Incidental Mutation 'IGL01746:Ttll12'
ID153025
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttll12
Ensembl Gene ENSMUSG00000016757
Gene Nametubulin tyrosine ligase-like family, member 12
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01746
Quality Score
Status
Chromosome15
Chromosomal Location83575090-83595157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83578676 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 530 (F530L)
Ref Sequence ENSEMBL: ENSMUSP00000016901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016901] [ENSMUST00000047419] [ENSMUST00000136066]
Predicted Effect probably damaging
Transcript: ENSMUST00000016901
AA Change: F530L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757
AA Change: F530L

DomainStartEndE-ValueType
low complexity region 66 83 N/A INTRINSIC
Pfam:TTL 341 637 7.4e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047419
SMART Domains Protein: ENSMUSP00000037039
Gene: ENSMUSG00000041736

DomainStartEndE-ValueType
Pfam:TspO_MBR 9 157 1e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134334
Predicted Effect probably benign
Transcript: ENSMUST00000136066
SMART Domains Protein: ENSMUSP00000117161
Gene: ENSMUSG00000016757

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 9,004,912 M1187V possibly damaging Het
Ctsm T C 13: 61,539,816 E76G probably benign Het
Ctsm T C 13: 61,538,903 probably benign Het
Egfl8 T C 17: 34,614,916 T63A probably damaging Het
Fat4 T A 3: 38,991,731 C3966* probably null Het
Fsd2 T C 7: 81,553,007 T275A probably benign Het
Fyb2 A T 4: 104,945,207 H102L probably benign Het
Galnt9 T C 5: 110,588,322 I168T probably damaging Het
Hc A G 2: 35,057,326 Y59H probably damaging Het
Khnyn T C 14: 55,886,982 V231A probably benign Het
Larp4b T A 13: 9,158,124 V378E probably damaging Het
Lbx1 A T 19: 45,233,775 S270T possibly damaging Het
Mcm6 G A 1: 128,353,524 R101* probably null Het
Mcph1 T C 8: 18,671,127 L657P probably damaging Het
Ndst2 G T 14: 20,729,414 P253T probably benign Het
Nek4 G A 14: 30,977,584 probably null Het
Nsd1 T A 13: 55,276,515 probably null Het
Oc90 A G 15: 65,889,401 probably benign Het
Plcl2 T A 17: 50,607,696 S578T probably benign Het
Ranbp3l T A 15: 9,063,087 C325* probably null Het
Rps19bp1 T C 15: 80,260,997 Y140C probably damaging Het
Sec62 T A 3: 30,814,246 I208K probably benign Het
Slc25a48 T A 13: 56,470,353 F268I probably damaging Het
Slc35e3 T C 10: 117,744,902 T166A possibly damaging Het
Tmem253 G A 14: 52,017,157 W23* probably null Het
Tmem97 T C 11: 78,542,760 Y103C probably damaging Het
Traf6 A G 2: 101,696,892 E329G possibly damaging Het
Ugt3a2 C T 15: 9,361,668 P177S probably damaging Het
Veph1 T C 3: 66,158,087 T520A probably benign Het
Vmn2r98 T A 17: 19,066,451 Y404N probably damaging Het
Other mutations in Ttll12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Ttll12 APN 15 83578656 missense probably benign 0.15
IGL00942:Ttll12 APN 15 83582448 missense possibly damaging 0.65
IGL02102:Ttll12 APN 15 83582063 missense probably damaging 1.00
IGL02475:Ttll12 APN 15 83587101 missense probably damaging 1.00
IGL02484:Ttll12 APN 15 83581696 missense possibly damaging 0.94
R0403:Ttll12 UTSW 15 83580658 splice site probably benign
R1477:Ttll12 UTSW 15 83580102 missense probably damaging 1.00
R1530:Ttll12 UTSW 15 83588655 missense probably damaging 1.00
R1925:Ttll12 UTSW 15 83581775 missense probably benign 0.06
R3508:Ttll12 UTSW 15 83580630 missense probably damaging 0.98
R3972:Ttll12 UTSW 15 83582096 missense probably damaging 1.00
R4198:Ttll12 UTSW 15 83577013 missense probably damaging 1.00
R4200:Ttll12 UTSW 15 83577013 missense probably damaging 1.00
R4357:Ttll12 UTSW 15 83581757 missense probably damaging 1.00
R4740:Ttll12 UTSW 15 83580120 missense probably damaging 1.00
R5024:Ttll12 UTSW 15 83587113 missense probably damaging 1.00
R5870:Ttll12 UTSW 15 83577036 missense probably damaging 0.97
R6824:Ttll12 UTSW 15 83591377 critical splice donor site probably null
R7034:Ttll12 UTSW 15 83586885 missense probably benign
R7036:Ttll12 UTSW 15 83586885 missense probably benign
R7447:Ttll12 UTSW 15 83586975 missense probably damaging 1.00
R8496:Ttll12 UTSW 15 83577809 missense probably damaging 1.00
R8721:Ttll12 UTSW 15 83580583 missense probably damaging 1.00
Z1088:Ttll12 UTSW 15 83582078 missense probably damaging 1.00
Posted On2014-02-04