Incidental Mutation 'R6698:Tcp11'
ID |
528669 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcp11
|
Ensembl Gene |
ENSMUSG00000062859 |
Gene Name |
t-complex protein 11 |
Synonyms |
Tcp-11, D17Ken1 |
MMRRC Submission |
044816-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6698 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
28285725-28299583 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 28290804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 106
(I106N)
|
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: I185N
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000038590 Gene: ENSMUSG00000062859 AA Change: I185N
Domain | Start | End | E-Value | Type |
Pfam:Tcp11
|
126 |
550 |
6.2e-102 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000043925
AA Change: I106N
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000046002 Gene: ENSMUSG00000062859 AA Change: I106N
Domain | Start | End | E-Value | Type |
Pfam:Tcp11
|
44 |
474 |
3.3e-129 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114836
AA Change: I106N
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000110485 Gene: ENSMUSG00000062859 AA Change: I106N
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: I106N
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116959 Gene: ENSMUSG00000062859 AA Change: I106N
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
95% (40/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Brca2 |
T |
C |
5: 150,455,859 (GRCm39) |
V200A |
probably damaging |
Het |
Camk2g |
T |
A |
14: 20,792,776 (GRCm39) |
K393* |
probably null |
Het |
Catsperb |
T |
A |
12: 101,475,466 (GRCm39) |
F337I |
probably damaging |
Het |
Cdk17 |
T |
C |
10: 93,064,540 (GRCm39) |
Y270H |
probably damaging |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,811,374 (GRCm39) |
N715I |
unknown |
Het |
Fancg |
A |
G |
4: 43,007,034 (GRCm39) |
S248P |
probably benign |
Het |
Flvcr1 |
T |
C |
1: 190,757,929 (GRCm39) |
Y79C |
probably damaging |
Het |
Gabrp |
A |
G |
11: 33,507,017 (GRCm39) |
S198P |
probably damaging |
Het |
Gask1b |
A |
G |
3: 79,843,902 (GRCm39) |
I10V |
probably damaging |
Het |
Glp1r |
A |
G |
17: 31,155,375 (GRCm39) |
Y454C |
probably damaging |
Het |
Gpr158 |
A |
C |
2: 21,831,921 (GRCm39) |
D1007A |
probably damaging |
Het |
Gsdmc3 |
A |
G |
15: 63,732,120 (GRCm39) |
F302S |
possibly damaging |
Het |
Gsdmc4 |
T |
A |
15: 63,765,613 (GRCm39) |
D312V |
probably benign |
Het |
Itga5 |
T |
C |
15: 103,259,808 (GRCm39) |
Y663C |
probably benign |
Het |
Kif1b |
A |
T |
4: 149,359,413 (GRCm39) |
M108K |
probably damaging |
Het |
Klf11 |
T |
G |
12: 24,703,618 (GRCm39) |
S18A |
probably damaging |
Het |
Lmtk2 |
T |
C |
5: 144,111,737 (GRCm39) |
V819A |
probably benign |
Het |
Lrba |
A |
G |
3: 86,211,732 (GRCm39) |
M451V |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,192,958 (GRCm39) |
D488G |
probably damaging |
Het |
Mark4 |
T |
C |
7: 19,163,362 (GRCm39) |
N589S |
probably benign |
Het |
Mis12 |
T |
C |
11: 70,916,012 (GRCm39) |
F15S |
probably damaging |
Het |
Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
Nlrx1 |
A |
G |
9: 44,177,104 (GRCm39) |
W3R |
probably damaging |
Het |
Nup210l |
G |
A |
3: 90,089,815 (GRCm39) |
S1194N |
possibly damaging |
Het |
Or13m2-ps1 |
A |
T |
6: 42,778,136 (GRCm39) |
T154S |
probably benign |
Het |
Or5d20-ps1 |
A |
G |
2: 87,931,561 (GRCm39) |
F257L |
unknown |
Het |
Pnkd |
T |
A |
1: 74,389,836 (GRCm39) |
L320Q |
probably damaging |
Het |
Prkn |
A |
G |
17: 11,286,183 (GRCm39) |
|
probably null |
Het |
Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Homo |
Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
Rpn2 |
T |
C |
2: 157,139,330 (GRCm39) |
I208T |
possibly damaging |
Het |
Skint4 |
G |
T |
4: 111,977,096 (GRCm39) |
C170F |
probably damaging |
Het |
Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
Tg |
A |
G |
15: 66,711,211 (GRCm39) |
Y991C |
probably damaging |
Het |
Trib3 |
A |
G |
2: 152,180,339 (GRCm39) |
S285P |
probably damaging |
Het |
Wdr49 |
A |
T |
3: 75,336,673 (GRCm39) |
W345R |
probably benign |
Het |
Wnt5a |
A |
G |
14: 28,240,420 (GRCm39) |
Y190C |
possibly damaging |
Het |
Xpo1 |
A |
G |
11: 23,244,040 (GRCm39) |
E955G |
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 |
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 |
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'- TCGTCTCGGATTGGCGCA -3'
(R):5'- GAACCCATTGCTGCTCATCT -3'
Sequencing Primer
(F):5'- TCGGATTGGCGCACACAAC -3'
(R):5'- GCTACACAGAGAAAGCCTGTCTTG -3'
|
Posted On |
2018-07-24 |