Incidental Mutation 'R2905:Thop1'
ID |
261625 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thop1
|
Ensembl Gene |
ENSMUSG00000004929 |
Gene Name |
thimet oligopeptidase 1 |
Synonyms |
EP24.15 |
MMRRC Submission |
040492-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.628)
|
Stock # |
R2905 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
80905917-80918194 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80915425 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 295
(L295P)
|
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: L295P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005057 Gene: ENSMUSG00000004929 AA Change: L295P
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: ENSMUST00000167658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171484
|
Meta Mutation Damage Score |
0.9600 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (32/32) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ajap1 |
C |
A |
4: 153,517,284 (GRCm39) |
R19L |
probably benign |
Het |
Alk |
A |
C |
17: 72,292,489 (GRCm39) |
S496R |
probably benign |
Het |
Arhgap15 |
T |
C |
2: 43,953,798 (GRCm39) |
F175L |
probably damaging |
Het |
Col12a1 |
G |
T |
9: 79,559,307 (GRCm39) |
S1860R |
probably damaging |
Het |
Cuedc2 |
C |
T |
19: 46,321,088 (GRCm39) |
V15I |
probably benign |
Het |
Dennd3 |
T |
A |
15: 73,429,495 (GRCm39) |
L4Q |
probably damaging |
Het |
Dusp8 |
T |
A |
7: 141,637,126 (GRCm39) |
K234* |
probably null |
Het |
Dzip1l |
A |
G |
9: 99,545,722 (GRCm39) |
E657G |
probably damaging |
Het |
F7 |
C |
T |
8: 13,084,775 (GRCm39) |
T267I |
probably benign |
Het |
Gm9791 |
T |
C |
3: 34,059,336 (GRCm39) |
|
noncoding transcript |
Het |
Hmcn1 |
A |
G |
1: 150,624,786 (GRCm39) |
S1040P |
probably damaging |
Het |
Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
Jtb |
C |
G |
3: 90,139,799 (GRCm39) |
P62R |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Ly6m |
T |
A |
15: 74,751,716 (GRCm39) |
Y106F |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,164,898 (GRCm39) |
V760A |
probably benign |
Het |
Nudt4 |
T |
G |
10: 95,399,571 (GRCm39) |
K17Q |
probably benign |
Het |
Or6c217 |
T |
C |
10: 129,738,269 (GRCm39) |
I103M |
possibly damaging |
Het |
Pde4a |
A |
T |
9: 21,112,645 (GRCm39) |
T274S |
probably benign |
Het |
Pou6f1 |
C |
T |
15: 100,483,839 (GRCm39) |
V220I |
probably benign |
Het |
Relch |
T |
C |
1: 105,619,719 (GRCm39) |
V316A |
probably benign |
Het |
Rif1 |
T |
C |
2: 51,988,516 (GRCm39) |
S752P |
probably damaging |
Het |
Ror2 |
A |
G |
13: 53,286,031 (GRCm39) |
I73T |
probably benign |
Het |
Samhd1 |
A |
T |
2: 156,965,335 (GRCm39) |
F160Y |
possibly damaging |
Het |
Tas2r118 |
A |
G |
6: 23,969,801 (GRCm39) |
F87L |
possibly damaging |
Het |
Tlr12 |
A |
G |
4: 128,509,802 (GRCm39) |
M816T |
probably damaging |
Het |
Trip12 |
T |
C |
1: 84,732,064 (GRCm39) |
N970S |
probably benign |
Het |
Ttll8 |
A |
T |
15: 88,798,680 (GRCm39) |
M685K |
probably benign |
Het |
Ushbp1 |
G |
A |
8: 71,840,179 (GRCm39) |
R491* |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCTGCAGCCTACAACCAG -3'
(R):5'- ATGCAACAGGAGACCTAGCTAC -3'
Sequencing Primer
(F):5'- ACCTGCAGCTCTGGTTGG -3'
(R):5'- GGAGACCTAGCTACATCACCATC -3'
|
Posted On |
2015-01-23 |