Incidental Mutation 'R8430:Lap3'
ID |
653701 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lap3
|
Ensembl Gene |
ENSMUSG00000039682 |
Gene Name |
leucine aminopeptidase 3 |
Synonyms |
Pep7, Pep-S, LAP, peptidase S, Pep-7 |
MMRRC Submission |
067775-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8430 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
45650716-45670033 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45654726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 110
(D110G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040222
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046122]
[ENSMUST00000198534]
|
AlphaFold |
Q9CPY7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046122
AA Change: D110G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000040222 Gene: ENSMUSG00000039682 AA Change: D110G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
Pfam:Peptidase_M17_N
|
37 |
169 |
1.5e-21 |
PFAM |
Pfam:Peptidase_M17
|
197 |
508 |
1.3e-119 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198534
|
SMART Domains |
Protein: ENSMUSP00000142831 Gene: ENSMUSG00000039682
Domain | Start | End | E-Value | Type |
SCOP:d1lam_1
|
11 |
56 |
2e-10 |
SMART |
PDB:1LCP|B
|
12 |
107 |
5e-25 |
PDB |
SCOP:d1lam_2
|
63 |
106 |
2e-12 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and developmentally normal with no detectable abnormalities in generating peptides presented by MHC class I under constitutive conditions or after stimulation with IFN. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
G |
A |
6: 23,078,981 (GRCm39) |
T677I |
probably benign |
Het |
Adh4 |
T |
G |
3: 138,128,145 (GRCm39) |
N190K |
probably damaging |
Het |
Ahnak2 |
A |
T |
12: 112,741,121 (GRCm39) |
S984T |
possibly damaging |
Het |
Aknad1 |
A |
G |
3: 108,659,037 (GRCm39) |
D17G |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,620,105 (GRCm39) |
N1249S |
probably benign |
Het |
Ankrd31 |
A |
G |
13: 96,988,199 (GRCm39) |
K1071E |
possibly damaging |
Het |
Atp1a3 |
A |
G |
7: 24,698,437 (GRCm39) |
L120P |
probably damaging |
Het |
AU040320 |
C |
A |
4: 126,742,693 (GRCm39) |
A986E |
possibly damaging |
Het |
Camkv |
T |
C |
9: 107,824,968 (GRCm39) |
M323T |
probably damaging |
Het |
Cdh18 |
T |
G |
15: 23,226,770 (GRCm39) |
L77R |
probably damaging |
Het |
Col24a1 |
C |
T |
3: 145,021,060 (GRCm39) |
T477M |
probably damaging |
Het |
Cpeb3 |
A |
T |
19: 37,002,406 (GRCm39) |
F669I |
probably damaging |
Het |
Cramp1 |
A |
T |
17: 25,196,536 (GRCm39) |
H859Q |
probably damaging |
Het |
Csnk1g1 |
C |
A |
9: 65,906,803 (GRCm39) |
T140K |
probably damaging |
Het |
Ctnnbl1 |
A |
G |
2: 157,678,603 (GRCm39) |
E402G |
probably damaging |
Het |
Cyp20a1 |
T |
C |
1: 60,402,488 (GRCm39) |
V191A |
possibly damaging |
Het |
Dkk3 |
A |
G |
7: 111,720,853 (GRCm39) |
Y158H |
probably damaging |
Het |
Fgfr2 |
T |
C |
7: 129,765,708 (GRCm39) |
N835S |
probably damaging |
Het |
Fggy |
GCACCA |
GCA |
4: 95,815,002 (GRCm39) |
|
probably benign |
Het |
Gpatch1 |
G |
A |
7: 35,007,634 (GRCm39) |
T142M |
probably damaging |
Het |
Gtf3c2 |
G |
A |
5: 31,330,403 (GRCm39) |
A189V |
probably damaging |
Het |
Heatr5b |
T |
C |
17: 79,137,053 (GRCm39) |
I156V |
probably damaging |
Het |
Itpka |
T |
A |
2: 119,580,035 (GRCm39) |
V258E |
probably damaging |
Het |
Klhdc4 |
A |
G |
8: 122,526,252 (GRCm39) |
S327P |
possibly damaging |
Het |
L1td1 |
C |
T |
4: 98,626,109 (GRCm39) |
T702I |
probably damaging |
Het |
Mab21l1 |
C |
A |
3: 55,690,830 (GRCm39) |
A139E |
probably damaging |
Het |
Myo15b |
G |
A |
11: 115,773,049 (GRCm39) |
V173M |
probably benign |
Het |
Or12e1 |
T |
G |
2: 87,022,564 (GRCm39) |
S178A |
possibly damaging |
Het |
Or2a57 |
G |
A |
6: 43,212,894 (GRCm39) |
