Incidental Mutation 'IGL00987:Thop1'
| ID |
28441 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Thop1
|
| Ensembl Gene |
ENSMUSG00000004929 |
| Gene Name |
thimet oligopeptidase 1 |
| Synonyms |
EP24.15 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.628)
|
| Stock # |
IGL00987
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80905917-80918194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80917529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 623
(F623L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005057]
[ENSMUST00000117422]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005057
AA Change: F623L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000005057
Gene: ENSMUSG00000004929
AA Change: F623L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M3
|
227 |
677 |
7e-165 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117422
|
| SMART Domains |
Protein: ENSMUSP00000112836
Gene: ENSMUSG00000035041
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
179 |
199 |
N/A |
INTRINSIC |
|
BRLZ
|
237 |
301 |
4.36e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171484
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot9 |
T |
C |
X: 154,078,177 (GRCm39) |
I241T |
probably benign |
Het |
| Atp5mc3 |
T |
A |
2: 73,740,270 (GRCm39) |
R19* |
probably null |
Het |
| Celf4 |
T |
C |
18: 25,620,007 (GRCm39) |
D420G |
probably damaging |
Het |
| Cideb |
C |
A |
14: 55,992,017 (GRCm39) |
R179L |
possibly damaging |
Het |
| Cmtr1 |
G |
A |
17: 29,916,143 (GRCm39) |
R591H |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 105,169,130 (GRCm39) |
S34T |
possibly damaging |
Het |
| Eri2 |
A |
G |
7: 119,390,389 (GRCm39) |
Y80H |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,596,401 (GRCm39) |
E304G |
probably damaging |
Het |
| Fam135a |
A |
C |
1: 24,094,979 (GRCm39) |
L130V |
probably damaging |
Het |
| Fancb |
A |
T |
X: 163,774,594 (GRCm39) |
K410N |
probably damaging |
Het |
| Gabpb2 |
A |
C |
3: 95,107,502 (GRCm39) |
V191G |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,345,893 (GRCm39) |
H197R |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,365 (GRCm39) |
V105A |
unknown |
Het |
| Hectd3 |
T |
A |
4: 116,856,840 (GRCm39) |
D462E |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,315,334 (GRCm39) |
V1139L |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,901,183 (GRCm39) |
F190L |
probably damaging |
Het |
| Krt87 |
G |
A |
15: 101,336,327 (GRCm39) |
H109Y |
probably benign |
Het |
| Lmf2 |
T |
C |
15: 89,238,771 (GRCm39) |
Y115C |
probably benign |
Het |
| Papolg |
T |
A |
11: 23,826,377 (GRCm39) |
Y259F |
possibly damaging |
Het |
| Parn |
T |
C |
16: 13,485,467 (GRCm39) |
I10V |
probably benign |
Het |
| Pdcd11 |
T |
A |
19: 47,102,989 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,583,465 (GRCm39) |
Q1003L |
possibly damaging |
Het |
| Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,138,701 (GRCm39) |
L317P |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,634,620 (GRCm39) |
|
probably benign |
Het |
| Prdm16 |
G |
A |
4: 154,426,426 (GRCm39) |
T453M |
possibly damaging |
Het |
| Rnf144b |
A |
T |
13: 47,360,969 (GRCm39) |
E36D |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,750,388 (GRCm39) |
T1961I |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,627,177 (GRCm39) |
K305I |
probably damaging |
Het |
| Tbc1d7 |
A |
T |
13: 43,312,797 (GRCm39) |
I32N |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,541,016 (GRCm39) |
G297R |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,551,297 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,649 (GRCm39) |
N151D |
probably damaging |
Het |
|
| Other mutations in Thop1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00792:Thop1
|
APN |
10 |
80,914,433 (GRCm39) |
nonsense |
probably null |
|
|
R0241:Thop1
|
UTSW |
10 |
80,916,079 (GRCm39) |
unclassified |
probably benign |
|
|
R0842:Thop1
|
UTSW |
10 |
80,911,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Thop1
|
UTSW |
10 |
80,909,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Thop1
|
UTSW |
10 |
80,909,151 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2507:Thop1
|
UTSW |
10 |
80,906,098 (GRCm39) |
start codon destroyed |
probably null |
0.47 |
|
R2905:Thop1
|
UTSW |
10 |
80,915,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2930:Thop1
|
UTSW |
10 |
80,909,148 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3898:Thop1
|
UTSW |
10 |
80,916,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3899:Thop1
|
UTSW |
10 |
80,916,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Thop1
|
UTSW |
10 |
80,909,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4924:Thop1
|
UTSW |
10 |
80,916,028 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4926:Thop1
|
UTSW |
10 |
80,909,201 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5092:Thop1
|
UTSW |
10 |
80,916,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5968:Thop1
|
UTSW |
10 |
80,911,393 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6370:Thop1
|
UTSW |
10 |
80,913,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6733:Thop1
|
UTSW |
10 |
80,917,246 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6853:Thop1
|
UTSW |
10 |
80,911,495 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7355:Thop1
|
UTSW |
10 |
80,911,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7750:Thop1
|
UTSW |
10 |
80,916,025 (GRCm39) |
missense |
probably benign |
|
|
R8030:Thop1
|
UTSW |
10 |
80,911,450 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8070:Thop1
|
UTSW |
10 |
80,915,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8415:Thop1
|
UTSW |
10 |
80,914,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Thop1
|
UTSW |
10 |
80,916,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Thop1
|
UTSW |
10 |
80,915,972 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9041:Thop1
|
UTSW |
10 |
80,917,228 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9422:Thop1
|
UTSW |
10 |
80,916,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1191:Thop1
|
UTSW |
10 |
80,909,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation