Incidental Mutation 'R9773:Rnpepl1'
| ID |
733508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnpepl1
|
| Ensembl Gene |
ENSMUSG00000026269 |
| Gene Name |
arginyl aminopeptidase (aminopeptidase B)-like 1 |
| Synonyms |
1110014H17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9773 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
92837697-92848307 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 92847559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 715
(D715E)
|
| 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: D715E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027487
Gene: ENSMUSG00000026269
AA Change: D715E
| 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 |
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179837
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179993
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,668,057 (GRCm39) |
Y483H |
possibly damaging |
Het |
| Abca17 |
A |
G |
17: 24,508,565 (GRCm39) |
L990P |
probably damaging |
Het |
| Ankrd65 |
A |
C |
4: 155,877,424 (GRCm39) |
T312P |
probably damaging |
Het |
| Atp23 |
G |
A |
10: 126,734,763 (GRCm39) |
T103M |
possibly damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,907,497 (GRCm39) |
S863R |
probably damaging |
Het |
| Cacna1c |
T |
A |
6: 118,647,371 (GRCm39) |
N992I |
|
Het |
| Cacnb2 |
A |
G |
2: 14,976,452 (GRCm39) |
E291G |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,200,462 (GRCm39) |
Q106R |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cngb1 |
G |
A |
8: 95,975,042 (GRCm39) |
H1144Y |
probably damaging |
Het |
| Cnot4 |
A |
T |
6: 35,056,920 (GRCm39) |
N50K |
probably damaging |
Het |
| Coasy |
T |
C |
11: 100,975,163 (GRCm39) |
L240P |
probably damaging |
Het |
| D7Ertd443e |
G |
A |
7: 133,959,803 (GRCm39) |
T12M |
probably benign |
Het |
| Exoc3l2 |
A |
G |
7: 19,203,697 (GRCm39) |
I96M |
|
Het |
| Fbn2 |
A |
G |
18: 58,143,481 (GRCm39) |
L2858P |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,977,128 (GRCm39) |
S194P |
possibly damaging |
Het |
| Fry |
T |
C |
5: 150,322,728 (GRCm39) |
L1040P |
probably damaging |
Het |
| Gimap8 |
C |
T |
6: 48,633,568 (GRCm39) |
P300S |
unknown |
Het |
| Gm10801 |
T |
G |
2: 98,494,345 (GRCm39) |
F141V |
probably benign |
Het |
| Gm21903 |
G |
A |
17: 39,353,541 (GRCm39) |
T25I |
unknown |
Het |
| Gucy2d |
T |
C |
7: 98,099,048 (GRCm39) |
V288A |
possibly damaging |
Het |
| Hs6st3 |
A |
T |
14: 120,106,948 (GRCm39) |
D452V |
probably benign |
Het |
| Igkv5-43 |
T |
A |
6: 69,752,858 (GRCm39) |
I75F |
probably damaging |
Het |
| Itgad |
G |
A |
7: 127,789,222 (GRCm39) |
R562H |
probably damaging |
Het |
| Kbtbd12 |
T |
A |
6: 88,524,744 (GRCm39) |
D613V |
probably damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,788,365 (GRCm39) |
T363A |
probably damaging |
Het |
| Kyat3 |
A |
G |
3: 142,431,820 (GRCm39) |
I213M |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,368,838 (GRCm39) |
H948Q |
probably benign |
Het |
| Marchf7 |
C |
T |
2: 60,064,785 (GRCm39) |
R354* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,137,263 (GRCm39) |
H495Y |
probably damaging |
Het |
| Or13a23-ps1 |
T |
C |
7: 140,118,649 (GRCm39) |
V73A |
probably benign |
Het |
| Or4d10b |
A |
T |
19: 12,036,939 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or6c69c |
T |
A |
10: 129,910,360 (GRCm39) |
I27N |
possibly damaging |
Het |
| Plcb2 |
T |
C |
2: 118,541,274 (GRCm39) |
E1021G |
probably damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,069,743 (GRCm39) |
P97S |
probably damaging |
Het |
| Pon1 |
T |
C |
6: 5,177,339 (GRCm39) |
Y190C |
possibly damaging |
Het |
| Pth1r |
C |
A |
9: 110,556,233 (GRCm39) |
R213S |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,199,806 (GRCm38) |
D848G |
probably damaging |
Het |
| Serpinb3b |
C |
A |
1: 107,085,416 (GRCm39) |
K108N |
possibly damaging |
Het |
| Slc1a1 |
C |
T |
19: 28,870,283 (GRCm39) |
A94V |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,321,754 (GRCm39) |
Y437N |
probably benign |
Het |
| Slc2a7 |
C |
T |
4: 150,234,044 (GRCm39) |
T53I |
possibly damaging |
Het |
| Spag1 |
A |
G |
15: 36,234,711 (GRCm39) |
T824A |
probably benign |
Het |
| Spmip7 |
G |
A |
11: 11,438,572 (GRCm39) |
V272M |
unknown |
Het |
| Synj2 |
T |
A |
17: 6,094,232 (GRCm39) |
Y1153N |
probably benign |
Het |
| Ttll2 |
A |
T |
17: 7,618,676 (GRCm39) |
I417K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Uevld |
A |
G |
7: 46,597,659 (GRCm39) |
|
probably null |
Het |
| Vmn2r38 |
A |
G |
7: 9,097,806 (GRCm39) |
S96P |
probably damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,386,949 (GRCm39) |
N96S |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,221 (GRCm39) |
I825N |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,818,619 (GRCm39) |
M3083L |
|
Het |
| Wdr35 |
A |
G |
12: 9,039,990 (GRCm39) |
N365S |
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 |
|
|
IGL02266:Rnpepl1
|
APN |
1 |
92,844,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCTACCAAACCCAGGGC -3'
(R):5'- CTGGTCCACGAGCATCAATG -3'
Sequencing Primer
(F):5'- GGCTGCATCCCAACTTGC -3'
(R):5'- TGGTCCACGAGCATCAATGAATAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation