Incidental Mutation 'IGL02152:Ttll6'
ID |
282042 |
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 # |
IGL02152
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
96024612-96056277 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 96026366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 90
(W90*)
|
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 null
Transcript: ENSMUST00000167258
AA Change: W90*
|
SMART Domains |
Protein: ENSMUSP00000127778 Gene: ENSMUSG00000038756 AA Change: W90*
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
G |
5: 107,695,983 (GRCm39) |
T140A |
probably benign |
Het |
4933430I17Rik |
T |
C |
4: 62,460,991 (GRCm39) |
Y289H |
possibly damaging |
Het |
Adamts17 |
T |
A |
7: 66,774,748 (GRCm39) |
S956T |
probably benign |
Het |
Adamts6 |
A |
T |
13: 104,450,168 (GRCm39) |
S290C |
probably null |
Het |
Apaf1 |
A |
T |
10: 90,897,681 (GRCm39) |
H267Q |
probably benign |
Het |
Aplp2 |
G |
A |
9: 31,122,947 (GRCm39) |
P26L |
unknown |
Het |
Arid1b |
C |
T |
17: 5,364,243 (GRCm39) |
S1019F |
probably damaging |
Het |
Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
Ass1 |
T |
C |
2: 31,382,336 (GRCm39) |
I169T |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 61,288,692 (GRCm39) |
D285G |
possibly damaging |
Het |
Cenpf |
A |
G |
1: 189,381,209 (GRCm39) |
V2737A |
probably benign |
Het |
Chrm5 |
A |
G |
2: 112,310,913 (GRCm39) |
Y68H |
probably damaging |
Het |
Cops4 |
A |
G |
5: 100,681,456 (GRCm39) |
T164A |
probably benign |
Het |
Cox4i1 |
A |
G |
8: 121,399,604 (GRCm39) |
S72G |
probably benign |
Het |
Cpox |
A |
G |
16: 58,494,787 (GRCm39) |
T275A |
possibly damaging |
Het |
Cyb5a |
T |
C |
18: 84,891,281 (GRCm39) |
I68T |
probably benign |
Het |
Efna5 |
T |
C |
17: 62,958,055 (GRCm39) |
D67G |
probably benign |
Het |
Enpp3 |
T |
C |
10: 24,649,900 (GRCm39) |
E842G |
probably damaging |
Het |
Fam210b |
A |
G |
2: 172,193,423 (GRCm39) |
K79E |
probably benign |
Het |
Gm4799 |
T |
C |
10: 82,790,589 (GRCm39) |
|
noncoding transcript |
Het |
Gpr146 |
A |
T |
5: 139,378,467 (GRCm39) |
R90W |
probably damaging |
Het |
H2ac10 |
A |
G |
13: 23,718,451 (GRCm39) |
H124R |
probably benign |
Het |
Hal |
A |
G |
10: 93,339,404 (GRCm39) |
I498V |
possibly damaging |
Het |
Hnrnpm |
C |
T |
17: 33,877,386 (GRCm39) |
G365R |
probably damaging |
Het |
Jakmip3 |
A |
G |
7: 138,627,217 (GRCm39) |
D407G |
probably damaging |
Het |
Kank1 |
A |
G |
19: 25,405,536 (GRCm39) |
I1185V |
possibly damaging |
Het |
Kcnj16 |
A |
T |
11: 110,916,036 (GRCm39) |
M233L |
probably benign |
Het |
Klhl5 |
A |
T |
5: 65,306,143 (GRCm39) |
Q370L |
probably damaging |
Het |
L3hypdh |
C |
T |
12: 72,123,917 (GRCm39) |
|
probably null |
Het |
Las1l |
A |
G |
X: 94,996,908 (GRCm39) |
V130A |
probably damaging |
Het |
Liat1 |
A |
G |
11: 75,894,051 (GRCm39) |
I143V |
probably benign |
Het |
Lrp2bp |
A |
T |
8: 46,476,081 (GRCm39) |
Y274F |
probably damaging |
Het |
Morc2b |
T |
A |
17: 33,356,917 (GRCm39) |
K285M |
probably damaging |
Het |
Mpp3 |
A |
T |
11: 101,916,216 (GRCm39) |
Y45* |
probably null |
Het |
Muc4 |
T |
A |
16: 32,598,023 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,353,914 (GRCm39) |
C837R |
possibly damaging |
Het |
Nr2f6 |
T |
A |
8: 71,828,810 (GRCm39) |
I155F |
probably damaging |
Het |
Nsg1 |
A |
G |
5: 38,302,145 (GRCm39) |
F50L |
probably benign |
Het |
Or14a258 |
T |
A |
7: 86,035,251 (GRCm39) |
M206L |
probably benign |
Het |
Ostf1 |
C |
A |
19: 18,567,822 (GRCm39) |
G101C |
probably damaging |
Het |
Pam |
C |
T |
1: 97,768,474 (GRCm39) |
R552Q |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,395,924 (GRCm39) |
N2108S |
probably damaging |
Het |
Prkdc |
A |
T |
16: 15,487,149 (GRCm39) |
H484L |
probably benign |
Het |
Pwwp3a |
A |
G |
10: 80,075,812 (GRCm39) |
D466G |
probably damaging |
Het |
Rfx5 |
G |
A |
3: 94,864,493 (GRCm39) |
R213Q |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,751,440 (GRCm39) |
S3715G |
possibly damaging |
Het |
Sall2 |
A |
G |
14: 52,552,971 (GRCm39) |
S73P |
probably damaging |
Het |
Sec22c |
G |
A |
9: 121,513,845 (GRCm39) |
A264V |
probably benign |
Het |
Sis |
A |
C |
3: 72,796,319 (GRCm39) |
|
probably benign |
Het |
Spam1 |
T |
A |
6: 24,800,802 (GRCm39) |
|
probably benign |
Het |
Spmip2 |
T |
C |
3: 79,252,839 (GRCm39) |
I18T |
possibly damaging |
Het |
St13 |
T |
A |
15: 81,250,583 (GRCm39) |
I318F |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,374,382 (GRCm39) |
I142V |
probably damaging |
Het |
Tasor2 |
C |
T |
13: 3,635,371 (GRCm39) |
E479K |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,809,903 (GRCm39) |
T1100S |
possibly damaging |
Het |
Txndc12 |
T |
A |
4: 108,691,989 (GRCm39) |
C9* |
probably null |
Het |
Ubr7 |
C |
T |
12: 102,734,535 (GRCm39) |
Q270* |
probably null |
Het |
Vps33b |
A |
G |
7: 79,934,817 (GRCm39) |
S302G |
probably benign |
Het |
Xylt1 |
T |
A |
7: 117,233,997 (GRCm39) |
V508E |
probably damaging |
Het |
Zbtb26 |
A |
T |
2: 37,326,703 (GRCm39) |
L111Q |
possibly damaging |
Het |
Zfp410 |
T |
C |
12: 84,379,702 (GRCm39) |
|
probably benign |
Het |
Zscan18 |
A |
T |
7: 12,509,223 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ttll6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |