Incidental Mutation 'R7034:Ttll12'
ID 546565
Institutional Source Beutler Lab
Gene Symbol Ttll12
Ensembl Gene ENSMUSG00000016757
Gene Name tubulin tyrosine ligase-like family, member 12
Synonyms
MMRRC Submission 045135-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7034 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 83575090-83595157 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83586885 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 264 (F264S)
Ref Sequence ENSEMBL: ENSMUSP00000016901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016901] [ENSMUST00000136066]
AlphaFold Q3UDE2
Predicted Effect probably benign
Transcript: ENSMUST00000016901
AA Change: F264S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000016901
Gene: ENSMUSG00000016757
AA Change: F264S

DomainStartEndE-ValueType
low complexity region 66 83 N/A INTRINSIC
Pfam:TTL 341 637 7.4e-78 PFAM
Predicted Effect silent
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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,609,256 (GRCm38) probably null Het
9030624J02Rik T C 7: 118,773,092 (GRCm38) S290P probably damaging Het
9130011E15Rik A G 19: 45,965,249 (GRCm38) I195T probably damaging Het
Adamts1 T A 16: 85,802,746 (GRCm38) probably benign Het
Aff4 A G 11: 53,408,409 (GRCm38) K979E probably damaging Het
Aftph A T 11: 20,692,498 (GRCm38) M845K probably damaging Het
Akt2 T C 7: 27,637,012 (GRCm38) probably null Het
Aldh1a7 A T 19: 20,708,178 (GRCm38) L336Q possibly damaging Het
Ank3 C T 10: 69,999,379 (GRCm38) T680M probably damaging Het
Apeh T C 9: 108,094,271 (GRCm38) E59G possibly damaging Het
Armc8 C T 9: 99,483,965 (GRCm38) probably null Het
Atp2b1 C T 10: 98,987,310 (GRCm38) T244I probably damaging Het
Btaf1 C A 19: 37,004,469 (GRCm38) T1633K probably benign Het
Cacng8 A G 7: 3,415,303 (GRCm38) S324G probably benign Het
Calcr T A 6: 3,692,543 (GRCm38) Q400L probably damaging Het
Caprin2 G A 6: 148,848,205 (GRCm38) P536S possibly damaging Het
Ccdc54 A T 16: 50,590,588 (GRCm38) M105K probably benign Het
Ccna1 T C 3: 55,046,039 (GRCm38) E381G possibly damaging Het
Cd2ap A T 17: 42,798,599 (GRCm38) L623Q probably damaging Het
Cdkl3 A G 11: 52,027,215 (GRCm38) E415G probably benign Het
Chd5 C A 4: 152,360,941 (GRCm38) L430I possibly damaging Het
Clspn G A 4: 126,580,982 (GRCm38) E975K possibly damaging Het
Cobl C A 11: 12,254,177 (GRCm38) V835F probably damaging Het
D430041D05Rik C A 2: 104,192,538 (GRCm38) R1037L probably damaging Het
Derl1 A G 15: 57,879,047 (GRCm38) probably null Het
Dhrs9 T G 2: 69,393,176 (GRCm38) N89K probably benign Het
Erich1 A G 8: 14,064,330 (GRCm38) I60T probably benign Het
Fam126b T A 1: 58,535,537 (GRCm38) M282L probably benign Het
Fam155a G A 8: 9,770,589 (GRCm38) P144S possibly damaging Het
Fam184a A T 10: 53,694,814 (GRCm38) S408T possibly damaging Het
Fcgr4 T A 1: 171,020,088 (GRCm38) M85K probably benign Het
Foxj3 A G 4: 119,619,300 (GRCm38) E259G probably damaging Het
Galnt11 T C 5: 25,258,813 (GRCm38) I361T probably damaging Het
Gck A G 11: 5,901,747 (GRCm38) S441P probably damaging Het
Gdap1l1 G T 2: 163,446,145 (GRCm38) V98F probably damaging Het
Gm13089 A T 4: 143,697,328 (GRCm38) I297N probably damaging Het
Gm884 T A 11: 103,615,812 (GRCm38) probably benign Het
Gramd1a A G 7: 31,132,756 (GRCm38) probably null Het
Herc3 A T 6: 58,876,855 (GRCm38) M629L probably benign Het
Hist2h2ab C T 3: 96,219,988 (GRCm38) Q25* probably null Het
Hoxc12 G A 15: 102,938,360 (GRCm38) G229D probably damaging Het
Itga9 T C 9: 118,698,365 (GRCm38) L528P probably benign Het
Krt39 A C 11: 99,521,236 (GRCm38) V8G probably benign Het
Krt71 A G 15: 101,738,337 (GRCm38) I312T probably benign Het
Mllt11 A G 3: 95,220,433 (GRCm38) Y9H probably damaging Het
Mrgpra3 G T 7: 47,590,090 (GRCm38) N29K possibly damaging Het
Mug1 A G 6: 121,873,644 (GRCm38) T700A probably benign Het
Myl1 T C 1: 66,930,236 (GRCm38) N79S probably damaging Het
Myo18b G A 5: 112,723,904 (GRCm38) Q2104* probably null Het
Ndufs2 T C 1: 171,238,308 (GRCm38) D256G probably benign Het
Nek5 T C 8: 22,107,723 (GRCm38) N280S probably benign Het
Nwd2 A T 5: 63,804,915 (GRCm38) N614I probably damaging Het
Olfr794 G A 10: 129,571,072 (GRCm38) C139Y possibly damaging Het
Parp1 G T 1: 180,598,252 (GRCm38) K849N possibly damaging Het
Pcnx2 T C 8: 125,785,302 (GRCm38) T1422A probably damaging Het
Plce1 A G 19: 38,739,357 (GRCm38) N1520S probably damaging Het
Ppcdc T C 9: 57,415,170 (GRCm38) T149A probably damaging Het
Ppl A G 16: 5,087,502 (GRCm38) V1643A probably benign Het
Prrx1 T A 1: 163,248,338 (GRCm38) M220L probably benign Het
Pspc1 A C 14: 56,758,628 (GRCm38) probably null Het
Ptpn20 A G 14: 33,614,435 (GRCm38) *44W probably null Het
Qars T A 9: 108,514,777 (GRCm38) V83E probably damaging Het
Rbm33 T C 5: 28,394,498 (GRCm38) M956T unknown Het
Sash1 C A 10: 8,730,083 (GRCm38) E848* probably null Het
Scai T A 2: 39,121,135 (GRCm38) Y163F probably damaging Het
Serpinf2 A T 11: 75,438,418 (GRCm38) probably benign Het
Sgo2b T A 8: 63,926,834 (GRCm38) H988L probably benign Het
Sh2b2 G A 5: 136,218,885 (GRCm38) T604I probably benign Het
Skint4 A T 4: 112,158,084 (GRCm38) I449F possibly damaging Het
Slc30a2 A G 4: 134,347,342 (GRCm38) I88V possibly damaging Het
Smug1 A G 15: 103,155,942 (GRCm38) L184P probably damaging Het
Spatc1 A G 15: 76,283,880 (GRCm38) T180A probably benign Het
Ssr1 A T 13: 37,994,025 (GRCm38) L20Q probably null Het
Supt4a A G 11: 87,743,258 (GRCm38) E100G probably damaging Het
Teddm2 T C 1: 153,850,574 (GRCm38) I132V probably benign Het
Tmem131 C T 1: 36,792,973 (GRCm38) G1861E possibly damaging Het
Tpr A T 1: 150,423,607 (GRCm38) H1186L probably benign Het
Trim34b A T 7: 104,329,536 (GRCm38) probably benign Het
Trpm2 T C 10: 77,912,592 (GRCm38) M1415V probably benign Het
Vmn2r59 T C 7: 42,046,220 (GRCm38) E256G probably benign Het
Vmn2r93 A T 17: 18,326,410 (GRCm38) H848L probably benign Het
Wdfy3 G A 5: 101,907,518 (GRCm38) T1562I probably damaging Het
Ybey T C 10: 76,468,363 (GRCm38) S2G possibly damaging Het
Zfp346 A T 13: 55,132,387 (GRCm38) Q308L probably benign Het
Other mutations in Ttll12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Ttll12 APN 15 83,578,656 (GRCm38) missense probably benign 0.15
IGL00942:Ttll12 APN 15 83,582,448 (GRCm38) missense possibly damaging 0.65
IGL01746:Ttll12 APN 15 83,578,676 (GRCm38) missense probably damaging 1.00
IGL02102:Ttll12 APN 15 83,582,063 (GRCm38) missense probably damaging 1.00
IGL02475:Ttll12 APN 15 83,587,101 (GRCm38) missense probably damaging 1.00
IGL02484:Ttll12 APN 15 83,581,696 (GRCm38) missense possibly damaging 0.94
R0403:Ttll12 UTSW 15 83,580,658 (GRCm38) splice site probably benign
R1477:Ttll12 UTSW 15 83,580,102 (GRCm38) missense probably damaging 1.00
R1530:Ttll12 UTSW 15 83,588,655 (GRCm38) missense probably damaging 1.00
R1925:Ttll12 UTSW 15 83,581,775 (GRCm38) missense probably benign 0.06
R3508:Ttll12 UTSW 15 83,580,630 (GRCm38) missense probably damaging 0.98
R3972:Ttll12 UTSW 15 83,582,096 (GRCm38) missense probably damaging 1.00
R4198:Ttll12 UTSW 15 83,577,013 (GRCm38) missense probably damaging 1.00
R4200:Ttll12 UTSW 15 83,577,013 (GRCm38) missense probably damaging 1.00
R4357:Ttll12 UTSW 15 83,581,757 (GRCm38) missense probably damaging 1.00
R4740:Ttll12 UTSW 15 83,580,120 (GRCm38) missense probably damaging 1.00
R5024:Ttll12 UTSW 15 83,587,113 (GRCm38) missense probably damaging 1.00
R5870:Ttll12 UTSW 15 83,577,036 (GRCm38) missense probably damaging 0.97
R6824:Ttll12 UTSW 15 83,591,377 (GRCm38) critical splice donor site probably null
R7036:Ttll12 UTSW 15 83,586,885 (GRCm38) missense probably benign
R7447:Ttll12 UTSW 15 83,586,975 (GRCm38) missense probably damaging 1.00
R8496:Ttll12 UTSW 15 83,577,809 (GRCm38) missense probably damaging 1.00
R8721:Ttll12 UTSW 15 83,580,583 (GRCm38) missense probably damaging 1.00
R8841:Ttll12 UTSW 15 83,581,792 (GRCm38) splice site probably benign
R9199:Ttll12 UTSW 15 83,582,358 (GRCm38) missense probably damaging 0.99
R9202:Ttll12 UTSW 15 83,582,063 (GRCm38) missense probably damaging 1.00
Z1088:Ttll12 UTSW 15 83,582,078 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGGGATCTAGACCAAGACAG -3'
(R):5'- CTTGCATACCCCAGAGGATG -3'

Sequencing Primer
(F):5'- ACCCTGTGTGGCTACAGGAG -3'
(R):5'- CCAGAGGATGGGCCGTG -3'
Posted On 2019-05-13