M117I |
probably benign |
Het |
Or52ab4 |
G |
T |
7: 102,988,164 (GRCm39) |
R301L |
probably benign |
Het |
Or5m10b |
A |
T |
2: 85,699,526 (GRCm39) |
M197L |
probably benign |
Het |
Rdh7 |
A |
G |
10: 127,723,495 (GRCm39) |
I120T |
probably benign |
Het |
Rsph3a |
G |
T |
17: 8,171,403 (GRCm39) |
G173W |
probably damaging |
Het |
Sec22b |
T |
C |
3: 97,828,546 (GRCm39) |
F203S |
probably benign |
Het |
Sulf2 |
C |
T |
2: 165,916,736 (GRCm39) |
G867E |
probably benign |
Het |
Tia1 |
A |
T |
6: 86,395,906 (GRCm39) |
D90V |
probably benign |
Het |
Tiam2 |
A |
G |
17: 3,568,537 (GRCm39) |
D1561G |
probably benign |
Het |
Trav9d-1 |
A |
G |
14: 53,030,217 (GRCm39) |
Y107C |
probably damaging |
Het |
Trim32 |
T |
C |
4: 65,532,943 (GRCm39) |
V500A |
probably damaging |
Het |
Ube2f |
G |
A |
1: 91,181,989 (GRCm39) |
|
probably benign |
Het |
Ulk4 |
C |
T |
9: 121,086,144 (GRCm39) |
|
probably null |
Het |
Zfp940 |
A |
G |
7: 29,544,771 (GRCm39) |
F379L |
probably benign |
Het |
|
Other mutations in Lap3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Lap3
|
APN |
5 |
45,663,511 (GRCm39) |
unclassified |
probably benign |
|
IGL00945:Lap3
|
APN |
5 |
45,662,115 (GRCm39) |
splice site |
probably null |
|
IGL01694:Lap3
|
APN |
5 |
45,655,937 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02427:Lap3
|
APN |
5 |
45,668,475 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02751:Lap3
|
APN |
5 |
45,662,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R0110:Lap3
|
UTSW |
5 |
45,652,632 (GRCm39) |
splice site |
probably benign |
|
R0666:Lap3
|
UTSW |
5 |
45,669,270 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1023:Lap3
|
UTSW |
5 |
45,652,553 (GRCm39) |
missense |
probably benign |
0.04 |
R1157:Lap3
|
UTSW |
5 |
45,664,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R1294:Lap3
|
UTSW |
5 |
45,655,863 (GRCm39) |
missense |
probably benign |
0.03 |
R1449:Lap3
|
UTSW |
5 |
45,666,861 (GRCm39) |
critical splice donor site |
probably null |
|
R1869:Lap3
|
UTSW |
5 |
45,660,729 (GRCm39) |
missense |
probably benign |
0.00 |
R1900:Lap3
|
UTSW |
5 |
45,669,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R1971:Lap3
|
UTSW |
5 |
45,663,508 (GRCm39) |
unclassified |
probably benign |
|
R2009:Lap3
|
UTSW |
5 |
45,650,899 (GRCm39) |
missense |
probably benign |
0.37 |
R4171:Lap3
|
UTSW |
5 |
45,666,833 (GRCm39) |
missense |
probably benign |
0.45 |
R4708:Lap3
|
UTSW |
5 |
45,668,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R4941:Lap3
|
UTSW |
5 |
45,663,539 (GRCm39) |
missense |
probably benign |
0.19 |
R5558:Lap3
|
UTSW |
5 |
45,662,093 (GRCm39) |
missense |
probably benign |
0.00 |
R5761:Lap3
|
UTSW |
5 |
45,662,147 (GRCm39) |
missense |
probably benign |
0.01 |
R5893:Lap3
|
UTSW |
5 |
45,668,621 (GRCm39) |
intron |
probably benign |
|
R6407:Lap3
|
UTSW |
5 |
45,669,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R7144:Lap3
|
UTSW |
5 |
45,654,290 (GRCm39) |
missense |
probably benign |
0.00 |
R7161:Lap3
|
UTSW |
5 |
45,655,809 (GRCm39) |
missense |
probably benign |
0.23 |
R7489:Lap3
|
UTSW |
5 |
45,657,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R8163:Lap3
|
UTSW |
5 |
45,669,389 (GRCm39) |
nonsense |
probably null |
|
R8175:Lap3
|
UTSW |
5 |
45,666,833 (GRCm39) |
missense |
probably benign |
0.45 |
R8883:Lap3
|
UTSW |
5 |
45,669,272 (GRCm39) |
missense |
probably benign |
0.01 |
R9022:Lap3
|
UTSW |
5 |
45,652,548 (GRCm39) |
missense |
probably benign |
|
R9046:Lap3
|
UTSW |
5 |
45,652,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTACTTACCAACACACAGGG -3'
(R):5'- CACAAGCTAGCCTCTGTGTC -3'
Sequencing Primer
(F):5'- CAGGGCTCCTGTTTGTTAAACCTAG -3'
(R):5'- GTCTAGGTAAGGTCAGACACATCTC -3'
|
Posted On |
2020-10-20 |