Incidental Mutation 'R6407:Lap3'
| ID |
514487 |
| 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 |
044552-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
45650716-45670033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45669267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 472
(V472E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046122]
|
| AlphaFold |
Q9CPY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046122
AA Change: V472E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040222
Gene: ENSMUSG00000039682
AA Change: V472E
| 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: ENSMUST00000146811
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
100% (36/36) |
| 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 |
|---|
| Alpk2 |
T |
C |
18: 65,422,809 (GRCm39) |
Y1963C |
probably benign |
Het |
| Bptf |
T |
A |
11: 107,001,952 (GRCm39) |
N387Y |
probably damaging |
Het |
| C1ql2 |
T |
C |
1: 120,269,340 (GRCm39) |
L165P |
probably damaging |
Het |
| Col5a2 |
C |
A |
1: 45,415,938 (GRCm39) |
C1403F |
probably damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Htr3a |
G |
T |
9: 48,812,355 (GRCm39) |
Y250* |
probably null |
Het |
| Ighg2c |
T |
C |
12: 113,252,271 (GRCm39) |
K94E |
unknown |
Het |
| Ighg3 |
T |
C |
12: 113,323,770 (GRCm39) |
N206S |
unknown |
Het |
| Il36rn |
A |
G |
2: 24,171,365 (GRCm39) |
Y151C |
probably damaging |
Het |
| Kif22 |
G |
A |
7: 126,632,375 (GRCm39) |
R312C |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,234,772 (GRCm39) |
T762A |
probably benign |
Het |
| Mfsd12 |
T |
C |
10: 81,198,067 (GRCm39) |
|
probably null |
Het |
| Mrpl39 |
T |
C |
16: 84,529,273 (GRCm39) |
K123R |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,220,394 (GRCm39) |
T113S |
possibly damaging |
Het |
| Nhp2 |
T |
C |
11: 51,510,730 (GRCm39) |
V29A |
probably benign |
Het |
| Or14a260 |
T |
C |
7: 85,985,277 (GRCm39) |
E109G |
possibly damaging |
Het |
| Pex3 |
T |
C |
10: 13,422,112 (GRCm39) |
R63G |
probably damaging |
Het |
| Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
C |
15: 39,315,724 (GRCm39) |
S617P |
probably damaging |
Het |
| Rnf223 |
A |
T |
4: 156,216,816 (GRCm39) |
T64S |
probably damaging |
Het |
| Rrp12 |
C |
T |
19: 41,872,181 (GRCm39) |
V432M |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,742,528 (GRCm39) |
V100A |
probably benign |
Het |
| Slc17a7 |
C |
T |
7: 44,819,350 (GRCm39) |
A167V |
probably benign |
Het |
| Slc38a6 |
T |
C |
12: 73,356,949 (GRCm39) |
F115S |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,129,645 (GRCm39) |
S1122P |
probably benign |
Het |
| Spdye4a |
T |
C |
5: 143,211,454 (GRCm39) |
T37A |
probably benign |
Het |
| Sphk2 |
T |
C |
7: 45,362,024 (GRCm39) |
T138A |
possibly damaging |
Het |
| Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
| Sult1a1 |
T |
C |
7: 126,272,356 (GRCm39) |
|
probably null |
Het |
| Tmem212 |
A |
G |
3: 27,938,988 (GRCm39) |
V166A |
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,084,952 (GRCm39) |
L317P |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,722,467 (GRCm39) |
T38S |
probably benign |
Het |
| Tshz1 |
C |
A |
18: 84,034,091 (GRCm39) |
V106F |
possibly damaging |
Het |
| Tut4 |
G |
T |
4: 108,415,979 (GRCm39) |
E1648D |
probably damaging |
Het |
| Yap1 |
A |
G |
9: 7,962,373 (GRCm39) |
M225T |
possibly damaging |
Het |
| Zfp74 |
T |
C |
7: 29,635,048 (GRCm39) |
E220G |
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 |
|
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 |
|
|
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'- GGATATGCCATGGTCCTGTG -3'
(R):5'- CCAATTCAAGACAGATGGAGTAATC -3'
Sequencing Primer
(F):5'- TGTGTTCCAGAGACAGCTCAG -3'
(R):5'- TCTGTGAGTGAACTAAGAACTGTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation