Incidental Mutation 'R1774:Ttll5'
ID 196957
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 039805-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.716) question?
Stock # R1774 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 85871417-86100534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 85980176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 920 (T920K)
Ref Sequence ENSEMBL: ENSMUSP00000039939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040179] [ENSMUST00000040273] [ENSMUST00000110224] [ENSMUST00000155448] [ENSMUST00000176695] [ENSMUST00000177114]
AlphaFold Q8CHB8
Predicted Effect probably benign
Transcript: ENSMUST00000040179
AA Change: T920K

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: T920K

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: T920K

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: T920K

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: ENSMUST00000110224
AA Change: T907K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: T907K

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 probably benign
Transcript: ENSMUST00000155448
SMART Domains Protein: ENSMUSP00000134971
Gene: ENSMUSG00000012609

DomainStartEndE-ValueType
Pfam:TTL 110 407 6.4e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176460
Predicted Effect probably benign
Transcript: ENSMUST00000176695
SMART Domains Protein: ENSMUSP00000135852
Gene: ENSMUSG00000012609

DomainStartEndE-ValueType
Pfam:TTL 110 407 2.1e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176937
Predicted Effect unknown
Transcript: ENSMUST00000177525
AA Change: T49K
Predicted Effect unknown
Transcript: ENSMUST00000177168
AA Change: T355K
SMART Domains Protein: ENSMUSP00000134874
Gene: ENSMUSG00000012609
AA Change: T355K

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
low complexity region 31 57 N/A INTRINSIC
low complexity region 183 197 N/A INTRINSIC
low complexity region 217 229 N/A INTRINSIC
low complexity region 271 283 N/A INTRINSIC
low complexity region 603 617 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177114
SMART Domains Protein: ENSMUSP00000135395
Gene: ENSMUSG00000012609

DomainStartEndE-ValueType
Pfam:TTL 110 407 2.1e-95 PFAM
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency
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
1700018F24Rik T C 5: 144,982,351 (GRCm39) V312A probably damaging Het
2810408A11Rik A G 11: 69,791,453 (GRCm39) V42A probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Angpt1 T A 15: 42,387,012 (GRCm39) Q114L probably damaging Het
Apc2 T C 10: 80,144,964 (GRCm39) I625T probably damaging Het
Atg2a T C 19: 6,300,628 (GRCm39) V735A probably benign Het
Birc6 T A 17: 74,947,008 (GRCm39) I2909N probably damaging Het
C7 C G 15: 5,041,557 (GRCm39) D450H probably damaging Het
Cachd1 C T 4: 100,821,632 (GRCm39) T403I probably damaging Het
Cachd1 T A 4: 100,824,240 (GRCm39) F560L probably benign Het
Cacna2d2 A T 9: 107,403,350 (GRCm39) Y944F probably benign Het
Cdkal1 C T 13: 30,034,031 (GRCm39) D21N probably damaging Het
Col18a1 T C 10: 76,895,815 (GRCm39) R901G probably damaging Het
Col27a1 C T 4: 63,143,950 (GRCm39) P546L probably damaging Het
Cps1 C T 1: 67,210,041 (GRCm39) R624W possibly damaging Het
Cyp11a1 A T 9: 57,925,643 (GRCm39) I93F probably benign Het
Cyp2c40 G C 19: 39,775,250 (GRCm39) T334R probably damaging Het
Cyp4f37 A G 17: 32,848,864 (GRCm39) D244G possibly damaging Het
D630003M21Rik A T 2: 158,062,390 (GRCm39) D43E probably damaging Het
Ep400 C A 5: 110,833,357 (GRCm39) C1955F unknown Het
Ethe1 G A 7: 24,293,371 (GRCm39) V6I probably benign Het
F5 C A 1: 164,020,104 (GRCm39) Q860K probably benign Het
Fasn T C 11: 120,707,997 (GRCm39) Y685C probably damaging Het
Gga2 T G 7: 121,611,444 (GRCm39) D38A probably damaging Het
Gm43302 T A 5: 105,423,660 (GRCm39) I438F probably benign Het
Grm1 T A 10: 10,955,610 (GRCm39) T225S possibly damaging Het
Hic2 G T 16: 17,076,511 (GRCm39) V447L probably damaging Het
Hsf2 G A 10: 57,388,242 (GRCm39) C462Y probably damaging Het
Ice1 T C 13: 70,752,672 (GRCm39) D1138G probably damaging Het
Il6 A G 5: 30,224,433 (GRCm39) T158A probably benign Het
Inpp5d T A 1: 87,595,611 (GRCm39) V120E probably benign Het
Iqca1 T C 1: 90,008,625 (GRCm39) N456S probably benign Het
Itgal T A 7: 126,908,794 (GRCm39) probably null Het
Lrrc66 G C 5: 73,768,198 (GRCm39) Q248E probably benign Het
Lrrc7 T A 3: 157,865,929 (GRCm39) M1271L possibly damaging Het
Lrrc74a T C 12: 86,795,827 (GRCm39) S267P probably damaging Het
Map2 T C 1: 66,453,233 (GRCm39) S550P probably damaging Het
Mapk8ip3 A T 17: 25,143,119 (GRCm39) probably null Het
Mdm4 A C 1: 132,924,384 (GRCm39) S246A probably damaging Het
Med23 A G 10: 24,779,584 (GRCm39) E887G probably damaging Het
Mta1 C T 12: 113,091,659 (GRCm39) A254V probably damaging Het
Myh2 A G 11: 67,064,300 (GRCm39) Y85C possibly damaging Het
Myo1g A G 11: 6,465,988 (GRCm39) Y366H probably damaging Het
Nalcn G A 14: 123,515,678 (GRCm39) P1708S probably benign Het
Nlrp9c A T 7: 26,093,543 (GRCm39) S41T probably benign Het
Nptx2 T A 5: 144,490,248 (GRCm39) S226T possibly damaging Het
Nup85 T A 11: 115,473,771 (GRCm39) S562T probably benign Het
Nxpe5 T C 5: 138,237,797 (GRCm39) V107A probably benign Het
Obi1 A G 14: 104,717,098 (GRCm39) V425A possibly damaging Het
Oga T C 19: 45,765,423 (GRCm39) E128G probably benign Het
Or10ac1 A T 6: 42,515,453 (GRCm39) F168I probably damaging Het
Or10al7 A G 17: 38,366,328 (GRCm39) V43A probably benign Het
Or13c3 T A 4: 52,855,674 (GRCm39) I280F probably benign Het
Or6p1 A G 1: 174,258,905 (GRCm39) T304A probably benign Het
Pcdhb12 C T 18: 37,569,495 (GRCm39) P214S possibly damaging Het
Pcdhb5 T A 18: 37,455,725 (GRCm39) F702I probably damaging Het
Pcnx1 T C 12: 82,022,094 (GRCm39) F1475S probably damaging Het
Pde5a C A 3: 122,523,013 (GRCm39) T40N probably benign Het
Pnpla2 T A 7: 141,039,481 (GRCm39) V398E probably damaging Het
Pramel19 G A 4: 101,797,655 (GRCm39) V18M probably benign Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rab20 T C 8: 11,504,223 (GRCm39) K159R probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rgs12 T A 5: 35,123,747 (GRCm39) V510D probably benign Het
Slamf6 T C 1: 171,770,154 (GRCm39) probably benign Het
Slc27a5 A T 7: 12,731,534 (GRCm39) C23* probably null Het
Slc35e2 T C 4: 155,694,621 (GRCm39) V56A possibly damaging Het
Slx4ip T C 2: 136,909,643 (GRCm39) S143P probably damaging Het
Stat5a C T 11: 100,770,112 (GRCm39) S463F probably damaging Het
Svep1 T C 4: 58,146,562 (GRCm39) D360G possibly damaging Het
Tas2r143 A T 6: 42,377,305 (GRCm39) D45V probably damaging Het
Tdrd5 G T 1: 156,105,079 (GRCm39) R516S probably damaging Het
Thy1 A G 9: 43,958,636 (GRCm39) D126G probably benign Het
Tspear C T 10: 77,709,019 (GRCm39) T415I probably benign Het
Tut4 T C 4: 108,365,152 (GRCm39) F542L probably damaging Het
Umod T C 7: 119,076,574 (GRCm39) E64G possibly damaging Het
Usf3 A G 16: 44,036,033 (GRCm39) N171S probably damaging Het
Vmn1r23 T A 6: 57,903,675 (GRCm39) R34S probably damaging Het
Wasf1 C G 10: 40,810,475 (GRCm39) P239R possibly damaging Het
Wdr95 C T 5: 149,487,857 (GRCm39) R164* probably null Het
Zan C A 5: 137,418,251 (GRCm39) C2949F unknown Het
Zbed4 T C 15: 88,665,080 (GRCm39) S383P probably benign Het
Zfand5 T A 19: 21,253,895 (GRCm39) C33S probably damaging Het
Zfp12 A G 5: 143,230,984 (GRCm39) Y437C probably damaging Het
Zfp451 A C 1: 33,852,849 (GRCm39) S22A 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
R0153:Ttll5 UTSW 12 85,878,740 (GRCm39) missense probably damaging 1.00
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
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'- TGCTCTCGACACGTTTTGAGCAC -3'
(R):5'- AGGCAGCCATCATTTTCTCACTCAC -3'

Sequencing Primer
(F):5'- CTTTTCCCAGAGGGTGAGGAAC -3'
(R):5'- CGAGACAGTTTCTGGCTATAGATATG -3'
Posted On 2014-05-23