Incidental Mutation 'R6733:Thop1'
| ID |
530149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thop1
|
| Ensembl Gene |
ENSMUSG00000004929 |
| Gene Name |
thimet oligopeptidase 1 |
| Synonyms |
EP24.15 |
| MMRRC Submission |
044851-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.628)
|
| Stock # |
R6733 (G1)
|
| Quality Score |
185.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80905917-80918194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80917246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 583
(I583N)
|
| 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: I583N
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005057
Gene: ENSMUSG00000004929
AA Change: I583N
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
| Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
| Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
| Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
| H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
| Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
| Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
| Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
| Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
| Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
| Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
| Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
| Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
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 |
|
|
IGL00987:Thop1
|
APN |
10 |
80,917,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGTGAGAACCTTTGCAG -3'
(R):5'- AGTACTGAGCATCATAGCCGC -3'
Sequencing Primer
(F):5'- GAGAACCTTTGCAGTGCTTTC -3'
(R):5'- ATGTTGGTACCTGGGCAGACAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation