Incidental Mutation 'I2288:Ttll9'
ID7908
Institutional Source Beutler Lab
Gene Symbol Ttll9
Ensembl Gene ENSMUSG00000074673
Gene Nametubulin tyrosine ligase-like family, member 9
Synonyms4930509O20Rik, 1700016F23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #I2288 (G3) of strain 633
Quality Score
Status Validated
Chromosome2
Chromosomal Location152962485-153008482 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 152972339 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099197] [ENSMUST00000103155] [ENSMUST00000109801] [ENSMUST00000146626] [ENSMUST00000152158] [ENSMUST00000155631] [ENSMUST00000165343]
Predicted Effect probably benign
Transcript: ENSMUST00000099197
SMART Domains Protein: ENSMUSP00000096803
Gene: ENSMUSG00000074673

DomainStartEndE-ValueType
Pfam:TTL 69 397 2.2e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103155
SMART Domains Protein: ENSMUSP00000099444
Gene: ENSMUSG00000074673

DomainStartEndE-ValueType
Pfam:TTL 67 397 5.3e-88 PFAM
low complexity region 452 461 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109801
SMART Domains Protein: ENSMUSP00000105426
Gene: ENSMUSG00000074673

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
SMART Domains Protein: ENSMUSP00000114786
Gene: ENSMUSG00000074673

