Incidental Mutation 'IGL02266:Rnpepl1'
ID |
286886 |
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 # |
IGL02266
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
92837697-92848307 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 92844611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 368
(W368R)
|
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: W368R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027487 Gene: ENSMUSG00000026269 AA Change: W368R
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 |
unknown
Transcript: ENSMUST00000179127
AA Change: W33R
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179854
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180306
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179993
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179531
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179837
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,307,360 (GRCm39) |
Q1974* |
probably null |
Het |
Actl11 |
G |
T |
9: 107,808,382 (GRCm39) |
V902L |
possibly damaging |
Het |
Adam11 |
T |
C |
11: 102,663,493 (GRCm39) |
V274A |
probably damaging |
Het |
Akr1b8 |
A |
G |
6: 34,331,208 (GRCm39) |
I15V |
probably benign |
Het |
Chrm3 |
T |
A |
13: 9,927,314 (GRCm39) |
Q574L |
probably damaging |
Het |
Ciao3 |
T |
A |
17: 25,999,300 (GRCm39) |
I238N |
possibly damaging |
Het |
Crk |
C |
A |
11: 75,570,415 (GRCm39) |
R16S |
probably damaging |
Het |
Ep400 |
T |
C |
5: 110,843,163 (GRCm39) |
|
probably benign |
Het |
Eya1 |
T |
C |
1: 14,254,725 (GRCm39) |
N369S |
possibly damaging |
Het |
Fam220a |
T |
C |
5: 143,549,326 (GRCm39) |
V246A |
possibly damaging |
Het |
Fastkd5 |
A |
T |
2: 130,457,481 (GRCm39) |
F370I |
probably damaging |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gpr75 |
A |
C |
11: 30,841,977 (GRCm39) |
Q294P |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,237,888 (GRCm39) |
F204L |
probably damaging |
Het |
Lrrc8c |
A |
C |
5: 105,756,114 (GRCm39) |
I630L |
probably benign |
Het |
Nlrc4 |
T |
C |
17: 74,753,162 (GRCm39) |
D407G |
possibly damaging |
Het |
Or4f61 |
G |
A |
2: 111,922,588 (GRCm39) |
L153F |
probably benign |
Het |
Or8k22 |
T |
A |
2: 86,163,323 (GRCm39) |
I126F |
probably damaging |
Het |
Pank1 |
A |
C |
19: 34,791,086 (GRCm39) |
|
probably benign |
Het |
Pde3b |
A |
G |
7: 114,126,201 (GRCm39) |
T812A |
probably damaging |
Het |
Phtf2 |
T |
G |
5: 21,010,797 (GRCm39) |
K63Q |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,437,010 (GRCm39) |
H3456L |
probably damaging |
Het |
Plcd1 |
A |
G |
9: 118,903,855 (GRCm39) |
|
probably benign |
Het |
Ppip5k2 |
C |
T |
1: 97,661,697 (GRCm39) |
V734I |
possibly damaging |
Het |
Ppp2r2d |
A |
G |
7: 138,470,166 (GRCm39) |
N38S |
probably damaging |
Het |
Sidt1 |
T |
C |
16: 44,075,348 (GRCm39) |
D670G |
possibly damaging |
Het |
Slc12a2 |
T |
A |
18: 58,045,092 (GRCm39) |
|
probably benign |
Het |
Tekt5 |
A |
T |
16: 10,196,906 (GRCm39) |
I315N |
probably benign |
Het |
Trappc11 |
A |
C |
8: 47,958,766 (GRCm39) |
C42G |
probably damaging |
Het |
Trerf1 |
C |
T |
17: 47,626,331 (GRCm39) |
|
noncoding transcript |
Het |
Ubqlnl |
C |
A |
7: 103,798,754 (GRCm39) |
E248* |
probably null |
Het |
Ulk4 |
G |
T |
9: 120,910,766 (GRCm39) |
T1086K |
probably benign |
Het |
Unc45a |
A |
T |
7: 79,978,234 (GRCm39) |
D680E |
probably damaging |
Het |
Vmn2r107 |
T |
C |
17: 20,577,039 (GRCm39) |
Y346H |
probably damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,525,007 (GRCm39) |
I47T |
possibly damaging |
Het |
Zbtb9 |
T |
C |
17: 27,193,129 (GRCm39) |
V178A |
probably benign |
Het |
Zc3hav1 |
A |
T |
6: 38,309,103 (GRCm39) |
M573K |
probably benign |
Het |
Zfp608 |
T |
C |
18: 55,030,653 (GRCm39) |
T1096A |
probably benign |
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 |
|
IGL02481:Rnpepl1
|
APN |
1 |
92,843,629 (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 |