Incidental Mutation 'IGL03296:Tcp10b'
| ID |
416082 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tcp10b
|
| Ensembl Gene |
ENSMUSG00000055602 |
| Gene Name |
t-complex protein 10b |
| Synonyms |
Tcp-10b, Tcp-10bt, D17Leh66ba, T66B-a, D17Leh66B |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL03296
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
13279987-13301124 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13292443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 289
(T289A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086787]
[ENSMUST00000116666]
[ENSMUST00000163227]
|
| AlphaFold |
E9PYJ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086787
AA Change: T289A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000083997
Gene: ENSMUSG00000055602
AA Change: T289A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
57 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
255 |
N/A |
INTRINSIC |
|
Pfam:Tcp10_C
|
261 |
438 |
2.3e-91 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116666
AA Change: T289A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112365
Gene: ENSMUSG00000055602
AA Change: T289A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
57 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
255 |
N/A |
INTRINSIC |
|
Pfam:Tcp10_C
|
263 |
437 |
1.5e-84 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163227
AA Change: T289A
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128059
Gene: ENSMUSG00000055602
AA Change: T289A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
57 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
255 |
N/A |
INTRINSIC |
|
Pfam:Tcp10_C
|
261 |
401 |
1.3e-68 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
C |
17: 43,632,044 (GRCm39) |
|
probably benign |
Het |
| Arhgef26 |
A |
G |
3: 62,330,926 (GRCm39) |
T547A |
probably damaging |
Het |
| Cdc14a |
T |
A |
3: 116,090,807 (GRCm39) |
H375L |
probably benign |
Het |
| Ddx43 |
T |
C |
9: 78,306,380 (GRCm39) |
|
probably null |
Het |
| Dennd6a |
T |
C |
14: 26,338,115 (GRCm39) |
|
probably null |
Het |
| Dock4 |
A |
T |
12: 40,783,256 (GRCm39) |
E730V |
possibly damaging |
Het |
| Gpr55 |
A |
G |
1: 85,868,753 (GRCm39) |
L276S |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 35,302,524 (GRCm39) |
F930L |
possibly damaging |
Het |
| Inf2 |
C |
T |
12: 112,570,642 (GRCm39) |
Q394* |
probably null |
Het |
| Ints11 |
T |
C |
4: 155,969,780 (GRCm39) |
|
probably null |
Het |
| Kcnd2 |
T |
C |
6: 21,714,208 (GRCm39) |
V397A |
probably damaging |
Het |
| Lmntd1 |
A |
G |
6: 145,359,203 (GRCm39) |
F316L |
probably benign |
Het |
| Loxl4 |
A |
T |
19: 42,587,262 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mindy4 |
T |
C |
6: 55,274,738 (GRCm39) |
|
probably null |
Het |
| Mybpc2 |
A |
T |
7: 44,156,308 (GRCm39) |
I835N |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
| Nfkb2 |
A |
T |
19: 46,298,367 (GRCm39) |
D557V |
probably damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,402 (GRCm39) |
I178L |
possibly damaging |
Het |
| Pdk3 |
T |
C |
X: 92,875,503 (GRCm39) |
Y19C |
probably damaging |
Het |
| Pdpr |
G |
T |
8: 111,841,430 (GRCm39) |
V221F |
probably damaging |
Het |
| Rab6a |
T |
C |
7: 100,283,931 (GRCm39) |
Y128H |
probably benign |
Het |
| Rars1 |
A |
T |
11: 35,707,523 (GRCm39) |
Y429* |
probably null |
Het |
| Rsl24d1 |
T |
C |
9: 73,025,229 (GRCm39) |
|
probably null |
Het |
| Slc7a9 |
T |
C |
7: 35,151,852 (GRCm39) |
F49S |
probably damaging |
Het |
| St14 |
C |
T |
9: 31,020,008 (GRCm39) |
E34K |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,942,852 (GRCm39) |
|
probably null |
Het |
| Tshz3 |
A |
T |
7: 36,470,761 (GRCm39) |
T917S |
probably damaging |
Het |
| Vrtn |
T |
A |
12: 84,695,622 (GRCm39) |
I124N |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,420,540 (GRCm39) |
E1747G |
probably damaging |
Het |
| Wdr33 |
A |
T |
18: 31,960,444 (GRCm39) |
Q36L |
probably benign |
Het |
| Xpo5 |
C |
T |
17: 46,532,320 (GRCm39) |
R452* |
probably null |
Het |
| Zdhhc8 |
A |
T |
16: 18,044,587 (GRCm39) |
L311Q |
possibly damaging |
Het |
|
| Other mutations in Tcp10b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Tcp10b
|
APN |
17 |
13,299,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
maimonides
|
UTSW |
17 |
13,292,466 (GRCm39) |
missense |
probably damaging |
0.97 |
|
BB004:Tcp10b
|
UTSW |
17 |
13,288,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB014:Tcp10b
|
UTSW |
17 |
13,288,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
H8441:Tcp10b
|
UTSW |
17 |
13,289,748 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1817:Tcp10b
|
UTSW |
17 |
13,286,590 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1901:Tcp10b
|
UTSW |
17 |
13,300,513 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4657:Tcp10b
|
UTSW |
17 |
13,292,504 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4749:Tcp10b
|
UTSW |
17 |
13,289,832 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5335:Tcp10b
|
UTSW |
17 |
13,281,954 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6401:Tcp10b
|
UTSW |
17 |
13,292,466 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7161:Tcp10b
|
UTSW |
17 |
13,300,633 (GRCm39) |
makesense |
probably null |
|
|
R7927:Tcp10b
|
UTSW |
17 |
13,288,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8549:Tcp10b
|
UTSW |
17 |
13,281,915 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9055:Tcp10b
|
UTSW |
17 |
13,281,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9099:Tcp10b
|
UTSW |
17 |
13,280,656 (GRCm39) |
unclassified |
probably benign |
|
|
R9105:Tcp10b
|
UTSW |
17 |
13,285,236 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9801:Tcp10b
|
UTSW |
17 |
13,281,867 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
X0062:Tcp10b
|
UTSW |
17 |
13,281,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation