Incidental Mutation 'IGL02490:Ttll6'
ID |
295581 |
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 # |
IGL02490
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 96047546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 715
(D715V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127778
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107680]
[ENSMUST00000167258]
|
AlphaFold |
A4Q9E8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107680
AA Change: D611V
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103307 Gene: ENSMUSG00000038756 AA Change: D611V
Domain | Start | End | E-Value | Type |
Pfam:TTL
|
1 |
293 |
4.4e-90 |
PFAM |
coiled coil region
|
376 |
402 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167258
AA Change: D715V
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000127778 Gene: ENSMUSG00000038756 AA Change: D715V
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D06Rik |
A |
G |
6: 89,078,559 (GRCm39) |
|
noncoding transcript |
Het |
Adam5 |
A |
T |
8: 25,271,720 (GRCm39) |
Y562* |
probably null |
Het |
Akr1d1 |
T |
C |
6: 37,535,423 (GRCm39) |
V269A |
probably damaging |
Het |
Anks4b |
A |
G |
7: 119,773,241 (GRCm39) |
T34A |
probably damaging |
Het |
Arhgef40 |
A |
G |
14: 52,226,652 (GRCm39) |
N232S |
probably damaging |
Het |
Cdc40 |
C |
T |
10: 40,717,767 (GRCm39) |
V379I |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cdh13 |
A |
G |
8: 119,822,062 (GRCm39) |
D307G |
probably damaging |
Het |
Ces1h |
A |
G |
8: 94,083,627 (GRCm39) |
|
probably null |
Het |
Chchd6 |
T |
A |
6: 89,361,656 (GRCm39) |
H249L |
possibly damaging |
Het |
Clxn |
T |
A |
16: 14,734,810 (GRCm39) |
V60E |
probably benign |
Het |
Cul1 |
T |
C |
6: 47,491,820 (GRCm39) |
V392A |
probably damaging |
Het |
Cwc15 |
A |
T |
9: 14,413,320 (GRCm39) |
D34V |
probably damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,527,446 (GRCm39) |
I264T |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,897,148 (GRCm39) |
D789G |
probably damaging |
Het |
Dcdc2a |
T |
A |
13: 25,291,635 (GRCm39) |
Y207N |
probably damaging |
Het |
Flt3 |
T |
A |
5: 147,268,106 (GRCm39) |
N960Y |
probably damaging |
Het |
Fmn1 |
C |
T |
2: 113,359,817 (GRCm39) |
|
probably benign |
Het |
Foxm1 |
T |
A |
6: 128,350,314 (GRCm39) |
C400* |
probably null |
Het |
Ftmt |
A |
C |
18: 52,464,760 (GRCm39) |
R25S |
probably benign |
Het |
Guca1b |
T |
C |
17: 47,700,190 (GRCm39) |
|
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,456,676 (GRCm39) |
K680N |
possibly damaging |
Het |
Hephl1 |
C |
A |
9: 14,964,981 (GRCm39) |
R1138L |
probably benign |
Het |
Il1rl2 |
T |
A |
1: 40,395,972 (GRCm39) |
|
probably benign |
Het |
Ints2 |
A |
T |
11: 86,124,009 (GRCm39) |
I593K |
possibly damaging |
Het |
Iqcg |
T |
A |
16: 32,855,937 (GRCm39) |
K213* |
probably null |
Het |
Kif1b |
T |
A |
4: 149,288,665 (GRCm39) |
S1259C |
probably benign |
Het |
Klc1 |
C |
T |
12: 111,748,210 (GRCm39) |
T371M |
possibly damaging |
Het |
Loxl4 |
T |
C |
19: 42,593,269 (GRCm39) |
T301A |
probably benign |
Het |
Lrrc40 |
T |
C |
3: 157,768,336 (GRCm39) |
L497P |
probably damaging |
Het |
Masp2 |
C |
T |
4: 148,692,400 (GRCm39) |
R298W |
possibly damaging |
Het |
Myo5a |
A |
T |
9: 75,043,737 (GRCm39) |
Y242F |
probably damaging |
Het |
Nup98 |
A |
G |
7: 101,801,573 (GRCm39) |
V784A |
probably damaging |
Het |
Or5w15 |
T |
C |
2: 87,568,299 (GRCm39) |
Y123C |
probably damaging |
Het |
Osbpl1a |
G |
T |
18: 13,015,341 (GRCm39) |
|
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,334,922 (GRCm39) |
Y412C |
probably damaging |
Het |
Pfkfb2 |
T |
A |
1: 130,628,589 (GRCm39) |
Y339F |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,550,241 (GRCm39) |
N172D |
probably damaging |
Het |
Plec |
T |
C |
15: 76,073,463 (GRCm39) |
Y517C |
probably damaging |
Het |
Plod2 |
G |
T |
9: 92,468,895 (GRCm39) |
A207S |
probably benign |
Het |
Plxdc1 |
A |
T |
11: 97,845,604 (GRCm39) |
D229E |
probably benign |
Het |
Ppp3cb |
A |
G |
14: 20,581,726 (GRCm39) |
|
probably null |
Het |
Procr |
T |
C |
2: 155,595,352 (GRCm39) |
L52P |
probably damaging |
Het |
Psme2b |
G |
T |
11: 48,836,946 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
G |
A |
15: 36,054,993 (GRCm39) |
A727V |
probably damaging |
Het |
Rock2 |
T |
A |
12: 16,998,564 (GRCm39) |
W277R |
probably damaging |
Het |
Rpl26 |
A |
G |
11: 68,795,216 (GRCm39) |
D112G |
probably damaging |
Het |
Rxfp1 |
C |
A |
3: 79,559,474 (GRCm39) |
|
probably null |
Het |
Sdr39u1 |
G |
A |
14: 56,135,798 (GRCm39) |
P98L |
probably damaging |
Het |
Sgms1 |
T |
C |
19: 32,137,543 (GRCm39) |
K8E |
probably damaging |
Het |
Stk31 |
T |
C |
6: 49,394,469 (GRCm39) |
V277A |
probably benign |
Het |
Trav15-1-dv6-1 |
A |
C |
14: 53,797,588 (GRCm39) |
E79A |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,542,561 (GRCm39) |
S3376P |
probably damaging |
Het |
Vmn2r109 |
T |
A |
17: 20,761,246 (GRCm39) |
T704S |
possibly damaging |
Het |
Zfp27 |
T |
A |
7: 29,594,360 (GRCm39) |
H535L |
possibly damaging |
Het |
Zfp609 |
A |
T |
9: 65,611,250 (GRCm39) |
V571D |
possibly damaging |
Het |
Zfp874a |
A |
T |
13: 67,590,819 (GRCm39) |
Y288* |
probably null |
Het |
Zfp993 |
T |
C |
4: 146,742,074 (GRCm39) |
S133P |
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 |
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 |
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 |
2015-04-16 |