Incidental Mutation 'R5012:Ttll5'
ID 390588
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 042603-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.716) question?
Stock # R5012 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 85871417-86100534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85973618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 776 (E776K)
Ref Sequence ENSEMBL: ENSMUSP00000105853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040179] [ENSMUST00000040273] [ENSMUST00000110224] [ENSMUST00000155448] [ENSMUST00000176695] [ENSMUST00000177114]
AlphaFold Q8CHB8
Predicted Effect possibly damaging
Transcript: ENSMUST00000040179
AA Change: E789K

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: E789K

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 possibly damaging
Transcript: ENSMUST00000040273
AA Change: E789K

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: E789K

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 possibly damaging
Transcript: ENSMUST00000110224
AA Change: E776K

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: E776K

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 unknown
Transcript: ENSMUST00000176460
AA Change: E255K
Predicted Effect probably benign
Transcript: ENSMUST00000176695
SMART Domains Protein: ENSMUSP00000135852
Gene: ENSMUSG00000012609

DomainStartEndE-ValueType
Pfam:TTL 110 407 2.1e-95 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000176937
AA Change: E87K
Predicted Effect unknown
Transcript: ENSMUST00000177168
AA Change: E224K
SMART Domains Protein: ENSMUSP00000134874
Gene: ENSMUSG00000012609
AA Change: E224K

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
Meta Mutation Damage Score 0.0639 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 90.9%
Validation Efficiency 98% (45/46)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,767,217 (GRCm39) T268K possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Acsl1 A G 8: 46,974,468 (GRCm39) S314G probably benign Het
Aftph G A 11: 20,648,264 (GRCm39) probably benign Het
Ankrd34c T G 9: 89,611,709 (GRCm39) I211L probably benign Het
Anks1b A G 10: 90,194,999 (GRCm39) T560A probably benign Het
Carmil1 G T 13: 24,208,403 (GRCm39) S1247R possibly damaging Het
Elf1 T A 14: 79,808,174 (GRCm39) Y172N probably damaging Het
Emx1 C T 6: 85,180,955 (GRCm39) P224L probably benign Het
Fastkd2 A T 1: 63,789,055 (GRCm39) probably benign Het
Fbxw27 C A 9: 109,602,271 (GRCm39) C234F probably benign Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Igkv6-23 C A 6: 70,237,529 (GRCm39) A71S probably damaging Het
Igsf10 A G 3: 59,226,143 (GRCm39) L2510P probably damaging Het
Itgal T C 7: 126,898,802 (GRCm39) probably null Het
Kmt2c C A 5: 25,504,710 (GRCm39) G122* probably null Het
Lamtor2 C T 3: 88,460,163 (GRCm39) R3H possibly damaging Het
Magi2 A T 5: 20,670,618 (GRCm39) T321S probably damaging Het
Mau2 A G 8: 70,484,107 (GRCm39) probably null Het
Mcm7 A T 5: 138,167,609 (GRCm39) probably null Het
Mitd1 A T 1: 37,924,374 (GRCm39) C59S probably benign Het
Muc6 A G 7: 141,216,570 (GRCm39) L2636P possibly damaging Het
Paip1 A G 13: 119,584,338 (GRCm39) M233V probably benign Het
Pcdhb11 C A 18: 37,556,029 (GRCm39) T453N possibly damaging Het
Plcb1 A G 2: 135,175,320 (GRCm39) N545S probably null Het
Prl8a9 A T 13: 27,746,594 (GRCm39) probably null Het
Psmc2 A G 5: 22,007,563 (GRCm39) T308A probably benign Het
Rassf2 C A 2: 131,851,610 (GRCm39) R44L probably damaging Het
Scn11a A T 9: 119,609,944 (GRCm39) M968K probably benign Het
Septin4 T A 11: 87,475,230 (GRCm39) S146T possibly damaging Het
Slc41a2 A G 10: 83,137,127 (GRCm39) I260T probably benign Het
Steap2 G C 5: 5,727,784 (GRCm39) L184V possibly damaging Het
Vipr1 A T 9: 121,487,111 (GRCm39) probably null Het
Yars2 T C 16: 16,121,448 (GRCm39) S201P probably damaging Het
Zfp386 T A 12: 116,022,864 (GRCm39) I194K probably benign Het
Zfp988 A G 4: 147,416,060 (GRCm39) I165V 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
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
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'- ATTCTGCCACTGTTACTTGGG -3'
(R):5'- GGGACCAAAGTCGTTCACATC -3'

Sequencing Primer
(F):5'- TGGTGACCAAAAGTAGCTTGTC -3'
(R):5'- AGTCGTTCACATCTGTGTATCAG -3'
Posted On 2016-06-06