Incidental Mutation 'IGL02720:Ttll6'
| ID |
304985 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttll6
|
| Ensembl Gene |
ENSMUSG00000038756 |
| Gene Name |
tubulin tyrosine ligase-like family, member 6 |
| Synonyms |
t8130b59, 4932418K24Rik, D11Moh44e, D11Moh43e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02720
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 96042899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107680]
[ENSMUST00000107680]
[ENSMUST00000167258]
[ENSMUST00000167258]
|
| AlphaFold |
A4Q9E8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000107680
|
| SMART Domains |
Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
1 |
293 |
4.4e-90 |
PFAM |
|
coiled coil region
|
376 |
402 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107680
|
| SMART Domains |
Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
1 |
293 |
4.4e-90 |
PFAM |
|
coiled coil region
|
376 |
402 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167258
|
| SMART Domains |
Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
59 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
103 |
397 |
2.9e-90 |
PFAM |
|
coiled coil region
|
480 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167258
|
| SMART Domains |
Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
59 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
103 |
397 |
2.9e-90 |
PFAM |
|
coiled coil region
|
480 |
506 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,122,702 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,726,991 (GRCm39) |
S454P |
probably damaging |
Het |
| Adh4 |
A |
T |
3: 138,124,981 (GRCm39) |
I51F |
possibly damaging |
Het |
| Amigo2 |
A |
T |
15: 97,143,578 (GRCm39) |
C281* |
probably null |
Het |
| Btn2a2 |
C |
T |
13: 23,664,637 (GRCm39) |
R307Q |
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,090,307 (GRCm39) |
I483M |
probably damaging |
Het |
| Capn9 |
T |
C |
8: 125,327,236 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,744,867 (GRCm39) |
K1279E |
probably damaging |
Het |
| Cdadc1 |
T |
C |
14: 59,823,496 (GRCm39) |
Y332C |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cep112 |
T |
G |
11: 108,750,177 (GRCm39) |
F893L |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,133,511 (GRCm39) |
S1867G |
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,762,721 (GRCm39) |
|
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,292,368 (GRCm39) |
|
probably benign |
Het |
| Dlx3 |
G |
T |
11: 95,014,470 (GRCm39) |
W251L |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,984,177 (GRCm39) |
V3993M |
probably damaging |
Het |
| Efs |
A |
T |
14: 55,157,172 (GRCm39) |
Y380N |
probably damaging |
Het |
| Fam53c |
T |
A |
18: 34,903,720 (GRCm39) |
W331R |
probably damaging |
Het |
| Gm5414 |
T |
C |
15: 101,533,990 (GRCm39) |
E331G |
probably damaging |
Het |
| Gstcd |
A |
G |
3: 132,777,722 (GRCm39) |
V363A |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,021,647 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
A |
G |
8: 95,834,993 (GRCm39) |
V264A |
probably benign |
Het |
| Mapk8ip2 |
A |
G |
15: 89,341,785 (GRCm39) |
D332G |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,323,146 (GRCm39) |
E2075K |
probably damaging |
Het |
| Opn5 |
T |
G |
17: 42,907,517 (GRCm39) |
S120R |
probably damaging |
Het |
| Or52m2 |
C |
T |
7: 102,264,046 (GRCm39) |
G50E |
probably damaging |
Het |
| Paqr8 |
C |
T |
1: 21,005,733 (GRCm39) |
Q296* |
probably null |
Het |
| Pcsk6 |
C |
T |
7: 65,629,995 (GRCm39) |
R374* |
probably null |
Het |
| Pld1 |
A |
G |
3: 28,141,411 (GRCm39) |
H469R |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,041,349 (GRCm39) |
S93P |
possibly damaging |
Het |
| Reln |
C |
T |
5: 22,202,939 (GRCm39) |
R1287Q |
probably damaging |
Het |
| Rev3l |
C |
T |
10: 39,698,391 (GRCm39) |
R963* |
probably null |
Het |
| Serinc4 |
C |
T |
2: 121,282,908 (GRCm39) |
S418N |
probably benign |
Het |
| Slc6a18 |
A |
G |
13: 73,818,087 (GRCm39) |
M310T |
probably benign |
Het |
| Slitrk3 |
T |
A |
3: 72,958,101 (GRCm39) |
S224C |
probably damaging |
Het |
| Slu7 |
T |
C |
11: 43,336,030 (GRCm39) |
I471T |
probably benign |
Het |
| Stxbp5 |
A |
G |
10: 9,665,105 (GRCm39) |
|
probably null |
Het |
| Tm7sf3 |
A |
T |
6: 146,514,872 (GRCm39) |
|
probably benign |
Het |
| Trem1 |
C |
T |
17: 48,539,869 (GRCm39) |
S16L |
probably benign |
Het |
| Trp53bp2 |
T |
A |
1: 182,281,289 (GRCm39) |
D963E |
probably benign |
Het |
| Trp63 |
A |
T |
16: 25,682,491 (GRCm39) |
D184V |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,897,817 (GRCm39) |
|
probably null |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,305 (GRCm39) |
N89K |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,914 (GRCm39) |
R688G |
probably benign |
Het |
| Vmn2r93 |
A |
T |
17: 18,525,296 (GRCm39) |
H318L |
probably damaging |
Het |
| Vstm4 |
A |
G |
14: 32,585,574 (GRCm39) |
H47R |
probably damaging |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
| Ybx2 |
T |
A |
11: 69,831,157 (GRCm39) |
S56T |
probably benign |
Het |
| Ybx2 |
C |
A |
11: 69,831,158 (GRCm39) |
S251Y |
probably benign |
Het |
| Zbtb3 |
T |
C |
19: 8,781,578 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ttll6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02152:Ttll6
|
APN |
11 |
96,026,366 (GRCm39) |
nonsense |
probably null |
|
|
IGL02331:Ttll6
|
APN |
11 |
96,026,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02490:Ttll6
|
APN |
11 |
96,047,546 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02551:Ttll6
|
APN |
11 |
96,045,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02618:Ttll6
|
APN |
11 |
96,038,388 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02712:Ttll6
|
APN |
11 |
96,030,601 (GRCm39) |
critical splice donor site |
probably benign |
|
|
IGL02839:Ttll6
|
APN |
11 |
96,049,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Ttll6
|
APN |
11 |
96,047,528 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03038:Ttll6
|
APN |
11 |
96,042,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03216:Ttll6
|
APN |
11 |
96,042,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03271:Ttll6
|
APN |
11 |
96,047,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
LCD18:Ttll6
|
UTSW |
11 |
96,046,084 (GRCm39) |
intron |
probably benign |
|
|
R0295:Ttll6
|
UTSW |
11 |
96,045,540 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0310:Ttll6
|
UTSW |
11 |
96,038,382 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0466:Ttll6
|
UTSW |
11 |
96,036,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Ttll6
|
UTSW |
11 |
96,045,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1195:Ttll6
|
UTSW |
11 |
96,026,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Ttll6
|
UTSW |
11 |
96,026,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Ttll6
|
UTSW |
11 |
96,026,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1453:Ttll6
|
UTSW |
11 |
96,049,714 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1555:Ttll6
|
UTSW |
11 |
96,036,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Ttll6
|
UTSW |
11 |
96,029,700 (GRCm39) |
nonsense |
probably null |
|
|
R1861:Ttll6
|
UTSW |
11 |
96,029,700 (GRCm39) |
nonsense |
probably null |
|
|
R1998:Ttll6
|
UTSW |
11 |
96,030,601 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2034:Ttll6
|
UTSW |
11 |
96,026,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2126:Ttll6
|
UTSW |
11 |
96,038,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Ttll6
|
UTSW |
11 |
96,024,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4684:Ttll6
|
UTSW |
11 |
96,044,003 (GRCm39) |
missense |
probably benign |
|
|
R4747:Ttll6
|
UTSW |
11 |
96,036,372 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4771:Ttll6
|
UTSW |
11 |
96,024,655 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4955:Ttll6
|
UTSW |
11 |
96,029,615 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5042:Ttll6
|
UTSW |
11 |
96,045,430 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5910:Ttll6
|
UTSW |
11 |
96,026,415 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5951:Ttll6
|
UTSW |
11 |
96,036,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Ttll6
|
UTSW |
11 |
96,025,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Ttll6
|
UTSW |
11 |
96,025,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6134:Ttll6
|
UTSW |
11 |
96,030,568 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6263:Ttll6
|
UTSW |
11 |
96,047,371 (GRCm39) |
missense |
probably benign |
|
|
R6325:Ttll6
|
UTSW |
11 |
96,026,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Ttll6
|
UTSW |
11 |
96,047,414 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6453:Ttll6
|
UTSW |
11 |
96,049,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6681:Ttll6
|
UTSW |
11 |
96,029,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7481:Ttll6
|
UTSW |
11 |
96,045,672 (GRCm39) |
missense |
probably benign |
|
|
R7574:Ttll6
|
UTSW |
11 |
96,025,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8130:Ttll6
|
UTSW |
11 |
96,047,425 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8771:Ttll6
|
UTSW |
11 |
96,042,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Ttll6
|
UTSW |
11 |
96,047,492 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9452:Ttll6
|
UTSW |
11 |
96,026,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9547:Ttll6
|
UTSW |
11 |
96,049,588 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9581:Ttll6
|
UTSW |
11 |
96,049,572 (GRCm39) |
missense |
probably benign |
0.31 |
|
X0022:Ttll6
|
UTSW |
11 |
96,049,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Ttll6
|
UTSW |
11 |
96,025,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation