Incidental Mutation 'IGL03148:Tcp11'
| ID |
410969 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tcp11
|
| Ensembl Gene |
ENSMUSG00000062859 |
| Gene Name |
t-complex protein 11 |
| Synonyms |
Tcp-11, D17Ken1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03148
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
28285725-28299583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28289444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 209
(V209A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042692]
[ENSMUST00000043925]
[ENSMUST00000114836]
[ENSMUST00000129046]
[ENSMUST00000141806]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042692
AA Change: V288A
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038590
Gene: ENSMUSG00000062859
AA Change: V288A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tcp11
|
126 |
550 |
6.2e-102 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043925
AA Change: V209A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046002
Gene: ENSMUSG00000062859
AA Change: V209A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tcp11
|
44 |
474 |
3.3e-129 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114836
AA Change: V209A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110485
Gene: ENSMUSG00000062859
AA Change: V209A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tcp11
|
44 |
474 |
3.3e-129 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123628
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129046
AA Change: V209A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116959
Gene: ENSMUSG00000062859
AA Change: V209A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tcp11
|
44 |
237 |
2.5e-71 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134228
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141806
|
| SMART Domains |
Protein: ENSMUSP00000122010
Gene: ENSMUSG00000062859
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tcp11
|
123 |
183 |
7.1e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142461
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
G |
11: 99,728,079 (GRCm39) |
S255P |
unknown |
Het |
| Adamtsl2 |
T |
A |
2: 26,974,071 (GRCm39) |
Y125N |
probably damaging |
Het |
| Ankrd9 |
T |
C |
12: 110,943,293 (GRCm39) |
E214G |
probably benign |
Het |
| Bhmt2 |
T |
A |
13: 93,803,161 (GRCm39) |
D124V |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,317,874 (GRCm39) |
H271R |
possibly damaging |
Het |
| Clcn1 |
T |
G |
6: 42,276,925 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,755,588 (GRCm39) |
I234F |
probably benign |
Het |
| Cpa5 |
T |
A |
6: 30,630,436 (GRCm39) |
M330K |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,278,062 (GRCm39) |
C995Y |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,144 (GRCm39) |
E252G |
probably damaging |
Het |
| Dhrs1 |
A |
T |
14: 55,978,748 (GRCm39) |
Y133* |
probably null |
Het |
| Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,518,075 (GRCm39) |
I1300V |
probably benign |
Het |
| Efcab12 |
T |
C |
6: 115,787,952 (GRCm39) |
Y670C |
probably damaging |
Het |
| Frg1 |
T |
G |
8: 41,864,321 (GRCm39) |
K66N |
probably benign |
Het |
| Gbp2b |
C |
A |
3: 142,312,642 (GRCm39) |
H342N |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,295 (GRCm39) |
I556F |
possibly damaging |
Het |
| Kcnh1 |
T |
G |
1: 191,959,307 (GRCm39) |
I287S |
probably damaging |
Het |
| Map1b |
A |
G |
13: 99,578,203 (GRCm39) |
L150P |
probably damaging |
Het |
| Map3k4 |
C |
T |
17: 12,457,045 (GRCm39) |
R1299Q |
probably benign |
Het |
| Mapk10 |
T |
C |
5: 103,073,971 (GRCm39) |
N407D |
probably damaging |
Het |
| Mcemp1 |
T |
A |
8: 3,717,390 (GRCm39) |
|
probably null |
Het |
| Nav1 |
A |
C |
1: 135,397,762 (GRCm39) |
N802K |
possibly damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,831 (GRCm39) |
N601K |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,172,053 (GRCm39) |
H564L |
probably damaging |
Het |
| Pnp |
T |
A |
14: 51,188,185 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2a |
G |
T |
14: 67,259,744 (GRCm39) |
N317K |
probably benign |
Het |
| Pramel47 |
A |
G |
5: 95,489,177 (GRCm39) |
T207A |
possibly damaging |
Het |
| Rars2 |
A |
T |
4: 34,650,243 (GRCm39) |
I343F |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,355,833 (GRCm39) |
F4092S |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,187,124 (GRCm39) |
S1102G |
probably benign |
Het |
|
| Other mutations in Tcp11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02993:Tcp11
|
APN |
17 |
28,289,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0487:Tcp11
|
UTSW |
17 |
28,298,897 (GRCm39) |
splice site |
probably null |
|
|
R0603:Tcp11
|
UTSW |
17 |
28,286,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0745:Tcp11
|
UTSW |
17 |
28,286,134 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1170:Tcp11
|
UTSW |
17 |
28,290,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2965:Tcp11
|
UTSW |
17 |
28,288,239 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5249:Tcp11
|
UTSW |
17 |
28,290,757 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5358:Tcp11
|
UTSW |
17 |
28,296,994 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5819:Tcp11
|
UTSW |
17 |
28,288,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Tcp11
|
UTSW |
17 |
28,290,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6657:Tcp11
|
UTSW |
17 |
28,290,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6698:Tcp11
|
UTSW |
17 |
28,290,804 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7020:Tcp11
|
UTSW |
17 |
28,290,679 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7084:Tcp11
|
UTSW |
17 |
28,285,995 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8262:Tcp11
|
UTSW |
17 |
28,286,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8363:Tcp11
|
UTSW |
17 |
28,288,221 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8465:Tcp11
|
UTSW |
17 |
28,286,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8675:Tcp11
|
UTSW |
17 |
28,288,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8830:Tcp11
|
UTSW |
17 |
28,299,204 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8831:Tcp11
|
UTSW |
17 |
28,299,193 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8940:Tcp11
|
UTSW |
17 |
28,299,204 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9689:Tcp11
|
UTSW |
17 |
28,286,028 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2016-08-02 |
Incidental Mutation