Incidental Mutation 'ANU05:Rnpepl1'
ID |
262464 |
Institutional Source |
Beutler Lab
|
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 # |
ANU05
|
Quality Score |
153 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
92837697-92848307 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 92847468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 685
(D685V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027487]
[ENSMUST00000178116]
|
AlphaFold |
G5E872 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027487
AA Change: D685V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027487 Gene: ENSMUSG00000026269 AA Change: D685V
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: D339V
|
Predicted Effect |
unknown
Transcript: ENSMUST00000179531
AA Change: D44V
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179854
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179837
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179993
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Acaca |
A |
G |
11: 84,206,678 (GRCm39) |
K1513E |
probably damaging |
Het |
Acacb |
T |
A |
5: 114,363,931 (GRCm39) |
F1464Y |
probably benign |
Het |
Adgrg6 |
G |
A |
10: 14,286,274 (GRCm39) |
A1114V |
possibly damaging |
Het |
Agl |
A |
G |
3: 116,566,438 (GRCm39) |
I975T |
possibly damaging |
Het |
Akap7 |
T |
C |
10: 25,147,451 (GRCm39) |
H93R |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,640,481 (GRCm39) |
W1213R |
probably benign |
Het |
Ccar1 |
T |
A |
10: 62,592,428 (GRCm39) |
E708V |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cilp |
T |
C |
9: 65,186,265 (GRCm39) |
S787P |
possibly damaging |
Het |
Col6a3 |
G |
A |
1: 90,730,014 (GRCm39) |
T1157I |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,038,308 (GRCm39) |
Y1046C |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,772,862 (GRCm39) |
S464P |
probably benign |
Het |
Dusp19 |
A |
G |
2: 80,454,618 (GRCm39) |
T113A |
probably benign |
Het |
Dync1h1 |
A |
C |
12: 110,615,538 (GRCm39) |
Y2957S |
probably benign |
Het |
Epdr1 |
T |
C |
13: 19,778,814 (GRCm39) |
Y94C |
probably damaging |
Het |
Fcho1 |
A |
T |
8: 72,165,191 (GRCm39) |
L422Q |
probably benign |
Het |
Gca |
T |
A |
2: 62,520,787 (GRCm39) |
Y210* |
probably null |
Het |
Gpnmb |
T |
C |
6: 49,032,615 (GRCm39) |
V513A |
probably benign |
Het |
Irx4 |
A |
G |
13: 73,415,786 (GRCm39) |
T192A |
probably damaging |
Het |
Isca1 |
T |
C |
13: 59,906,785 (GRCm39) |
T54A |
probably benign |
Het |
Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
L3mbtl1 |
T |
C |
2: 162,812,100 (GRCm39) |
V715A |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,045,865 (GRCm39) |
D257N |
probably damaging |
Het |
Lgr5 |
T |
C |
10: 115,314,439 (GRCm39) |
H166R |
probably damaging |
Het |
M6pr |
A |
G |
6: 122,289,218 (GRCm39) |
R9G |
probably benign |
Het |
Nmt2 |
T |
G |
2: 3,315,731 (GRCm39) |
S240R |
probably benign |
Het |
Npas3 |
A |
G |
12: 54,114,857 (GRCm39) |
E593G |
possibly damaging |
Het |
Or8k30 |
G |
A |
2: 86,339,513 (GRCm39) |
A237T |
possibly damaging |
Het |
Pank4 |
T |
C |
4: 155,059,103 (GRCm39) |
M412T |
probably damaging |
Het |
Psd |
A |
G |
19: 46,303,186 (GRCm39) |
V100A |
possibly damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,235,087 (GRCm39) |
T28A |
probably damaging |
Het |
Rrad |
T |
C |
8: 105,357,283 (GRCm39) |
E88G |
probably benign |
Het |
Sdk2 |
T |
A |
11: 113,733,906 (GRCm39) |
M846L |
probably benign |
Het |
Sparcl1 |
A |
T |
5: 104,242,581 (GRCm39) |
V36E |
possibly damaging |
Het |
Spmip5 |
A |
T |
19: 58,777,545 (GRCm39) |
H80Q |
probably damaging |
Het |
Srrm4 |
C |
T |
5: 116,605,628 (GRCm39) |
E210K |
unknown |
Het |
Stk25 |
A |
T |
1: 93,551,145 (GRCm39) |
|
probably null |
Het |
Tacr3 |
A |
T |
3: 134,635,810 (GRCm39) |
Y338F |
probably damaging |
Het |
Tap2 |
A |
T |
17: 34,428,184 (GRCm39) |
Q286L |
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tubgcp5 |
C |
A |
7: 55,458,277 (GRCm39) |
A396E |
possibly damaging |
Het |
Ube2o |
T |
C |
11: 116,430,960 (GRCm39) |
D980G |
probably damaging |
Het |
Vmn1r86 |
T |
C |
7: 12,836,433 (GRCm39) |
M98V |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,513,935 (GRCm39) |
H236L |
probably benign |
Het |
Zfp521 |
T |
C |
18: 13,950,303 (GRCm39) |
H1217R |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,601,779 (GRCm39) |
F110I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCAAAGCCATCCTGAGCATCTG -3'
(R):5'- ACAAAAGGCACAATCGTGGTGTCTG -3'
Sequencing Primer
(F):5'- AGATGTCGCGCATGTACAC -3'
(R):5'- CAATCGTGGTGTCTGGGAGG -3'
|
Posted On |
2015-02-04 |