Incidental Mutation 'IGL01072:Rpp40'
| ID |
52534 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rpp40
|
| Ensembl Gene |
ENSMUSG00000021418 |
| Gene Name |
ribonuclease P 40 subunit |
| Synonyms |
Rnasep1, D8Bwg1265e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
IGL01072
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
36077455-36090342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 36086017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 115
(G115C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171686]
[ENSMUST00000174230]
|
| AlphaFold |
Q8R1F9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171686
AA Change: G138C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130290
Gene: ENSMUSG00000021418
AA Change: G138C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribonuc_P_40
|
75 |
346 |
1.9e-97 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174230
AA Change: G115C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134228
Gene: ENSMUSG00000021418
AA Change: G115C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribonuc_P_40
|
85 |
324 |
1.7e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174231
|
| SMART Domains |
Protein: ENSMUSP00000134210
Gene: ENSMUSG00000021418
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribonuc_P_40
|
19 |
67 |
1.5e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174852
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225277
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc65 |
A |
T |
15: 98,606,277 (GRCm39) |
M1L |
unknown |
Het |
| Cyp3a44 |
T |
C |
5: 145,728,438 (GRCm39) |
D262G |
probably benign |
Het |
| Dmbt1 |
C |
T |
7: 130,687,098 (GRCm39) |
|
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,888,605 (GRCm39) |
N169S |
probably benign |
Het |
| Fbxw26 |
A |
T |
9: 109,552,905 (GRCm39) |
F290I |
probably damaging |
Het |
| Foxj3 |
A |
G |
4: 119,467,226 (GRCm39) |
M190V |
probably benign |
Het |
| Gm7275 |
T |
C |
16: 47,894,519 (GRCm39) |
|
noncoding transcript |
Het |
| Ly75 |
T |
A |
2: 60,184,840 (GRCm39) |
D438V |
probably damaging |
Het |
| Lzts3 |
T |
C |
2: 130,477,365 (GRCm39) |
E475G |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,846,444 (GRCm39) |
Y1375* |
probably null |
Het |
| Ndufc2 |
T |
A |
7: 97,049,490 (GRCm39) |
V32D |
probably damaging |
Het |
| Nf2 |
A |
C |
11: 4,739,713 (GRCm39) |
L431R |
probably null |
Het |
| Niban2 |
T |
C |
2: 32,802,427 (GRCm39) |
|
probably benign |
Het |
| Ptpn9 |
C |
T |
9: 56,943,987 (GRCm39) |
T287I |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,819,043 (GRCm39) |
D1422G |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,157 (GRCm39) |
V522A |
probably benign |
Het |
| Scgb1b24 |
A |
T |
7: 33,443,434 (GRCm39) |
D31V |
probably damaging |
Het |
| Trrap |
C |
A |
5: 144,721,065 (GRCm39) |
|
probably benign |
Het |
| Vmn1r214 |
T |
C |
13: 23,219,300 (GRCm39) |
Y265H |
possibly damaging |
Het |
|
| Other mutations in Rpp40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01550:Rpp40
|
APN |
13 |
36,090,183 (GRCm39) |
splice site |
probably null |
|
|
IGL03028:Rpp40
|
APN |
13 |
36,088,494 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0006:Rpp40
|
UTSW |
13 |
36,080,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Rpp40
|
UTSW |
13 |
36,082,970 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0098:Rpp40
|
UTSW |
13 |
36,082,970 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0144:Rpp40
|
UTSW |
13 |
36,085,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0799:Rpp40
|
UTSW |
13 |
36,086,034 (GRCm39) |
missense |
probably benign |
|
|
R1852:Rpp40
|
UTSW |
13 |
36,080,897 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2083:Rpp40
|
UTSW |
13 |
36,082,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2129:Rpp40
|
UTSW |
13 |
36,082,604 (GRCm39) |
nonsense |
probably null |
|
|
R4042:Rpp40
|
UTSW |
13 |
36,082,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4044:Rpp40
|
UTSW |
13 |
36,082,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4118:Rpp40
|
UTSW |
13 |
36,080,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Rpp40
|
UTSW |
13 |
36,082,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5181:Rpp40
|
UTSW |
13 |
36,080,695 (GRCm39) |
splice site |
probably null |
|
|
R7023:Rpp40
|
UTSW |
13 |
36,082,889 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7916:Rpp40
|
UTSW |
13 |
36,086,034 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9194:Rpp40
|
UTSW |
13 |
36,080,898 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1191:Rpp40
|
UTSW |
13 |
36,080,739 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2013-06-21 |
Incidental Mutation