Incidental Mutation 'IGL01132:Tcte1'
| ID |
53104 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tcte1
|
| Ensembl Gene |
ENSMUSG00000023949 |
| Gene Name |
t-complex-associated testis expressed 1 |
| Synonyms |
D17Sil1, Tcte-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01132
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
45834360-45853605 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 45850788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 355
(A355S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113547]
[ENSMUST00000180252]
|
| AlphaFold |
A6H639 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113547
AA Change: A355S
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109175
Gene: ENSMUSG00000023949
AA Change: A355S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
222 |
N/A |
INTRINSIC |
|
Blast:LRR
|
235 |
274 |
7e-14 |
BLAST |
|
LRR
|
304 |
331 |
5.02e-6 |
SMART |
|
LRR
|
332 |
358 |
1.28e-3 |
SMART |
|
LRR
|
359 |
386 |
5.81e-2 |
SMART |
|
LRR
|
387 |
414 |
2.05e-2 |
SMART |
|
LRR
|
415 |
442 |
1.13e-4 |
SMART |
|
Blast:LRR
|
443 |
470 |
3e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180252
|
| SMART Domains |
Protein: ENSMUSP00000136337
Gene: ENSMUSG00000096847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
Pfam:TMEM151
|
40 |
486 |
2e-213 |
PFAM |
|
low complexity region
|
511 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,495,732 (GRCm39) |
N619S |
probably benign |
Het |
| Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,704,404 (GRCm39) |
H30R |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,910,055 (GRCm39) |
S1483P |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,901,274 (GRCm39) |
T127A |
probably benign |
Het |
| Clmn |
T |
A |
12: 104,740,810 (GRCm39) |
|
probably null |
Het |
| Dcc |
A |
T |
18: 71,815,245 (GRCm39) |
Y376* |
probably null |
Het |
| Dennd2b |
A |
G |
7: 109,169,212 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
C |
T |
9: 45,663,626 (GRCm39) |
R1950* |
probably null |
Het |
| Eml2 |
A |
T |
7: 18,934,464 (GRCm39) |
S388C |
probably damaging |
Het |
| Ext2 |
C |
T |
2: 93,621,418 (GRCm39) |
M370I |
probably benign |
Het |
| Foxo1 |
C |
T |
3: 52,252,580 (GRCm39) |
R248W |
probably damaging |
Het |
| Gan |
T |
A |
8: 117,923,183 (GRCm39) |
|
probably benign |
Het |
| Klra1 |
A |
T |
6: 130,341,237 (GRCm39) |
C245* |
probably null |
Het |
| Myh10 |
A |
T |
11: 68,659,094 (GRCm39) |
M491L |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,200,569 (GRCm39) |
Y343H |
probably damaging |
Het |
| Oplah |
C |
T |
15: 76,185,157 (GRCm39) |
S852N |
probably benign |
Het |
| Or6c75 |
T |
C |
10: 129,337,515 (GRCm39) |
V254A |
probably damaging |
Het |
| Or7e168 |
G |
A |
9: 19,719,950 (GRCm39) |
S112N |
probably damaging |
Het |
| Or8k37 |
A |
T |
2: 86,469,510 (GRCm39) |
C181S |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,613,511 (GRCm39) |
V1021A |
probably damaging |
Het |
| Rassf4 |
C |
T |
6: 116,636,568 (GRCm39) |
|
probably benign |
Het |
| Sf3b3 |
T |
C |
8: 111,569,413 (GRCm39) |
I102V |
probably benign |
Het |
| Slc27a4 |
T |
C |
2: 29,694,314 (GRCm39) |
I46T |
probably benign |
Het |
| Slc5a12 |
T |
C |
2: 110,428,167 (GRCm39) |
V74A |
probably damaging |
Het |
| Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
|
| Other mutations in Tcte1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Tcte1
|
APN |
17 |
45,845,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00945:Tcte1
|
APN |
17 |
45,852,115 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01120:Tcte1
|
APN |
17 |
45,850,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01884:Tcte1
|
APN |
17 |
45,850,735 (GRCm39) |
splice site |
probably null |
|
|
IGL02418:Tcte1
|
APN |
17 |
45,852,128 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02731:Tcte1
|
APN |
17 |
45,850,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03130:Tcte1
|
APN |
17 |
45,844,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Tcte1
|
UTSW |
17 |
45,846,211 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1519:Tcte1
|
UTSW |
17 |
45,846,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Tcte1
|
UTSW |
17 |
45,852,237 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2014:Tcte1
|
UTSW |
17 |
45,852,237 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3744:Tcte1
|
UTSW |
17 |
45,850,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4250:Tcte1
|
UTSW |
17 |
45,850,617 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4976:Tcte1
|
UTSW |
17 |
45,845,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5398:Tcte1
|
UTSW |
17 |
45,850,752 (GRCm39) |
nonsense |
probably null |
|
|
R6169:Tcte1
|
UTSW |
17 |
45,845,996 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6251:Tcte1
|
UTSW |
17 |
45,846,085 (GRCm39) |
missense |
probably benign |
|
|
R6279:Tcte1
|
UTSW |
17 |
45,844,215 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6300:Tcte1
|
UTSW |
17 |
45,844,215 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6316:Tcte1
|
UTSW |
17 |
45,845,786 (GRCm39) |
missense |
probably benign |
|
|
R6417:Tcte1
|
UTSW |
17 |
45,846,056 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6892:Tcte1
|
UTSW |
17 |
45,844,083 (GRCm39) |
missense |
probably benign |
|
|
R7047:Tcte1
|
UTSW |
17 |
45,844,294 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7645:Tcte1
|
UTSW |
17 |
45,845,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8125:Tcte1
|
UTSW |
17 |
45,850,618 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9710:Tcte1
|
UTSW |
17 |
45,850,798 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Tcte1
|
UTSW |
17 |
45,845,997 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Tcte1
|
UTSW |
17 |
45,845,938 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2013-06-21 |
Incidental Mutation