Incidental Mutation 'R3722:Ttll6'
| ID |
258980 |
| 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 |
040713-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3722 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96024747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 46
(N46D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107680]
[ENSMUST00000167258]
|
| AlphaFold |
A4Q9E8 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000167258
AA Change: N46D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127778
Gene: ENSMUSG00000038756
AA Change: N46D
| 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 |
0.0716 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,216,254 (GRCm39) |
S1485T |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,120,351 (GRCm39) |
Y3589C |
probably damaging |
Het |
| Alkbh8 |
T |
C |
9: 3,385,153 (GRCm39) |
Y482H |
probably damaging |
Het |
| Appl1 |
G |
A |
14: 26,649,801 (GRCm39) |
T575M |
probably damaging |
Het |
| Arhgap21 |
T |
C |
2: 20,855,102 (GRCm39) |
E1420G |
probably damaging |
Het |
| Asic3 |
A |
T |
5: 24,621,997 (GRCm39) |
Y419F |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,672,624 (GRCm39) |
Y279C |
probably damaging |
Het |
| Braf |
G |
A |
6: 39,600,610 (GRCm39) |
P616L |
probably damaging |
Het |
| Btnl2 |
T |
C |
17: 34,577,109 (GRCm39) |
M88T |
possibly damaging |
Het |
| C1rb |
T |
A |
6: 124,557,620 (GRCm39) |
Y586N |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 135,996,780 (GRCm39) |
F127S |
possibly damaging |
Het |
| Cd47 |
A |
G |
16: 49,688,205 (GRCm39) |
I42V |
probably benign |
Het |
| Cox8b |
T |
A |
7: 140,478,918 (GRCm39) |
K66* |
probably null |
Het |
| Diras2 |
T |
A |
13: 52,662,059 (GRCm39) |
I83F |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,361,008 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Dnai1 |
G |
A |
4: 41,602,615 (GRCm39) |
R113H |
probably damaging |
Het |
| Dolpp1 |
T |
C |
2: 30,287,500 (GRCm39) |
L204P |
probably damaging |
Het |
| Fam170a |
C |
T |
18: 50,415,271 (GRCm39) |
P306S |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,550,268 (GRCm39) |
|
probably null |
Het |
| Fndc3a |
T |
A |
14: 72,777,648 (GRCm39) |
I1186F |
probably benign |
Het |
| Gm12886 |
T |
A |
4: 121,274,667 (GRCm39) |
D71V |
probably damaging |
Het |
| H3c8 |
T |
C |
13: 23,719,722 (GRCm39) |
V36A |
possibly damaging |
Het |
| Ica1 |
A |
G |
6: 8,659,021 (GRCm39) |
|
probably benign |
Het |
| Ighv8-11 |
A |
G |
12: 115,530,771 (GRCm39) |
I119T |
possibly damaging |
Het |
| Ism1 |
A |
T |
2: 139,573,931 (GRCm39) |
R94* |
probably null |
Het |
| Kbtbd11 |
T |
A |
8: 15,079,118 (GRCm39) |
C572* |
probably null |
Het |
| Kcnk15 |
T |
C |
2: 163,700,214 (GRCm39) |
L132P |
probably damaging |
Het |
| Lrmda |
T |
A |
14: 22,077,399 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
A |
G |
15: 81,987,405 (GRCm39) |
H399R |
possibly damaging |
Het |
| Mrtfb |
C |
T |
16: 13,203,557 (GRCm39) |
A201V |
probably damaging |
Het |
| Ncstn |
G |
A |
1: 171,895,462 (GRCm39) |
T562M |
possibly damaging |
Het |
| Nudt4 |
A |
T |
10: 95,385,367 (GRCm39) |
|
probably null |
Het |
| Omp |
T |
C |
7: 97,794,420 (GRCm39) |
N69S |
probably benign |
Het |
| Or10d3 |
A |
C |
9: 39,461,418 (GRCm39) |
C250G |
probably damaging |
Het |
| Or4a75 |
A |
T |
2: 89,448,503 (GRCm39) |
I11N |
possibly damaging |
Het |
| Pak1 |
C |
T |
7: 97,503,704 (GRCm39) |
P13L |
probably damaging |
Het |
| Pde4d |
T |
A |
13: 110,087,866 (GRCm39) |
C744* |
probably null |
Het |
| Pelp1 |
T |
C |
11: 70,289,026 (GRCm39) |
Y240C |
possibly damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,259,619 (GRCm39) |
D353G |
probably damaging |
Het |
| Ptprs |
A |
G |
17: 56,724,485 (GRCm39) |
F1152S |
probably damaging |
Het |
| Rnf135 |
G |
T |
11: 80,087,743 (GRCm39) |
A231S |
probably benign |
Het |
| Rpn1 |
G |
A |
6: 88,067,282 (GRCm39) |
|
probably null |
Het |
| Rreb1 |
T |
A |
13: 38,131,074 (GRCm39) |
D1409E |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,200,323 (GRCm39) |
H668Y |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 44,967,685 (GRCm39) |
I138N |
probably damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,065,321 (GRCm39) |
K187E |
possibly damaging |
Het |
| Slc44a2 |
A |
T |
9: 21,254,273 (GRCm39) |
I212F |
possibly damaging |
Het |
| Slc7a1 |
G |
A |
5: 148,272,343 (GRCm39) |
R445* |
probably null |
Het |
| Snapc4 |
A |
G |
2: 26,255,440 (GRCm39) |
L1028P |
probably benign |
Het |
| Snrnp40 |
C |
T |
4: 130,262,068 (GRCm39) |
T152I |
possibly damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,851,472 (GRCm39) |
E228G |
probably benign |
Het |
| Spink4 |
T |
A |
4: 40,929,136 (GRCm39) |
C54S |
probably damaging |
Het |
| Tex2 |
C |
T |
11: 106,437,566 (GRCm39) |
W203* |
probably null |
Het |
| Tmcc1 |
T |
C |
6: 116,110,783 (GRCm39) |
E170G |
possibly damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Txk |
T |
A |
5: 72,865,078 (GRCm39) |
K266* |
probably null |
Het |
| Uggt2 |
T |
C |
14: 119,278,930 (GRCm39) |
E859G |
probably damaging |
Het |
| Uros |
A |
T |
7: 133,304,120 (GRCm39) |
M1K |
probably null |
Het |
| Vps13b |
T |
A |
15: 35,671,528 (GRCm39) |
I1677N |
probably damaging |
Het |
| Zbtb5 |
A |
G |
4: 44,994,863 (GRCm39) |
|
probably null |
Het |
| Zfp760 |
A |
G |
17: 21,941,143 (GRCm39) |
Y106C |
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 |
|
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 |
|
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'- GAGGACTGATGTTTCCCCAG -3'
(R):5'- CACTGAAATTGGTGTGAGCCAG -3'
Sequencing Primer
(F):5'- GACTGATGTTTCCCCAGAGCCTC -3'
(R):5'- AGGAGACAAGCCCTGTGTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation