Incidental Mutation 'IGL01789:Rnpep'
| ID |
155161 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnpep
|
| Ensembl Gene |
ENSMUSG00000041926 |
| Gene Name |
arginyl aminopeptidase (aminopeptidase B) |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.278)
|
| Stock # |
IGL01789
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
135190450-135211822 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135195833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 359
(K359E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074357]
[ENSMUST00000077340]
|
| AlphaFold |
Q8VCT3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074357
AA Change: K359E
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073962
Gene: ENSMUSG00000041926
AA Change: K359E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
31 |
246 |
2.5e-33 |
PFAM |
|
Pfam:Peptidase_M1
|
243 |
378 |
3.1e-36 |
PFAM |
|
Pfam:Peptidase_MA_2
|
257 |
402 |
4.5e-21 |
PFAM |
|
Leuk-A4-hydro_C
|
461 |
606 |
1.4e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077340
AA Change: K398E
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000076564
Gene: ENSMUSG00000041926
AA Change: K398E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
31 |
417 |
2.2e-84 |
PFAM |
|
Leuk-A4-hydro_C
|
500 |
645 |
1.4e-55 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180981
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188053
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
C |
T |
5: 90,673,443 (GRCm39) |
P232S |
probably benign |
Het |
| Atp11b |
A |
T |
3: 35,843,741 (GRCm39) |
Q81L |
possibly damaging |
Het |
| Cgn |
G |
A |
3: 94,683,528 (GRCm39) |
P413S |
possibly damaging |
Het |
| Eps8 |
C |
T |
6: 137,516,364 (GRCm39) |
M5I |
probably benign |
Het |
| Fam83h |
A |
T |
15: 75,877,969 (GRCm39) |
M143K |
probably damaging |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,566,352 (GRCm39) |
C2217Y |
probably damaging |
Het |
| Leo1 |
T |
C |
9: 75,361,896 (GRCm39) |
|
probably benign |
Het |
| Lipm |
A |
G |
19: 34,096,147 (GRCm39) |
D321G |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,835,483 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,999,372 (GRCm39) |
Y257C |
probably benign |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Tas2r130 |
T |
A |
6: 131,607,118 (GRCm39) |
S226C |
probably damaging |
Het |
| Tpbg |
A |
T |
9: 85,726,954 (GRCm39) |
M308L |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,838,090 (GRCm39) |
S1715L |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,239,462 (GRCm39) |
N3508K |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,634,141 (GRCm39) |
|
probably null |
Het |
| Wdhd1 |
A |
T |
14: 47,512,274 (GRCm39) |
M39K |
probably benign |
Het |
|
| Other mutations in Rnpep |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0001:Rnpep
|
UTSW |
1 |
135,200,223 (GRCm39) |
splice site |
probably benign |
|
|
R0498:Rnpep
|
UTSW |
1 |
135,193,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Rnpep
|
UTSW |
1 |
135,200,157 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1728:Rnpep
|
UTSW |
1 |
135,211,715 (GRCm39) |
missense |
probably benign |
|
|
R1728:Rnpep
|
UTSW |
1 |
135,190,834 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1729:Rnpep
|
UTSW |
1 |
135,211,715 (GRCm39) |
missense |
probably benign |
|
|
R1729:Rnpep
|
UTSW |
1 |
135,190,834 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1730:Rnpep
|
UTSW |
1 |
135,190,834 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1739:Rnpep
|
UTSW |
1 |
135,211,367 (GRCm39) |
missense |
probably benign |
|
|
R1739:Rnpep
|
UTSW |
1 |
135,190,834 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1762:Rnpep
|
UTSW |
1 |
135,190,834 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1783:Rnpep
|
UTSW |
1 |
135,211,715 (GRCm39) |
missense |
probably benign |
|
|
R1783:Rnpep
|
UTSW |
1 |
135,190,834 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1784:Rnpep
|
UTSW |
1 |
135,190,834 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1785:Rnpep
|
UTSW |
1 |
135,211,715 (GRCm39) |
missense |
probably benign |
|
|
R1785:Rnpep
|
UTSW |
1 |
135,190,834 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2101:Rnpep
|
UTSW |
1 |
135,199,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4933:Rnpep
|
UTSW |
1 |
135,194,764 (GRCm39) |
intron |
probably benign |
|
|
R4993:Rnpep
|
UTSW |
1 |
135,190,770 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5642:Rnpep
|
UTSW |
1 |
135,205,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6965:Rnpep
|
UTSW |
1 |
135,190,858 (GRCm39) |
nonsense |
probably null |
|
|
R7143:Rnpep
|
UTSW |
1 |
135,211,487 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7508:Rnpep
|
UTSW |
1 |
135,206,596 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8060:Rnpep
|
UTSW |
1 |
135,194,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Rnpep
|
UTSW |
1 |
135,211,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Rnpep
|
UTSW |
1 |
135,200,172 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8300:Rnpep
|
UTSW |
1 |
135,211,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8355:Rnpep
|
UTSW |
1 |
135,195,005 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9098:Rnpep
|
UTSW |
1 |
135,206,559 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9333:Rnpep
|
UTSW |
1 |
135,191,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9474:Rnpep
|
UTSW |
1 |
135,211,341 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Rnpep
|
UTSW |
1 |
135,211,574 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1176:Rnpep
|
UTSW |
1 |
135,199,493 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Posted On |
2014-02-04 |
Incidental Mutation