Incidental Mutation 'IGL01677:Ttll3'
ID103670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttll3
Ensembl Gene ENSMUSG00000030276
Gene Nametubulin tyrosine ligase-like family, member 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01677
Quality Score
Status
Chromosome6
Chromosomal Location113389260-113414587 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113412984 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 778 (R778G)
Ref Sequence ENSEMBL: ENSMUSP00000037870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032414] [ENSMUST00000038889] [ENSMUST00000060634] [ENSMUST00000113092] [ENSMUST00000129047] [ENSMUST00000129560] [ENSMUST00000205017]
Predicted Effect probably benign
Transcript: ENSMUST00000032414
AA Change: R777G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032414
Gene: ENSMUSG00000030276
AA Change: R777G

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
low complexity region 214 231 N/A INTRINSIC
low complexity region 234 248 N/A INTRINSIC
Pfam:TTL 404 698 7.7e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038889
AA Change: R778G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037870
Gene: ENSMUSG00000030276
AA Change: R778G

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
low complexity region 214 231 N/A INTRINSIC
low complexity region 234 248 N/A INTRINSIC
Pfam:TTL 404 699 9e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060634
SMART Domains Protein: ENSMUSP00000059057
Gene: ENSMUSG00000051169

DomainStartEndE-ValueType
Pfam:PseudoU_synth_2 82 236 1.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113092
SMART Domains Protein: ENSMUSP00000108715
Gene: ENSMUSG00000051169

DomainStartEndE-ValueType
Pfam:PseudoU_synth_2 82 246 7.4e-20 PFAM
low complexity region 303 312 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124078
Predicted Effect probably benign
Transcript: ENSMUST00000129047
SMART Domains Protein: ENSMUSP00000120380
Gene: ENSMUSG00000051169

DomainStartEndE-ValueType
Pfam:PseudoU_synth_2 82 246 5.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129560
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134853
Predicted Effect probably benign
Transcript: ENSMUST00000147726
SMART Domains Protein: ENSMUSP00000120250
Gene: ENSMUSG00000051169

DomainStartEndE-ValueType
Pfam:PseudoU_synth_2 71 235 2.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151618
SMART Domains Protein: ENSMUSP00000115950
Gene: ENSMUSG00000051169

