Incidental Mutation 'IGL03216:Ttll6'
ID |
413491 |
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 # |
IGL03216
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96042840 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 462
(D462G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127778
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107680]
[ENSMUST00000167258]
|
AlphaFold |
A4Q9E8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107680
AA Change: D358G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000103307 Gene: ENSMUSG00000038756 AA Change: D358G
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 benign
Transcript: ENSMUST00000167258
AA Change: D462G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000127778 Gene: ENSMUSG00000038756 AA Change: D462G
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano10 |
A |
T |
9: 122,086,127 (GRCm39) |
Y491N |
probably damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,558,840 (GRCm39) |
F709L |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,439,944 (GRCm38) |
I1196T |
probably damaging |
Het |
Cage1 |
T |
C |
13: 38,190,153 (GRCm39) |
|
probably benign |
Het |
Cep350 |
A |
T |
1: 155,736,373 (GRCm39) |
C2888S |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,844,932 (GRCm39) |
T46A |
possibly damaging |
Het |
Cyp2d26 |
T |
C |
15: 82,677,462 (GRCm39) |
M76V |
probably benign |
Het |
Fermt3 |
A |
T |
19: 6,976,748 (GRCm39) |
D653E |
probably benign |
Het |
Foxj3 |
A |
G |
4: 119,467,180 (GRCm39) |
|
probably benign |
Het |
Gm21985 |
T |
A |
2: 112,097,281 (GRCm39) |
S39T |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,386,228 (GRCm39) |
D3727V |
probably benign |
Het |
Ifi208 |
A |
T |
1: 173,506,507 (GRCm39) |
T97S |
possibly damaging |
Het |
Iqgap1 |
T |
C |
7: 80,392,836 (GRCm39) |
E709G |
probably benign |
Het |
Itgb5 |
T |
A |
16: 33,723,208 (GRCm39) |
H361Q |
probably benign |
Het |
Mr1 |
T |
A |
1: 155,005,035 (GRCm39) |
N335I |
possibly damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,351,582 (GRCm39) |
F684I |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,455,721 (GRCm39) |
I2544F |
probably benign |
Het |
Or6c1b |
A |
G |
10: 129,272,806 (GRCm39) |
T42A |
probably damaging |
Het |
Pnp2 |
T |
G |
14: 51,200,654 (GRCm39) |
S107A |
probably benign |
Het |
Pomt1 |
A |
G |
2: 32,132,955 (GRCm39) |
I184V |
probably damaging |
Het |
Slc6a19 |
T |
G |
13: 73,834,300 (GRCm39) |
M301L |
probably benign |
Het |
Smarca5 |
T |
C |
8: 81,446,287 (GRCm39) |
Y471C |
probably damaging |
Het |
Syne2 |
A |
T |
12: 75,989,735 (GRCm39) |
|
probably benign |
Het |
Tasor2 |
C |
T |
13: 3,624,553 (GRCm39) |
C1799Y |
probably damaging |
Het |
Tex55 |
T |
C |
16: 38,649,052 (GRCm39) |
D19G |
possibly damaging |
Het |
Trmt6 |
T |
C |
2: 132,650,618 (GRCm39) |
N330S |
probably null |
Het |
Tsc22d1 |
T |
C |
14: 76,656,077 (GRCm39) |
V770A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,775,393 (GRCm39) |
H1883R |
probably damaging |
Het |
Ubxn10 |
C |
T |
4: 138,448,050 (GRCm39) |
V209M |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,585,002 (GRCm39) |
T540A |
probably benign |
Het |
Vmn2r17 |
A |
T |
5: 109,600,756 (GRCm39) |
R685W |
probably damaging |
Het |
Vps4a |
C |
T |
8: 107,763,335 (GRCm39) |
R30C |
probably damaging |
Het |
Xpo6 |
A |
G |
7: 125,703,985 (GRCm39) |
V1055A |
probably damaging |
Het |
Zfp445 |
C |
T |
9: 122,681,043 (GRCm39) |
C966Y |
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 |
|
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 |
|
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 |
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 |
2016-08-02 |