Incidental Mutation 'IGL02008:Ttll5'
ID 183246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttll5
Ensembl Gene ENSMUSG00000012609
Gene Name tubulin tyrosine ligase-like family, member 5
Synonyms 1700048H13Rik, D630041K24Rik, STAMP, 2310009M18Rik, 4930556H18Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.716) question?
Stock # IGL02008
Quality Score
Status
Chromosome 12
Chromosomal Location 85871417-86100534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85980385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 119 (S119P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040179] [ENSMUST00000040273] [ENSMUST00000110224] [ENSMUST00000155448] [ENSMUST00000176695] [ENSMUST00000177114]
AlphaFold Q8CHB8
Predicted Effect probably damaging
Transcript: ENSMUST00000040179
AA Change: S990P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: S990P

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 damaging
Transcript: ENSMUST00000040273
AA Change: S990P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: S990P

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 damaging
Transcript: ENSMUST00000110224
AA Change: S977P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: S977P

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 damaging
Transcript: ENSMUST00000177525
AA Change: S119P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000177168
AA Change: S425P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134874
Gene: ENSMUSG00000012609
AA Change: S425P

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
Predicted Effect probably benign
Transcript: ENSMUST00000176937
Coding Region Coverage
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,969,750 (GRCm39) T2252A probably benign Het
Abcc2 C T 19: 43,810,189 (GRCm39) probably benign Het
Abcf1 T C 17: 36,272,954 (GRCm39) E231G probably benign Het
Astn2 T C 4: 65,977,390 (GRCm39) Y379C probably damaging Het
Atp8b1 G T 18: 64,671,766 (GRCm39) probably benign Het
Atr T A 9: 95,763,473 (GRCm39) probably benign Het
Bdp1 A G 13: 100,160,335 (GRCm39) S2349P possibly damaging Het
Bmp2 T C 2: 133,402,886 (GRCm39) S146P probably damaging Het
Cacna1c T C 6: 118,692,885 (GRCm39) S218G probably null Het
Cand2 T C 6: 115,780,599 (GRCm39) V1161A probably damaging Het
Clec16a T C 16: 10,398,824 (GRCm39) V330A probably damaging Het
Cpsf1 A T 15: 76,487,291 (GRCm39) V161D probably damaging Het
Ctsh A G 9: 89,943,600 (GRCm39) Y75C probably damaging Het
Cyp26c1 C A 19: 37,677,371 (GRCm39) L267M probably damaging Het
Cyp26c1 T A 19: 37,677,372 (GRCm39) L267Q probably damaging Het
Cyp2c50 G A 19: 40,079,543 (GRCm39) W212* probably null Het
Dnah5 T A 15: 28,343,698 (GRCm39) M2366K probably damaging Het
Ermp1 A G 19: 29,590,320 (GRCm39) M794T probably damaging Het
F11 G T 8: 45,703,132 (GRCm39) S186Y probably damaging Het
Fam184b A T 5: 45,690,165 (GRCm39) F815I possibly damaging Het
Fezf2 T C 14: 12,343,705 (GRCm38) I347V probably benign Het
Fip1l1 C T 5: 74,706,084 (GRCm39) T114I possibly damaging Het
Gbp7 A C 3: 142,252,211 (GRCm39) D598A probably benign Het
Gm1110 T A 9: 26,794,526 (GRCm39) D500V probably benign Het
Gm3248 T A 14: 5,943,928 (GRCm38) M99L probably benign Het
Gpi-ps A T 8: 5,689,896 (GRCm39) noncoding transcript Het
Hspa9 G A 18: 35,081,028 (GRCm39) R218* probably null Het
Ikbip G A 10: 90,929,119 (GRCm39) probably null Het
Kcnb2 C T 1: 15,781,033 (GRCm39) T635M probably benign Het
Krtap29-1 T A 11: 99,869,105 (GRCm39) I259F possibly damaging Het
Lnpep T C 17: 17,791,219 (GRCm39) T442A probably benign Het
Mgat1 T A 11: 49,151,562 (GRCm39) I15N probably damaging Het
Nlrp9c A T 7: 26,084,576 (GRCm39) S334R probably benign Het
Notch2 A T 3: 98,054,612 (GRCm39) D2425V probably damaging Het
Ntn1 C T 11: 68,104,089 (GRCm39) V520M probably damaging Het
Or10d1b A G 9: 39,613,549 (GRCm39) V172A probably damaging Het
Or4p18 T A 2: 88,232,421 (GRCm39) T286S possibly damaging Het
Or5d39 A T 2: 87,979,922 (GRCm39) V147E probably damaging Het
Or6c3b T A 10: 129,527,887 (GRCm39) T8S probably benign Het
Or8g55 A T 9: 39,784,781 (GRCm39) D70V probably damaging Het
Or8k39 A C 2: 86,563,521 (GRCm39) I145R possibly damaging Het
Osr2 A G 15: 35,302,138 (GRCm39) H246R probably damaging Het
Papolg T C 11: 23,829,898 (GRCm39) R224G probably damaging Het
Pax6 T A 2: 105,522,623 (GRCm39) probably null Het
Pcyox1 A G 6: 86,369,250 (GRCm39) V192A probably benign Het
Phf1 C T 17: 27,154,260 (GRCm39) A159V possibly damaging Het
Ppfia4 G A 1: 134,260,129 (GRCm39) R45W probably damaging Het
Psmb9 T A 17: 34,402,653 (GRCm39) K109M probably damaging Het
Ptprt T A 2: 161,769,593 (GRCm39) Y424F probably benign Het
Ptrh2 A G 11: 86,580,592 (GRCm39) I70V probably benign Het
Rnf213 G A 11: 119,309,135 (GRCm39) probably benign Het
Rom1 T A 19: 8,905,368 (GRCm39) I271F probably benign Het
Satb2 T A 1: 56,835,952 (GRCm39) D731V possibly damaging Het
Serpinb7 G T 1: 107,375,859 (GRCm39) G159V possibly damaging Het
Slit1 T C 19: 41,634,579 (GRCm39) I393V probably damaging Het
Spata20 T A 11: 94,374,289 (GRCm39) D327V probably damaging Het
Spata31e3 G A 13: 50,400,721 (GRCm39) P535L probably benign Het
Spmap2l A T 5: 77,208,605 (GRCm39) I378L probably benign Het
Tbc1d32 G T 10: 56,027,871 (GRCm39) Q744K possibly damaging Het
Tmem108 G T 9: 103,366,439 (GRCm39) N517K possibly damaging Het
Trp63 T A 16: 25,681,211 (GRCm39) N160K probably damaging Het
Ubqln3 T A 7: 103,791,523 (GRCm39) Q189L probably damaging Het
Vwa5a G A 9: 38,649,072 (GRCm39) R638H probably benign Het
Wdr3 A G 3: 100,058,298 (GRCm39) S436P probably damaging Het
Zfp975 A T 7: 42,312,215 (GRCm39) C133S probably damaging Het
Zfp976 A T 7: 42,263,656 (GRCm39) probably benign Het
Zmiz1 A G 14: 25,657,303 (GRCm39) M860V probably damaging Het
Zscan4d T C 7: 10,896,296 (GRCm39) E358G 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
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
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
Posted On 2014-05-07