DomainStartEndE-ValueType
Pfam:PseudoU_synth_2 72 179 5.2e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000203524
AA Change: R624G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203880
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204498
Predicted Effect probably benign
Transcript: ENSMUST00000205017
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduced number of primary cilia in colon epithelia accompanied by an increased rate of cell division which is compensated by faster tissue turnover in the colon. Mice exhibit increased incidence of colon tumors by chemical induction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 T A 18: 37,996,647 M154L probably benign Het
Asph T C 4: 9,607,853 D131G probably damaging Het
Cdc45 G A 16: 18,787,000 T429I probably benign Het
Cnga3 C T 1: 37,244,918 R101* probably null Het
Cp T C 3: 19,966,434 I197T probably damaging Het
Cyp4b1 T C 4: 115,636,282 D77G probably damaging Het
Dnah5 G T 15: 28,367,782 W2771L probably damaging Het
Fas G A 19: 34,318,818 V177I probably benign Het
Gde1 A G 7: 118,694,487 probably benign Het
Hyou1 T C 9: 44,382,012 S223P probably benign Het
Klre1 G T 6: 129,582,043 G75C probably damaging Het
Lama1 T C 17: 67,779,148 C1461R probably benign Het
Map3k7 T C 4: 32,017,158 probably benign Het
Mrpl18 A T 17: 12,911,688 I178N probably damaging Het
Nckap1 T C 2: 80,530,297 T503A probably benign Het
Olfr134 T C 17: 38,175,875 S264P probably damaging Het
Olfr654 T C 7: 104,588,145 S114P probably damaging Het
Olfr669 T C 7: 104,938,645 S40P probably benign Het
Olfr846 T C 9: 19,361,145 D70G probably damaging Het
Orc1 C T 4: 108,604,585 T593I probably damaging Het
Phtf1 T A 3: 103,998,783 S594T probably damaging Het
Ppp1r13b A T 12: 111,843,665 D78E probably benign Het
Proz T C 8: 13,065,238 probably benign Het
Rtcb C A 10: 85,943,929 Q292H probably damaging Het
Sept11 A T 5: 93,148,533 T95S probably damaging Het
Slc12a1 A G 2: 125,178,149 probably benign Het
Slc45a3 T A 1: 131,978,970 I394N probably damaging Het
Slc8a1 T C 17: 81,648,607 H334R probably damaging Het
Sort1 T C 3: 108,344,885 I466T probably benign Het
Susd2 A T 10: 75,639,431 V515E possibly damaging Het
Ubfd1 T A 7: 122,071,699 probably benign Het
Utrn G A 10: 12,744,157 T248M probably damaging Het
Vmn2r11 T G 5: 109,053,957 D227A possibly damaging Het
Other mutations in Ttll3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Ttll3 APN 6 113394729 missense probably damaging 1.00
IGL01697:Ttll3 APN 6 113399729 missense probably benign 0.00
IGL01944:Ttll3 APN 6 113414115 missense probably benign
IGL02688:Ttll3 APN 6 113399739 missense probably benign 0.00
IGL03068:Ttll3 APN 6 113409197 missense probably damaging 1.00
R0373:Ttll3 UTSW 6 113398777 missense probably damaging 1.00
R0472:Ttll3 UTSW 6 113409339 missense probably damaging 1.00
R0625:Ttll3 UTSW 6 113408903 critical splice acceptor site probably null
R1868:Ttll3 UTSW 6 113392764 missense possibly damaging 0.95
R2026:Ttll3 UTSW 6 113398770 missense probably damaging 1.00
R2061:Ttll3 UTSW 6 113409042 missense possibly damaging 0.76
R2128:Ttll3 UTSW 6 113412934 missense probably benign 0.31
R2896:Ttll3 UTSW 6 113392722 missense probably benign 0.15
R2903:Ttll3 UTSW 6 113407323 missense probably damaging 0.99
R2906:Ttll3 UTSW 6 113392510 unclassified probably benign
R4659:Ttll3 UTSW 6 113414141 missense probably benign
R4746:Ttll3 UTSW 6 113407392 missense probably damaging 1.00
R4984:Ttll3 UTSW 6 113412940 missense probably benign 0.00
R5358:Ttll3 UTSW 6 113401331 missense probably benign 0.26
R5372:Ttll3 UTSW 6 113401421 nonsense probably null
R5525:Ttll3 UTSW 6 113412978 missense probably benign
R5548:Ttll3 UTSW 6 113393117 missense probably damaging 1.00
R5694:Ttll3 UTSW 6 113399708 missense probably damaging 1.00
R5993:Ttll3 UTSW 6 113398031 nonsense probably null
R6119:Ttll3 UTSW 6 113394741 missense probably damaging 1.00
R6268:Ttll3 UTSW 6 113392563 missense probably benign 0.00
R6719:Ttll3 UTSW 6 113399032 intron probably benign
R6852:Ttll3 UTSW 6 113399155 frame shift probably null
R6852:Ttll3 UTSW 6 113399157 frame shift probably null
R6852:Ttll3 UTSW 6 113399159 frame shift probably null
R6853:Ttll3 UTSW 6 113399157 frame shift probably null
R6854:Ttll3 UTSW 6 113399157 frame shift probably null
R7170:Ttll3 UTSW 6 113413878 missense probably benign 0.41
R7239:Ttll3 UTSW 6 113399157 frame shift probably null
R7302:Ttll3 UTSW 6 113409285 missense probably damaging 1.00
R7330:Ttll3 UTSW 6 113399157 frame shift probably null
R7330:Ttll3 UTSW 6 113399164 frame shift probably null
R7586:Ttll3 UTSW 6 113399157 frame shift probably null
R7586:Ttll3 UTSW 6 113399160 frame shift probably null
R7586:Ttll3 UTSW 6 113399163 frame shift probably null
R7587:Ttll3 UTSW 6 113399157 frame shift probably null
R7701:Ttll3 UTSW 6 113399157 frame shift probably null
R7702:Ttll3 UTSW 6 113399157 frame shift probably null
R7774:Ttll3 UTSW 6 113399160 frame shift probably null
R7775:Ttll3 UTSW 6 113399158 nonsense probably null
R7775:Ttll3 UTSW 6 113399160 frame shift probably null
R7776:Ttll3 UTSW 6 113399159 frame shift probably null
R7793:Ttll3 UTSW 6 113399158 frame shift probably null
R7793:Ttll3 UTSW 6 113399159 frame shift probably null
R7797:Ttll3 UTSW 6 113394777 missense possibly damaging 0.76
R7824:Ttll3 UTSW 6 113399157 frame shift probably null
R7824:Ttll3 UTSW 6 113399161 frame shift probably null
R7824:Ttll3 UTSW 6 113399164 frame shift probably null
R7825:Ttll3 UTSW 6 113399157 frame shift probably null
R7825:Ttll3 UTSW 6 113399159 frame shift probably null
R7826:Ttll3 UTSW 6 113399157 frame shift probably null
R7826:Ttll3 UTSW 6 113399159 frame shift probably null
R7826:Ttll3 UTSW 6 113399160 frame shift probably null
R7826:Ttll3 UTSW 6 113399161 frame shift probably null
R7827:Ttll3 UTSW 6 113399157 frame shift probably null
R7827:Ttll3 UTSW 6 113399162 frame shift probably null
Posted On2014-01-21