Incidental Mutation 'R1294:Lap3'
| ID |
158014 |
| 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 |
039360-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
45650716-45670033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45655863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 156
(V156A)
|
| 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: V156A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000040222
Gene: ENSMUSG00000039682
AA Change: V156A
| 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 |
noncoding transcript
Transcript: ENSMUST00000131289
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137699
|
| 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 |
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
97% (33/34) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C2cd2 |
A |
G |
16: 97,723,469 (GRCm39) |
L16P |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,463,731 (GRCm39) |
|
probably null |
Het |
| Cnn2 |
A |
G |
10: 79,829,359 (GRCm39) |
D163G |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,748,052 (GRCm39) |
D233G |
probably damaging |
Het |
| Csta2 |
T |
A |
16: 36,077,618 (GRCm39) |
D58E |
probably damaging |
Het |
| Dhh |
T |
C |
15: 98,792,264 (GRCm39) |
Q248R |
probably benign |
Het |
| Elavl2 |
G |
A |
4: 91,199,826 (GRCm39) |
A19V |
probably benign |
Het |
| Fxr1 |
T |
A |
3: 34,101,201 (GRCm39) |
M169K |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,418,128 (GRCm39) |
|
probably null |
Het |
| Gm5334 |
T |
C |
7: 68,268,862 (GRCm39) |
S94P |
probably damaging |
Het |
| Klk1b3 |
C |
A |
7: 43,849,720 (GRCm39) |
S35Y |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
| Pcbp3 |
A |
G |
10: 76,599,155 (GRCm39) |
I327T |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,592,015 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,889,886 (GRCm39) |
N35I |
probably damaging |
Het |
| Rab3c |
T |
C |
13: 110,397,099 (GRCm39) |
T56A |
possibly damaging |
Het |
| Rapsn |
A |
T |
2: 90,867,120 (GRCm39) |
K141* |
probably null |
Het |
| Rxrg |
G |
T |
1: 167,441,470 (GRCm39) |
A83S |
probably benign |
Het |
| Serpinc1 |
T |
C |
1: 160,817,211 (GRCm39) |
S102P |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,575 (GRCm39) |
N797D |
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,060,040 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
T |
9: 64,843,295 (GRCm39) |
V619E |
unknown |
Het |
| Slc25a20 |
A |
G |
9: 108,554,838 (GRCm39) |
M128V |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,796,906 (GRCm39) |
I286V |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,381,027 (GRCm39) |
F479Y |
probably damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,837,208 (GRCm39) |
|
probably null |
Het |
| Trim58 |
T |
A |
11: 58,533,953 (GRCm39) |
I169N |
probably benign |
Het |
| Vmn1r25 |
A |
G |
6: 57,955,464 (GRCm39) |
I275T |
possibly damaging |
Het |
| Zfp27 |
T |
A |
7: 29,595,737 (GRCm39) |
Y76F |
possibly damaging |
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 |
|
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 |
|
R8430:Lap3
|
UTSW |
5 |
45,654,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TTAGAAGCAGACGACGGTTGCCAG -3'
(R):5'- TCAGGAGCCACAGAGGATTCACAC -3'
Sequencing Primer
(F):5'- ACGGTTGCCAGTTTGTTCC -3'
(R):5'- TTGGGGACAACTATCACACTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation