Incidental Mutation 'R9302:Ttll5'
ID 705026
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.716) question?
Stock # R9302 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 85871417-86100534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85873338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 5 (M5K)
Ref Sequence ENSEMBL: ENSMUSP00000048809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021676] [ENSMUST00000040179] [ENSMUST00000040273] [ENSMUST00000095536] [ENSMUST00000110220] [ENSMUST00000110224] [ENSMUST00000142331] [ENSMUST00000142411] [ENSMUST00000153570] [ENSMUST00000155448] [ENSMUST00000176695] [ENSMUST00000177114] [ENSMUST00000177188]
AlphaFold Q8CHB8
Predicted Effect probably benign
Transcript: ENSMUST00000021676
SMART Domains Protein: ENSMUSP00000021676
Gene: ENSMUSG00000021252

DomainStartEndE-ValueType
Pfam:Erg28 6 115 5.9e-43 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000040179
AA Change: M5K

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: M5K

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: M5K

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: M5K

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: M5K

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000093192
Gene: ENSMUSG00000012609
AA Change: M5K

DomainStartEndE-ValueType
Pfam:TTL 110 407 2.2e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110220
AA Change: M5K

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105849
Gene: ENSMUSG00000012609
AA Change: M5K

DomainStartEndE-ValueType
Pfam:TTL 110 348 3.5e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110224
AA Change: M5K

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: M5K

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: ENSMUST00000142331
SMART Domains Protein: ENSMUSP00000114987
Gene: ENSMUSG00000021252

DomainStartEndE-ValueType
Pfam:Erg28 5 54 1.5e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000142411
AA Change: M5K

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000153570
AA Change: M5K

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect possibly damaging
Transcript: ENSMUST00000155448
AA Change: M5K

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134971
Gene: ENSMUSG00000012609
AA Change: M5K

DomainStartEndE-ValueType
Pfam:TTL 110 407 6.4e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176695
AA Change: M5K

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000135852
Gene: ENSMUSG00000012609
AA Change: M5K

DomainStartEndE-ValueType
Pfam:TTL 110 407 2.1e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177114
AA Change: M5K

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000135395
Gene: ENSMUSG00000012609
AA Change: M5K

DomainStartEndE-ValueType
Pfam:TTL 110 407 2.1e-95 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177188
AA Change: M5K

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134928
Gene: ENSMUSG00000012609
AA Change: M5K

DomainStartEndE-ValueType
Pfam:TTL 110 175 4.9e-14 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (54/54)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aar2 T C 2: 156,392,956 (GRCm39) L115P probably damaging Het
Acsl1 T A 8: 46,983,470 (GRCm39) D494E probably damaging Het
Adgrl1 T C 8: 84,656,426 (GRCm39) V243A possibly damaging Het
Ak9 A T 10: 41,196,486 (GRCm39) I103F Het
Ank3 C T 10: 69,761,849 (GRCm39) probably benign Het
Ano4 T A 10: 88,831,220 (GRCm39) I468L probably benign Het
Anxa2r1 A G 13: 120,496,626 (GRCm39) I81T probably benign Het
Arhgef10l G A 4: 140,242,548 (GRCm39) S959L probably benign Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Cfap221 T C 1: 119,853,365 (GRCm39) I776M probably benign Het
Col3a1 C T 1: 45,350,980 (GRCm39) Q25* probably null Het
Crabp2 C A 3: 87,859,833 (GRCm39) L100I probably benign Het
Dnah5 A G 15: 28,240,032 (GRCm39) D463G probably benign Het
Dst T C 1: 34,264,636 (GRCm39) L2602P probably damaging Het
Dusp1 A G 17: 26,726,148 (GRCm39) Y182H probably damaging Het
Fhip1a C A 3: 85,579,941 (GRCm39) D755Y probably damaging Het
Fras1 T A 5: 96,682,751 (GRCm39) C83S probably damaging Het
Frrs1 G T 3: 116,692,899 (GRCm39) probably null Het
Gcnt3 A G 9: 69,942,529 (GRCm39) L13P possibly damaging Het
Gm8094 T C 14: 42,932,834 (GRCm39) D88G probably benign Het
Hfe C T 13: 23,890,025 (GRCm39) M249I probably benign Het
Hipk1 T C 3: 103,685,099 (GRCm39) E172G probably benign Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Ltb4r2 A T 14: 55,999,733 (GRCm39) Q118L probably damaging Het
Ltbp4 A T 7: 27,008,481 (GRCm39) C1342S possibly damaging Het
Lyst A G 13: 13,904,947 (GRCm39) D3208G possibly damaging Het
Mbnl2 A G 14: 120,622,950 (GRCm39) T163A probably benign Het
Mre11a T A 9: 14,696,826 (GRCm39) probably null Het
Myo15b A G 11: 115,776,238 (GRCm39) N610D possibly damaging Het
Nt5c1b T C 12: 10,430,882 (GRCm39) S390P probably damaging Het
Or10ag53 T A 2: 87,082,906 (GRCm39) F208L probably benign Het
Pde3b A G 7: 114,122,621 (GRCm39) T730A probably damaging Het
Pdzd2 G T 15: 12,374,342 (GRCm39) T1931N possibly damaging Het
Pla2g15 C T 8: 106,877,201 (GRCm39) A28V probably benign Het
Pmfbp1 A T 8: 110,268,474 (GRCm39) D1007V probably damaging Het
Polr1a T A 6: 71,901,683 (GRCm39) probably null Het
Ppp1r3a T C 6: 14,721,891 (GRCm39) K312E probably benign Het
Prmt5 G A 14: 54,749,583 (GRCm39) T269I probably benign Het
Pwp2 A G 10: 78,009,540 (GRCm39) S793P probably benign Het
Rbm12b1 C A 4: 12,146,181 (GRCm39) H718N probably benign Het
Rfx1 T A 8: 84,817,662 (GRCm39) M512K possibly damaging Het
Rp1 T C 1: 4,416,789 (GRCm39) E1441G probably damaging Het
Slc16a6 C T 11: 109,350,634 (GRCm39) V207I probably benign Het
Slc6a9 G A 4: 117,706,596 (GRCm39) R7H possibly damaging Het
Sptlc1 A T 13: 53,528,047 (GRCm39) V39D probably benign Het
Strc A T 2: 121,211,336 (GRCm39) L3Q unknown Het
Svep1 C T 4: 58,120,565 (GRCm39) E823K possibly damaging Het
Tat A G 8: 110,725,031 (GRCm39) probably benign Het
Thoc1 T A 18: 9,968,800 (GRCm39) N190K possibly damaging Het
Tomt T C 7: 101,549,826 (GRCm39) E154G probably damaging Het
Topaz1 T A 9: 122,617,887 (GRCm39) V1228E possibly damaging Het
Trim55 G A 3: 19,727,153 (GRCm39) V407M probably benign Het
Ugt2a2 A C 5: 87,609,940 (GRCm39) Y380* probably null Het
Usp46 A G 5: 74,163,922 (GRCm39) Y272H probably benign Het
Vps39 A T 2: 120,151,525 (GRCm39) probably benign Het
Zfp12 T A 5: 143,230,421 (GRCm39) H281Q probably damaging Het
Zfp142 C A 1: 74,606,302 (GRCm39) R1756L probably damaging Het
Zmynd10 T A 9: 107,426,516 (GRCm39) I183K possibly damaging 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
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
R9621:Ttll5 UTSW 12 85,938,896 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- TGGCAGAAGGTAAGCTTCTAG -3'
(R):5'- GATCTTGACTCCAAACACAGATG -3'

Sequencing Primer
(F):5'- GCTTCTAGAGACTGGAAAATACTCAG -3'
(R):5'- TGACTCCAAACACAGATGGAAGCTAG -3'
Posted On 2022-03-25