Incidental Mutation 'IGL01694:Lap3'
| ID |
104228 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lap3
|
| Ensembl Gene |
ENSMUSG00000039682 |
| Gene Name |
leucine aminopeptidase 3 |
| Synonyms |
Pep7, Pep-S, LAP, peptidase S, Pep-7 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
45650716-45670033 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 45655937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046122]
[ENSMUST00000198534]
|
| AlphaFold |
Q9CPY7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046122
|
| SMART Domains |
Protein: ENSMUSP00000040222
Gene: ENSMUSG00000039682
| 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 |
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
G |
14: 35,818,659 (GRCm39) |
*219W |
probably null |
Het |
| Abi1 |
G |
A |
2: 22,850,725 (GRCm39) |
T238M |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,631,418 (GRCm39) |
L259F |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,319,938 (GRCm39) |
I1413F |
probably damaging |
Het |
| Ddx21 |
T |
A |
10: 62,434,430 (GRCm39) |
K110* |
probably null |
Het |
| Dnm1l |
A |
T |
16: 16,134,515 (GRCm39) |
I463N |
probably benign |
Het |
| Dst |
C |
A |
1: 34,227,241 (GRCm39) |
H1286Q |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,156,693 (GRCm39) |
N67K |
probably benign |
Het |
| Eps8l3 |
G |
A |
3: 107,799,624 (GRCm39) |
C578Y |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,398,272 (GRCm39) |
I944F |
probably benign |
Het |
| Itga10 |
A |
T |
3: 96,559,833 (GRCm39) |
D496V |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 26,882,738 (GRCm39) |
K2608N |
possibly damaging |
Het |
| Madd |
T |
C |
2: 90,988,320 (GRCm39) |
|
probably benign |
Het |
| Mdh1b |
T |
A |
1: 63,750,265 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,370,850 (GRCm39) |
|
probably benign |
Het |
| Opalin |
A |
G |
19: 41,052,239 (GRCm39) |
|
probably benign |
Het |
| Or4e2 |
A |
G |
14: 52,688,041 (GRCm39) |
N57S |
probably benign |
Het |
| Plxna3 |
T |
A |
X: 73,382,114 (GRCm39) |
D1291E |
probably damaging |
Het |
| Prss40 |
T |
A |
1: 34,595,178 (GRCm39) |
I101F |
probably benign |
Het |
| Rpl5 |
T |
C |
5: 108,055,106 (GRCm39) |
Y253H |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,259 (GRCm39) |
I278T |
probably benign |
Het |
| Slc25a34 |
G |
A |
4: 141,349,564 (GRCm39) |
A197V |
probably benign |
Het |
| Slco6d1 |
C |
T |
1: 98,427,570 (GRCm39) |
R634W |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,577,166 (GRCm39) |
A871D |
probably damaging |
Het |
| Speer2 |
C |
T |
16: 69,655,000 (GRCm39) |
S155N |
probably damaging |
Het |
| Speer2 |
T |
A |
16: 69,655,001 (GRCm39) |
S155C |
probably damaging |
Het |
| Spink12 |
T |
A |
18: 44,240,827 (GRCm39) |
V71E |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,278,475 (GRCm39) |
D1011G |
possibly damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,210,624 (GRCm39) |
T78I |
possibly damaging |
Het |
| Tub |
T |
C |
7: 108,620,243 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,802,631 (GRCm39) |
V644D |
probably damaging |
Het |
| Zfp7 |
C |
T |
15: 76,774,995 (GRCm39) |
Q346* |
probably null |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation