Incidental Mutation 'R1601:Rnpepl1'
ID |
176121 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnpepl1
|
Ensembl Gene |
ENSMUSG00000026269 |
Gene Name |
arginyl aminopeptidase (aminopeptidase B)-like 1 |
Synonyms |
1110014H17Rik |
MMRRC Submission |
039638-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1601 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
92837697-92848307 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 92844944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 412
(D412V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027487]
[ENSMUST00000178116]
|
AlphaFold |
G5E872 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027487
AA Change: D412V
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027487 Gene: ENSMUSG00000026269 AA Change: D412V
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: D77V
|
Predicted Effect |
unknown
Transcript: ENSMUST00000179837
AA Change: D25V
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180306
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179854
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179993
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179531
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032F04Rik |
G |
A |
3: 68,777,546 (GRCm39) |
S169N |
probably benign |
Het |
Adgra2 |
T |
C |
8: 27,600,046 (GRCm39) |
|
probably null |
Het |
Adgrb2 |
T |
C |
4: 129,886,630 (GRCm39) |
S257P |
probably benign |
Het |
Adgre1 |
A |
G |
17: 57,748,353 (GRCm39) |
K518E |
probably benign |
Het |
Anxa7 |
A |
T |
14: 20,514,683 (GRCm39) |
Y64* |
probably null |
Het |
Arhgef7 |
A |
G |
8: 11,832,638 (GRCm39) |
|
probably null |
Het |
Cdc42bpa |
T |
A |
1: 179,892,566 (GRCm39) |
Y243* |
probably null |
Het |
Cdk14 |
C |
T |
5: 5,185,378 (GRCm39) |
V176M |
probably damaging |
Het |
Cnbd2 |
A |
G |
2: 156,175,551 (GRCm39) |
E54G |
probably damaging |
Het |
Crx |
T |
C |
7: 15,601,736 (GRCm39) |
|
probably null |
Het |
Cyp24a1 |
A |
G |
2: 170,327,611 (GRCm39) |
F511L |
possibly damaging |
Het |
Ddx11 |
A |
G |
17: 66,457,380 (GRCm39) |
M810V |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,527,519 (GRCm39) |
T1077A |
probably benign |
Het |
Dop1a |
G |
A |
9: 86,418,303 (GRCm39) |
D2011N |
probably damaging |
Het |
Ehhadh |
T |
A |
16: 21,585,158 (GRCm39) |
H241L |
probably benign |
Het |
Elp1 |
T |
A |
4: 56,774,756 (GRCm39) |
K740* |
probably null |
Het |
Enah |
A |
T |
1: 181,747,185 (GRCm39) |
L523* |
probably null |
Het |
Fabp3 |
T |
C |
4: 130,202,641 (GRCm39) |
L24P |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,172,836 (GRCm39) |
S2626P |
probably benign |
Het |
Fbxo4 |
A |
G |
15: 3,998,447 (GRCm39) |
M337T |
possibly damaging |
Het |
Gas6 |
G |
T |
8: 13,515,786 (GRCm39) |
T662N |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Hrh4 |
G |
A |
18: 13,148,955 (GRCm39) |
V106I |
possibly damaging |
Het |
Ido2 |
G |
T |
8: 25,066,205 (GRCm39) |
H20Q |
possibly damaging |
Het |
Itga10 |
G |
T |
3: 96,560,974 (GRCm39) |
R613L |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,708,452 (GRCm39) |
S836P |
probably benign |
Het |
Kcng3 |
A |
T |
17: 83,895,768 (GRCm39) |
C233S |
probably damaging |
Het |
Kdm3b |
A |
G |
18: 34,941,784 (GRCm39) |
Q625R |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,055,087 (GRCm39) |
S553G |
probably benign |
Het |
Krt82 |
A |
T |
15: 101,453,588 (GRCm39) |
I266N |
probably damaging |
Het |
Lama5 |
A |
T |
2: 179,839,538 (GRCm39) |
L736Q |
probably damaging |
Het |
Lnx2 |
A |
G |
5: 146,970,329 (GRCm39) |
C138R |
probably damaging |
Het |
Mcm5 |
T |
C |
8: 75,845,982 (GRCm39) |
C397R |
possibly damaging |
Het |
Me1 |
A |
C |
9: 86,560,065 (GRCm39) |
Y52D |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,575,875 (GRCm39) |
|
probably benign |
Het |
Myo18b |
G |
T |
5: 113,019,364 (GRCm39) |
Q638K |
possibly damaging |
Het |
Ncapd2 |
A |
G |
6: 125,162,735 (GRCm39) |
L170P |
probably damaging |
Het |
Neb |
A |
T |
2: 52,177,264 (GRCm39) |
L1359* |
probably null |
Het |
Nomo1 |
C |
A |
7: 45,696,379 (GRCm39) |
S299Y |
probably damaging |
Het |
Onecut1 |
A |
T |
9: 74,769,973 (GRCm39) |
H132L |
probably benign |
Het |
Or2b2 |
C |
A |
13: 21,887,396 (GRCm39) |
T75K |
probably damaging |
Het |
Or2w3 |
A |
T |
11: 58,556,903 (GRCm39) |
R173W |
probably damaging |
Het |
Or4e2 |
A |
C |
14: 52,687,899 (GRCm39) |
T10P |
probably benign |
Het |
Or7a41 |
A |
T |
10: 78,871,338 (GRCm39) |
Y236F |
possibly damaging |
Het |
Paqr3 |
A |
G |
5: 97,259,248 (GRCm39) |
Y19H |
probably benign |
Het |
Prdx5 |
T |
C |
19: 6,884,926 (GRCm39) |
H140R |
possibly damaging |
Het |
Prox1 |
T |
C |
1: 189,893,203 (GRCm39) |
D414G |
probably damaging |
Het |
Ptprh |
T |
G |
7: 4,555,637 (GRCm39) |
E774A |
probably damaging |
Het |
Sars2 |
C |
T |
7: 28,448,396 (GRCm39) |
T259M |
probably benign |
Het |
Sbf2 |
T |
C |
7: 109,939,283 (GRCm39) |
|
probably null |
Het |
Sbno2 |
C |
T |
10: 79,896,326 (GRCm39) |
R898H |
probably damaging |
Het |
Smox |
C |
A |
2: 131,362,094 (GRCm39) |
T172N |
probably damaging |
Het |
Taf7l2 |
T |
C |
10: 115,949,521 (GRCm39) |
S2G |
probably damaging |
Het |
Tdrd9 |
C |
T |
12: 111,989,687 (GRCm39) |
R341* |
probably null |
Het |
Thrap3 |
C |
G |
4: 126,073,894 (GRCm39) |
G284A |
probably damaging |
Het |
Tmtc4 |
A |
G |
14: 123,182,238 (GRCm39) |
V271A |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,202,545 (GRCm39) |
T1637A |
probably damaging |
Het |
Tspan5 |
T |
A |
3: 138,602,596 (GRCm39) |
I166N |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,642,582 (GRCm39) |
V1398A |
probably benign |
Het |
Xbp1 |
C |
T |
11: 5,471,975 (GRCm39) |
R34W |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGGCACCAATTGCAAGGGGCAC -3'
(R):5'- TGGAAACCAGTTCTCAGACCCTGTG -3'
Sequencing Primer
(F):5'- CTAGCCTCCAGCTTGACAG -3'
(R):5'- GCACCCGAGAGGTTTTCC -3'
|
Posted On |
2014-04-24 |