Incidental Mutation 'IGL02109:Ttll10'
| ID |
281145 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttll10
|
| Ensembl Gene |
ENSMUSG00000029074 |
| Gene Name |
tubulin tyrosine ligase-like family, member 10 |
| Synonyms |
4833412E22Rik, 4930595O22Rik, Ttll5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02109
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
156119292-156135274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 156131937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 22
(D22N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051509]
[ENSMUST00000184348]
[ENSMUST00000184684]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000030951
|
| SMART Domains |
Protein: ENSMUSP00000030951
Gene: ENSMUSG00000029074
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051509
AA Change: D111N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055671
Gene: ENSMUSG00000029074
AA Change: D111N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
118 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
189 |
507 |
1.8e-48 |
PFAM |
|
low complexity region
|
541 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
671 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097731
|
| SMART Domains |
Protein: ENSMUSP00000095337
Gene: ENSMUSG00000029074
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
282 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153649
|
| SMART Domains |
Protein: ENSMUSP00000116933
Gene: ENSMUSG00000029074
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183563
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184348
AA Change: D140N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139316
Gene: ENSMUSG00000029074
AA Change: D140N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
218 |
536 |
7.9e-48 |
PFAM |
|
low complexity region
|
570 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184684
AA Change: D22N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139077
Gene: ENSMUSG00000029074
AA Change: D22N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
100 |
418 |
2.5e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184750
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
T |
A |
8: 23,586,200 (GRCm39) |
N427K |
probably damaging |
Het |
| Ano10 |
C |
T |
9: 122,090,408 (GRCm39) |
E302K |
probably damaging |
Het |
| Arl3 |
T |
A |
19: 46,530,785 (GRCm39) |
|
probably benign |
Het |
| Clec14a |
T |
A |
12: 58,314,934 (GRCm39) |
E229D |
probably benign |
Het |
| Ctbp1 |
T |
C |
5: 33,424,312 (GRCm39) |
D26G |
probably damaging |
Het |
| Flt3 |
G |
T |
5: 147,287,491 (GRCm39) |
H671N |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,848,382 (GRCm39) |
D1799G |
probably benign |
Het |
| Il20ra |
G |
A |
10: 19,635,253 (GRCm39) |
G498D |
possibly damaging |
Het |
| Kcnu1 |
T |
G |
8: 26,427,727 (GRCm39) |
L348R |
possibly damaging |
Het |
| Lrpprc |
A |
T |
17: 85,033,998 (GRCm39) |
L999* |
probably null |
Het |
| Myt1 |
T |
G |
2: 181,457,410 (GRCm39) |
|
probably benign |
Het |
| N4bp2 |
C |
T |
5: 65,955,477 (GRCm39) |
T467M |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,832,693 (GRCm39) |
T355A |
probably benign |
Het |
| Ocstamp |
A |
T |
2: 165,239,256 (GRCm39) |
V310E |
possibly damaging |
Het |
| Or4k39 |
T |
G |
2: 111,238,838 (GRCm39) |
|
noncoding transcript |
Het |
| Or8b3 |
T |
C |
9: 38,314,382 (GRCm39) |
F71L |
possibly damaging |
Het |
| Plcb1 |
C |
A |
2: 134,628,479 (GRCm39) |
H9Q |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,192,576 (GRCm39) |
Q795L |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,246,568 (GRCm39) |
S324P |
probably damaging |
Het |
| Pnldc1 |
G |
T |
17: 13,124,425 (GRCm39) |
H143Q |
probably benign |
Het |
| Ppp1r12b |
A |
G |
1: 134,800,543 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,779,502 (GRCm39) |
F250L |
probably benign |
Het |
| Scgn |
T |
C |
13: 24,137,948 (GRCm39) |
D241G |
possibly damaging |
Het |
| St8sia4 |
T |
C |
1: 95,588,617 (GRCm39) |
I73V |
possibly damaging |
Het |
| Tle3 |
T |
A |
9: 61,320,332 (GRCm39) |
C595S |
probably damaging |
Het |
| Tmem209 |
T |
C |
6: 30,497,944 (GRCm39) |
Y117C |
probably damaging |
Het |
| Tshr |
T |
A |
12: 91,504,766 (GRCm39) |
I568N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,640,202 (GRCm39) |
V13802E |
probably damaging |
Het |
|
| Other mutations in Ttll10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01629:Ttll10
|
APN |
4 |
156,131,351 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02121:Ttll10
|
APN |
4 |
156,132,890 (GRCm39) |
missense |
probably benign |
0.04 |
|
F6893:Ttll10
|
UTSW |
4 |
156,132,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0366:Ttll10
|
UTSW |
4 |
156,119,612 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0502:Ttll10
|
UTSW |
4 |
156,132,005 (GRCm39) |
splice site |
probably benign |
|
|
R0503:Ttll10
|
UTSW |
4 |
156,132,005 (GRCm39) |
splice site |
probably benign |
|
|
R0523:Ttll10
|
UTSW |
4 |
156,129,818 (GRCm39) |
nonsense |
probably null |
|
|
R0865:Ttll10
|
UTSW |
4 |
156,128,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0907:Ttll10
|
UTSW |
4 |
156,120,621 (GRCm39) |
nonsense |
probably null |
|
|
R1125:Ttll10
|
UTSW |
4 |
156,119,495 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1555:Ttll10
|
UTSW |
4 |
156,119,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1797:Ttll10
|
UTSW |
4 |
156,132,024 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3899:Ttll10
|
UTSW |
4 |
156,120,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Ttll10
|
UTSW |
4 |
156,133,018 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5715:Ttll10
|
UTSW |
4 |
156,129,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5762:Ttll10
|
UTSW |
4 |
156,119,438 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5814:Ttll10
|
UTSW |
4 |
156,132,084 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5958:Ttll10
|
UTSW |
4 |
156,120,523 (GRCm39) |
splice site |
probably null |
|
|
R5994:Ttll10
|
UTSW |
4 |
156,133,189 (GRCm39) |
splice site |
probably null |
|
|
R6084:Ttll10
|
UTSW |
4 |
156,129,814 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7027:Ttll10
|
UTSW |
4 |
156,120,258 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7719:Ttll10
|
UTSW |
4 |
156,131,665 (GRCm39) |
splice site |
probably null |
|
|
R8010:Ttll10
|
UTSW |
4 |
156,131,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8118:Ttll10
|
UTSW |
4 |
156,129,219 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8167:Ttll10
|
UTSW |
4 |
156,129,213 (GRCm39) |
missense |
probably null |
0.01 |
|
R8213:Ttll10
|
UTSW |
4 |
156,120,691 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8835:Ttll10
|
UTSW |
4 |
156,133,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9487:Ttll10
|
UTSW |
4 |
156,127,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9639:Ttll10
|
UTSW |
4 |
156,119,503 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1176:Ttll10
|
UTSW |
4 |
156,132,974 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ttll10
|
UTSW |
4 |
156,131,895 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
| Posted On |
2015-04-16 |
Incidental Mutation