Incidental Mutation 'IGL02475:Ttll12'
ID 294902
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttll12
Ensembl Gene ENSMUSG00000016757
Gene Name tubulin tyrosine ligase-like family, member 12
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02475
Quality Score
Status
Chromosome 15
Chromosomal Location 83459295-83479358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83471302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 222 (W222R)
Ref Sequence ENSEMBL: ENSMUSP00000016901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016901] [ENSMUST00000136066]
AlphaFold Q3UDE2
Predicted Effect probably damaging
Transcript: ENSMUST00000016901
AA Change: W222R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757
AA Change: W222R

DomainStartEndE-ValueType
low complexity region 66 83 N/A INTRINSIC
Pfam:TTL 341 637 7.4e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134334
Predicted Effect unknown
Transcript: ENSMUST00000136066
AA Change: V165E
SMART Domains Protein: ENSMUSP00000117161
Gene: ENSMUSG00000016757
AA Change: V165E

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
low complexity region 66 79 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,119,343 (GRCm39) probably benign Het
5730409E04Rik A G 4: 126,505,742 (GRCm39) E90G probably damaging Het
Abhd6 T A 14: 8,039,849 (GRCm38) I27N probably damaging Het
Akap6 A T 12: 53,186,277 (GRCm39) E1230D probably benign Het
Bcl2l12 A G 7: 44,646,317 (GRCm39) V31A possibly damaging Het
Cep350 G A 1: 155,738,341 (GRCm39) R2501W probably damaging Het
Cnga3 A G 1: 37,297,072 (GRCm39) probably null Het
Crcp T C 5: 130,088,699 (GRCm39) probably benign Het
Creb5 G A 6: 53,670,909 (GRCm39) S304N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnah5 A G 15: 28,219,296 (GRCm39) D38G probably benign Het
Fam171a1 A G 2: 3,224,527 (GRCm39) I293V possibly damaging Het
Fbxw10 T C 11: 62,748,561 (GRCm39) V396A possibly damaging Het
Gm10340 G A 14: 14,832,274 (GRCm39) probably benign Het
Grik3 A G 4: 125,544,310 (GRCm39) T344A probably benign Het
Itga7 T C 10: 128,769,958 (GRCm39) F34S probably damaging Het
Musk T C 4: 58,353,936 (GRCm39) probably benign Het
Neb G T 2: 52,182,831 (GRCm39) N1038K probably damaging Het
Nf1 T C 11: 79,426,493 (GRCm39) Y1636H probably damaging Het
Ngef G T 1: 87,406,872 (GRCm39) T632K possibly damaging Het
Nme1nme2 A G 11: 93,846,400 (GRCm39) V16A probably damaging Het
Nts A G 10: 102,326,108 (GRCm39) probably benign Het
Olfml2b A G 1: 170,509,743 (GRCm39) D697G probably damaging Het
Or5ac23 A T 16: 59,149,088 (GRCm39) H261Q probably benign Het
Or5m8 T C 2: 85,822,376 (GRCm39) F72L probably benign Het
Or9i1 T A 19: 13,839,663 (GRCm39) C169S probably damaging Het
Otof T C 5: 30,534,026 (GRCm39) R1428G probably damaging Het
Pgghg T C 7: 140,525,633 (GRCm39) S479P Het
Rnaseh2b T A 14: 62,584,064 (GRCm39) F37I probably damaging Het
Rtn4 T A 11: 29,683,801 (GRCm39) I1031N probably damaging Het
Rxfp2 A G 5: 149,987,151 (GRCm39) E344G probably benign Het
Scel A G 14: 103,774,444 (GRCm39) R89G possibly damaging Het
Sirt4 T C 5: 115,621,055 (GRCm39) E39G probably benign Het
Slc6a12 T A 6: 121,331,334 (GRCm39) probably null Het
Snapc3 C A 4: 83,368,333 (GRCm39) H277N probably benign Het
Susd2 A G 10: 75,473,333 (GRCm39) probably null Het
Tagap1 T C 17: 7,223,826 (GRCm39) Q290R probably benign Het
Tenm3 A T 8: 48,732,233 (GRCm39) probably benign Het
Tmem54 A T 4: 129,002,073 (GRCm39) H40L probably damaging Het
Tnks1bp1 T C 2: 84,889,721 (GRCm39) S683P probably damaging Het
Tnpo2 A G 8: 85,777,131 (GRCm39) D547G probably benign Het
Tpd52l2 G A 2: 181,141,667 (GRCm39) V17M probably benign Het
Trip11 T A 12: 101,861,942 (GRCm39) T208S probably benign Het
Ttc17 C A 2: 94,194,721 (GRCm39) D551Y probably damaging Het
Xkr8 A T 4: 132,455,512 (GRCm39) I287N probably damaging Het
Zdhhc2 G T 8: 40,926,066 (GRCm39) G354C probably null Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Ttll12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Ttll12 APN 15 83,462,857 (GRCm39) missense probably benign 0.15
IGL00942:Ttll12 APN 15 83,466,649 (GRCm39) missense possibly damaging 0.65
IGL01746:Ttll12 APN 15 83,462,877 (GRCm39) missense probably damaging 1.00
IGL02102:Ttll12 APN 15 83,466,264 (GRCm39) missense probably damaging 1.00
IGL02484:Ttll12 APN 15 83,465,897 (GRCm39) missense possibly damaging 0.94
R0403:Ttll12 UTSW 15 83,464,859 (GRCm39) splice site probably benign
R1477:Ttll12 UTSW 15 83,464,303 (GRCm39) missense probably damaging 1.00
R1530:Ttll12 UTSW 15 83,472,856 (GRCm39) missense probably damaging 1.00
R1925:Ttll12 UTSW 15 83,465,976 (GRCm39) missense probably benign 0.06
R3508:Ttll12 UTSW 15 83,464,831 (GRCm39) missense probably damaging 0.98
R3972:Ttll12 UTSW 15 83,466,297 (GRCm39) missense probably damaging 1.00
R4198:Ttll12 UTSW 15 83,461,214 (GRCm39) missense probably damaging 1.00
R4200:Ttll12 UTSW 15 83,461,214 (GRCm39) missense probably damaging 1.00
R4357:Ttll12 UTSW 15 83,465,958 (GRCm39) missense probably damaging 1.00
R4740:Ttll12 UTSW 15 83,464,321 (GRCm39) missense probably damaging 1.00
R5024:Ttll12 UTSW 15 83,471,314 (GRCm39) missense probably damaging 1.00
R5870:Ttll12 UTSW 15 83,461,237 (GRCm39) missense probably damaging 0.97
R6824:Ttll12 UTSW 15 83,475,578 (GRCm39) critical splice donor site probably null
R7034:Ttll12 UTSW 15 83,471,086 (GRCm39) missense probably benign
R7036:Ttll12 UTSW 15 83,471,086 (GRCm39) missense probably benign
R7447:Ttll12 UTSW 15 83,471,176 (GRCm39) missense probably damaging 1.00
R8496:Ttll12 UTSW 15 83,462,010 (GRCm39) missense probably damaging 1.00
R8721:Ttll12 UTSW 15 83,464,784 (GRCm39) missense probably damaging 1.00
R8841:Ttll12 UTSW 15 83,465,993 (GRCm39) splice site probably benign
R9199:Ttll12 UTSW 15 83,466,559 (GRCm39) missense probably damaging 0.99
R9202:Ttll12 UTSW 15 83,466,264 (GRCm39) missense probably damaging 1.00
Z1088:Ttll12 UTSW 15 83,466,279 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16