Incidental Mutation 'IGL01550:Rpp40'
| ID |
90590 |
| 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 # |
IGL01550
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
36077455-36090342 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 36090183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171686]
[ENSMUST00000174230]
|
| AlphaFold |
Q8R1F9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000171686
|
| SMART Domains |
Protein: ENSMUSP00000130290
Gene: ENSMUSG00000021418
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribonuc_P_40
|
75 |
346 |
1.9e-97 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174230
|
| SMART Domains |
Protein: ENSMUSP00000134228
Gene: ENSMUSG00000021418
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribonuc_P_40
|
85 |
324 |
1.7e-83 |
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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
T |
G |
11: 3,887,974 (GRCm39) |
R137S |
unknown |
Het |
| Epha8 |
G |
T |
4: 136,659,051 (GRCm39) |
Q868K |
possibly damaging |
Het |
| Erc1 |
T |
A |
6: 119,760,355 (GRCm39) |
M386L |
probably damaging |
Het |
| Gfpt2 |
T |
A |
11: 49,715,150 (GRCm39) |
|
probably null |
Het |
| Gpr142 |
T |
A |
11: 114,695,152 (GRCm39) |
L39Q |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,474,148 (GRCm39) |
W4765R |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,314,264 (GRCm39) |
E3603V |
possibly damaging |
Het |
| Hsp90b1 |
C |
T |
10: 86,540,234 (GRCm39) |
D26N |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,486,274 (GRCm39) |
T4760A |
probably damaging |
Het |
| Lmo7 |
C |
A |
14: 102,163,576 (GRCm39) |
|
probably benign |
Het |
| Mup4 |
A |
T |
4: 59,960,120 (GRCm39) |
I48K |
probably damaging |
Het |
| Mylk3 |
T |
A |
8: 86,091,718 (GRCm39) |
D29V |
probably damaging |
Het |
| Myo1b |
A |
G |
1: 51,823,690 (GRCm39) |
F405S |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,712,669 (GRCm39) |
D2136G |
possibly damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,986 (GRCm39) |
Y254F |
probably damaging |
Het |
| Or52a20 |
T |
G |
7: 103,366,204 (GRCm39) |
H134Q |
probably damaging |
Het |
| Or5g27 |
T |
A |
2: 85,409,875 (GRCm39) |
C97* |
probably null |
Het |
| Or7e175 |
A |
T |
9: 20,048,750 (GRCm39) |
T113S |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Samd7 |
T |
A |
3: 30,819,399 (GRCm39) |
S383T |
probably damaging |
Het |
| Tbc1d10c |
T |
C |
19: 4,234,823 (GRCm39) |
T413A |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,535 (GRCm39) |
L905P |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,701,828 (GRCm39) |
K643R |
probably benign |
Het |
| Vmn2r124 |
T |
C |
17: 18,283,617 (GRCm39) |
|
probably null |
Het |
| Vwf |
A |
T |
6: 125,656,252 (GRCm39) |
I2606F |
probably benign |
Het |
| Wbp4 |
T |
C |
14: 79,703,774 (GRCm39) |
T258A |
probably benign |
Het |
| Zfp1005 |
T |
A |
2: 150,108,363 (GRCm39) |
|
probably benign |
Het |
| Zfp758 |
T |
C |
17: 22,594,021 (GRCm39) |
L137S |
probably damaging |
Het |
|
| Other mutations in Rpp40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01072:Rpp40
|
APN |
13 |
36,086,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-09 |
Incidental Mutation