Incidental Mutation 'R3105:Rnpepl1'
| ID |
262992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnpepl1
|
| Ensembl Gene |
ENSMUSG00000026269 |
| Gene Name |
arginyl aminopeptidase (aminopeptidase B)-like 1 |
| Synonyms |
1110014H17Rik |
| MMRRC Submission |
040579-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3105 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
92837697-92848307 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 92844102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 278
(L278F)
|
| 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: L278F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027487
Gene: ENSMUSG00000026269
AA Change: L278F
| 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 |
noncoding transcript
Transcript: ENSMUST00000179854
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180306
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179837
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179993
|
| Meta Mutation Damage Score |
0.1370 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
T |
C |
1: 75,151,687 (GRCm39) |
|
probably benign |
Het |
| Abhd13 |
T |
C |
8: 10,037,931 (GRCm39) |
V176A |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,483,281 (GRCm39) |
S242R |
possibly damaging |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Ccdc163 |
C |
A |
4: 116,566,697 (GRCm39) |
Q58K |
probably benign |
Het |
| Ccdc191 |
T |
C |
16: 43,751,573 (GRCm39) |
F301S |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,622,432 (GRCm39) |
N544K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,744,024 (GRCm39) |
R515G |
probably damaging |
Het |
| Dgkg |
T |
A |
16: 22,394,091 (GRCm39) |
T321S |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,040,018 (GRCm39) |
C138* |
probably null |
Het |
| Dnaja2 |
G |
A |
8: 86,281,857 (GRCm39) |
T7M |
probably damaging |
Het |
| Ezh1 |
A |
C |
11: 101,086,468 (GRCm39) |
C575W |
probably damaging |
Het |
| F11 |
T |
A |
8: 45,698,754 (GRCm39) |
Q463H |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,034,628 (GRCm39) |
D142G |
probably benign |
Het |
| Gm8730 |
T |
C |
8: 103,591,895 (GRCm39) |
|
noncoding transcript |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| Hnf4g |
T |
G |
3: 3,717,916 (GRCm39) |
S388R |
probably benign |
Het |
| Il1rap |
A |
G |
16: 26,541,502 (GRCm39) |
E581G |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,331,394 (GRCm39) |
Y1585H |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,958,636 (GRCm39) |
V483A |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,472,756 (GRCm39) |
|
probably null |
Het |
| Or4a78 |
T |
C |
2: 89,497,302 (GRCm39) |
I309M |
probably benign |
Het |
| Osgep |
T |
C |
14: 51,154,286 (GRCm39) |
T225A |
probably benign |
Het |
| Otof |
A |
G |
5: 30,539,145 (GRCm39) |
Y1090H |
probably benign |
Het |
| Pgr |
T |
A |
9: 8,958,397 (GRCm39) |
F801L |
probably benign |
Het |
| Pomk |
A |
C |
8: 26,472,942 (GRCm39) |
L337R |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,096,520 (GRCm39) |
S675T |
probably damaging |
Het |
| Sars1 |
C |
T |
3: 108,336,621 (GRCm39) |
R302H |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,962,806 (GRCm39) |
E24G |
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,328,433 (GRCm39) |
P1194L |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,539,753 (GRCm39) |
C847Y |
probably damaging |
Het |
| Slc22a29 |
T |
C |
19: 8,147,337 (GRCm39) |
T342A |
probably benign |
Het |
| Spaca1 |
G |
A |
4: 34,028,468 (GRCm39) |
T283M |
probably damaging |
Het |
| Stradb |
C |
A |
1: 59,031,450 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Taf6l |
C |
T |
19: 8,756,219 (GRCm39) |
S208N |
probably damaging |
Het |
| Tkfc |
G |
T |
19: 10,574,357 (GRCm39) |
C198* |
probably null |
Het |
| Tm4sf4 |
C |
T |
3: 57,345,043 (GRCm39) |
R150C |
possibly damaging |
Het |
| Tmem212 |
T |
C |
3: 27,939,019 (GRCm39) |
S156G |
probably damaging |
Het |
| Tmigd1 |
A |
G |
11: 76,801,124 (GRCm39) |
T204A |
possibly damaging |
Het |
| Tsga10 |
G |
A |
1: 37,840,872 (GRCm39) |
L445F |
probably damaging |
Het |
| Urb1 |
C |
T |
16: 90,592,331 (GRCm39) |
V310I |
probably damaging |
Het |
| Vmn1r205 |
T |
C |
13: 22,777,109 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTTGGGTTCCTTAAGTAGTTC -3'
(R):5'- TATGCTTCACCTGGGATGGC -3'
Sequencing Primer
(F):5'- CCCCTACCTGTTGTGTGAAGGAG -3'
(R):5'- GAAGTCCCAATCTAGCCCTATGTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation