Incidental Mutation 'R5279:Ttll9'
ID 404090
Institutional Source Beutler Lab
Gene Symbol Ttll9
Ensembl Gene ENSMUSG00000074673
Gene Name tubulin tyrosine ligase-like family, member 9
Synonyms 4930509O20Rik, 1700016F23Rik
MMRRC Submission 042839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R5279 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 152804405-152850402 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 152804464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 2 (S2T)
Ref Sequence ENSEMBL: ENSMUSP00000122494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099197] [ENSMUST00000103155] [ENSMUST00000109801] [ENSMUST00000146626] [ENSMUST00000152158]
AlphaFold A2APC3
Predicted Effect possibly damaging
Transcript: ENSMUST00000099197
AA Change: S2T

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: S2T

DomainStartEndE-ValueType
Pfam:TTL 69 397 2.2e-87 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000103155
AA Change: S2T

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: S2T

DomainStartEndE-ValueType
Pfam:TTL 67 397 5.3e-88 PFAM
low complexity region 452 461 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109801
AA Change: S2T

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673
AA Change: S2T

DomainStartEndE-ValueType
Pfam:TTL 68 222 4.8e-39 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000146626
AA Change: S2T
Predicted Effect possibly damaging
Transcript: ENSMUST00000152158
AA Change: S2T

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.0654 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C A 17: 24,508,388 (GRCm39) G1049V probably damaging Het
Afdn G A 17: 14,109,214 (GRCm39) R1579H probably damaging Het
Ankrd28 T A 14: 31,456,963 (GRCm39) N386Y probably damaging Het
Atf7ip T A 6: 136,580,377 (GRCm39) Y1100* probably null Het
Atp9b T A 18: 80,956,073 (GRCm39) E3V probably damaging Het
AW554918 T G 18: 25,308,488 (GRCm39) D60E possibly damaging Het
Baz2b G T 2: 59,762,496 (GRCm39) Q927K probably damaging Het
Birc6 A G 17: 74,957,042 (GRCm39) R3659G probably damaging Het
C8a T G 4: 104,703,185 (GRCm39) N291H probably damaging Het
Calcoco1 G A 15: 102,619,420 (GRCm39) L390F probably damaging Het
Carmil3 A G 14: 55,739,028 (GRCm39) D894G probably damaging Het
Cdc20 A G 4: 118,290,711 (GRCm39) Y430H probably damaging Het
Cdc6 A T 11: 98,803,088 (GRCm39) I316F probably damaging Het
Ceacam23 T A 7: 17,607,214 (GRCm39) noncoding transcript Het
Cenpu T A 8: 47,031,945 (GRCm39) probably null Het
Csmd2 T A 4: 128,350,707 (GRCm39) V1592D probably benign Het
Csmd3 G T 15: 48,655,340 (GRCm39) probably null Het
Dnah7c T C 1: 46,558,429 (GRCm39) F512L probably benign Het
Fam136a T A 6: 86,343,686 (GRCm39) L61Q probably damaging Het
Fpgs A C 2: 32,582,779 (GRCm39) probably benign Het
Fzd4 G A 7: 89,056,881 (GRCm39) M309I probably benign Het
Gad2 A G 2: 22,563,969 (GRCm39) T391A probably benign Het
Gm11563 A T 11: 99,549,539 (GRCm39) S72T unknown Het
Gon4l A G 3: 88,794,944 (GRCm39) I716V probably benign Het
Itga9 T C 9: 118,457,273 (GRCm39) V128A probably damaging Het
Kat6a CGCAGCAGCAGCAGCAGCA CGCAGCAGCAGCA 8: 23,429,664 (GRCm39) probably benign Het
Lrrc9 T A 12: 72,542,368 (GRCm39) D1063E possibly damaging Het
Lyst T A 13: 13,823,387 (GRCm39) L1453* probably null Het
Mcm3ap T C 10: 76,343,373 (GRCm39) V1755A probably damaging Het
Mrc1 T C 2: 14,314,869 (GRCm39) S985P probably damaging Het
Mst1 A C 9: 107,959,414 (GRCm39) K233N probably damaging Het
Nr2c2ap G A 8: 70,584,653 (GRCm39) D42N probably damaging Het
Ntn1 A G 11: 68,276,538 (GRCm39) S137P probably benign Het
Pard3 T C 8: 128,186,867 (GRCm39) probably null Het
Pcdh15 T A 10: 74,430,015 (GRCm39) D1210E probably damaging Het
Pcdhga5 T C 18: 37,827,774 (GRCm39) L74P probably benign Het
Pcsk5 T C 19: 17,573,022 (GRCm39) probably null Het
Pdia3 T C 2: 121,244,484 (GRCm39) probably benign Het
Pikfyve A T 1: 65,235,858 (GRCm39) R177* probably null Het
Pklr A G 3: 89,050,566 (GRCm39) E409G probably damaging Het
Plod2 T C 9: 92,463,376 (GRCm39) Y154H probably damaging Het
Psmc3 T A 2: 90,884,667 (GRCm39) D6E probably benign Het
Ptpru T A 4: 131,547,334 (GRCm39) N205I possibly damaging Het
Rbm6 T C 9: 107,655,213 (GRCm39) E1006G probably benign Het
Rgl2 T C 17: 34,154,922 (GRCm39) V642A probably benign Het
Rnf8 T A 17: 29,845,680 (GRCm39) H104Q possibly damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Rpa1 T C 11: 75,204,170 (GRCm39) N269S probably damaging Het
Sdk2 A G 11: 113,757,857 (GRCm39) M519T probably benign Het
Snx30 A G 4: 59,885,070 (GRCm39) S237G probably benign Het
Spx A G 6: 142,359,766 (GRCm39) N36S probably damaging Het
Stard7 T C 2: 127,137,416 (GRCm39) Y289H probably damaging Het
Sugp2 T C 8: 70,709,757 (GRCm39) probably benign Het
Susd4 C T 1: 182,715,043 (GRCm39) T288I probably damaging Het
Tceanc2 T A 4: 107,034,826 (GRCm39) probably null Het
Tm4sf4 T G 3: 57,341,159 (GRCm39) V97G probably benign Het
Tmtc1 C T 6: 148,256,629 (GRCm39) probably benign Het
Trappc11 C T 8: 47,958,339 (GRCm39) probably benign Het
Triobp G T 15: 78,878,591 (GRCm39) V398F possibly damaging Het
Ttn T C 2: 76,731,320 (GRCm39) probably benign Het
Tyw3 A G 3: 154,300,108 (GRCm39) C80R probably damaging Het
Usp24 T C 4: 106,242,621 (GRCm39) V1177A possibly damaging Het
Vmn1r65 A G 7: 6,011,754 (GRCm39) V160A probably damaging Het
Vmn2r104 T A 17: 20,262,146 (GRCm39) H328L probably benign Het
Vmn2r65 A C 7: 84,589,849 (GRCm39) I689S probably damaging Het
Wrn A G 8: 33,731,129 (GRCm39) Y1068H probably damaging Het
Xpo4 C A 14: 57,850,866 (GRCm39) S346I probably benign Het
Zc3h3 T A 15: 75,711,439 (GRCm39) T341S probably benign Het
Zxdc T C 6: 90,347,419 (GRCm39) M260T possibly damaging Het
Other mutations in Ttll9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00714:Ttll9 APN 2 152,826,180 (GRCm39) missense probably damaging 0.99
IGL01107:Ttll9 APN 2 152,844,809 (GRCm39) splice site probably benign
IGL01365:Ttll9 APN 2 152,842,054 (GRCm39) missense possibly damaging 0.87
IGL01751:Ttll9 APN 2 152,825,025 (GRCm39) missense probably damaging 0.99
IGL02264:Ttll9 APN 2 152,842,055 (GRCm39) missense probably damaging 1.00
IGL02477:Ttll9 APN 2 152,842,117 (GRCm39) missense possibly damaging 0.77
IGL02899:Ttll9 APN 2 152,844,871 (GRCm39) missense probably damaging 0.99
BB001:Ttll9 UTSW 2 152,804,407 (GRCm39) unclassified probably benign
BB011:Ttll9 UTSW 2 152,804,407 (GRCm39) unclassified probably benign
I2288:Ttll9 UTSW 2 152,814,259 (GRCm39) splice site probably benign
R0053:Ttll9 UTSW 2 152,804,426 (GRCm39) utr 5 prime probably benign
R0116:Ttll9 UTSW 2 152,825,054 (GRCm39) missense probably damaging 0.99
R0319:Ttll9 UTSW 2 152,842,018 (GRCm39) splice site probably null
R0388:Ttll9 UTSW 2 152,842,099 (GRCm39) missense probably benign
R0556:Ttll9 UTSW 2 152,815,526 (GRCm39) critical splice donor site probably null
R0689:Ttll9 UTSW 2 152,825,047 (GRCm39) missense probably benign 0.05
R1829:Ttll9 UTSW 2 152,842,156 (GRCm39) missense possibly damaging 0.61
R2016:Ttll9 UTSW 2 152,844,214 (GRCm39) missense probably damaging 1.00
R2144:Ttll9 UTSW 2 152,844,927 (GRCm39) missense probably benign
R2229:Ttll9 UTSW 2 152,824,983 (GRCm39) missense probably damaging 0.98
R2309:Ttll9 UTSW 2 152,826,065 (GRCm39) missense probably damaging 1.00
R2314:Ttll9 UTSW 2 152,825,047 (GRCm39) missense probably benign 0.05
R4191:Ttll9 UTSW 2 152,844,927 (GRCm39) missense probably benign
R4539:Ttll9 UTSW 2 152,836,011 (GRCm39) missense probably damaging 1.00
R4866:Ttll9 UTSW 2 152,844,920 (GRCm39) missense probably benign 0.02
R5115:Ttll9 UTSW 2 152,831,510 (GRCm39) intron probably benign
R5342:Ttll9 UTSW 2 152,833,572 (GRCm39) missense possibly damaging 0.87
R5375:Ttll9 UTSW 2 152,826,144 (GRCm39) missense probably benign 0.13
R5417:Ttll9 UTSW 2 152,844,912 (GRCm39) missense probably benign
R5555:Ttll9 UTSW 2 152,832,020 (GRCm39) critical splice donor site probably null
R5574:Ttll9 UTSW 2 152,826,168 (GRCm39) missense possibly damaging 0.90
R5598:Ttll9 UTSW 2 152,826,234 (GRCm39) missense probably damaging 1.00
R5613:Ttll9 UTSW 2 152,815,521 (GRCm39) frame shift probably null
R6366:Ttll9 UTSW 2 152,833,525 (GRCm39) missense probably damaging 0.99
R6409:Ttll9 UTSW 2 152,841,261 (GRCm39) missense probably damaging 1.00
R6655:Ttll9 UTSW 2 152,842,223 (GRCm39) splice site probably null
R6657:Ttll9 UTSW 2 152,826,182 (GRCm39) missense probably damaging 1.00
R6766:Ttll9 UTSW 2 152,841,220 (GRCm39) nonsense probably null
R7012:Ttll9 UTSW 2 152,844,982 (GRCm39) missense possibly damaging 0.46
R7162:Ttll9 UTSW 2 152,831,523 (GRCm39) missense probably damaging 0.99
R7804:Ttll9 UTSW 2 152,844,278 (GRCm39) critical splice donor site probably null
R7862:Ttll9 UTSW 2 152,848,895 (GRCm39) missense probably benign 0.00
R7924:Ttll9 UTSW 2 152,804,407 (GRCm39) unclassified probably benign
R7998:Ttll9 UTSW 2 152,833,546 (GRCm39) missense possibly damaging 0.55
R8041:Ttll9 UTSW 2 152,844,956 (GRCm39) missense possibly damaging 0.62
R8367:Ttll9 UTSW 2 152,836,068 (GRCm39) missense probably benign
R8897:Ttll9 UTSW 2 152,844,841 (GRCm39) missense probably damaging 0.99
R9061:Ttll9 UTSW 2 152,818,113 (GRCm39) missense possibly damaging 0.46
R9667:Ttll9 UTSW 2 152,831,989 (GRCm39) nonsense probably null
R9716:Ttll9 UTSW 2 152,818,136 (GRCm39) missense probably benign 0.00
R9780:Ttll9 UTSW 2 152,836,023 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GCAACTCTTCCAAGATCCTTGC -3'
(R):5'- CTCAGTAAATTCCCGCCAGC -3'

Sequencing Primer
(F):5'- CCAAGATCCTTGCTTGGGTCAG -3'
(R):5'- TGTATGTGGCGCACGGC -3'
Posted On 2016-07-22