Incidental Mutation 'R8130:Ttll6'
ID 631985
Institutional Source Beutler Lab
Gene Symbol Ttll6
Ensembl Gene ENSMUSG00000038756
Gene Name tubulin tyrosine ligase-like family, member 6
Synonyms t8130b59, 4932418K24Rik, D11Moh44e, D11Moh43e
MMRRC Submission 067559-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8130 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 96024612-96056277 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96047425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 675 (S675P)
Ref Sequence ENSEMBL: ENSMUSP00000127778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107680] [ENSMUST00000167258]
AlphaFold A4Q9E8
Predicted Effect probably benign
Transcript: ENSMUST00000107680
AA Change: S571P

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756
AA Change: S571P

DomainStartEndE-ValueType
Pfam:TTL 1 293 4.4e-90 PFAM
coiled coil region 376 402 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167258
AA Change: S675P

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: S675P

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
low complexity region 52 59 N/A INTRINSIC
Pfam:TTL 103 397 2.9e-90 PFAM
coiled coil region 480 506 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.1%
  • 20x: 97.3%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,271 (GRCm39) I130M probably damaging Het
4921539E11Rik T C 4: 103,092,895 (GRCm39) D142G probably damaging Het
Abcb10 C T 8: 124,691,757 (GRCm39) A403T Het
Arfgef2 T A 2: 166,678,170 (GRCm39) S218T possibly damaging Het
Armc8 C T 9: 99,433,600 (GRCm39) V40I probably benign Het
Caps2 A T 10: 112,018,381 (GRCm39) D177V probably benign Het
Cdh8 A T 8: 99,757,676 (GRCm39) F641I probably damaging Het
Cemip T C 7: 83,596,384 (GRCm39) S1127G probably benign Het
Cmtm1 C A 8: 105,036,088 (GRCm39) Q180H unknown Het
Col15a1 C T 4: 47,312,196 (GRCm39) T1337I probably damaging Het
Col18a1 A T 10: 76,910,284 (GRCm39) M555K probably benign Het
Ctrb1 A G 8: 112,415,823 (GRCm39) F89L possibly damaging Het
Disp1 T C 1: 182,917,199 (GRCm39) T76A probably benign Het
Dpep1 T C 8: 123,926,965 (GRCm39) V263A probably damaging Het
Dysf G A 6: 84,114,358 (GRCm39) E1216K probably damaging Het
F830016B08Rik A G 18: 60,433,052 (GRCm39) Y45C probably benign Het
Fam186a CGG CG 15: 99,841,914 (GRCm39) probably null Het
Gcm1 T A 9: 77,971,816 (GRCm39) D252E probably benign Het
Gm11559 A G 11: 99,755,416 (GRCm39) T22A unknown Het
Gm4847 C T 1: 166,465,917 (GRCm39) R224Q probably damaging Het
Hypk A G 2: 121,286,859 (GRCm39) probably benign Het
I830077J02Rik C T 3: 105,834,233 (GRCm39) C64Y possibly damaging Het
Igkv4-86 T C 6: 68,887,650 (GRCm39) I30V probably benign Het
Il17ra A G 6: 120,455,416 (GRCm39) I342V probably benign Het
Kcnip3 C T 2: 127,352,828 (GRCm39) A64T possibly damaging Het
Kdm5d T A Y: 940,658 (GRCm39) D1056E possibly damaging Het
Kif19b C T 5: 140,460,716 (GRCm39) R461C probably damaging Het
Krtap19-2 C T 16: 88,670,903 (GRCm39) G81R unknown Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lpin1 A T 12: 16,629,965 (GRCm39) I69N Het
Matcap1 G A 8: 106,012,145 (GRCm39) R101W probably benign Het
Mki67 C T 7: 135,299,293 (GRCm39) D1914N probably damaging Het
Mmrn1 A T 6: 60,937,707 (GRCm39) Q235L probably damaging Het
Mndal T A 1: 173,699,111 (GRCm39) K185* probably null Het
Muc6 T C 7: 141,233,354 (GRCm39) T802A probably damaging Het
Necab1 A T 4: 15,005,073 (GRCm39) F130L probably damaging Het
Nemf A T 12: 69,402,826 (GRCm39) M70K possibly damaging Het
Nploc4 A G 11: 120,280,240 (GRCm39) I436T possibly damaging Het
Obscn C A 11: 59,015,439 (GRCm39) R1011M probably damaging Het
Or4k44 A T 2: 111,367,825 (GRCm39) F270I probably damaging Het
Or5aq1b T C 2: 86,901,570 (GRCm39) K303E probably benign Het
Or8k24 T A 2: 86,215,911 (GRCm39) M284L probably benign Het
Ormdl1 T A 1: 53,338,139 (GRCm39) M1K probably null Het
Pramel34 A T 5: 93,784,597 (GRCm39) L289Q probably damaging Het
Psmb3 A G 11: 97,594,723 (GRCm39) D38G probably benign Het
Psme4 T A 11: 30,792,026 (GRCm39) L1171Q probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Slc22a18 G A 7: 143,052,911 (GRCm39) V379I probably damaging Het
Speg T A 1: 75,392,240 (GRCm39) F1632L probably damaging Het
Taok1 G A 11: 77,470,659 (GRCm39) R49C possibly damaging Het
Usp8 A T 2: 126,559,918 (GRCm39) probably benign Het
Vmn2r81 T A 10: 79,110,538 (GRCm39) N550K possibly damaging Het
Zfp119a A T 17: 56,172,971 (GRCm39) C291S probably damaging Het
Zfp329 C A 7: 12,544,313 (GRCm39) G404C probably damaging Het
Zfp934 C A 13: 62,667,985 (GRCm39) probably null Het
Other mutations in Ttll6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Ttll6 APN 11 96,026,366 (GRCm39) nonsense probably null
IGL02331:Ttll6 APN 11 96,026,573 (GRCm39) missense probably damaging 1.00
IGL02490:Ttll6 APN 11 96,047,546 (GRCm39) missense possibly damaging 0.55
IGL02551:Ttll6 APN 11 96,045,526 (GRCm39) missense probably benign 0.00
IGL02618:Ttll6 APN 11 96,038,388 (GRCm39) missense probably benign 0.04
IGL02712:Ttll6 APN 11 96,030,601 (GRCm39) critical splice donor site probably benign
IGL02720:Ttll6 APN 11 96,042,899 (GRCm39) critical splice donor site probably null
IGL02839:Ttll6 APN 11 96,049,646 (GRCm39) missense probably damaging 1.00
IGL02974:Ttll6 APN 11 96,047,528 (GRCm39) missense probably benign 0.06
IGL03038:Ttll6 APN 11 96,042,786 (GRCm39) missense probably damaging 1.00
IGL03216:Ttll6 APN 11 96,042,840 (GRCm39) missense probably benign 0.00
IGL03271:Ttll6 APN 11 96,047,513 (GRCm39) missense probably benign 0.00
LCD18:Ttll6 UTSW 11 96,046,084 (GRCm39) intron probably benign
R0295:Ttll6 UTSW 11 96,045,540 (GRCm39) missense probably benign 0.09
R0310:Ttll6 UTSW 11 96,038,382 (GRCm39) missense probably benign 0.41
R0466:Ttll6 UTSW 11 96,036,417 (GRCm39) missense probably damaging 1.00
R0533:Ttll6 UTSW 11 96,045,582 (GRCm39) missense probably benign 0.00
R1195:Ttll6 UTSW 11 96,026,555 (GRCm39) missense probably damaging 1.00
R1195:Ttll6 UTSW 11 96,026,555 (GRCm39) missense probably damaging 1.00
R1195:Ttll6 UTSW 11 96,026,555 (GRCm39) missense probably damaging 1.00
R1453:Ttll6 UTSW 11 96,049,714 (GRCm39) missense possibly damaging 0.82
R1555:Ttll6 UTSW 11 96,036,408 (GRCm39) missense probably damaging 1.00
R1860:Ttll6 UTSW 11 96,029,700 (GRCm39) nonsense probably null
R1861:Ttll6 UTSW 11 96,029,700 (GRCm39) nonsense probably null
R1998:Ttll6 UTSW 11 96,030,601 (GRCm39) critical splice donor site probably null
R2034:Ttll6 UTSW 11 96,026,352 (GRCm39) missense probably damaging 0.99
R2126:Ttll6 UTSW 11 96,038,358 (GRCm39) missense probably damaging 1.00
R3722:Ttll6 UTSW 11 96,024,747 (GRCm39) missense probably benign 0.00
R4684:Ttll6 UTSW 11 96,044,003 (GRCm39) missense probably benign
R4747:Ttll6 UTSW 11 96,036,372 (GRCm39) missense possibly damaging 0.46
R4771:Ttll6 UTSW 11 96,024,655 (GRCm39) missense possibly damaging 0.53
R4955:Ttll6 UTSW 11 96,029,615 (GRCm39) missense possibly damaging 0.87
R5042:Ttll6 UTSW 11 96,045,430 (GRCm39) missense possibly damaging 0.95
R5910:Ttll6 UTSW 11 96,026,415 (GRCm39) missense possibly damaging 0.90
R5951:Ttll6 UTSW 11 96,036,336 (GRCm39) missense probably damaging 1.00
R6033:Ttll6 UTSW 11 96,025,713 (GRCm39) missense probably damaging 1.00
R6033:Ttll6 UTSW 11 96,025,713 (GRCm39) missense probably damaging 1.00
R6134:Ttll6 UTSW 11 96,030,568 (GRCm39) missense possibly damaging 0.69
R6263:Ttll6 UTSW 11 96,047,371 (GRCm39) missense probably benign
R6325:Ttll6 UTSW 11 96,026,331 (GRCm39) missense probably damaging 1.00
R6395:Ttll6 UTSW 11 96,047,414 (GRCm39) missense probably benign 0.05
R6453:Ttll6 UTSW 11 96,049,553 (GRCm39) missense probably benign 0.00
R6681:Ttll6 UTSW 11 96,029,689 (GRCm39) missense probably damaging 1.00
R7481:Ttll6 UTSW 11 96,045,672 (GRCm39) missense probably benign
R7574:Ttll6 UTSW 11 96,025,701 (GRCm39) missense probably damaging 0.99
R8771:Ttll6 UTSW 11 96,042,762 (GRCm39) missense probably damaging 1.00
R8887:Ttll6 UTSW 11 96,047,492 (GRCm39) missense possibly damaging 0.69
R9452:Ttll6 UTSW 11 96,026,588 (GRCm39) missense probably damaging 1.00
R9547:Ttll6 UTSW 11 96,049,588 (GRCm39) missense probably benign 0.01
R9581:Ttll6 UTSW 11 96,049,572 (GRCm39) missense probably benign 0.31
X0022:Ttll6 UTSW 11 96,049,567 (GRCm39) missense probably damaging 0.99
Z1176:Ttll6 UTSW 11 96,025,723 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTTTCAGGAGCAAGGAGGGATC -3'
(R):5'- TACTCACGTGACTTGGGAGC -3'

Sequencing Primer
(F):5'- AGGGATCCCTCTGCCTTC -3'
(R):5'- AACAAGGGGCGTTTCTTCTTC -3'
Posted On 2020-06-30