DomainStartEndE-ValueType
Pfam:TTL 57 139 3.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165343
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 84.8%
Validation Efficiency 71% (138/195)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 A T 8: 24,684,661 I696N probably damaging Het
Adgra1 T C 7: 139,852,579 I111T probably damaging Het
Adgrv1 A G 13: 81,437,524 L4607P probably damaging Het
Alppl2 A T 1: 87,088,176 M284K possibly damaging Het
Arfgef1 T C 1: 10,173,253 K1024E probably damaging Het
Arid2 T C 15: 96,369,511 V624A possibly damaging Het
Babam1 G A 8: 71,397,823 R32Q probably damaging Het
Camk1g C T 1: 193,351,106 probably benign Homo
Cfap44 C A 16: 44,449,138 Y1168* probably null Het
Clasp1 A G 1: 118,565,229 H1168R probably benign Het
Crkl A G 16: 17,483,748 T289A probably damaging Het
Dlec1 A G 9: 119,143,601 D1464G probably damaging Het
Dmxl2 A T 9: 54,401,793 H1891Q probably damaging Het
Dnah10 G A 5: 124,730,100 A150T probably benign Het
Dnah8 A G 17: 30,663,454 T667A probably benign Het
Fpr-rs3 A T 17: 20,624,495 L128Q probably damaging Het
Fxn C T 19: 24,262,067 probably benign Homo
Golgb1 A G 16: 36,898,542 H270R probably benign Het
Gramd1b T C 9: 40,306,805 I572V probably damaging Het
Iqch A T 9: 63,500,890 I664K probably benign Het
Kcnn2 T A 18: 45,675,273 probably benign Het
Lrp1b A T 2: 41,122,932 I2001K probably damaging Het
Lrrc40 T A 3: 158,052,789 I277K probably damaging Het
Myo1e A G 9: 70,342,097 E493G possibly damaging Homo
Nrcam C A 12: 44,564,315 H567Q probably benign Homo
Olfr1152 T A 2: 87,868,135 I48N probably damaging Het
Olfr1350 A T 7: 6,570,819 Y276F probably damaging Homo
Olfr653 T C 7: 104,580,386 C247R probably damaging Het
Parvg C A 15: 84,328,780 probably benign Het
Ripk4 A G 16: 97,748,145 V237A probably benign Het
Spam1 A G 6: 24,796,478 I143V probably benign Het
Synj2 A G 17: 6,022,267 probably benign Het
Taar4 A G 10: 23,960,920 T143A probably benign Het
Ttc12 T A 9: 49,470,258 M138L possibly damaging Het
Usp34 T A 11: 23,432,473 probably benign Homo
Utrn A G 10: 12,421,640 Y675H probably damaging Het
Other mutations in Ttll9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00714:Ttll9 APN 2 152984260 missense probably damaging 0.99
IGL01107:Ttll9 APN 2 153002889 splice site probably benign
IGL01365:Ttll9 APN 2 153000134 missense possibly damaging 0.87
IGL01751:Ttll9 APN 2 152983105 missense probably damaging 0.99
IGL02264:Ttll9 APN 2 153000135 missense probably damaging 1.00
IGL02477:Ttll9 APN 2 153000197 missense possibly damaging 0.77
IGL02899:Ttll9 APN 2 153002951 missense probably damaging 0.99
BB001:Ttll9 UTSW 2 152962487 unclassified probably benign
BB011:Ttll9 UTSW 2 152962487 unclassified probably benign
R0053:Ttll9 UTSW 2 152962506 utr 5 prime probably benign
R0116:Ttll9 UTSW 2 152983134 missense probably damaging 0.99
R0319:Ttll9 UTSW 2 153000098 splice site probably null
R0388:Ttll9 UTSW 2 153000179 missense probably benign
R0556:Ttll9 UTSW 2 152973606 critical splice donor site probably null
R0689:Ttll9 UTSW 2 152983127 missense probably benign 0.05
R1829:Ttll9 UTSW 2 153000236 missense possibly damaging 0.61
R2016:Ttll9 UTSW 2 153002294 missense probably damaging 1.00
R2144:Ttll9 UTSW 2 153003007 missense probably benign
R2229:Ttll9 UTSW 2 152983063 missense probably damaging 0.98
R2309:Ttll9 UTSW 2 152984145 missense probably damaging 1.00
R2314:Ttll9 UTSW 2 152983127 missense probably benign 0.05
R4191:Ttll9 UTSW 2 153003007 missense probably benign
R4539:Ttll9 UTSW 2 152994091 missense probably damaging 1.00
R4866:Ttll9 UTSW 2 153003000 missense probably benign 0.02
R5115:Ttll9 UTSW 2 152989590 intron probably benign
R5279:Ttll9 UTSW 2 152962544 missense possibly damaging 0.80
R5342:Ttll9 UTSW 2 152991652 missense possibly damaging 0.87
R5375:Ttll9 UTSW 2 152984224 missense probably benign 0.13
R5417:Ttll9 UTSW 2 153002992 missense probably benign
R5555:Ttll9 UTSW 2 152990100 critical splice donor site probably null
R5574:Ttll9 UTSW 2 152984248 missense possibly damaging 0.90
R5598:Ttll9 UTSW 2 152984314 missense probably damaging 1.00
R5613:Ttll9 UTSW 2 152973601 frame shift probably null
R6366:Ttll9 UTSW 2 152991605 missense probably damaging 0.99
R6409:Ttll9 UTSW 2 152999341 missense probably damaging 1.00
R6655:Ttll9 UTSW 2 153000303 splice site probably null
R6657:Ttll9 UTSW 2 152984262 missense probably damaging 1.00
R6766:Ttll9 UTSW 2 152999300 nonsense probably null
R7012:Ttll9 UTSW 2 153003062 missense possibly damaging 0.46
R7162:Ttll9 UTSW 2 152989603 missense probably damaging 0.99
R7804:Ttll9 UTSW 2 153002358 critical splice donor site probably null
R7862:Ttll9 UTSW 2 153006975 missense probably benign 0.00
R7924:Ttll9 UTSW 2 152962487 unclassified probably benign
R7998:Ttll9 UTSW 2 152991626 missense possibly damaging 0.55
R8041:Ttll9 UTSW 2 153003036 missense possibly damaging 0.62
R8367:Ttll9 UTSW 2 152994148 missense probably benign
Posted On2012-11-13