Incidental Mutation 'IGL01289:Ttll13'
ID72844
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttll13
Ensembl Gene ENSMUSG00000045467
Gene Nametubulin tyrosine ligase-like family, member 13
Synonyms1700111A04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.188) question?
Stock #IGL01289
Quality Score
Status
Chromosome7
Chromosomal Location80246376-80260821 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80260439 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 777 (C777S)
Ref Sequence ENSEMBL: ENSMUSP00000062795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058266] [ENSMUST00000117989] [ENSMUST00000205270]
Predicted Effect probably benign
Transcript: ENSMUST00000058266
AA Change: C777S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062795
Gene: ENSMUSG00000045467
AA Change: C777S

DomainStartEndE-ValueType
low complexity region 9 30 N/A INTRINSIC
low complexity region 78 86 N/A INTRINSIC
Pfam:TTL 131 427 3.4e-90 PFAM
coiled coil region 504 528 N/A INTRINSIC
low complexity region 589 603 N/A INTRINSIC
low complexity region 646 657 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107381
SMART Domains Protein: ENSMUSP00000103004
Gene: ENSMUSG00000045467

DomainStartEndE-ValueType
low complexity region 9 30 N/A INTRINSIC
low complexity region 78 86 N/A INTRINSIC
Pfam:TTL 131 427 3.5e-90 PFAM
coiled coil region 504 528 N/A INTRINSIC
low complexity region 589 603 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117989
SMART Domains Protein: ENSMUSP00000113444
Gene: ENSMUSG00000047084

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
coiled coil region 46 70 N/A INTRINSIC
Pfam:Neugrin 73 293 1.2e-99 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138005
Predicted Effect probably benign
Transcript: ENSMUST00000205270
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 131,138,621 M289L probably benign Het
Actg2 A T 6: 83,523,175 M38K probably damaging Het
Atp8a2 G A 14: 59,691,461 A1048V probably benign Het
Cables1 T C 18: 11,944,564 V583A probably damaging Het
Ccng2 A G 5: 93,273,417 K262R probably null Het
Cfap206 C A 4: 34,716,469 S332I probably null Het
Dscam A T 16: 96,643,882 Y1536* probably null Het
Fam136b-ps T A 15: 31,276,864 probably benign Het
Fga A G 3: 83,031,245 Y309C possibly damaging Het
Fgd4 A T 16: 16,484,303 N129K probably damaging Het
Gbp8 G A 5: 105,017,869 A306V probably benign Het
Hecw1 T C 13: 14,264,134 Y888C probably damaging Het
Herc6 G A 6: 57,598,623 G210R probably damaging Het
Ints7 G A 1: 191,615,778 R754H probably benign Het
Itga1 T C 13: 114,986,226 I731M possibly damaging Het
Itpr2 T A 6: 146,112,535 K2588* probably null Het
Itpr3 T A 17: 27,099,765 M965K probably damaging Het
Kif22 A G 7: 127,033,473 V247A probably damaging Het
Lrrc17 T C 5: 21,560,901 F127S probably damaging Het
Lrriq4 T A 3: 30,650,393 L190Q probably damaging Het
Mcee T A 7: 64,400,318 F66I probably damaging Het
Med23 T C 10: 24,902,121 F789S probably damaging Het
Nmd3 T G 3: 69,724,287 S25R possibly damaging Het
Npy5r T A 8: 66,681,866 N92Y possibly damaging Het
Olfr1241 A G 2: 89,482,847 M96T probably benign Het
Rnf224 G T 2: 25,236,247 D31E possibly damaging Het
Timd2 T C 11: 46,679,672 E192G probably benign Het
Tubgcp3 A G 8: 12,639,625 L547P probably damaging Het
Usp47 G T 7: 112,063,358 V236F probably damaging Het
Xirp2 A T 2: 67,513,181 N1922I probably damaging Het
Zdhhc24 G T 19: 4,878,822 W25L probably damaging Het
Other mutations in Ttll13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Ttll13 APN 7 80259549 missense possibly damaging 0.73
IGL02026:Ttll13 APN 7 80260379 missense probably benign 0.03
IGL02816:Ttll13 APN 7 80253094 missense possibly damaging 0.91
R0345:Ttll13 UTSW 7 80247336 missense probably benign 0.00
R0347:Ttll13 UTSW 7 80260505 missense possibly damaging 0.73
R0491:Ttll13 UTSW 7 80260350 missense probably benign
R1779:Ttll13 UTSW 7 80260508 missense probably benign 0.33
R1983:Ttll13 UTSW 7 80253616 missense possibly damaging 0.70
R2218:Ttll13 UTSW 7 80252502 missense probably damaging 1.00
R2520:Ttll13 UTSW 7 80250216 missense probably damaging 1.00
R4496:Ttll13 UTSW 7 80256919 missense probably benign 0.08
R4736:Ttll13 UTSW 7 80248276 intron probably null
R5330:Ttll13 UTSW 7 80260509 missense probably benign 0.33
R5930:Ttll13 UTSW 7 80253166 missense probably damaging 1.00
R5985:Ttll13 UTSW 7 80254638 missense probably damaging 1.00
R6060:Ttll13 UTSW 7 80258743 missense probably damaging 1.00
R6182:Ttll13 UTSW 7 80260233 missense probably benign 0.18
R6256:Ttll13 UTSW 7 80258304 missense probably benign 0.00
R6501:Ttll13 UTSW 7 80250176 missense possibly damaging 0.89
R6901:Ttll13 UTSW 7 80250182 missense probably damaging 1.00
R7064:Ttll13 UTSW 7 80257030 missense probably null 0.53
R7127:Ttll13 UTSW 7 80253658 missense possibly damaging 0.53
R7217:Ttll13 UTSW 7 80254163 missense probably damaging 1.00
R7241:Ttll13 UTSW 7 80254163 missense probably damaging 1.00
R7243:Ttll13 UTSW 7 80254163 missense probably damaging 1.00
R7244:Ttll13 UTSW 7 80254163 missense probably damaging 1.00
R7246:Ttll13 UTSW 7 80254163 missense probably damaging 1.00
R7317:Ttll13 UTSW 7 80254163 missense probably damaging 1.00
R7340:Ttll13 UTSW 7 80257024 missense probably damaging 0.98
R7453:Ttll13 UTSW 7 80260434 missense probably benign
R7579:Ttll13 UTSW 7 80258233 missense probably benign 0.00
R7810:Ttll13 UTSW 7 80253127 missense probably damaging 1.00
R7855:Ttll13 UTSW 7 80254097 missense probably damaging 1.00
R7860:Ttll13 UTSW 7 80255387 missense probably benign 0.02
R8122:Ttll13 UTSW 7 80259469 missense probably benign 0.16
Posted On2013-10-07