Incidental Mutation 'R5372:Ttll3'
ID 428784
Institutional Source Beutler Lab
Gene Symbol Ttll3
Ensembl Gene ENSMUSG00000030276
Gene Name tubulin tyrosine ligase-like family, member 3
Synonyms 4833441J24Rik
MMRRC Submission 042948-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5372 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113366221-113391548 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 113378382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 257 (K257*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032414] [ENSMUST00000038889] [ENSMUST00000204026] [ENSMUST00000205017]
AlphaFold A4Q9E5
Predicted Effect probably null
Transcript: ENSMUST00000032414
AA Change: K410*
SMART Domains Protein: ENSMUSP00000032414
Gene: ENSMUSG00000030276
AA Change: K410*

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 null
Transcript: ENSMUST00000038889
AA Change: K411*
SMART Domains Protein: ENSMUSP00000037870
Gene: ENSMUSG00000030276
AA Change: K411*

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 null
Transcript: ENSMUST00000138131
AA Change: K257*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161831
AA Change: Q214L
Predicted Effect probably null
Transcript: ENSMUST00000203524
AA Change: K257*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203925
Predicted Effect probably benign
Transcript: ENSMUST00000204026
SMART Domains Protein: ENSMUSP00000145049
Gene: ENSMUSG00000030276

DomainStartEndE-ValueType
low complexity region 66 83 N/A INTRINSIC
low complexity region 86 100 N/A INTRINSIC
low complexity region 248 259 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204683
Predicted Effect probably benign
Transcript: ENSMUST00000205017
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (89/93)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,848,988 (GRCm39) D108E probably damaging Het
Abhd12b A G 12: 70,227,800 (GRCm39) D194G probably damaging Het
Adck5 A G 15: 76,478,707 (GRCm39) probably benign Het
Adgrb3 C T 1: 25,167,940 (GRCm39) V792I probably benign Het
Anxa8 G A 14: 33,815,868 (GRCm39) V174M probably damaging Het
Apol9b A T 15: 77,619,920 (GRCm39) R239W probably benign Het
Arhgap26 A G 18: 38,775,509 (GRCm39) noncoding transcript Het
Atrnl1 A G 19: 57,743,968 (GRCm39) Y1190C probably benign Het
Brinp3 T G 1: 146,707,464 (GRCm39) L376R probably damaging Het
Btbd2 A T 10: 80,484,475 (GRCm39) M132K probably damaging Het
C130073F10Rik A T 4: 101,747,684 (GRCm39) I115K probably damaging Het
C1ra T A 6: 124,498,584 (GRCm39) Y426N probably damaging Het
Cacna1b A T 2: 24,623,971 (GRCm39) V203E probably damaging Het
Catsperg1 T A 7: 28,910,137 (GRCm39) D68V probably benign Het
Ccdc158 A C 5: 92,780,419 (GRCm39) S885A possibly damaging Het
Cdc42bpa T C 1: 179,892,544 (GRCm39) V236A probably damaging Het
Cdca7 A T 2: 72,312,793 (GRCm39) E176D probably damaging Het
Cdk17 A G 10: 93,061,901 (GRCm39) D211G probably benign Het
Clca3a2 A C 3: 144,503,286 (GRCm39) M888R probably benign Het
Clcn7 T A 17: 25,376,153 (GRCm39) M568K possibly damaging Het
Clip1 G T 5: 123,768,303 (GRCm39) N811K probably benign Het
Col12a1 T A 9: 79,585,648 (GRCm39) Y1243F probably damaging Het
Dctn1 T A 6: 83,167,192 (GRCm39) D315E probably damaging Het
Dgcr2 T C 16: 17,690,508 (GRCm39) T41A probably benign Het
Dync2h1 G A 9: 7,176,962 (GRCm39) probably benign Het
Ep300 A G 15: 81,521,031 (GRCm39) I1264V unknown Het
Fam167b A T 4: 129,472,092 (GRCm39) L26Q possibly damaging Het
Fam178b T A 1: 36,603,929 (GRCm39) I457F possibly damaging Het
Fgd4 A T 16: 16,302,155 (GRCm39) N133K probably benign Het
Fndc1 C G 17: 7,984,042 (GRCm39) V1295L unknown Het
Gad2 A T 2: 22,580,255 (GRCm39) D552V possibly damaging Het
