Incidental Mutation 'R2930:Thop1'
ID |
264518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thop1
|
Ensembl Gene |
ENSMUSG00000004929 |
Gene Name |
thimet oligopeptidase 1 |
Synonyms |
EP24.15 |
MMRRC Submission |
040512-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.545)
|
Stock # |
R2930 (G1)
|
Quality Score |
100 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
80905917-80918194 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80909148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 60
(S60P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005057]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005057
AA Change: S60P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000005057 Gene: ENSMUSG00000004929 AA Change: S60P
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M3
|
227 |
677 |
7e-165 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166015
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171484
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
T |
2: 69,087,702 (GRCm39) |
V1021D |
probably damaging |
Het |
Abcc3 |
T |
C |
11: 94,252,636 (GRCm39) |
N749S |
probably damaging |
Het |
Adap1 |
T |
C |
5: 139,293,621 (GRCm39) |
D30G |
probably benign |
Het |
Camk2d |
C |
A |
3: 126,601,880 (GRCm39) |
H356Q |
possibly damaging |
Het |
Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
Cfap74 |
G |
A |
4: 155,522,627 (GRCm39) |
S671N |
probably damaging |
Het |
Cul7 |
C |
G |
17: 46,962,526 (GRCm39) |
D52E |
probably benign |
Het |
Dsn1 |
T |
C |
2: 156,847,381 (GRCm39) |
D19G |
probably damaging |
Het |
Fndc3b |
T |
C |
3: 27,524,435 (GRCm39) |
T442A |
probably benign |
Het |
Hsd3b5 |
C |
T |
3: 98,526,528 (GRCm39) |
R306H |
probably benign |
Het |
Ilf3 |
A |
G |
9: 21,310,886 (GRCm39) |
K617E |
possibly damaging |
Het |
Krt75 |
C |
T |
15: 101,476,466 (GRCm39) |
R433Q |
probably benign |
Het |
Myrfl |
C |
T |
10: 116,653,652 (GRCm39) |
V472I |
probably damaging |
Het |
Plxna4 |
A |
G |
6: 32,142,715 (GRCm39) |
L1580P |
probably damaging |
Het |
Tshz3 |
G |
A |
7: 36,471,017 (GRCm39) |
R1002Q |
possibly damaging |
Het |
Zbtb4 |
G |
T |
11: 69,667,342 (GRCm39) |
G216* |
probably null |
Het |
Zfp729b |
A |
G |
13: 67,739,973 (GRCm39) |
L764S |
probably benign |
Het |
Zmym4 |
T |
C |
4: 126,819,316 (GRCm39) |
S196G |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTCATGACATCGCTACTTCAG -3'
(R):5'- GGAGCTGACACCTGGTAAAC -3'
Sequencing Primer
(F):5'- TTGCTCTGGACCTGCTGAGAC -3'
(R):5'- TGGTAAACAGAAGCCACAGATGC -3'
|
Posted On |
2015-02-05 |