Incidental Mutation 'R1555:Ttll6'
ID |
170233 |
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 |
039594-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1555 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 96036408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 346
(D346Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127778
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107680]
[ENSMUST00000167258]
|
AlphaFold |
A4Q9E8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107680
AA Change: D242Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103307 Gene: ENSMUSG00000038756 AA Change: D242Y
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: D346Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127778 Gene: ENSMUSG00000038756 AA Change: D346Y
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 |
0.6784 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
A |
G |
11: 105,865,727 (GRCm39) |
|
probably null |
Het |
Adamts1 |
T |
A |
16: 85,594,776 (GRCm39) |
T358S |
probably benign |
Het |
Ate1 |
A |
T |
7: 130,110,821 (GRCm39) |
F169I |
probably benign |
Het |
Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
Clcnkb |
T |
C |
4: 141,139,050 (GRCm39) |
|
probably null |
Het |
Col6a4 |
C |
T |
9: 105,878,085 (GRCm39) |
R1964Q |
possibly damaging |
Het |
Dcakd |
C |
T |
11: 102,891,039 (GRCm39) |
V17I |
probably damaging |
Het |
Dcdc5 |
T |
G |
2: 106,214,480 (GRCm39) |
|
noncoding transcript |
Het |
Erc2 |
T |
A |
14: 27,733,622 (GRCm39) |
D557E |
probably damaging |
Het |
Grid2 |
A |
T |
6: 64,406,668 (GRCm39) |
D676V |
possibly damaging |
Het |
Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
Igkv10-96 |
C |
T |
6: 68,609,365 (GRCm39) |
|
probably benign |
Het |
Mier3 |
T |
A |
13: 111,844,893 (GRCm39) |
N248K |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,702,853 (GRCm39) |
I15F |
probably damaging |
Het |
Neurl3 |
A |
G |
1: 36,305,613 (GRCm39) |
V198A |
probably benign |
Het |
Notch2 |
C |
A |
3: 98,038,656 (GRCm39) |
N1266K |
possibly damaging |
Het |
Nup107 |
A |
G |
10: 117,587,395 (GRCm39) |
|
probably benign |
Het |
Or52e8b |
T |
C |
7: 104,673,729 (GRCm39) |
I153V |
probably benign |
Het |
Or6d14 |
A |
T |
6: 116,533,787 (GRCm39) |
I134F |
probably damaging |
Het |
Phf3 |
G |
T |
1: 30,844,958 (GRCm39) |
H1334N |
possibly damaging |
Het |
Phyhd1 |
T |
A |
2: 30,164,718 (GRCm39) |
I100N |
probably damaging |
Het |
Rad21l |
T |
A |
2: 151,500,348 (GRCm39) |
T224S |
probably benign |
Het |
Rxra |
C |
T |
2: 27,638,690 (GRCm39) |
A231V |
probably benign |
Het |
Sac3d1 |
T |
C |
19: 6,168,435 (GRCm39) |
D61G |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,189,279 (GRCm39) |
Y481H |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,927,858 (GRCm39) |
E642G |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,006,315 (GRCm39) |
Y159C |
probably damaging |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Tedc1 |
G |
T |
12: 113,120,117 (GRCm39) |
|
probably benign |
Het |
Tmem200a |
A |
T |
10: 25,869,782 (GRCm39) |
D162E |
probably damaging |
Het |
Tmprss11e |
T |
A |
5: 86,863,447 (GRCm39) |
Q206L |
probably damaging |
Het |
Tpra1 |
A |
G |
6: 88,887,185 (GRCm39) |
N175S |
probably damaging |
Het |
Ttll10 |
T |
C |
4: 156,119,596 (GRCm39) |
E601G |
probably benign |
Het |
U2surp |
A |
G |
9: 95,348,630 (GRCm39) |
V874A |
probably damaging |
Het |
Vwa5b1 |
T |
C |
4: 138,332,788 (GRCm39) |
K258R |
probably benign |
Het |
Xkr6 |
A |
G |
14: 64,056,374 (GRCm39) |
Y95C |
unknown |
Het |
Zfp180 |
T |
C |
7: 23,800,999 (GRCm39) |
|
probably benign |
Het |
Zfp90 |
A |
G |
8: 107,150,727 (GRCm39) |
T147A |
probably benign |
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 |
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'- ATGGCATCAGCATCGGCATCTC -3'
(R):5'- CATTCCTCAGCTAAGCGTGACACC -3'
Sequencing Primer
(F):5'- GGACCAGGAATGATTCCCCTC -3'
(R):5'- GAACTAATCCAGGTGAACCAGGA -3'
|
Posted On |
2014-04-13 |