Incidental Mutation 'R0533:Ttll6'
ID |
49334 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttll6
|
Ensembl Gene |
ENSMUSG00000038756 |
Gene Name |
tubulin tyrosine ligase-like family, member 6 |
Synonyms |
t8130b59, 4932418K24Rik, D11Moh44e, D11Moh43e |
MMRRC Submission |
038725-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0533 (G1)
|
Quality Score |
215 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 96045582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 600
(A600T)
|
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: A496T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103307 Gene: ENSMUSG00000038756 AA Change: A496T
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: A600T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000127778 Gene: ENSMUSG00000038756 AA Change: A600T
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
T |
G |
8: 60,984,797 (GRCm39) |
|
probably benign |
Het |
Abcb1b |
A |
T |
5: 8,914,113 (GRCm39) |
|
probably null |
Het |
Adcy10 |
A |
G |
1: 165,391,592 (GRCm39) |
N1283S |
probably benign |
Het |
Adgrb1 |
T |
A |
15: 74,413,408 (GRCm39) |
W531R |
probably damaging |
Het |
Ago4 |
A |
G |
4: 126,410,653 (GRCm39) |
V246A |
probably benign |
Het |
Arid5b |
A |
T |
10: 68,021,863 (GRCm39) |
D242E |
probably damaging |
Het |
Arpp21 |
A |
G |
9: 111,955,573 (GRCm39) |
V522A |
probably benign |
Het |
Atg4b |
T |
A |
1: 93,712,632 (GRCm39) |
|
probably benign |
Het |
Capn12 |
T |
C |
7: 28,587,108 (GRCm39) |
F359S |
possibly damaging |
Het |
Ccdc88c |
A |
T |
12: 100,920,541 (GRCm39) |
I360N |
probably damaging |
Het |
Clic3 |
A |
G |
2: 25,348,150 (GRCm39) |
Y99C |
probably damaging |
Het |
Cux1 |
T |
C |
5: 136,336,713 (GRCm39) |
E925G |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,852,314 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
G |
11: 118,001,363 (GRCm39) |
V860A |
possibly damaging |
Het |
Etv5 |
C |
T |
16: 22,254,825 (GRCm39) |
|
probably benign |
Het |
Fam83a |
T |
A |
15: 57,873,207 (GRCm39) |
N345K |
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gpm6a |
A |
G |
8: 55,508,409 (GRCm39) |
|
probably null |
Het |
Grid1 |
T |
A |
14: 35,031,342 (GRCm39) |
Y312N |
possibly damaging |
Het |
Gstm4 |
T |
C |
3: 107,950,841 (GRCm39) |
N51S |
probably benign |
Het |
Hid1 |
A |
T |
11: 115,239,635 (GRCm39) |
I765N |
probably damaging |
Het |
Hmmr |
A |
G |
11: 40,600,816 (GRCm39) |
V518A |
unknown |
Het |
Itgb6 |
A |
G |
2: 60,499,541 (GRCm39) |
V84A |
probably benign |
Het |
Kbtbd4 |
A |
G |
2: 90,737,948 (GRCm39) |
K233E |
probably benign |
Het |
Kif15 |
A |
T |
9: 122,838,498 (GRCm39) |
|
probably benign |
Het |
Klre1 |
T |
C |
6: 129,560,156 (GRCm39) |
S143P |
probably damaging |
Het |
Krt81 |
T |
C |
15: 101,359,270 (GRCm39) |
D216G |
probably benign |
Het |
Mctp2 |
G |
T |
7: 71,730,570 (GRCm39) |
H868Q |
probably benign |
Het |
Morc2b |
G |
C |
17: 33,354,906 (GRCm39) |
Y955* |
probably null |
Het |
Myog |
A |
C |
1: 134,218,211 (GRCm39) |
N140H |
possibly damaging |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Neil3 |
A |
T |
8: 54,091,810 (GRCm39) |
|
probably null |
Het |
Nrg1 |
T |
C |
8: 32,321,273 (GRCm39) |
|
probably null |
Het |
Or1o4 |
A |
T |
17: 37,591,182 (GRCm39) |
L43* |
probably null |
Het |
Or56a3b |
G |
A |
7: 104,771,557 (GRCm39) |
V298I |
probably benign |
Het |
Or56b35 |
A |
T |
7: 104,963,579 (GRCm39) |
M123L |
probably benign |
Het |
Pramel16 |
A |
T |
4: 143,677,290 (GRCm39) |
D96E |
possibly damaging |
Het |
Pramel23 |
G |
T |
4: 143,424,590 (GRCm39) |
C284* |
probably null |
Het |
Ptger2 |
T |
A |
14: 45,226,439 (GRCm39) |
N6K |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,778,205 (GRCm39) |
E2097V |
probably damaging |
Het |
Sel1l |
A |
T |
12: 91,786,868 (GRCm39) |
F397Y |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,685,064 (GRCm39) |
V551A |
unknown |
Het |
Slc39a12 |
A |
G |
2: 14,405,142 (GRCm39) |
T245A |
probably benign |
Het |
Syne1 |
C |
T |
10: 5,308,438 (GRCm39) |
V706I |
probably benign |
Het |
Tbc1d8 |
G |
T |
1: 39,411,855 (GRCm39) |
Q994K |
possibly damaging |
Het |
Tnrc6b |
C |
T |
15: 80,760,854 (GRCm39) |
T187I |
probably benign |
Het |
Ust |
T |
C |
10: 8,123,844 (GRCm39) |
|
probably benign |
Het |
Vmn2r71 |
GT |
GTT |
7: 85,268,426 (GRCm39) |
|
probably null |
Het |
Vstm2a |
C |
T |
11: 16,213,041 (GRCm39) |
A142V |
probably damaging |
Het |
Wfs1 |
T |
A |
5: 37,131,066 (GRCm39) |
|
probably benign |
Het |
Wrap73 |
G |
A |
4: 154,236,106 (GRCm39) |
G145D |
probably damaging |
Het |
Wrap73 |
G |
A |
4: 154,240,611 (GRCm39) |
V368M |
possibly damaging |
Het |
Xrra1 |
T |
A |
7: 99,524,352 (GRCm39) |
|
probably null |
Het |
Zfhx2 |
C |
T |
14: 55,301,547 (GRCm39) |
V2146I |
probably benign |
Het |
Zfp335 |
A |
T |
2: 164,749,842 (GRCm39) |
L185* |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACCTTAGTATCCTGCACATCTGGC -3'
(R):5'- GATGGCTCAGCGGTTCTAATACCAC -3'
Sequencing Primer
(F):5'- GCTTGCTCTTGAACATCAGAGG -3'
(R):5'- AGCAGATATGCCGTTCCACTG -3'
|
Posted On |
2013-06-12 |