Armc3 A G 2: 19,314,858 (GRCm39) Y856C possibly damaging Het
Bdp1 A T 13: 100,187,612 (GRCm39) V1585D probably benign Het
Bhlhe40 T G 6: 108,642,154 (GRCm39) M366R possibly damaging Het
Bora C T 14: 99,305,948 (GRCm39) S439L probably benign Het
Cacnb4 G A 2: 52,324,796 (GRCm39) probably benign Het
Carm1 T C 9: 21,498,848 (GRCm39) S529P probably benign Het
Cd200r1 A G 16: 44,610,034 (GRCm39) I84M possibly damaging Het
Cd209a A G 8: 3,798,742 (GRCm39) S22P probably benign Het
Celf2 A T 2: 7,085,969 (GRCm39) M1K probably null Het
Cep112 A G 11: 108,648,514 (GRCm39) T783A probably damaging Het
Cep95 T C 11: 106,709,335 (GRCm39) probably benign Het
Clip4 G A 17: 72,131,760 (GRCm39) R366K probably benign Het
Csmd2 A G 4: 128,445,781 (GRCm39) K3284E probably benign Het
Csn3 T A 5: 88,075,470 (GRCm39) L12Q probably damaging Het
Ctdnep1 T C 11: 69,879,691 (GRCm39) L39P probably damaging Het
Cxcl17 C T 7: 25,101,671 (GRCm39) W55* probably null Het
Cyp2u1 G A 3: 131,096,860 (GRCm39) probably benign Het
Dmgdh A T 13: 93,888,831 (GRCm39) E823V possibly damaging Het
Dnah2 T C 11: 69,339,256 (GRCm39) I3078V probably damaging Het
Dpp10 A C 1: 123,312,018 (GRCm39) Y446D probably damaging Het
Eif2s3y T C Y: 1,017,365 (GRCm39) V290A probably benign Homo
Fktn G A 4: 53,735,035 (GRCm39) W224* probably null Het
Gm37240 T C 3: 84,874,905 (GRCm39) probably benign Het
Gpr3 A G 4: 132,938,489 (GRCm39) V61A probably damaging Het
Gulo T C 14: 66,237,470 (GRCm39) probably null Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hectd4 T A 5: 121,462,037 (GRCm39) I968K possibly damaging Het
Hmox2 G T 16: 4,582,732 (GRCm39) R155L probably damaging Het
Ifnlr1 C A 4: 135,432,580 (GRCm39) Q339K probably damaging Het
Ifnlr1 A T 4: 135,432,581 (GRCm39) Q339L probably damaging Het
Irf4 T A 13: 30,941,741 (GRCm39) S365T probably benign Het
Klrb1a T G 6: 128,595,472 (GRCm39) D124A probably damaging Het
Macf1 A T 4: 123,369,832 (GRCm39) I78N probably damaging Het
Mctp1 G T 13: 76,907,944 (GRCm39) probably null Het
Muc21 C T 17: 35,934,123 (GRCm39) probably benign Het
Mxra8 A T 4: 155,927,760 (GRCm39) probably null Het
Nlrp2 T A 7: 5,327,902 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
P2ry13 T C 3: 59,116,786 (GRCm39) T331A probably benign Het
Padi2 G A 4: 140,644,952 (GRCm39) R62H probably benign Het
Pcdhb15 A T 18: 37,607,707 (GRCm39) Q313L probably benign Het
Pcdhga11 A G 18: 37,889,045 (GRCm39) I18V probably benign Het
Pcdhga11 A G 18: 37,891,142 (GRCm39) R717G probably benign Het
Pcif1 C A 2: 164,726,412 (GRCm39) probably benign Het
Pkd1l1 T C 11: 8,813,849 (GRCm39) T1501A probably benign Het
Plekhg2 C A 7: 28,064,027 (GRCm39) R473L probably damaging Het
Plekhn1 T C 4: 156,307,152 (GRCm39) Y466C probably damaging Het
Sec22c A G 9: 121,519,368 (GRCm39) S83P possibly damaging Het
Sgcz T A 8: 37,993,425 (GRCm39) Q224L possibly damaging Het
Slc27a1 C T 8: 72,036,907 (GRCm39) P381L probably benign Het
Slc8a1 T A 17: 81,955,431 (GRCm39) I536F probably damaging Het
Src T A 2: 157,307,950 (GRCm39) probably null Het
Sybu T A 15: 44,651,017 (GRCm39) T96S probably damaging Het
Tbc1d22a T C 15: 86,235,929 (GRCm39) Y363H probably damaging Het
Tdrd6 T C 17: 43,939,302 (GRCm39) E582G possibly damaging Het
Tmem131 C A 1: 36,858,209 (GRCm39) V713L probably benign Het
Tnfsf13b T A 8: 10,056,988 (GRCm39) L49Q probably damaging Het
Trem2 T A 17: 48,653,661 (GRCm39) probably benign Het
Tspyl3 T A 2: 153,066,636 (GRCm39) M201L probably benign Het
Ube2z A G 11: 95,951,889 (GRCm39) V153A possibly damaging Het
Ubr3 A G 2: 69,851,559 (GRCm39) Y1842C probably damaging Het
Usp33 T C 3: 152,086,229 (GRCm39) V656A probably damaging Het
Vmn2r74 G A 7: 85,601,098 (GRCm39) R847C probably damaging Het
Vmo1 A T 11: 70,405,241 (GRCm39) V63D probably damaging Het
Zcwpw1 T A 5: 137,798,269 (GRCm39) D155E probably benign Het
Zeb1 T G 18: 5,766,765 (GRCm39) S425R 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
R2290:Ttl UTSW 2 128,923,190 (GRCm39) missense possibly damaging 0.69
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
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 2017-02-28