Incidental Mutation 'R0153:Ttll5'
ID 22857
Institutional Source Beutler Lab
Gene Symbol Ttll5
Ensembl Gene ENSMUSG00000012609
Gene Name tubulin tyrosine ligase-like family, member 5
Synonyms 1700048H13Rik, D630041K24Rik, STAMP, 2310009M18Rik, 4930556H18Rik
MMRRC Submission 038436-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.716) question?
Stock # R0153 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 12
Chromosomal Location 85871417-86100534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85878740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 49 (I49N)
Ref Sequence ENSEMBL: ENSMUSP00000135139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040179] [ENSMUST00000040273] [ENSMUST00000095536] [ENSMUST00000110220] [ENSMUST00000110224] [ENSMUST00000142411] [ENSMUST00000177114] [ENSMUST00000153570] [ENSMUST00000177188] [ENSMUST00000176695] [ENSMUST00000155448]
AlphaFold Q8CHB8
Predicted Effect possibly damaging
Transcript: ENSMUST00000040179
AA Change: I49N

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: I49N

DomainStartEndE-ValueType
Pfam:TTL 110 407 1.9e-94 PFAM
low complexity region 556 575 N/A INTRINSIC
low complexity region 595 621 N/A INTRINSIC
low complexity region 747 761 N/A INTRINSIC
low complexity region 781 793 N/A INTRINSIC
low complexity region 835 847 N/A INTRINSIC
low complexity region 1167 1181 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040273
AA Change: I49N

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: I49N

DomainStartEndE-ValueType
Pfam:TTL 110 407 1e-94 PFAM
low complexity region 556 575 N/A INTRINSIC
low complexity region 595 621 N/A INTRINSIC
low complexity region 747 761 N/A INTRINSIC
low complexity region 781 793 N/A INTRINSIC
low complexity region 835 847 N/A INTRINSIC
low complexity region 1167 1181 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095536
AA Change: I49N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000093192
Gene: ENSMUSG00000012609
AA Change: I49N

DomainStartEndE-ValueType
Pfam:TTL 110 407 2.2e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110220
AA Change: I49N

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000105849
Gene: ENSMUSG00000012609
AA Change: I49N

DomainStartEndE-ValueType
Pfam:TTL 110 348 3.5e-72 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110224
AA Change: I49N

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: I49N

DomainStartEndE-ValueType
Pfam:TTL 110 407 1e-94 PFAM
low complexity region 543 562 N/A INTRINSIC
low complexity region 582 608 N/A INTRINSIC
low complexity region 734 748 N/A INTRINSIC
low complexity region 768 780 N/A INTRINSIC
low complexity region 822 834 N/A INTRINSIC
low complexity region 1153 1167 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124701
Predicted Effect possibly damaging
Transcript: ENSMUST00000142411
AA Change: I49N

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000177114
AA Change: I49N

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000135395
Gene: ENSMUSG00000012609
AA Change: I49N

DomainStartEndE-ValueType
Pfam:TTL 110 407 2.1e-95 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153570
AA Change: I49N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000177188
AA Change: I49N

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134928
Gene: ENSMUSG00000012609
AA Change: I49N

DomainStartEndE-ValueType
Pfam:TTL 110 175 4.9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176695
AA Change: I49N

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000135852
Gene: ENSMUSG00000012609
AA Change: I49N

DomainStartEndE-ValueType
Pfam:TTL 110 407 2.1e-95 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155448
AA Change: I49N

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134971
Gene: ENSMUSG00000012609
AA Change: I49N

DomainStartEndE-ValueType
Pfam:TTL 110 407 6.4e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176008
Meta Mutation Damage Score 0.6949 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
Validation Efficiency 97% (99/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit male infertility associated with abnormal sperm morphology and reduced tubulin polyglutamylation in the spermatozoa. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted, other(3) Gene trapped(4)

Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,218,119 (GRCm39) M406V probably benign Het
Adar T C 3: 89,638,121 (GRCm39) S2P probably benign Het
Adgre1 T A 17: 57,750,939 (GRCm39) S538T possibly damaging Het
Alms1 T A 6: 85,618,363 (GRCm39) I2803N possibly damaging Het
Amn1 G T 6: 149,090,091 (GRCm39) probably benign Het
Arid1b G A 17: 5,393,207 (GRCm39) A2246T probably damaging Het
BC024139 T C 15: 76,005,947 (GRCm39) E418G probably damaging Het
Bok A G 1: 93,614,239 (GRCm39) D24G probably damaging Het
Cabp2 T C 19: 4,134,913 (GRCm39) probably benign Het
Ccdc141 C A 2: 76,995,582 (GRCm39) probably benign Het
Ccdc178 T C 18: 22,283,492 (GRCm39) T13A probably benign Het
Ccdc42 G T 11: 68,478,476 (GRCm39) V33F possibly damaging Het
Clcn7 G A 17: 25,368,176 (GRCm39) probably benign Het
Cluh A G 11: 74,548,176 (GRCm39) probably benign Het
Cr1l A T 1: 194,797,164 (GRCm39) probably benign Het
Cracdl A G 1: 37,663,720 (GRCm39) V726A probably benign Het
Csnk1g3 T A 18: 54,051,861 (GRCm39) probably benign Het
Depdc5 T C 5: 33,091,281 (GRCm39) probably benign Het
Dgkh A C 14: 78,807,569 (GRCm39) Y1149* probably null Het
Dipk2a G T 9: 94,406,533 (GRCm39) D291E probably benign Het
Dnai1 A G 4: 41,635,162 (GRCm39) probably benign Het
Dync2i1 A G 12: 116,196,256 (GRCm39) V497A probably benign Het
Efcab2 A G 1: 178,302,451 (GRCm39) E65G possibly damaging Het
Eif4a3l1 A T 6: 136,305,842 (GRCm39) D101V probably damaging Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fgfr4 A G 13: 55,309,198 (GRCm39) probably benign Het
Garin5b A T 7: 4,773,286 (GRCm39) L177Q probably damaging Het
Gm10720 A C 9: 3,015,787 (GRCm39) S44R probably null Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm6471 A T 7: 142,385,368 (GRCm39) noncoding transcript Het
Hnrnpm C T 17: 33,865,489 (GRCm39) R724Q probably damaging Het
Homer1 C T 13: 93,528,254 (GRCm39) T117I possibly damaging Het
Hoxd4 A T 2: 74,557,801 (GRCm39) Q60L probably damaging Het
Ift172 T C 5: 31,417,968 (GRCm39) R1274G probably benign Het
Ino80d A G 1: 63,097,477 (GRCm39) S806P probably damaging Het
Itga10 T C 3: 96,561,016 (GRCm39) V627A probably benign Het
Itgb2l A G 16: 96,238,569 (GRCm39) Y77H possibly damaging Het
Kel A T 6: 41,678,877 (GRCm39) H195Q probably benign Het
Klhdc7a A G 4: 139,694,582 (GRCm39) S122P possibly damaging Het
Krt71 T A 15: 101,643,141 (GRCm39) I456F possibly damaging Het
Lats1 T A 10: 7,567,339 (GRCm39) S37T probably damaging Het
Lrp1b T A 2: 41,013,031 (GRCm39) H1858L possibly damaging Het
Matk A T 10: 81,098,676 (GRCm39) T461S probably benign Het
Meikin A G 11: 54,300,468 (GRCm39) probably benign Het
Muc6 T C 7: 141,214,029 (GRCm39) Q2832R possibly damaging Het
Myo10 T C 15: 25,781,324 (GRCm39) F194L possibly damaging Het
Nbas G A 12: 13,323,877 (GRCm39) probably benign Het
Nme4 A G 17: 26,312,831 (GRCm39) probably null Het
Or13p8 A T 4: 118,583,530 (GRCm39) I29F possibly damaging Het
Or4c112 T A 2: 88,853,540 (GRCm39) N269I probably benign Het
Or5w13 A G 2: 87,523,948 (GRCm39) S93P probably benign Het
Or7g32 T A 9: 19,408,233 (GRCm39) L63H probably damaging Het
Or8g34 T C 9: 39,372,967 (GRCm39) V80A probably damaging Het
Pacsin2 T C 15: 83,261,862 (GRCm39) Q473R probably benign Het
Patz1 A G 11: 3,243,288 (GRCm39) H427R probably damaging Het
Pkp3 A G 7: 140,663,256 (GRCm39) Y367C probably damaging Het
Prdm2 G A 4: 142,860,338 (GRCm39) P984L possibly damaging Het
Rev3l T A 10: 39,750,124 (GRCm39) C3091* probably null Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rpl5 T C 5: 108,052,623 (GRCm39) F140L probably benign Het
Sec24a A C 11: 51,591,653 (GRCm39) I1014M probably benign Het
Serpinb11 A G 1: 107,299,933 (GRCm39) H93R probably benign Het
Shank2 C A 7: 143,623,872 (GRCm39) H286N probably benign Het
Sipa1l2 G T 8: 126,148,637 (GRCm39) Q1651K probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc30a5 A T 13: 100,963,002 (GRCm39) F75L possibly damaging Het
Slco1a1 G T 6: 141,856,427 (GRCm39) probably benign Het
Smg5 C T 3: 88,261,179 (GRCm39) probably benign Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Taf8 A T 17: 47,809,177 (GRCm39) probably benign Het
Tars3 A G 7: 65,333,829 (GRCm39) D617G probably damaging Het
Tbc1d5 A T 17: 51,291,715 (GRCm39) probably benign Het
Tfcp2 C G 15: 100,412,708 (GRCm39) E315Q probably damaging Het
Tmf1 A T 6: 97,147,345 (GRCm39) S540R probably damaging Het
Tmprss4 T C 9: 45,095,634 (GRCm39) Q70R probably benign Het
Trip13 G T 13: 74,068,183 (GRCm39) A266E possibly damaging Het
Ttc24 T A 3: 87,982,234 (GRCm39) probably benign Het
Tut7 G A 13: 59,930,150 (GRCm39) R962* probably null Het
Ube2ql1 A T 13: 69,886,711 (GRCm39) M250K possibly damaging Het
Vmn1r87 A T 7: 12,866,211 (GRCm39) D25E probably damaging Het
Vmn2r84 A G 10: 130,227,877 (GRCm39) Y120H probably benign Het
Wdr6 G A 9: 108,452,441 (GRCm39) R481C probably damaging Het
Zdhhc17 A T 10: 110,790,955 (GRCm39) Y371* probably null Het
Zfp292 T C 4: 34,811,185 (GRCm39) N620D probably benign Het
Zfp932 T A 5: 110,154,834 (GRCm39) Y11N probably benign Het
Other mutations in Ttll5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Ttll5 APN 12 85,890,600 (GRCm39) missense probably damaging 1.00
IGL00932:Ttll5 APN 12 85,976,681 (GRCm39) missense probably damaging 1.00
IGL00964:Ttll5 APN 12 85,896,057 (GRCm39) missense possibly damaging 0.78
IGL00978:Ttll5 APN 12 85,980,256 (GRCm39) nonsense probably null
IGL00990:Ttll5 APN 12 85,923,363 (GRCm39) missense probably damaging 1.00
IGL01726:Ttll5 APN 12 85,965,708 (GRCm39) missense probably benign 0.30
IGL01797:Ttll5 APN 12 86,003,371 (GRCm39) missense possibly damaging 0.54
IGL02008:Ttll5 APN 12 85,980,385 (GRCm39) missense probably damaging 1.00
IGL02210:Ttll5 APN 12 85,959,319 (GRCm39) intron probably benign
IGL02979:Ttll5 APN 12 85,873,356 (GRCm39) missense probably damaging 1.00
IGL03079:Ttll5 APN 12 85,923,332 (GRCm39) missense probably damaging 1.00
IGL03149:Ttll5 APN 12 85,965,758 (GRCm39) missense probably damaging 0.98
G4846:Ttll5 UTSW 12 86,071,018 (GRCm39) missense probably damaging 0.99
PIT4812001:Ttll5 UTSW 12 85,973,635 (GRCm39) missense probably benign 0.12
R0045:Ttll5 UTSW 12 85,926,133 (GRCm39) splice site probably benign
R0282:Ttll5 UTSW 12 86,042,827 (GRCm39) missense probably benign 0.12
R0318:Ttll5 UTSW 12 85,923,368 (GRCm39) critical splice donor site probably null
R0465:Ttll5 UTSW 12 85,980,100 (GRCm39) missense probably benign 0.42
R0540:Ttll5 UTSW 12 85,980,450 (GRCm39) critical splice donor site probably null
R1086:Ttll5 UTSW 12 85,937,853 (GRCm39) missense possibly damaging 0.66
R1467:Ttll5 UTSW 12 85,965,736 (GRCm39) splice site probably null
R1470:Ttll5 UTSW 12 85,926,168 (GRCm39) missense possibly damaging 0.59
