Incidental Mutation 'IGL01726:Ttll5'
| ID |
105293 |
| 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)
|
| Stock # |
IGL01726
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
85871417-86100534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 85965708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 571
(I571S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105853
(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: I584S
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: I584S
| Domain | Start | End | E-Value | Type |
|---|
|
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: I584S
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: I584S
| Domain | Start | End | E-Value | Type |
|---|
|
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: I571S
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: I571S
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176937
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000177168
AA Change: I19S
|
| SMART Domains |
Protein: ENSMUSP00000134874
Gene: ENSMUSG00000012609
AA Change: I19S
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
C |
3: 89,638,147 (GRCm39) |
|
probably null |
Het |
| Arpc2 |
A |
G |
1: 74,287,338 (GRCm39) |
T53A |
probably benign |
Het |
| Ccdc170 |
C |
A |
10: 4,499,713 (GRCm39) |
L545M |
probably benign |
Het |
| Ccm2l |
T |
C |
2: 152,922,821 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,810,391 (GRCm39) |
N2166D |
probably benign |
Het |
| Clca4b |
T |
G |
3: 144,634,103 (GRCm39) |
D104A |
probably damaging |
Het |
| Clcnka |
C |
T |
4: 141,120,051 (GRCm39) |
|
probably null |
Het |
| Clip2 |
A |
T |
5: 134,551,518 (GRCm39) |
N201K |
probably damaging |
Het |
| Cyp1a2 |
G |
A |
9: 57,589,485 (GRCm39) |
L110F |
possibly damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,947,467 (GRCm39) |
T6A |
unknown |
Het |
| Enthd1 |
A |
C |
15: 80,336,652 (GRCm39) |
L594R |
probably damaging |
Het |
| Espnl |
A |
G |
1: 91,272,626 (GRCm39) |
D618G |
probably benign |
Het |
| Gm6096 |
A |
T |
7: 33,950,904 (GRCm39) |
I148F |
probably damaging |
Het |
| Hsf5 |
C |
T |
11: 87,526,951 (GRCm39) |
T541I |
probably benign |
Het |
| Il18r1 |
A |
G |
1: 40,537,563 (GRCm39) |
S443G |
possibly damaging |
Het |
| Il1a |
T |
C |
2: 129,146,640 (GRCm39) |
D151G |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,754,166 (GRCm39) |
|
probably benign |
Het |
| Kcnh1 |
A |
C |
1: 192,188,164 (GRCm39) |
D875A |
possibly damaging |
Het |
| Naip6 |
T |
A |
13: 100,439,760 (GRCm39) |
I336F |
probably benign |
Het |
| Napepld |
A |
G |
5: 21,880,657 (GRCm39) |
F246S |
possibly damaging |
Het |
| Nova1 |
C |
T |
12: 46,760,280 (GRCm39) |
|
probably null |
Het |
| Nsa2 |
C |
A |
13: 97,268,525 (GRCm39) |
A181S |
probably damaging |
Het |
| Ntn5 |
C |
A |
7: 45,343,671 (GRCm39) |
R337S |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,101,611 (GRCm39) |
S427P |
probably benign |
Het |
| Or52e5 |
A |
G |
7: 104,718,836 (GRCm39) |
E54G |
probably damaging |
Het |
| Pcgf1 |
T |
A |
6: 83,055,867 (GRCm39) |
|
probably null |
Het |
| Pfn4 |
T |
A |
12: 4,824,446 (GRCm39) |
L58I |
probably benign |
Het |
| Plekha1 |
C |
A |
7: 130,499,059 (GRCm39) |
P116Q |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,300 (GRCm39) |
S81P |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,570,146 (GRCm39) |
D243G |
probably damaging |
Het |
| Rbm26 |
G |
A |
14: 105,389,943 (GRCm39) |
P227L |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,394,904 (GRCm39) |
N756K |
probably damaging |
Het |
| Rhou |
A |
T |
8: 124,380,880 (GRCm39) |
T66S |
possibly damaging |
Het |
| Rspo3 |
A |
T |
10: 29,380,704 (GRCm39) |
D103E |
probably benign |
Het |
| Rundc3b |
T |
C |
5: 8,570,902 (GRCm39) |
K306E |
probably benign |
Het |
| Slc25a32 |
A |
G |
15: 38,965,466 (GRCm39) |
|
probably benign |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Tars3 |
A |
G |
7: 65,332,566 (GRCm39) |
T556A |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,342,486 (GRCm39) |
K324E |
probably benign |
Het |
| Tnrc6c |
T |
C |
11: 117,640,161 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,817,971 (GRCm39) |
S452T |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,717,121 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,797,433 (GRCm39) |
T544A |
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,891,334 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
C |
A |
17: 47,303,907 (GRCm39) |
|
probably benign |
Het |
| Usp21 |
A |
T |
1: 171,111,574 (GRCm39) |
W360R |
probably damaging |
Het |
| Vmn2r62 |
A |
T |
7: 42,414,526 (GRCm39) |
L639H |
probably damaging |
Het |
| Zc3h7b |
T |
A |
15: 81,656,000 (GRCm39) |
I116N |
possibly damaging |
Het |
| Zfp618 |
C |
T |
4: 63,050,872 (GRCm39) |
T551I |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 7,230,707 (GRCm39) |
|
probably benign |
Het |
| Zkscan8 |
T |
C |
13: 21,704,973 (GRCm39) |
H322R |
probably benign |
Het |
| Zwint |
T |
G |
10: 72,493,019 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ttll5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation