Incidental Mutation 'R1524:Ttll5'
| ID |
167735 |
| 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 |
039565-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.709)
|
| Stock # |
R1524 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
85871417-86100534 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 85911342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 233
(Y233*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040179]
[ENSMUST00000040273]
[ENSMUST00000095536]
[ENSMUST00000110220]
[ENSMUST00000110224]
[ENSMUST00000155448]
[ENSMUST00000176695]
[ENSMUST00000177114]
|
| AlphaFold |
Q8CHB8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040179
AA Change: Y233*
|
| SMART Domains |
Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: Y233*
| 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 null
Transcript: ENSMUST00000040273
AA Change: Y233*
|
| SMART Domains |
Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: Y233*
| 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 null
Transcript: ENSMUST00000095536
AA Change: Y233*
|
| SMART Domains |
Protein: ENSMUSP00000093192
Gene: ENSMUSG00000012609
AA Change: Y233*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.2e-95 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110220
AA Change: Y233*
|
| SMART Domains |
Protein: ENSMUSP00000105849
Gene: ENSMUSG00000012609
AA Change: Y233*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
348 |
3.5e-72 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110224
AA Change: Y233*
|
| SMART Domains |
Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: Y233*
| 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 null
Transcript: ENSMUST00000155448
AA Change: Y233*
|
| SMART Domains |
Protein: ENSMUSP00000134971
Gene: ENSMUSG00000012609
AA Change: Y233*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
6.4e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176008
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176695
AA Change: Y233*
|
| SMART Domains |
Protein: ENSMUSP00000135852
Gene: ENSMUSG00000012609
AA Change: Y233*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177114
AA Change: Y233*
|
| SMART Domains |
Protein: ENSMUSP00000135395
Gene: ENSMUSG00000012609
AA Change: Y233*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
| Meta Mutation Damage Score |
0.9712 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
97% (68/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
G |
T |
5: 88,119,548 (GRCm39) |
V102L |
probably benign |
Het |
| Adck1 |
T |
C |
12: 88,368,854 (GRCm39) |
Y111H |
probably damaging |
Het |
| Adcy10 |
G |
T |
1: 165,345,972 (GRCm39) |
K340N |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,820,089 (GRCm39) |
V355A |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,751,162 (GRCm39) |
|
probably benign |
Het |
| Atrn |
T |
C |
2: 130,799,000 (GRCm39) |
V390A |
probably benign |
Het |
| Bpifc |
T |
A |
10: 85,813,599 (GRCm39) |
Q315L |
probably benign |
Het |
| C1qtnf6 |
T |
G |
15: 78,409,092 (GRCm39) |
|
probably null |
Het |
| Cab39l |
A |
G |
14: 59,757,186 (GRCm39) |
|
probably benign |
Het |
| Capn12 |
T |
A |
7: 28,582,189 (GRCm39) |
|
probably benign |
Het |
| Ceacam18 |
A |
C |
7: 43,288,779 (GRCm39) |
T177P |
possibly damaging |
Het |
| Ces5a |
A |
T |
8: 94,252,293 (GRCm39) |
F200I |
probably damaging |
Het |
| Cldn19 |
G |
T |
4: 119,114,248 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
A |
G |
6: 46,507,613 (GRCm39) |
S46P |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,413,732 (GRCm39) |
Y1028H |
probably damaging |
Het |
| Exd1 |
A |
T |
2: 119,355,155 (GRCm39) |
F253L |
probably damaging |
Het |
| Fam161a |
A |
G |
11: 22,965,826 (GRCm39) |
N40D |
possibly damaging |
Het |
| Fam81a |
A |
T |
9: 70,032,390 (GRCm39) |
I34N |
probably damaging |
Het |
| Fchsd1 |
A |
C |
18: 38,098,950 (GRCm39) |
|
probably null |
Het |
| Fut11 |
T |
A |
14: 20,746,234 (GRCm39) |
F359I |
possibly damaging |
Het |
| Fut7 |
T |
C |
2: 25,315,159 (GRCm39) |
V92A |
probably damaging |
Het |
| Grid2 |
C |
G |
6: 64,406,738 (GRCm39) |
F699L |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,481,467 (GRCm39) |
S445P |
possibly damaging |
Het |
| H2al2b |
A |
C |
Y: 2,720,391 (GRCm39) |
F95C |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,890,777 (GRCm39) |
D1246G |
probably damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,032 (GRCm39) |
N56S |
probably damaging |
Het |
| Ldb3 |
C |
A |
14: 34,277,313 (GRCm39) |
V354L |
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,371,192 (GRCm39) |
Y479C |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,178,444 (GRCm39) |
V1595A |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,326,323 (GRCm39) |
V2939A |
possibly damaging |
Het |
| Mapre3 |
T |
G |
5: 31,019,261 (GRCm39) |
I35S |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,734,150 (GRCm39) |
L588Q |
probably damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,398,198 (GRCm39) |
|
probably benign |
Het |
| Ncstn |
C |
A |
1: 171,899,716 (GRCm39) |
R322L |
possibly damaging |
Het |
| Ndst1 |
A |
T |
18: 60,831,576 (GRCm39) |
I594N |
probably damaging |
Het |
| Ndst3 |
A |
G |
3: 123,342,555 (GRCm39) |
I752T |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 59,006,681 (GRCm39) |
S1185R |
probably damaging |
Het |
| Or5b112 |
T |
A |
19: 13,319,486 (GRCm39) |
C121* |
probably null |
Het |
| Or6aa1 |
A |
G |
7: 86,044,020 (GRCm39) |
S229P |
probably benign |
Het |
| Or9q1 |
A |
T |
19: 13,805,679 (GRCm39) |
L27H |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,536,900 (GRCm39) |
D1285V |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,617,880 (GRCm39) |
I125T |
probably benign |
Het |
| Pde4a |
T |
C |
9: 21,112,543 (GRCm39) |
S240P |
probably damaging |
Het |
| Pi15 |
T |
C |
1: 17,690,076 (GRCm39) |
S126P |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,188,004 (GRCm39) |
S3435G |
probably damaging |
Het |
| Plin1 |
C |
A |
7: 79,376,338 (GRCm39) |
V133L |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,080,776 (GRCm39) |
C7S |
unknown |
Het |
| Ppp3ca |
A |
T |
3: 136,503,579 (GRCm39) |
M51L |
probably benign |
Het |
| Primpol |
G |
T |
8: 47,039,502 (GRCm39) |
|
probably benign |
Het |
| Prlr |
T |
C |
15: 10,319,419 (GRCm39) |
V116A |
probably damaging |
Het |
| Ptgr3 |
A |
G |
18: 84,112,831 (GRCm39) |
E169G |
probably benign |
Het |
| Rnf139 |
A |
G |
15: 58,761,266 (GRCm39) |
D35G |
probably damaging |
Het |
| Rsbn1l |
T |
A |
5: 21,156,671 (GRCm39) |
K38M |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,699,427 (GRCm39) |
I888F |
probably damaging |
Het |
| Sec16a |
C |
A |
2: 26,318,394 (GRCm39) |
V1566F |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 73,479,915 (GRCm39) |
T874A |
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,286,491 (GRCm39) |
D891E |
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,344,978 (GRCm39) |
Y110D |
probably damaging |
Het |
| Smarcd2 |
C |
T |
11: 106,157,978 (GRCm39) |
V97I |
probably benign |
Het |
| St6galnac2 |
G |
A |
11: 116,575,313 (GRCm39) |
|
probably benign |
Het |
| Tbc1d22b |
T |
C |
17: 29,789,585 (GRCm39) |
L149P |
probably damaging |
Het |
| Tekt2 |
T |
C |
4: 126,217,442 (GRCm39) |
I208V |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,682,016 (GRCm39) |
I2522T |
possibly damaging |
Het |
| Vcpip1 |
C |
T |
1: 9,794,727 (GRCm39) |
E1215K |
probably damaging |
Het |
| Wdr4 |
T |
C |
17: 31,728,737 (GRCm39) |
|
probably benign |
Het |
| Zfp703 |
G |
A |
8: 27,469,401 (GRCm39) |
G355D |
probably damaging |
Het |
| Zfp830 |
T |
A |
11: 82,655,794 (GRCm39) |
D199E |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATGACTCCATCCTTGGAGCTG -3'
(R):5'- GTCATTTGAACCCACCCAGGTACAC -3'
Sequencing Primer
(F):5'- GGTCCATGTTACGACATCATACTG -3'
(R):5'- CACCCAGGTACACTCTGTTTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation