Incidental Mutation 'IGL02993:Tcp11'
| ID |
407043 |
| 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 # |
IGL02993
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
28285725-28299583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28289490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 194
(N194D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042692]
[ENSMUST00000043925]
[ENSMUST00000114836]
[ENSMUST00000129046]
[ENSMUST00000141806]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042692
AA Change: N273D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038590
Gene: ENSMUSG00000062859
AA Change: N273D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tcp11
|
126 |
550 |
6.2e-102 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043925
AA Change: N194D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046002
Gene: ENSMUSG00000062859
AA Change: N194D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tcp11
|
44 |
474 |
3.3e-129 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114836
AA Change: N194D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110485
Gene: ENSMUSG00000062859
AA Change: N194D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tcp11
|
44 |
474 |
3.3e-129 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123628
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129046
AA Change: N194D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116959
Gene: ENSMUSG00000062859
AA Change: N194D
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
C |
3: 121,567,659 (GRCm39) |
I434S |
probably benign |
Het |
| Actr2 |
C |
T |
11: 20,022,514 (GRCm39) |
R319Q |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,112,322 (GRCm39) |
Y606* |
probably null |
Het |
| Baiap3 |
C |
T |
17: 25,469,056 (GRCm39) |
|
probably null |
Het |
| Cers2 |
A |
G |
3: 95,227,396 (GRCm39) |
Y8C |
probably benign |
Het |
| Ces1g |
T |
A |
8: 94,043,707 (GRCm39) |
M411L |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,894,304 (GRCm39) |
|
probably benign |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,722 (GRCm39) |
K94N |
probably benign |
Het |
| Ddx51 |
T |
C |
5: 110,803,487 (GRCm39) |
V323A |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,346,027 (GRCm39) |
V190I |
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,576,501 (GRCm39) |
T1042A |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,011,304 (GRCm39) |
S2135T |
probably damaging |
Het |
| Gpat2 |
T |
C |
2: 127,269,486 (GRCm39) |
F46S |
probably damaging |
Het |
| Klhl38 |
T |
A |
15: 58,185,851 (GRCm39) |
K293* |
probably null |
Het |
| Map4k4 |
T |
C |
1: 40,053,348 (GRCm39) |
I916T |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,333,965 (GRCm39) |
K964M |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,253,071 (GRCm39) |
|
probably null |
Het |
| Perm1 |
A |
G |
4: 156,302,236 (GRCm39) |
Q260R |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,279,314 (GRCm39) |
N133K |
possibly damaging |
Het |
| Scart2 |
A |
G |
7: 139,876,486 (GRCm39) |
T537A |
probably benign |
Het |
| Slfn9 |
T |
C |
11: 82,872,022 (GRCm39) |
S905G |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,971,719 (GRCm39) |
Y351H |
probably damaging |
Het |
| Ssh2 |
C |
T |
11: 77,344,370 (GRCm39) |
T785I |
probably damaging |
Het |
| Stk16 |
C |
A |
1: 75,189,648 (GRCm39) |
Q69K |
probably damaging |
Het |
| Stk36 |
T |
C |
1: 74,661,446 (GRCm39) |
L491P |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Trio |
C |
A |
15: 27,830,325 (GRCm39) |
|
probably benign |
Het |
| Ugt2b1 |
A |
G |
5: 87,069,850 (GRCm39) |
V297A |
possibly damaging |
Het |
| Ugt2b5 |
T |
G |
5: 87,285,091 (GRCm39) |
H282P |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,727,492 (GRCm39) |
M1030T |
probably damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,965 (GRCm39) |
I293N |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,077,498 (GRCm39) |
T223S |
probably benign |
Het |
| Wdr20 |
G |
T |
12: 110,760,742 (GRCm39) |
E543* |
probably null |
Het |
| Zbtb25 |
T |
A |
12: 76,396,191 (GRCm39) |
N344Y |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,957,898 (GRCm39) |
F790L |
probably damaging |
Het |
|
| Other mutations in Tcp11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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