Incidental Mutation 'R0745:Tcp11'
ID |
70937 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcp11
|
Ensembl Gene |
ENSMUSG00000062859 |
Gene Name |
t-complex protein 11 |
Synonyms |
Tcp-11, D17Ken1 |
MMRRC Submission |
038926-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0745 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
28285725-28299583 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28286134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 494
(I494V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038590
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025058]
[ENSMUST00000042692]
[ENSMUST00000043925]
[ENSMUST00000088027]
[ENSMUST00000114836]
[ENSMUST00000114842]
[ENSMUST00000129046]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025058
|
SMART Domains |
Protein: ENSMUSP00000025058 Gene: ENSMUSG00000024219
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
ANK
|
75 |
104 |
1.08e-5 |
SMART |
ANK
|
108 |
137 |
7.42e-4 |
SMART |
ANK
|
165 |
194 |
1.88e-5 |
SMART |
ANK
|
198 |
227 |
1.93e-2 |
SMART |
ANK
|
231 |
260 |
1.64e-5 |
SMART |
ANK
|
263 |
292 |
7.71e-2 |
SMART |
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
low complexity region
|
633 |
647 |
N/A |
INTRINSIC |
SAM
|
709 |
778 |
3.2e-16 |
SMART |
SAM
|
783 |
851 |
4.33e-13 |
SMART |
Blast:PTB
|
861 |
919 |
2e-22 |
BLAST |
PTB
|
953 |
1087 |
3.17e-43 |
SMART |
low complexity region
|
1126 |
1135 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042692
AA Change: I494V
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000038590 Gene: ENSMUSG00000062859 AA Change: I494V
Domain | Start | End | E-Value | Type |
Pfam:Tcp11
|
126 |
550 |
6.2e-102 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043925
AA Change: I415V
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000046002 Gene: ENSMUSG00000062859 AA Change: I415V
Domain | Start | End | E-Value | Type |
Pfam:Tcp11
|
44 |
474 |
3.3e-129 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088027
|
SMART Domains |
Protein: ENSMUSP00000085344 Gene: ENSMUSG00000024219
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
ANK
|
75 |
104 |
1.08e-5 |
SMART |
ANK
|
108 |
137 |
7.42e-4 |
SMART |
ANK
|
144 |
173 |
1.88e-5 |
SMART |
ANK
|
177 |
206 |
1.93e-2 |
SMART |
ANK
|
210 |
239 |
1.64e-5 |
SMART |
ANK
|
242 |
271 |
7.71e-2 |
SMART |
low complexity region
|
398 |
418 |
N/A |
INTRINSIC |
low complexity region
|
612 |
626 |
N/A |
INTRINSIC |
SAM
|
688 |
757 |
3.2e-16 |
SMART |
SAM
|
762 |
830 |
4.33e-13 |
SMART |
Blast:PTB
|
840 |
898 |
2e-22 |
BLAST |
PTB
|
932 |
1066 |
3.17e-43 |
SMART |
low complexity region
|
1105 |
1114 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114836
AA Change: I415V
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110485 Gene: ENSMUSG00000062859 AA Change: I415V
Domain | Start | End | E-Value | Type |
Pfam:Tcp11
|
44 |
474 |
3.3e-129 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114842
|
SMART Domains |
Protein: ENSMUSP00000110491 Gene: ENSMUSG00000024219
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
ANK
|
75 |
104 |
1.08e-5 |
SMART |
ANK
|
108 |
137 |
7.42e-4 |
SMART |
ANK
|
165 |
194 |
1.88e-5 |
SMART |
ANK
|
198 |
227 |
1.93e-2 |
SMART |
ANK
|
231 |
260 |
1.64e-5 |
SMART |
ANK
|
263 |
292 |
7.71e-2 |
SMART |
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
low complexity region
|
633 |
647 |
N/A |
INTRINSIC |
SAM
|
709 |
778 |
3.2e-16 |
SMART |
SAM
|
783 |
851 |
4.33e-13 |
SMART |
Blast:PTB
|
861 |
919 |
2e-22 |
BLAST |
PTB
|
953 |
1087 |
3.17e-43 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123628
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139173
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129046
|
SMART Domains |
Protein: ENSMUSP00000116959 Gene: ENSMUSG00000062859
Domain | Start | End | E-Value | Type |
Pfam:Tcp11
|
44 |
237 |
2.5e-71 |
PFAM |
|
Meta Mutation Damage Score |
0.1238 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
A |
T |
2: 150,675,068 (GRCm39) |
|
probably null |
Het |
Adam17 |
A |
G |
12: 21,382,222 (GRCm39) |
|
probably benign |
Het |
Aldh1l2 |
T |
A |
10: 83,354,494 (GRCm39) |
|
probably null |
Het |
Bltp1 |
A |
G |
3: 36,982,612 (GRCm39) |
Y759C |
probably damaging |
Het |
Brca2 |
A |
T |
5: 150,468,347 (GRCm39) |
|
probably benign |
Het |
Capn13 |
A |
C |
17: 73,658,503 (GRCm39) |
D188E |
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,201,813 (GRCm39) |
T34S |
unknown |
Het |
Col5a2 |
A |
G |
1: 45,446,387 (GRCm39) |
|
probably null |
Het |
Cyp4v3 |
A |
G |
8: 45,761,688 (GRCm39) |
|
probably benign |
Het |
Dlat |
G |
A |
9: 50,565,008 (GRCm39) |
T233M |
probably damaging |
Het |
Eef2 |
C |
T |
10: 81,017,830 (GRCm39) |
P831S |
probably benign |
Het |
Endod1 |
A |
T |
9: 14,268,413 (GRCm39) |
N357K |
possibly damaging |
Het |
Evc |
A |
T |
5: 37,476,403 (GRCm39) |
V205E |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,228,469 (GRCm39) |
L1754P |
probably damaging |
Het |
Gabra6 |
A |
T |
11: 42,207,394 (GRCm39) |
M230K |
probably damaging |
Het |
Hsd3b5 |
A |
G |
3: 98,526,855 (GRCm39) |
V197A |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,564,696 (GRCm39) |
|
probably null |
Het |
Mthfsd |
A |
T |
8: 121,829,688 (GRCm39) |
L116Q |
probably damaging |
Het |
Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
Obscn |
A |
G |
11: 58,973,065 (GRCm39) |
V2312A |
probably benign |
Het |
Or1i2 |
T |
C |
10: 78,447,956 (GRCm39) |
E173G |
probably benign |
Het |
Palld |
G |
A |
8: 62,330,737 (GRCm39) |
R47C |
probably damaging |
Het |
Pds5b |
A |
G |
5: 150,729,136 (GRCm39) |
T1424A |
probably benign |
Het |
Ppp6r2 |
G |
A |
15: 89,149,445 (GRCm39) |
|
probably null |
Het |
Sik3 |
A |
G |
9: 46,109,537 (GRCm39) |
N505S |
probably benign |
Het |
Spin1 |
A |
G |
13: 51,293,551 (GRCm39) |
Y87C |
probably damaging |
Het |
Tgfa |
G |
A |
6: 86,248,417 (GRCm39) |
E140K |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trmo |
A |
G |
4: 46,382,104 (GRCm39) |
F338L |
probably damaging |
Het |
Tspan17 |
T |
C |
13: 54,937,487 (GRCm39) |
V27A |
possibly damaging |
Het |
Tut4 |
C |
G |
4: 108,360,152 (GRCm39) |
|
probably benign |
Het |
Uba5 |
A |
G |
9: 103,926,710 (GRCm39) |
|
probably benign |
Het |
Unc5a |
CTGTGTGTGTGTGTGT |
CTGTGTGTGTGTGT |
13: 55,153,068 (GRCm39) |
|
probably null |
Het |
Zbbx |
C |
T |
3: 75,062,734 (GRCm39) |
V8I |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,809,929 (GRCm39) |
L931* |
probably null |
Het |
Zmym4 |
A |
T |
4: 126,796,496 (GRCm39) |
|
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 |
IGL03148:Tcp11
|
APN |
17 |
28,289,444 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAAACACCTGCTGGTTGTGATGG -3'
(R):5'- TGAGTCTCTGTGACATCCACACCC -3'
Sequencing Primer
(F):5'- TGGGTCAGGCTGACAAACTTC -3'
(R):5'- tttcccccctgcctctg -3'
|
Posted On |
2013-09-30 |