Incidental Mutation 'R1157:Lap3'
| ID |
101791 |
| 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 |
039230-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1157 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
45650716-45670033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45664490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 373
(D373E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046122]
[ENSMUST00000198534]
|
| AlphaFold |
Q9CPY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046122
AA Change: D373E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040222
Gene: ENSMUSG00000039682
AA Change: D373E
| 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: ENSMUST00000146811
|
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
C |
A |
3: 95,590,971 (GRCm39) |
S332I |
possibly damaging |
Het |
| Alpl |
A |
G |
4: 137,481,331 (GRCm39) |
V107A |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,976,349 (GRCm39) |
F442L |
probably damaging |
Het |
| Cachd1 |
T |
A |
4: 100,832,037 (GRCm39) |
M733K |
possibly damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,390,650 (GRCm39) |
C1061S |
probably benign |
Het |
| Crispld1 |
G |
A |
1: 17,815,587 (GRCm39) |
V90M |
possibly damaging |
Het |
| Ergic1 |
T |
A |
17: 26,833,369 (GRCm39) |
L41Q |
probably damaging |
Het |
| Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
| Gas2l2 |
G |
A |
11: 83,314,154 (GRCm39) |
P386L |
probably benign |
Het |
| Gm21726 |
T |
C |
13: 90,731,724 (GRCm39) |
|
noncoding transcript |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Iqsec1 |
A |
G |
6: 90,646,366 (GRCm39) |
V771A |
possibly damaging |
Het |
| Klhl29 |
T |
C |
12: 5,140,650 (GRCm39) |
N664S |
possibly damaging |
Het |
| Krit1 |
T |
C |
5: 3,882,176 (GRCm39) |
Y659H |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,865,892 (GRCm39) |
I1283T |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,912,031 (GRCm39) |
Y1843C |
probably benign |
Het |
| Mapre1 |
T |
A |
2: 153,599,937 (GRCm39) |
D120E |
probably benign |
Het |
| Mgp |
A |
T |
6: 136,850,204 (GRCm39) |
M44K |
possibly damaging |
Het |
| Mrps25 |
A |
T |
6: 92,160,947 (GRCm39) |
M3K |
probably damaging |
Het |
| Myo3a |
G |
T |
2: 22,434,456 (GRCm39) |
|
probably null |
Het |
| Nedd9 |
C |
T |
13: 41,467,979 (GRCm39) |
|
probably null |
Het |
| Or52e4 |
A |
G |
7: 104,706,091 (GRCm39) |
I213V |
probably benign |
Het |
| Or6c8b |
T |
G |
10: 128,882,027 (GRCm39) |
T302P |
probably benign |
Het |
| Or7c19 |
G |
T |
8: 85,957,889 (GRCm39) |
C255F |
probably damaging |
Het |
| Pate12 |
G |
A |
9: 36,344,143 (GRCm39) |
C42Y |
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pigs |
T |
C |
11: 78,219,820 (GRCm39) |
V65A |
possibly damaging |
Het |
| Pip5k1a |
G |
A |
3: 94,985,423 (GRCm39) |
T60I |
probably benign |
Het |
| Rp9 |
A |
T |
9: 22,370,036 (GRCm39) |
Y44N |
probably damaging |
Het |
| Tcea1 |
T |
A |
1: 4,959,670 (GRCm39) |
|
probably null |
Het |
| Trim33 |
C |
T |
3: 103,261,146 (GRCm39) |
T1098I |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,529,314 (GRCm39) |
I263F |
possibly damaging |
Het |
| Wdr12 |
A |
T |
1: 60,117,389 (GRCm39) |
S402R |
probably damaging |
Het |
| Zfp619 |
A |
G |
7: 39,186,282 (GRCm39) |
S771G |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation