Incidental Mutation 'IGL02974:Ttll6'
| ID |
406268 |
| 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 # |
IGL02974
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96047528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 709
(C709Y)
|
| 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: C605Y
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103307
Gene: ENSMUSG00000038756
AA Change: C605Y
| 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: C709Y
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: C709Y
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
C |
T |
5: 48,545,479 (GRCm39) |
T242M |
probably damaging |
Het |
| Abcg3 |
A |
T |
5: 105,116,129 (GRCm39) |
I235N |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,776,757 (GRCm39) |
L416S |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,116,079 (GRCm39) |
D165G |
probably benign |
Het |
| Aldh18a1 |
T |
A |
19: 40,557,528 (GRCm39) |
I341F |
probably damaging |
Het |
| Amn |
T |
C |
12: 111,237,575 (GRCm39) |
V7A |
probably benign |
Het |
| Apc |
C |
T |
18: 34,401,436 (GRCm39) |
|
probably benign |
Het |
| Arg2 |
T |
C |
12: 79,197,566 (GRCm39) |
Y195H |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,191,800 (GRCm39) |
M22K |
probably benign |
Het |
| Cacna1s |
T |
G |
1: 136,020,355 (GRCm39) |
N797K |
possibly damaging |
Het |
| Chd8 |
T |
A |
14: 52,439,158 (GRCm39) |
|
probably null |
Het |
| Clstn2 |
G |
A |
9: 97,414,760 (GRCm39) |
T378M |
probably damaging |
Het |
| Elf2 |
A |
G |
3: 51,165,110 (GRCm39) |
V298A |
probably damaging |
Het |
| Fbn1 |
C |
T |
2: 125,188,250 (GRCm39) |
D1530N |
probably null |
Het |
| Fcrl2 |
A |
T |
3: 87,164,704 (GRCm39) |
I274N |
possibly damaging |
Het |
| Fmo3 |
C |
T |
1: 162,810,619 (GRCm39) |
E24K |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,542,425 (GRCm39) |
N408K |
probably damaging |
Het |
| Foxn2 |
A |
T |
17: 88,770,543 (GRCm39) |
N130I |
probably damaging |
Het |
| Fscb |
T |
A |
12: 64,518,299 (GRCm39) |
I1056F |
unknown |
Het |
| Gimap5 |
A |
C |
6: 48,730,311 (GRCm39) |
T294P |
possibly damaging |
Het |
| Gm20489 |
T |
C |
X: 100,307,320 (GRCm39) |
Q11R |
probably damaging |
Het |
| Gpr3 |
T |
C |
4: 132,938,220 (GRCm39) |
T151A |
possibly damaging |
Het |
| Gzmc |
T |
A |
14: 56,471,451 (GRCm39) |
H30L |
probably damaging |
Het |
| Ints6l |
C |
A |
X: 55,552,296 (GRCm39) |
S845Y |
probably benign |
Het |
| Iqcf3 |
A |
T |
9: 106,430,844 (GRCm39) |
C101* |
probably null |
Het |
| Krt82 |
G |
A |
15: 101,459,020 (GRCm39) |
Q7* |
probably null |
Het |
| L3mbtl1 |
A |
T |
2: 162,812,103 (GRCm39) |
H716L |
possibly damaging |
Het |
| Lefty1 |
C |
A |
1: 180,762,842 (GRCm39) |
H56Q |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,390,885 (GRCm39) |
Y3004C |
probably damaging |
Het |
| Lrp10 |
C |
A |
14: 54,705,341 (GRCm39) |
S177* |
probably null |
Het |
| Naa15 |
A |
G |
3: 51,368,628 (GRCm39) |
K576R |
possibly damaging |
Het |
| Naip2 |
A |
G |
13: 100,298,186 (GRCm39) |
S617P |
probably damaging |
Het |
| Olfm1 |
T |
G |
2: 28,119,701 (GRCm39) |
N445K |
probably damaging |
Het |
| Or4ac1-ps1 |
C |
T |
2: 88,370,579 (GRCm39) |
|
silent |
Het |
| Or5b24 |
T |
G |
19: 12,912,399 (GRCm39) |
V99G |
probably benign |
Het |
| Ostm1 |
T |
A |
10: 42,559,158 (GRCm39) |
N139K |
probably damaging |
Het |
| Ovol1 |
A |
G |
19: 5,601,177 (GRCm39) |
Y205H |
probably damaging |
Het |
| Pappa |
C |
T |
4: 65,123,172 (GRCm39) |
L836F |
probably damaging |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,636,637 (GRCm39) |
K229E |
probably benign |
Het |
| Ppm1b |
T |
A |
17: 85,301,252 (GRCm39) |
V44E |
possibly damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,600,228 (GRCm39) |
F611L |
possibly damaging |
Het |
| Rev3l |
T |
A |
10: 39,738,743 (GRCm39) |
Y2832* |
probably null |
Het |
| Robo1 |
T |
A |
16: 72,803,750 (GRCm39) |
Y1099N |
probably benign |
Het |
| Sf3b1 |
T |
C |
1: 55,046,866 (GRCm39) |
H226R |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,579,553 (GRCm39) |
V570I |
probably damaging |
Het |
| Slc27a1 |
C |
A |
8: 72,036,847 (GRCm39) |
A361D |
probably damaging |
Het |
| Srp68 |
T |
C |
11: 116,137,051 (GRCm39) |
N549D |
probably benign |
Het |
| Terb1 |
G |
T |
8: 105,221,600 (GRCm39) |
S202* |
probably null |
Het |
| Tmc1 |
T |
A |
19: 20,878,208 (GRCm39) |
M96L |
probably benign |
Het |
| Tmprss11d |
A |
G |
5: 86,454,235 (GRCm39) |
V190A |
probably damaging |
Het |
| Uba1 |
A |
G |
X: 20,544,959 (GRCm39) |
H712R |
probably benign |
Het |
| Unc80 |
A |
C |
1: 66,564,817 (GRCm39) |
T835P |
possibly damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,369,292 (GRCm39) |
P94S |
possibly damaging |
Het |
| Yes1 |
C |
T |
5: 32,818,112 (GRCm39) |
A383V |
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 |
|
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 |
2016-08-02 |
Incidental Mutation