Hars2 T C 18: 36,923,534 (GRCm39) Y361H possibly damaging Het
Heca T A 10: 17,790,887 (GRCm39) S390C probably damaging Het
Hephl1 G T 9: 15,009,195 (GRCm39) Y132* probably null Het
Hormad1 T A 3: 95,483,735 (GRCm39) D182E probably damaging Het
Ifna15 G A 4: 88,476,338 (GRCm39) P49S probably damaging Het
Khsrp T C 17: 57,331,292 (GRCm39) T429A possibly damaging Het
Magi2 A G 5: 20,907,108 (GRCm39) Q1094R possibly damaging Het
Map3k11 T A 19: 5,740,990 (GRCm39) I239K probably damaging Het
Mtus2 A G 5: 148,250,222 (GRCm39) T1319A probably damaging Het
Nup54 A G 5: 92,565,716 (GRCm39) I406T probably damaging Het
Nxpe2 T C 9: 48,250,819 (GRCm39) T43A possibly damaging Het
Nynrin A G 14: 56,105,948 (GRCm39) E889G probably benign Het
Opa1 A C 16: 29,404,937 (GRCm39) H45P probably benign Het
Or14c44 T A 7: 86,062,176 (GRCm39) I202N possibly damaging Het
Or4f60 A G 2: 111,902,454 (GRCm39) I158T probably benign Het
Or56b2j A G 7: 104,353,002 (GRCm39) D76G probably benign Het
Or8a1b T C 9: 37,623,234 (GRCm39) M114V possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Papola A G 12: 105,793,309 (GRCm39) K543R probably benign Het
Plcxd3 G A 15: 4,604,270 (GRCm39) V293I probably benign Het
Polr2g T C 19: 8,774,667 (GRCm39) Y72C probably damaging Het
Ppp1r21 A G 17: 88,858,103 (GRCm39) K205E probably benign Het
Ptpre A G 7: 135,255,669 (GRCm39) K53E possibly damaging Het
Rasal3 T C 17: 32,610,318 (GRCm39) K990E probably benign Het
Rgs3 A T 4: 62,570,934 (GRCm39) probably benign Het
Rhd A G 4: 134,611,943 (GRCm39) T254A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scube3 G T 17: 28,371,456 (GRCm39) C57F probably damaging Het
Sh2d5 A G 4: 137,982,010 (GRCm39) D57G possibly damaging Het
Slc12a6 T A 2: 112,177,705 (GRCm39) L608* probably null Het
Slk A T 19: 47,613,832 (GRCm39) N896I probably damaging Het
Smc6 A G 12: 11,332,431 (GRCm39) D211G probably damaging Het
Sox6 A T 7: 115,149,386 (GRCm39) Y371* probably null Het
Srcap G A 7: 127,156,785 (GRCm39) probably null Het
Stard5 T A 7: 83,282,428 (GRCm39) D80E probably damaging Het
Supv3l1 C T 10: 62,268,136 (GRCm39) V570M probably damaging Het
Syt7 G T 19: 10,403,985 (GRCm39) V180L probably damaging Het
Tacc2 T A 7: 130,224,990 (GRCm39) H558Q probably benign Het
Tas2r120 T A 6: 132,634,446 (GRCm39) M176K possibly damaging Het
Tmem135 A T 7: 88,814,382 (GRCm39) probably null Het
Trim35 T C 14: 66,534,715 (GRCm39) V66A possibly damaging Het
Tspan12 A G 6: 21,772,698 (GRCm39) S284P probably benign Het
Uggt1 C A 1: 36,283,141 (GRCm39) probably benign Het
Vmn2r7 T A 3: 64,623,745 (GRCm39) I283F probably damaging Het
Wdfy2 T G 14: 63,192,334 (GRCm39) H363Q probably damaging Het
Wdr4 T A 17: 31,729,554 (GRCm39) K95N probably damaging Het
Zfp141 T C 7: 42,126,620 (GRCm39) N91S possibly damaging Het
Zfp383 C T 7: 29,614,695 (GRCm39) R317* probably null Het
Other mutations in Ttll3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Ttll3 APN 6 113,371,690 (GRCm39) missense probably damaging 1.00
IGL01677:Ttll3 APN 6 113,389,945 (GRCm39) missense probably benign
IGL01697:Ttll3 APN 6 113,376,690 (GRCm39) missense probably benign 0.00
IGL01944:Ttll3 APN 6 113,391,076 (GRCm39) missense probably benign
IGL02688:Ttll3 APN 6 113,376,700 (GRCm39) missense probably benign 0.00
IGL03068:Ttll3 APN 6 113,386,158 (GRCm39) missense probably damaging 1.00
R0373:Ttll3 UTSW 6 113,375,738 (GRCm39) missense probably damaging 1.00
R0472:Ttll3 UTSW 6 113,386,300 (GRCm39) missense probably damaging 1.00
R0625:Ttll3 UTSW 6 113,385,864 (GRCm39) critical splice acceptor site probably null
R1868:Ttll3 UTSW 6 113,369,725 (GRCm39) missense possibly damaging 0.95
R2026:Ttll3 UTSW 6 113,375,731 (GRCm39) missense probably damaging 1.00
