Incidental Mutation 'IGL00478:Rpp14'
| ID |
332184 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rpp14
|
| Ensembl Gene |
ENSMUSG00000023156 |
| Gene Name |
ribonuclease P 14 subunit |
| Synonyms |
2610511E03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
IGL00478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
14377939-14389406 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8083934 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 30
(G30E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023924]
|
| AlphaFold |
Q9CQH8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023924
AA Change: G30E
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023924
Gene: ENSMUSG00000023156
AA Change: G30E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_P_Rpp14
|
8 |
109 |
1.8e-11 |
PFAM |
|
| 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 |
|---|
| Aars1 |
A |
G |
8: 111,774,604 (GRCm39) |
T578A |
possibly damaging |
Het |
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,096,639 (GRCm39) |
V2505M |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,440,297 (GRCm39) |
C365* |
probably null |
Het |
| C920021L13Rik |
A |
T |
3: 95,794,797 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,247,888 (GRCm39) |
V905E |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,050,613 (GRCm39) |
V1529A |
probably damaging |
Het |
| Coro2a |
T |
C |
4: 46,540,455 (GRCm39) |
D488G |
probably benign |
Het |
| Dpf1 |
G |
T |
7: 29,015,981 (GRCm39) |
|
probably benign |
Het |
| Fga |
T |
A |
3: 82,935,951 (GRCm39) |
D59E |
probably benign |
Het |
| Ggh |
T |
A |
4: 20,057,965 (GRCm39) |
H175Q |
probably benign |
Het |
| Glyat |
T |
C |
19: 12,625,497 (GRCm39) |
|
probably benign |
Het |
| Gpr137c |
T |
C |
14: 45,516,202 (GRCm39) |
V312A |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,442,908 (GRCm39) |
S466P |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,141,213 (GRCm39) |
D1078V |
probably damaging |
Het |
| Rad17 |
T |
C |
13: 100,769,782 (GRCm39) |
D259G |
probably damaging |
Het |
| Uspl1 |
A |
T |
5: 149,152,024 (GRCm39) |
T1075S |
possibly damaging |
Het |
| Vash1 |
T |
A |
12: 86,727,042 (GRCm39) |
I94N |
possibly damaging |
Het |
| Zfp770 |
T |
C |
2: 114,027,946 (GRCm39) |
E41G |
probably damaging |
Het |
|
| Other mutations in Rpp14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Rpp14
|
APN |
14 |
8,083,934 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL00424:Rpp14
|
APN |
14 |
8,083,934 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL00538:Rpp14
|
APN |
14 |
8,083,934 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1167:Rpp14
|
UTSW |
14 |
8,083,705 (GRCm38) |
splice site |
probably null |
|
|
R1499:Rpp14
|
UTSW |
14 |
8,090,528 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1874:Rpp14
|
UTSW |
14 |
8,090,145 (GRCm38) |
missense |
probably benign |
|
|
R4778:Rpp14
|
UTSW |
14 |
8,090,203 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5222:Rpp14
|
UTSW |
14 |
8,087,513 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5561:Rpp14
|
UTSW |
14 |
8,090,558 (GRCm38) |
splice site |
probably null |
|
|
R6015:Rpp14
|
UTSW |
14 |
8,090,462 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6801:Rpp14
|
UTSW |
14 |
8,083,717 (GRCm38) |
start gained |
probably benign |
|
|
R7643:Rpp14
|
UTSW |
14 |
8,090,325 (GRCm38) |
nonsense |
probably null |
|
|
R7685:Rpp14
|
UTSW |
14 |
8,090,453 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7872:Rpp14
|
UTSW |
14 |
8,083,724 (GRCm38) |
start codon destroyed |
probably null |
0.00 |
|
R8259:Rpp14
|
UTSW |
14 |
8,090,526 (GRCm38) |
missense |
probably null |
0.94 |
|
R8491:Rpp14
|
UTSW |
14 |
8,083,925 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R8973:Rpp14
|
UTSW |
14 |
8,088,768 (GRCm38) |
missense |
probably benign |
|
|
R9035:Rpp14
|
UTSW |
14 |
8,083,772 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
Z1088:Rpp14
|
UTSW |
14 |
8,090,539 (GRCm38) |
missense |
probably benign |
|
|
| Posted On |
2015-08-05 |
Incidental Mutation