Incidental Mutation 'R5375:Ttll9'
ID 428992
Institutional Source Beutler Lab
Gene Symbol Ttll9
Ensembl Gene ENSMUSG00000074673
Gene Name tubulin tyrosine ligase-like family, member 9
Synonyms 4930509O20Rik, 1700016F23Rik
MMRRC Submission 042951-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R5375 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 152804405-152850402 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 152826144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 118 (C118F)
Ref Sequence ENSEMBL: ENSMUSP00000099444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099197] [ENSMUST00000103155] [ENSMUST00000109801] [ENSMUST00000146626] [ENSMUST00000152158] [ENSMUST00000155631] [ENSMUST00000165343]
AlphaFold A2APC3
Predicted Effect probably benign
Transcript: ENSMUST00000099197
AA Change: C118F

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673
AA Change: C118F

DomainStartEndE-ValueType
Pfam:TTL 69 397 2.2e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103155
AA Change: C118F

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673
AA Change: C118F

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: C118F

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673
AA Change: C118F

DomainStartEndE-ValueType
Pfam:TTL 68 222 4.8e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146626
Predicted Effect probably benign
Transcript: ENSMUST00000152158
Predicted Effect probably benign
Transcript: ENSMUST00000155631
AA Change: C107F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000114786
Gene: ENSMUSG00000074673
AA Change: C107F

DomainStartEndE-ValueType
Pfam:TTL 57 139 3.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165343
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 T A 12: 4,260,870 (GRCm39) N995K probably damaging Het
Aldh4a1 T C 4: 139,361,233 (GRCm39) M60T probably benign Het
Alpk2 A T 18: 65,505,809 (GRCm39) H70Q probably damaging Het
Babam2 T A 5: 31,859,207 (GRCm39) I5N possibly damaging Het
Blm T C 7: 80,162,977 (GRCm39) T125A probably benign Het
Bloc1s1 T C 10: 128,759,826 (GRCm39) probably benign Het
Calcr G T 6: 3,714,651 (GRCm39) Q160K probably benign Het
Ccdc43 C T 11: 102,581,058 (GRCm39) A131T probably damaging Het
Cdh15 A T 8: 123,591,839 (GRCm39) N575Y probably damaging Het
Chd8 T C 14: 52,441,611 (GRCm39) D827G probably damaging Het
Col3a1 A G 1: 45,387,059 (GRCm39) probably null Het
Creb5 A T 6: 53,658,002 (GRCm39) M255L possibly damaging Het
Cst8 A G 2: 148,646,503 (GRCm39) I78V probably benign Het
Cyld A G 8: 89,459,664 (GRCm39) E440G possibly damaging Het
Cyp2b9 A C 7: 25,887,167 (GRCm39) D192A probably damaging Het
Dclre1b C T 3: 103,711,290 (GRCm39) R207H probably damaging Het
Dnah6 A T 6: 73,100,838 (GRCm39) F1936L probably damaging Het
Dpp9 A C 17: 56,496,424 (GRCm39) Y761* probably null Het
Drc1 A T 5: 30,513,745 (GRCm39) M434L probably benign Het
Dtx3l A T 16: 35,753,397 (GRCm39) I403N probably damaging Het
Ecpas T A 4: 58,809,401 (GRCm39) K1658* probably null Het
Efcab9 A G 11: 32,477,484 (GRCm39) Y13H probably damaging Het
Efhb T A 17: 53,708,654 (GRCm39) N672I possibly damaging Het
Eif5b T C 1: 38,084,835 (GRCm39) V894A possibly damaging Het
Elovl3 T C 19: 46,123,135 (GRCm39) F237S probably benign Het
Emc1 T A 4: 139,093,802 (GRCm39) D637E probably damaging Het
Erbb2 C A 11: 98,324,238 (GRCm39) P742Q probably damaging Het
Fam234b C A 6: 135,210,355 (GRCm39) L584M probably damaging Het
Fancd2 A T 6: 113,545,673 (GRCm39) D14V possibly damaging Het
Fat2 T C 11: 55,153,646 (GRCm39) H3522R probably benign Het
Fgfr2 T C 7: 129,842,945 (GRCm39) N147D possibly damaging Het
Gm26657 A G 4: 56,741,180 (GRCm39) probably benign Het
Hcrtr1 C T 4: 130,029,518 (GRCm39) V188M probably benign Het
Herc1 T C 9: 66,375,169 (GRCm39) V3331A probably damaging Het
Hmcn2 T C 2: 31,320,453 (GRCm39) V3978A possibly damaging Het
Invs G A 4: 48,385,262 (GRCm39) R202K probably benign Het
Lgr5 C T 10: 115,314,469 (GRCm39) S156N probably benign Het
Mras T G 9: 99,276,669 (GRCm39) D67A probably damaging Het
Mrpl39 A G 16: 84,520,790 (GRCm39) L283P probably damaging Het
Ncoa6 A T 2: 155,275,915 (GRCm39) I110N probably benign Het
Neb T C 2: 52,102,596 (GRCm39) D544G possibly damaging Het
Nlrc3 A G 16: 3,782,617 (GRCm39) I264T possibly damaging Het
Or10a2 T A 7: 106,673,080 (GRCm39) M15K probably benign Het
Or1j13 A G 2: 36,369,309 (GRCm39) Y278H probably damaging Het
Or5k16 T C 16: 58,736,248 (GRCm39) Y252C possibly damaging Het
Or7g18 A G 9: 18,787,442 (GRCm39) K273R probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Phf11d T C 14: 59,590,120 (GRCm39) D234G probably null Het
Polq A T 16: 36,903,146 (GRCm39) D1980V probably damaging Het
Rasa1 A T 13: 85,437,022 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec23a A G 12: 59,053,791 (GRCm39) V69A probably benign Het
Sipa1 A G 19: 5,709,640 (GRCm39) I260T probably damaging Het
Smarcc1 T A 9: 110,020,017 (GRCm39) L628H probably damaging Het
Snx31 A G 15: 36,525,730 (GRCm39) V323A probably damaging Het
Sun2 A G 15: 79,611,723 (GRCm39) S565P probably damaging Het
Tmem74 C T 15: 43,730,564 (GRCm39) D160N possibly damaging Het
Tnik T C 3: 28,648,241 (GRCm39) M431T probably benign Het
Trp53inp1 A G 4: 11,165,305 (GRCm39) T110A probably benign Het
Vps4b A G 1: 106,719,422 (GRCm39) L42P probably benign Het
Xirp2 A T 2: 67,342,250 (GRCm39) N1497I probably damaging Het
Xpo4 A G 14: 57,875,764 (GRCm39) V123A probably damaging Het
Zfhx4 A T 3: 5,477,485 (GRCm39) T3367S probably damaging Het
Zfp236 T C 18: 82,615,813 (GRCm39) E1782G possibly damaging Het
Zfp35 T A 18: 24,135,973 (GRCm39) C106S possibly damaging Het
Zfpm1 A G 8: 123,062,812 (GRCm39) T624A probably benign Het
Zmiz2 C T 11: 6,347,519 (GRCm39) Q276* probably null 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
R5279:Ttll9 UTSW 2 152,804,464 (GRCm39) missense possibly damaging 0.80
R5342:Ttll9 UTSW 2 152,833,572 (GRCm39) missense possibly damaging 0.87
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'- TCGTGTCCTCAGTCATCGTG -3'
(R):5'- GGTTCAGCTTTGATACTGGGCC -3'

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