Incidental Mutation 'R6825:Ttll5'
| ID |
557055 |
| 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 |
044937-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.709)
|
| Stock # |
R6825 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
85871417-86100534 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3853 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 85930102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105853
(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
|
| SMART Domains |
Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
| 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
|
| SMART Domains |
Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
| 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
|
| SMART Domains |
Protein: ENSMUSP00000093192
Gene: ENSMUSG00000012609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.2e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110220
|
| SMART Domains |
Protein: ENSMUSP00000105849
Gene: ENSMUSG00000012609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
348 |
3.5e-72 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110224
|
| SMART Domains |
Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
| 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: 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: ENSMUST00000177114
|
| SMART Domains |
Protein: ENSMUSP00000135395
Gene: ENSMUSG00000012609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
T |
12: 72,954,654 (GRCm39) |
S206T |
probably benign |
Het |
| Aasdh |
A |
T |
5: 77,036,696 (GRCm39) |
|
probably null |
Het |
| Adam10 |
G |
T |
9: 70,668,884 (GRCm39) |
C400F |
probably damaging |
Het |
| Ankle2 |
A |
T |
5: 110,398,635 (GRCm39) |
R561S |
probably null |
Het |
| Arhgef5 |
C |
T |
6: 43,251,895 (GRCm39) |
T882I |
probably damaging |
Het |
| Arpc1a |
A |
T |
5: 145,032,936 (GRCm39) |
K82* |
probably null |
Het |
| Card11 |
C |
A |
5: 140,863,837 (GRCm39) |
R967L |
probably benign |
Het |
| Ccdc82 |
G |
T |
9: 13,251,601 (GRCm39) |
|
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,227,392 (GRCm39) |
D1026G |
probably damaging |
Het |
| Cit |
A |
T |
5: 116,119,833 (GRCm39) |
Q1321L |
probably damaging |
Het |
| Clcn2 |
C |
A |
16: 20,528,408 (GRCm39) |
|
probably benign |
Het |
| Csf3 |
G |
C |
11: 98,593,273 (GRCm39) |
G130A |
probably damaging |
Het |
| Cul2 |
T |
A |
18: 3,434,946 (GRCm39) |
S737T |
probably damaging |
Het |
| Cyp1a2 |
G |
A |
9: 57,584,543 (GRCm39) |
H504Y |
probably benign |
Het |
| Cyp3a44 |
G |
A |
5: 145,716,396 (GRCm39) |
P398L |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,960,147 (GRCm39) |
I2206T |
probably damaging |
Het |
| Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
| Epb41l5 |
A |
T |
1: 119,547,931 (GRCm39) |
D157E |
possibly damaging |
Het |
| Ercc8 |
T |
C |
13: 108,295,343 (GRCm39) |
S6P |
probably damaging |
Het |
| Faxc |
T |
C |
4: 21,931,672 (GRCm39) |
S37P |
probably benign |
Het |
| Fbxl19 |
T |
A |
7: 127,349,187 (GRCm39) |
I119K |
probably damaging |
Het |
| Frmd4b |
A |
G |
6: 97,302,437 (GRCm39) |
V195A |
possibly damaging |
Het |
| Fut9 |
A |
T |
4: 25,619,925 (GRCm39) |
S296R |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,533,674 (GRCm39) |
N112D |
probably benign |
Het |
| H2-Q1 |
T |
C |
17: 35,540,028 (GRCm39) |
L99P |
probably damaging |
Het |
| Helq |
A |
T |
5: 100,940,561 (GRCm39) |
I346N |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,278,976 (GRCm39) |
K2E |
possibly damaging |
Het |
| Itgae |
T |
C |
11: 73,009,322 (GRCm39) |
M502T |
possibly damaging |
Het |
| Kmt2a |
G |
A |
9: 44,729,704 (GRCm39) |
|
probably benign |
Het |
| Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,277,015 (GRCm39) |
|
probably null |
Het |
| Mgat4a |
T |
A |
1: 37,503,515 (GRCm39) |
K220* |
probably null |
Het |
| Or2t43 |
T |
C |
11: 58,457,476 (GRCm39) |
R232G |
possibly damaging |
Het |
| Or4c104 |
T |
C |
2: 88,586,255 (GRCm39) |
I255V |
possibly damaging |
Het |
| Or5b3 |
G |
A |
19: 13,388,514 (GRCm39) |
V194I |
probably benign |
Het |
| Pex5 |
A |
T |
6: 124,391,340 (GRCm39) |
M18K |
probably damaging |
Het |
| Phlda3 |
T |
C |
1: 135,694,562 (GRCm39) |
*126Q |
probably null |
Het |
| Plxna1 |
G |
T |
6: 89,297,597 (GRCm39) |
D1862E |
probably benign |
Het |
| Pold4 |
A |
T |
19: 4,282,164 (GRCm39) |
I7F |
possibly damaging |
Het |
| Prkaa1 |
A |
T |
15: 5,173,432 (GRCm39) |
I19F |
possibly damaging |
Het |
| Prl7d1 |
T |
G |
13: 27,894,125 (GRCm39) |
E148A |
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,985,892 (GRCm39) |
V1201E |
possibly damaging |
Het |
| Rab3gap1 |
T |
C |
1: 127,858,158 (GRCm39) |
C510R |
probably damaging |
Het |
| Rhbdf1 |
C |
T |
11: 32,159,970 (GRCm39) |
R802H |
probably damaging |
Het |
| Rpl18a |
A |
C |
8: 71,348,836 (GRCm39) |
F47V |
probably damaging |
Het |
| Sema5b |
C |
A |
16: 35,448,377 (GRCm39) |
|
probably null |
Het |
| Sspo |
G |
A |
6: 48,442,459 (GRCm39) |
G1985R |
probably benign |
Het |
| Tcaf2 |
C |
T |
6: 42,606,452 (GRCm39) |
A501T |
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,681,542 (GRCm39) |
D563G |
probably damaging |
Het |
| Tdh |
G |
A |
14: 63,733,281 (GRCm39) |
T155M |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,937,711 (GRCm39) |
N1654S |
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,800,609 (GRCm39) |
|
probably benign |
Het |
| Tns1 |
G |
T |
1: 74,041,482 (GRCm39) |
C136* |
probably null |
Het |
| Tomm5 |
A |
T |
4: 45,106,443 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,889,394 (GRCm39) |
F512I |
probably damaging |
Het |
| Upp1 |
T |
A |
11: 9,081,707 (GRCm39) |
H81Q |
probably benign |
Het |
| Usp42 |
A |
G |
5: 143,713,562 (GRCm39) |
S71P |
probably damaging |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,817,471 (GRCm39) |
Y238C |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,843,265 (GRCm39) |
D307G |
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 |
|
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 |
|
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'- GTGAAGTGATGGGCTCTGAAC -3'
(R):5'- TATGTCCCTTCTGCAGCAAATG -3'
Sequencing Primer
(F):5'- AAGTGATGGGCTCTGAACCTGATC -3'
(R):5'- ATGCCCCTCCCCGTCTAAAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation