Incidental Mutation 'IGL02481:Rnpepl1'
| ID |
295203 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnpepl1
|
| Ensembl Gene |
ENSMUSG00000026269 |
| Gene Name |
arginyl aminopeptidase (aminopeptidase B)-like 1 |
| Synonyms |
1110014H17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02481
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
92837697-92848307 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 92843629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 250
(P250S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027487]
[ENSMUST00000178116]
|
| AlphaFold |
G5E872 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027487
AA Change: P250S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027487
Gene: ENSMUSG00000026269
AA Change: P250S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
36 |
440 |
3e-58 |
PFAM |
|
Leuk-A4-hydro_C
|
523 |
668 |
1.31e-46 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178116
|
| SMART Domains |
Protein: ENSMUSP00000136080
Gene: ENSMUSG00000026269
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M1
|
5 |
170 |
1.2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178662
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178816
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179127
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000179993
AA Change: P164S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180306
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179854
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179837
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179531
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b8 |
G |
A |
6: 34,340,729 (GRCm39) |
A209T |
probably damaging |
Het |
| Ccdc90b |
G |
A |
7: 92,223,854 (GRCm39) |
V117I |
probably benign |
Het |
| Cdkl2 |
A |
T |
5: 92,185,130 (GRCm39) |
I87N |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,438,302 (GRCm39) |
E863V |
probably damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,790,701 (GRCm39) |
S457L |
possibly damaging |
Het |
| Crim1 |
C |
T |
17: 78,658,227 (GRCm39) |
T702I |
probably damaging |
Het |
| Cysltr1 |
C |
A |
X: 105,621,728 (GRCm39) |
V253L |
probably damaging |
Het |
| Dgcr6 |
G |
A |
16: 17,883,038 (GRCm39) |
A6T |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,226,362 (GRCm39) |
|
probably null |
Het |
| Dnm3 |
A |
G |
1: 161,838,471 (GRCm39) |
S826P |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,323,514 (GRCm39) |
N219S |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,795,914 (GRCm39) |
|
probably benign |
Het |
| Erc2 |
T |
A |
14: 27,375,028 (GRCm39) |
L82Q |
probably damaging |
Het |
| Ercc6l |
T |
C |
X: 101,188,275 (GRCm39) |
T745A |
probably benign |
Het |
| Gata4 |
T |
C |
14: 63,437,910 (GRCm39) |
T414A |
probably benign |
Het |
| Gmps |
A |
G |
3: 63,921,773 (GRCm39) |
D592G |
probably damaging |
Het |
| Grin3a |
A |
G |
4: 49,702,868 (GRCm39) |
Y873H |
probably damaging |
Het |
| Gsr |
T |
C |
8: 34,175,569 (GRCm39) |
|
probably benign |
Het |
| Gtf2h1 |
T |
C |
7: 46,454,417 (GRCm39) |
L133P |
probably damaging |
Het |
| Ifna5 |
A |
C |
4: 88,754,327 (GRCm39) |
E189A |
probably benign |
Het |
| Irx5 |
A |
G |
8: 93,087,307 (GRCm39) |
Y413C |
probably damaging |
Het |
| Kcnk3 |
A |
G |
5: 30,779,727 (GRCm39) |
E259G |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,282,299 (GRCm39) |
|
probably benign |
Het |
| Kif19a |
A |
G |
11: 114,679,979 (GRCm39) |
E772G |
probably benign |
Het |
| Klhdc7a |
T |
A |
4: 139,693,121 (GRCm39) |
T609S |
probably benign |
Het |
| Krt78 |
C |
A |
15: 101,856,853 (GRCm39) |
|
probably benign |
Het |
| Lca5 |
A |
T |
9: 83,305,170 (GRCm39) |
I212N |
probably damaging |
Het |
| Lgr6 |
T |
C |
1: 134,929,429 (GRCm39) |
|
probably benign |
Het |
| Madd |
T |
G |
2: 91,008,381 (GRCm39) |
T174P |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,502,033 (GRCm39) |
I184T |
probably damaging |
Het |
| Mlycd |
G |
A |
8: 120,137,073 (GRCm39) |
R431H |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,692,994 (GRCm39) |
A1393T |
probably benign |
Het |
| Myof |
G |
T |
19: 37,926,361 (GRCm39) |
Y1144* |
probably null |
Het |
| Nbeal2 |
G |
A |
9: 110,455,063 (GRCm39) |
Q2578* |
probably null |
Het |
| Nlrp4f |
T |
A |
13: 65,342,548 (GRCm39) |
T366S |
probably benign |
Het |
| Nnat |
T |
C |
2: 157,403,167 (GRCm39) |
F36S |
possibly damaging |
Het |
| Nsd3 |
C |
A |
8: 26,181,143 (GRCm39) |
P915T |
probably damaging |
Het |
| Or10ak12 |
C |
T |
4: 118,666,696 (GRCm39) |
V122M |
probably benign |
Het |
| Or10k2 |
A |
C |
8: 84,268,015 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or1n1 |
A |
T |
2: 36,749,830 (GRCm39) |
C177S |
probably damaging |
Het |
| Or2g25 |
A |
G |
17: 37,970,363 (GRCm39) |
L287P |
probably damaging |
Het |
| Or4l1 |
G |
A |
14: 50,166,164 (GRCm39) |
T279I |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,341,414 (GRCm39) |
N89S |
unknown |
Het |
| Pkd2 |
T |
C |
5: 104,634,636 (GRCm39) |
F556L |
probably damaging |
Het |
| Psen2 |
T |
A |
1: 180,062,626 (GRCm39) |
M239L |
probably damaging |
Het |
| Rad50 |
A |
G |
11: 53,570,876 (GRCm39) |
I794T |
probably benign |
Het |
| Ralgps1 |
G |
A |
2: 33,230,741 (GRCm39) |
T14I |
probably benign |
Het |
| Skic8 |
T |
C |
9: 54,635,545 (GRCm39) |
I19V |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,227,067 (GRCm39) |
V167A |
possibly damaging |
Het |
| Tmem161b |
T |
A |
13: 84,432,112 (GRCm39) |
V41D |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,611 (GRCm39) |
E308D |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,476,903 (GRCm39) |
E3148K |
probably damaging |
Het |
|
| Other mutations in Rnpepl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01152:Rnpepl1
|
APN |
1 |
92,843,621 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01291:Rnpepl1
|
APN |
1 |
92,847,468 (GRCm39) |
missense |
probably benign |
|
|
IGL02266:Rnpepl1
|
APN |
1 |
92,844,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Rnpepl1
|
APN |
1 |
92,843,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03377:Rnpepl1
|
APN |
1 |
92,846,953 (GRCm39) |
missense |
probably benign |
0.01 |
|
ANU05:Rnpepl1
|
UTSW |
1 |
92,847,468 (GRCm39) |
missense |
probably benign |
|
|
R0069:Rnpepl1
|
UTSW |
1 |
92,846,620 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0409:Rnpepl1
|
UTSW |
1 |
92,843,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0479:Rnpepl1
|
UTSW |
1 |
92,846,587 (GRCm39) |
unclassified |
probably benign |
|
|
R1155:Rnpepl1
|
UTSW |
1 |
92,844,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Rnpepl1
|
UTSW |
1 |
92,846,917 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1397:Rnpepl1
|
UTSW |
1 |
92,844,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Rnpepl1
|
UTSW |
1 |
92,844,944 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2184:Rnpepl1
|
UTSW |
1 |
92,844,545 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2187:Rnpepl1
|
UTSW |
1 |
92,844,617 (GRCm39) |
missense |
probably null |
1.00 |
|
R2211:Rnpepl1
|
UTSW |
1 |
92,844,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2902:Rnpepl1
|
UTSW |
1 |
92,844,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3105:Rnpepl1
|
UTSW |
1 |
92,844,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3196:Rnpepl1
|
UTSW |
1 |
92,844,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3439:Rnpepl1
|
UTSW |
1 |
92,844,662 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4887:Rnpepl1
|
UTSW |
1 |
92,842,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Rnpepl1
|
UTSW |
1 |
92,844,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5212:Rnpepl1
|
UTSW |
1 |
92,839,045 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5214:Rnpepl1
|
UTSW |
1 |
92,847,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5385:Rnpepl1
|
UTSW |
1 |
92,844,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Rnpepl1
|
UTSW |
1 |
92,847,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Rnpepl1
|
UTSW |
1 |
92,846,663 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5940:Rnpepl1
|
UTSW |
1 |
92,845,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Rnpepl1
|
UTSW |
1 |
92,844,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6086:Rnpepl1
|
UTSW |
1 |
92,845,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6104:Rnpepl1
|
UTSW |
1 |
92,843,606 (GRCm39) |
missense |
probably benign |
|
|
R6349:Rnpepl1
|
UTSW |
1 |
92,847,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Rnpepl1
|
UTSW |
1 |
92,846,917 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7402:Rnpepl1
|
UTSW |
1 |
92,847,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7474:Rnpepl1
|
UTSW |
1 |
92,846,694 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7714:Rnpepl1
|
UTSW |
1 |
92,844,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9408:Rnpepl1
|
UTSW |
1 |
92,845,424 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9566:Rnpepl1
|
UTSW |
1 |
92,847,468 (GRCm39) |
missense |
|
|
|
R9591:Rnpepl1
|
UTSW |
1 |
92,847,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9773:Rnpepl1
|
UTSW |
1 |
92,847,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation