Incidental Mutation 'IGL03293:Tcp10a'
ID |
415980 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tcp10a
|
Ensembl Gene |
ENSMUSG00000071322 |
Gene Name |
t-complex protein 10a |
Synonyms |
Tcp-10a, D17Leh66A, T66A-a, D17Leh66aa, Gm10326 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL03293
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
7592055-7613259 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 7593891 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 72
(E72G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122766
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095726]
[ENSMUST00000128533]
[ENSMUST00000129709]
[ENSMUST00000138222]
[ENSMUST00000140192]
[ENSMUST00000144861]
[ENSMUST00000147803]
|
AlphaFold |
Q80W76 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095726
AA Change: E72G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093394 Gene: ENSMUSG00000071322 AA Change: E72G
Domain | Start | End | E-Value | Type |
coiled coil region
|
57 |
94 |
N/A |
INTRINSIC |
low complexity region
|
241 |
256 |
N/A |
INTRINSIC |
Pfam:Tcp10_C
|
263 |
437 |
1.3e-83 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128533
AA Change: E72G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114351 Gene: ENSMUSG00000071322 AA Change: E72G
Domain | Start | End | E-Value | Type |
coiled coil region
|
57 |
94 |
N/A |
INTRINSIC |
low complexity region
|
241 |
256 |
N/A |
INTRINSIC |
Pfam:Tcp10_C
|
261 |
438 |
1.1e-90 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129709
AA Change: E72G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114830 Gene: ENSMUSG00000071322 AA Change: E72G
Domain | Start | End | E-Value | Type |
coiled coil region
|
57 |
94 |
N/A |
INTRINSIC |
low complexity region
|
241 |
256 |
N/A |
INTRINSIC |
Pfam:Tcp10_C
|
261 |
438 |
1.1e-90 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138222
AA Change: E54G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000115431 Gene: ENSMUSG00000071322 AA Change: E54G
Domain | Start | End | E-Value | Type |
coiled coil region
|
36 |
76 |
N/A |
INTRINSIC |
low complexity region
|
223 |
238 |
N/A |
INTRINSIC |
Pfam:Tcp10_C
|
245 |
419 |
6.7e-84 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140192
AA Change: E72G
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000117557 Gene: ENSMUSG00000071322 AA Change: E72G
Domain | Start | End | E-Value | Type |
coiled coil region
|
57 |
94 |
N/A |
INTRINSIC |
low complexity region
|
241 |
256 |
N/A |
INTRINSIC |
Pfam:Tcp10_C
|
261 |
401 |
3.5e-68 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144861
AA Change: E72G
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000122766 Gene: ENSMUSG00000071322 AA Change: E72G
Domain | Start | End | E-Value | Type |
coiled coil region
|
57 |
94 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147803
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
A |
1: 11,615,375 (GRCm39) |
|
probably null |
Het |
Akr1c14 |
C |
T |
13: 4,129,130 (GRCm39) |
R45* |
probably null |
Het |
Ccdc62 |
T |
A |
5: 124,089,288 (GRCm39) |
L309I |
possibly damaging |
Het |
Ccdc66 |
T |
A |
14: 27,212,628 (GRCm39) |
N565I |
probably damaging |
Het |
Cerkl |
G |
T |
2: 79,172,719 (GRCm39) |
A318E |
probably damaging |
Het |
Clec4n |
A |
T |
6: 123,209,105 (GRCm39) |
T57S |
probably benign |
Het |
Cluh |
A |
G |
11: 74,556,578 (GRCm39) |
E921G |
probably benign |
Het |
Cnbd1 |
C |
T |
4: 18,860,565 (GRCm39) |
E394K |
possibly damaging |
Het |
Dmgdh |
G |
T |
13: 93,843,209 (GRCm39) |
M348I |
probably benign |
Het |
Dnajc13 |
G |
A |
9: 104,051,625 (GRCm39) |
S1744L |
possibly damaging |
Het |
Dspp |
A |
T |
5: 104,325,427 (GRCm39) |
S597C |
unknown |
Het |
Dync1h1 |
A |
T |
12: 110,595,168 (GRCm39) |
N1360I |
probably benign |
Het |
Eepd1 |
A |
G |
9: 25,514,708 (GRCm39) |
H505R |
possibly damaging |
Het |
Entr1 |
A |
T |
2: 26,277,688 (GRCm39) |
|
probably benign |
Het |
Gcnt7 |
T |
C |
2: 172,296,303 (GRCm39) |
T174A |
possibly damaging |
Het |
Gnb1 |
T |
C |
4: 155,625,004 (GRCm39) |
|
probably benign |
Het |
Gpam |
A |
G |
19: 55,059,448 (GRCm39) |
S800P |
probably benign |
Het |
Gsr |
T |
C |
8: 34,185,024 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,804,878 (GRCm39) |
K2302R |
probably benign |
Het |
Hipk1 |
C |
A |
3: 103,684,575 (GRCm39) |
A347S |
possibly damaging |
Het |
Iqgap2 |
T |
C |
13: 95,867,942 (GRCm39) |
N222S |
probably damaging |
Het |
Marco |
T |
A |
1: 120,422,524 (GRCm39) |
M46L |
probably benign |
Het |
Morc2b |
A |
T |
17: 33,357,337 (GRCm39) |
V145D |
probably damaging |
Het |
Mprip |
C |
A |
11: 59,586,989 (GRCm39) |
P54Q |
probably damaging |
Het |
Ndufv2 |
A |
T |
17: 66,390,444 (GRCm39) |
C175* |
probably null |
Het |
Or13c25 |
A |
G |
4: 52,910,835 (GRCm39) |
*320Q |
probably null |
Het |
Or4p20 |
T |
C |
2: 88,253,571 (GRCm39) |
D266G |
probably damaging |
Het |
Orc3 |
A |
C |
4: 34,595,210 (GRCm39) |
I195S |
probably damaging |
Het |
Otos |
C |
A |
1: 92,572,135 (GRCm39) |
E64* |
probably null |
Het |
Plxna2 |
T |
C |
1: 194,487,253 (GRCm39) |
S1603P |
probably damaging |
Het |
Rlf |
A |
T |
4: 121,005,527 (GRCm39) |
I1151N |
probably benign |
Het |
Scaper |
A |
G |
9: 55,782,107 (GRCm39) |
V283A |
probably benign |
Het |
Slc25a43 |
A |
G |
X: 36,039,252 (GRCm39) |
T270A |
probably benign |
Het |
Slc35a5 |
A |
G |
16: 44,964,144 (GRCm39) |
V78A |
probably damaging |
Het |
Smurf1 |
A |
T |
5: 144,818,609 (GRCm39) |
D636E |
probably benign |
Het |
Tchhl1 |
A |
T |
3: 93,377,582 (GRCm39) |
E95D |
probably damaging |
Het |
Tmem232 |
A |
G |
17: 65,757,369 (GRCm39) |
S275P |
probably damaging |
Het |
Ugt1a5 |
T |
C |
1: 88,094,540 (GRCm39) |
F256S |
probably damaging |
Het |
Ulbp3 |
A |
G |
10: 3,075,699 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r5 |
A |
G |
3: 64,398,747 (GRCm39) |
V744A |
probably benign |
Het |
Vmn2r53 |
A |
T |
7: 12,332,349 (GRCm39) |
S433R |
probably benign |
Het |
Vmn2r9 |
A |
T |
5: 108,995,997 (GRCm39) |
I217N |
probably damaging |
Het |
Wdr83 |
G |
T |
8: 85,807,216 (GRCm39) |
A10E |
probably benign |
Het |
|
Other mutations in Tcp10a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01538:Tcp10a
|
APN |
17 |
7,610,899 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01868:Tcp10a
|
APN |
17 |
7,597,263 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02942:Tcp10a
|
APN |
17 |
7,597,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R0032:Tcp10a
|
UTSW |
17 |
7,604,306 (GRCm39) |
missense |
probably benign |
0.02 |
R0129:Tcp10a
|
UTSW |
17 |
7,610,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R0271:Tcp10a
|
UTSW |
17 |
7,598,555 (GRCm39) |
missense |
probably benign |
0.06 |
R0352:Tcp10a
|
UTSW |
17 |
7,593,805 (GRCm39) |
missense |
probably damaging |
0.98 |
R0549:Tcp10a
|
UTSW |
17 |
7,593,950 (GRCm39) |
missense |
probably benign |
0.11 |
R1445:Tcp10a
|
UTSW |
17 |
7,593,406 (GRCm39) |
critical splice donor site |
probably null |
|
R2147:Tcp10a
|
UTSW |
17 |
7,601,701 (GRCm39) |
missense |
probably damaging |
0.98 |
R2937:Tcp10a
|
UTSW |
17 |
7,597,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R4599:Tcp10a
|
UTSW |
17 |
7,604,323 (GRCm39) |
missense |
probably damaging |
0.99 |
R4601:Tcp10a
|
UTSW |
17 |
7,593,374 (GRCm39) |
missense |
probably benign |
0.01 |
R5982:Tcp10a
|
UTSW |
17 |
7,612,425 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7132:Tcp10a
|
UTSW |
17 |
7,612,351 (GRCm39) |
missense |
probably benign |
0.16 |
R7687:Tcp10a
|
UTSW |
17 |
7,612,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R8290:Tcp10a
|
UTSW |
17 |
7,601,716 (GRCm39) |
missense |
probably benign |
0.01 |
R9129:Tcp10a
|
UTSW |
17 |
7,593,935 (GRCm39) |
missense |
probably benign |
0.41 |
R9478:Tcp10a
|
UTSW |
17 |
7,601,740 (GRCm39) |
missense |
probably benign |
0.12 |
Z1088:Tcp10a
|
UTSW |
17 |
7,593,848 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tcp10a
|
UTSW |
17 |
7,592,117 (GRCm39) |
start gained |
probably benign |
|
|
Posted On |
2016-08-02 |