Incidental Mutation 'IGL02569:Ttll8'
| ID |
298961 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttll8
|
| Ensembl Gene |
ENSMUSG00000022388 |
| Gene Name |
tubulin tyrosine ligase-like family, member 8 |
| Synonyms |
1700019P01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
IGL02569
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
88774836-88838621 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 88818129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 182
(W182*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109371]
[ENSMUST00000177180]
|
| AlphaFold |
A4Q9F1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000109371
AA Change: W182*
|
| SMART Domains |
Protein: ENSMUSP00000104996
Gene: ENSMUSG00000022388
AA Change: W182*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
285 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
324 |
621 |
3.9e-74 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000177180
|
| SMART Domains |
Protein: ENSMUSP00000135381
Gene: ENSMUSG00000022388
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000177254
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,034,061 (GRCm39) |
D2223G |
probably damaging |
Het |
| Brd1 |
A |
G |
15: 88,598,132 (GRCm39) |
L538P |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,391,245 (GRCm39) |
V424A |
probably damaging |
Het |
| Capg |
A |
C |
6: 72,538,032 (GRCm39) |
E306A |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,373,428 (GRCm39) |
Y115C |
probably benign |
Het |
| Crat |
G |
A |
2: 30,294,542 (GRCm39) |
R509W |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,477,985 (GRCm39) |
N1594S |
possibly damaging |
Het |
| Fabp2 |
T |
C |
3: 122,689,113 (GRCm39) |
F18L |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,985 (GRCm39) |
K263R |
probably benign |
Het |
| Fam227a |
C |
T |
15: 79,518,323 (GRCm39) |
C323Y |
probably benign |
Het |
| Fas |
A |
G |
19: 34,297,962 (GRCm39) |
E210G |
possibly damaging |
Het |
| Fgfbp1 |
A |
G |
5: 44,136,569 (GRCm39) |
F241S |
probably damaging |
Het |
| Gramd1a |
A |
T |
7: 30,829,932 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,573,244 (GRCm39) |
M2135K |
probably benign |
Het |
| Ikbkb |
G |
T |
8: 23,183,899 (GRCm39) |
Q84K |
probably damaging |
Het |
| Kcnk9 |
T |
C |
15: 72,384,426 (GRCm39) |
T251A |
probably benign |
Het |
| Mphosph9 |
C |
A |
5: 124,435,634 (GRCm39) |
E600* |
probably null |
Het |
| Or2ag1 |
T |
A |
7: 106,313,793 (GRCm39) |
I32L |
probably benign |
Het |
| Or2ag1b |
T |
A |
7: 106,288,849 (GRCm39) |
T30S |
probably benign |
Het |
| Pde1a |
C |
A |
2: 79,698,602 (GRCm39) |
K341N |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,156,223 (GRCm39) |
N2792S |
probably damaging |
Het |
| Scart2 |
A |
C |
7: 139,878,275 (GRCm39) |
I885L |
probably benign |
Het |
| Slc17a3 |
A |
G |
13: 24,030,285 (GRCm39) |
Y132C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| St6galnac1 |
T |
C |
11: 116,658,528 (GRCm39) |
D312G |
probably damaging |
Het |
| Tardbp |
A |
G |
4: 148,703,639 (GRCm39) |
|
probably null |
Het |
| Tex9 |
C |
T |
9: 72,385,645 (GRCm39) |
V8I |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,301,382 (GRCm39) |
|
probably benign |
Het |
| Vmn2r61 |
G |
A |
7: 41,926,070 (GRCm39) |
G525E |
probably damaging |
Het |
| Zfp111 |
T |
C |
7: 23,906,494 (GRCm39) |
T2A |
possibly damaging |
Het |
|
| Other mutations in Ttll8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Ttll8
|
APN |
15 |
88,798,356 (GRCm39) |
missense |
probably benign |
|
|
IGL00895:Ttll8
|
APN |
15 |
88,817,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01061:Ttll8
|
APN |
15 |
88,801,453 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01661:Ttll8
|
APN |
15 |
88,820,202 (GRCm39) |
splice site |
probably benign |
|
|
IGL01992:Ttll8
|
APN |
15 |
88,799,848 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02212:Ttll8
|
APN |
15 |
88,801,450 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02234:Ttll8
|
APN |
15 |
88,798,252 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02935:Ttll8
|
APN |
15 |
88,798,759 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03064:Ttll8
|
APN |
15 |
88,803,797 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0969:Ttll8
|
UTSW |
15 |
88,818,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1637:Ttll8
|
UTSW |
15 |
88,798,647 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1939:Ttll8
|
UTSW |
15 |
88,799,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Ttll8
|
UTSW |
15 |
88,798,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2173:Ttll8
|
UTSW |
15 |
88,798,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Ttll8
|
UTSW |
15 |
88,818,156 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2414:Ttll8
|
UTSW |
15 |
88,820,336 (GRCm39) |
splice site |
probably benign |
|
|
R2905:Ttll8
|
UTSW |
15 |
88,798,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4159:Ttll8
|
UTSW |
15 |
88,801,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4368:Ttll8
|
UTSW |
15 |
88,798,384 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4395:Ttll8
|
UTSW |
15 |
88,799,783 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4707:Ttll8
|
UTSW |
15 |
88,801,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4926:Ttll8
|
UTSW |
15 |
88,798,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4983:Ttll8
|
UTSW |
15 |
88,809,785 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5698:Ttll8
|
UTSW |
15 |
88,823,209 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5752:Ttll8
|
UTSW |
15 |
88,816,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5834:Ttll8
|
UTSW |
15 |
88,801,449 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5889:Ttll8
|
UTSW |
15 |
88,818,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Ttll8
|
UTSW |
15 |
88,798,441 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6931:Ttll8
|
UTSW |
15 |
88,798,507 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7133:Ttll8
|
UTSW |
15 |
88,799,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7268:Ttll8
|
UTSW |
15 |
88,819,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7286:Ttll8
|
UTSW |
15 |
88,801,442 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7502:Ttll8
|
UTSW |
15 |
88,817,639 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7580:Ttll8
|
UTSW |
15 |
88,818,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7734:Ttll8
|
UTSW |
15 |
88,798,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7978:Ttll8
|
UTSW |
15 |
88,799,565 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8074:Ttll8
|
UTSW |
15 |
88,799,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Ttll8
|
UTSW |
15 |
88,798,638 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8407:Ttll8
|
UTSW |
15 |
88,798,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8901:Ttll8
|
UTSW |
15 |
88,818,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9199:Ttll8
|
UTSW |
15 |
88,798,818 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9443:Ttll8
|
UTSW |
15 |
88,809,863 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0058:Ttll8
|
UTSW |
15 |
88,801,333 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation