Incidental Mutation 'IGL02331:Ttll6'
| ID |
288666 |
| 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 # |
IGL02331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96026573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 119
(M119K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107680]
[ENSMUST00000167258]
|
| AlphaFold |
A4Q9E8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107680
AA Change: M15K
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756
AA Change: M15K
| 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 damaging
Transcript: ENSMUST00000167258
AA Change: M119K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: M119K
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
G |
11: 105,862,170 (GRCm39) |
F241L |
possibly damaging |
Het |
| Alx1 |
A |
G |
10: 102,858,160 (GRCm39) |
F180L |
possibly damaging |
Het |
| Apaf1 |
T |
C |
10: 90,895,481 (GRCm39) |
D428G |
probably damaging |
Het |
| Arap2 |
G |
T |
5: 62,807,025 (GRCm39) |
|
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,914,832 (GRCm39) |
Y511H |
probably damaging |
Het |
| Bmp7 |
A |
T |
2: 172,714,724 (GRCm39) |
C362S |
probably damaging |
Het |
| Bpifb9a |
A |
G |
2: 154,104,307 (GRCm39) |
D250G |
possibly damaging |
Het |
| Ccnk |
T |
A |
12: 108,155,343 (GRCm39) |
L100H |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,301,322 (GRCm39) |
I451V |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,613,192 (GRCm39) |
|
probably null |
Het |
| Cep78 |
T |
A |
19: 15,951,779 (GRCm39) |
Q342L |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,547,167 (GRCm39) |
|
probably benign |
Het |
| Cpb2 |
A |
G |
14: 75,520,844 (GRCm39) |
R420G |
possibly damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,387 (GRCm39) |
|
probably null |
Het |
| Dbnl |
T |
C |
11: 5,749,997 (GRCm39) |
*433R |
probably null |
Het |
| Elovl5 |
T |
C |
9: 77,887,181 (GRCm39) |
S191P |
possibly damaging |
Het |
| Fbxo42 |
A |
G |
4: 140,895,157 (GRCm39) |
E40G |
probably benign |
Het |
| Fpgt |
T |
C |
3: 154,793,499 (GRCm39) |
D176G |
possibly damaging |
Het |
| Gm1110 |
C |
A |
9: 26,824,583 (GRCm39) |
|
probably null |
Het |
| Grik4 |
A |
T |
9: 42,453,284 (GRCm39) |
S700R |
probably damaging |
Het |
| Herc4 |
T |
C |
10: 63,099,939 (GRCm39) |
S121P |
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,517,402 (GRCm39) |
V263A |
probably benign |
Het |
| Hsd11b1 |
A |
C |
1: 192,922,924 (GRCm39) |
L81R |
probably damaging |
Het |
| Ift122 |
T |
C |
6: 115,864,285 (GRCm39) |
M310T |
probably damaging |
Het |
| Isg20l2 |
G |
T |
3: 87,839,394 (GRCm39) |
V202L |
probably damaging |
Het |
| Klf3 |
A |
G |
5: 64,986,415 (GRCm39) |
K111E |
probably damaging |
Het |
| Kxd1 |
T |
C |
8: 70,968,090 (GRCm39) |
T128A |
probably benign |
Het |
| Lgals7 |
A |
G |
7: 28,565,143 (GRCm39) |
T94A |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,641,816 (GRCm39) |
H1382R |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,226,726 (GRCm39) |
T1434A |
possibly damaging |
Het |
| Mybl2 |
C |
T |
2: 162,916,605 (GRCm39) |
R419W |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,771,111 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,702,389 (GRCm39) |
V2138A |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,563,304 (GRCm39) |
K620N |
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 58,994,670 (GRCm39) |
|
probably null |
Het |
| Or8g21 |
A |
G |
9: 38,906,402 (GRCm39) |
S110P |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,263,532 (GRCm39) |
V105A |
probably benign |
Het |
| Pfkp |
A |
C |
13: 6,647,996 (GRCm39) |
F527V |
probably benign |
Het |
| Pilra |
C |
A |
5: 137,833,917 (GRCm39) |
G47* |
probably null |
Het |
| Pkdrej |
C |
A |
15: 85,705,528 (GRCm39) |
C136F |
probably damaging |
Het |
| Ppp1r16a |
T |
A |
15: 76,575,200 (GRCm39) |
M36K |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Rnf40 |
T |
C |
7: 127,188,999 (GRCm39) |
V124A |
probably benign |
Het |
| St7l |
A |
G |
3: 104,833,904 (GRCm39) |
T522A |
probably damaging |
Het |
| Stox2 |
G |
A |
8: 47,644,979 (GRCm39) |
P891L |
probably damaging |
Het |
| Trbv12-1 |
T |
C |
6: 41,090,972 (GRCm39) |
S115P |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,884,800 (GRCm39) |
D827G |
probably benign |
Het |
| Ufl1 |
C |
A |
4: 25,251,971 (GRCm39) |
C568F |
probably damaging |
Het |
| Usp29 |
A |
T |
7: 6,965,155 (GRCm39) |
I333F |
probably benign |
Het |
| Vta1 |
G |
A |
10: 14,581,138 (GRCm39) |
T23M |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,773,325 (GRCm39) |
D1771G |
probably damaging |
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 |
|
|
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 |
|
|
IGL02720:Ttll6
|
APN |
11 |
96,042,899 (GRCm39) |
critical splice donor site |
probably null |
|
|
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