R2061:Ttll3 UTSW 6 113,386,003 (GRCm39) missense possibly damaging 0.76
R2128:Ttll3 UTSW 6 113,389,895 (GRCm39) missense probably benign 0.31
R2896:Ttll3 UTSW 6 113,369,683 (GRCm39) missense probably benign 0.15
R2903:Ttll3 UTSW 6 113,384,284 (GRCm39) missense probably damaging 0.99
R2906:Ttll3 UTSW 6 113,369,471 (GRCm39) unclassified probably benign
R4659:Ttll3 UTSW 6 113,391,102 (GRCm39) missense probably benign
R4746:Ttll3 UTSW 6 113,384,353 (GRCm39) missense probably damaging 1.00
R4984:Ttll3 UTSW 6 113,389,901 (GRCm39) missense probably benign 0.00
R5358:Ttll3 UTSW 6 113,378,292 (GRCm39) missense probably benign 0.26
R5525:Ttll3 UTSW 6 113,389,939 (GRCm39) missense probably benign
R5548:Ttll3 UTSW 6 113,370,078 (GRCm39) missense probably damaging 1.00
R5694:Ttll3 UTSW 6 113,376,669 (GRCm39) missense probably damaging 1.00
R5993:Ttll3 UTSW 6 113,374,992 (GRCm39) nonsense probably null
R6119:Ttll3 UTSW 6 113,371,702 (GRCm39) missense probably damaging 1.00
R6268:Ttll3 UTSW 6 113,369,524 (GRCm39) missense probably benign 0.00
R6719:Ttll3 UTSW 6 113,375,993 (GRCm39) intron probably benign
R6852:Ttll3 UTSW 6 113,376,120 (GRCm39) frame shift probably null
R6852:Ttll3 UTSW 6 113,376,116 (GRCm39) frame shift probably null
R6852:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R6853:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R6854:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7170:Ttll3 UTSW 6 113,390,839 (GRCm39) missense probably benign 0.41
R7239:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7302:Ttll3 UTSW 6 113,386,246 (GRCm39) missense probably damaging 1.00
R7330:Ttll3 UTSW 6 113,376,125 (GRCm39) frame shift probably null
R7330:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7586:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7587:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7701:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7702:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7776:Ttll3 UTSW 6 113,376,120 (GRCm39) frame shift probably null
R7793:Ttll3 UTSW 6 113,376,120 (GRCm39) frame shift probably null
R7797:Ttll3 UTSW 6 113,371,738 (GRCm39) missense possibly damaging 0.76
R7824:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7825:Ttll3 UTSW 6 113,376,120 (GRCm39) frame shift probably null
R7825:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7826:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7827:Ttll3 UTSW 6 113,376,123 (GRCm39) frame shift probably null
R7827:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7831:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7832:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7833:Ttll3 UTSW 6 113,386,298 (GRCm39) missense probably damaging 1.00
R7966:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R8344:Ttll3 UTSW 6 113,371,959 (GRCm39) missense probably damaging 1.00
R8418:Ttll3 UTSW 6 113,371,734 (GRCm39) missense probably benign 0.04
R8768:Ttll3 UTSW 6 113,385,949 (GRCm39) missense probably damaging 1.00
R9017:Ttll3 UTSW 6 113,389,850 (GRCm39) missense probably benign 0.00
R9036:Ttll3 UTSW 6 113,376,657 (GRCm39) missense possibly damaging 0.47
R9090:Ttll3 UTSW 6 113,369,596 (GRCm39) missense probably benign
R9271:Ttll3 UTSW 6 113,369,596 (GRCm39) missense probably benign
R9329:Ttll3 UTSW 6 113,369,635 (GRCm39) missense probably benign
R9532:Ttll3 UTSW 6 113,385,970 (GRCm39) missense possibly damaging 0.69
R9535:Ttll3 UTSW 6 113,389,834 (GRCm39) missense probably damaging 1.00
R9725:Ttll3 UTSW 6 113,386,114 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCAATGAATGGTGCGTGTC -3'
(R):5'- AGGGCTCCTGAGTAGAATCATC -3'

Sequencing Primer
(F):5'- GTGCGTGTCACATTTCCTG -3'
(R):5'- CTCCTGAGTAGAATCATCCAGGATAG -3'
Posted On 2016-09-06