R1470:Ttll5 UTSW 12 85,926,168 (GRCm39) missense possibly damaging 0.59
R1505:Ttll5 UTSW 12 85,926,184 (GRCm39) missense probably damaging 1.00
R1524:Ttll5 UTSW 12 85,911,342 (GRCm39) nonsense probably null
R1540:Ttll5 UTSW 12 85,938,982 (GRCm39) nonsense probably null
R1598:Ttll5 UTSW 12 85,910,372 (GRCm39) missense probably damaging 0.98
R1649:Ttll5 UTSW 12 85,969,788 (GRCm39) missense probably damaging 1.00
R1774:Ttll5 UTSW 12 85,980,176 (GRCm39) missense probably benign 0.09
R2340:Ttll5 UTSW 12 85,938,922 (GRCm39) missense probably benign 0.02
R4049:Ttll5 UTSW 12 86,059,573 (GRCm39) missense probably benign 0.01
R4094:Ttll5 UTSW 12 86,003,376 (GRCm39) nonsense probably null
R4095:Ttll5 UTSW 12 86,003,376 (GRCm39) nonsense probably null
R4908:Ttll5 UTSW 12 85,965,948 (GRCm39) missense probably benign 0.31
R5012:Ttll5 UTSW 12 85,973,618 (GRCm39) missense possibly damaging 0.93
R5137:Ttll5 UTSW 12 85,969,819 (GRCm39) missense possibly damaging 0.83
R5416:Ttll5 UTSW 12 86,059,602 (GRCm39) missense possibly damaging 0.77
R5773:Ttll5 UTSW 12 85,980,329 (GRCm39) frame shift probably null
R5774:Ttll5 UTSW 12 85,980,329 (GRCm39) frame shift probably null
R6039:Ttll5 UTSW 12 85,878,729 (GRCm39) missense probably damaging 1.00
R6039:Ttll5 UTSW 12 85,878,729 (GRCm39) missense probably damaging 1.00
R6173:Ttll5 UTSW 12 85,980,151 (GRCm39) missense probably damaging 0.99
R6343:Ttll5 UTSW 12 86,003,473 (GRCm39) missense probably benign 0.00
R6449:Ttll5 UTSW 12 86,071,050 (GRCm39) missense probably benign 0.00
R6750:Ttll5 UTSW 12 86,003,384 (GRCm39) missense probably damaging 0.98
R6802:Ttll5 UTSW 12 85,926,160 (GRCm39) missense probably damaging 1.00
R6825:Ttll5 UTSW 12 85,930,102 (GRCm39) splice site probably null
R6955:Ttll5 UTSW 12 85,911,353 (GRCm39) missense possibly damaging 0.91
R7098:Ttll5 UTSW 12 85,964,447 (GRCm39) critical splice acceptor site probably null
R7154:Ttll5 UTSW 12 85,972,538 (GRCm39) missense probably damaging 0.98
R7215:Ttll5 UTSW 12 85,980,170 (GRCm39) missense probably benign 0.02
R7339:Ttll5 UTSW 12 85,904,238 (GRCm39) critical splice donor site probably null
R7520:Ttll5 UTSW 12 85,946,245 (GRCm39) missense probably damaging 1.00
R7728:Ttll5 UTSW 12 86,003,406 (GRCm39) missense probably benign 0.02
R7894:Ttll5 UTSW 12 85,935,948 (GRCm39) missense probably damaging 1.00
R8119:Ttll5 UTSW 12 86,067,322 (GRCm39) missense probably damaging 0.98
R8129:Ttll5 UTSW 12 85,937,858 (GRCm39) critical splice donor site probably null
R8200:Ttll5 UTSW 12 85,926,184 (GRCm39) missense probably damaging 1.00
R8357:Ttll5 UTSW 12 85,923,352 (GRCm39) missense probably damaging 1.00
R8413:Ttll5 UTSW 12 85,965,895 (GRCm39) missense probably benign 0.00
R8457:Ttll5 UTSW 12 85,923,352 (GRCm39) missense probably damaging 1.00
R9086:Ttll5 UTSW 12 86,071,107 (GRCm39) missense probably benign
R9086:Ttll5 UTSW 12 85,964,516 (GRCm39) missense possibly damaging 0.94
R9265:Ttll5 UTSW 12 85,937,795 (GRCm39) nonsense probably null
R9293:Ttll5 UTSW 12 85,937,806 (GRCm39) missense probably damaging 1.00
R9302:Ttll5 UTSW 12 85,873,338 (GRCm39) missense possibly damaging 0.63
R9621:Ttll5 UTSW 12 85,938,896 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- CCAAGTATGAGGTAGGGACAAGCCATAG -3'
(R):5'- GGACTctctcagaactcaatgaccacaa -3'

Sequencing Primer
(F):5'- AAGCCATAGTCATCTGCTTCAG -3'
(R):5'- tggcagtatagagaggaggg -3'
Posted On 2013-04-16