Incidental Mutation 'R0579:Pop1'
ID |
56368 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pop1
|
Ensembl Gene |
ENSMUSG00000022325 |
Gene Name |
processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) |
Synonyms |
4932434G09Rik |
MMRRC Submission |
038769-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R0579 (G1)
|
Quality Score |
203 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
34495457-34530799 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34510115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 406
(D406E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078037
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052290]
[ENSMUST00000079028]
|
AlphaFold |
Q8K205 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052290
AA Change: D406E
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000052654 Gene: ENSMUSG00000022325 AA Change: D406E
Domain | Start | End | E-Value | Type |
Pfam:POP1
|
107 |
190 |
6.2e-21 |
PFAM |
Pfam:POP1
|
179 |
257 |
2.5e-23 |
PFAM |
low complexity region
|
382 |
387 |
N/A |
INTRINSIC |
Pfam:POPLD
|
647 |
738 |
1.4e-30 |
PFAM |
low complexity region
|
931 |
940 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079028
AA Change: D406E
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000078037 Gene: ENSMUSG00000022325 AA Change: D406E
Domain | Start | End | E-Value | Type |
Pfam:POP1
|
107 |
258 |
1e-46 |
PFAM |
low complexity region
|
382 |
387 |
N/A |
INTRINSIC |
Pfam:POPLD
|
617 |
708 |
1.2e-34 |
PFAM |
low complexity region
|
901 |
910 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126223
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155073
|
Meta Mutation Damage Score |
0.0820 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.7%
|
Validation Efficiency |
89% (34/38) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
Abcf3 |
G |
A |
16: 20,369,398 (GRCm39) |
R260Q |
probably benign |
Het |
Abcg3 |
A |
G |
5: 105,121,969 (GRCm39) |
V136A |
probably damaging |
Het |
Acr |
C |
G |
15: 89,453,678 (GRCm39) |
H72Q |
probably damaging |
Het |
Ambra1 |
A |
G |
2: 91,654,810 (GRCm39) |
N783S |
possibly damaging |
Het |
Cd300ld2 |
A |
G |
11: 114,903,125 (GRCm39) |
F240S |
probably benign |
Het |
Cep83 |
A |
G |
10: 94,584,915 (GRCm39) |
D340G |
possibly damaging |
Het |
Crybg2 |
T |
A |
4: 133,800,049 (GRCm39) |
I403N |
probably damaging |
Het |
Dnah14 |
T |
A |
1: 181,572,312 (GRCm39) |
M2881K |
possibly damaging |
Het |
Erbb4 |
T |
C |
1: 68,081,621 (GRCm39) |
M1138V |
probably benign |
Het |
Evi5 |
A |
G |
5: 107,969,575 (GRCm39) |
V112A |
probably benign |
Het |
F2r |
A |
G |
13: 95,754,857 (GRCm39) |
V9A |
probably benign |
Het |
Flot1 |
C |
A |
17: 36,141,900 (GRCm39) |
S337R |
probably benign |
Het |
Glt28d2 |
G |
A |
3: 85,779,440 (GRCm39) |
T11I |
probably damaging |
Het |
Gm19345 |
A |
G |
7: 19,588,901 (GRCm39) |
|
probably benign |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Hmgcs2 |
A |
T |
3: 98,198,264 (GRCm39) |
I56F |
probably damaging |
Het |
Ifna9 |
T |
A |
4: 88,510,508 (GRCm39) |
T39S |
possibly damaging |
Het |
Il21 |
T |
G |
3: 37,281,923 (GRCm39) |
K74Q |
possibly damaging |
Het |
Itpripl1 |
G |
T |
2: 126,983,011 (GRCm39) |
Y370* |
probably null |
Het |
Kif24 |
G |
A |
4: 41,393,706 (GRCm39) |
P1056S |
probably damaging |
Het |
L2hgdh |
A |
T |
12: 69,748,046 (GRCm39) |
|
probably benign |
Het |
Lipo2 |
A |
T |
19: 33,724,298 (GRCm39) |
L156Q |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,063,844 (GRCm39) |
M84K |
probably benign |
Het |
Npy4r |
G |
A |
14: 33,868,640 (GRCm39) |
T216I |
probably benign |
Het |
Or12d17 |
T |
C |
17: 37,777,238 (GRCm39) |
V47A |
probably benign |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Or6c1 |
A |
T |
10: 129,518,106 (GRCm39) |
C167* |
probably null |
Het |
Pafah1b2 |
T |
C |
9: 45,880,011 (GRCm39) |
E222G |
probably benign |
Het |
Proser1 |
A |
G |
3: 53,374,572 (GRCm39) |
Y32C |
probably damaging |
Het |
Ptprj |
C |
A |
2: 90,266,913 (GRCm39) |
|
probably null |
Het |
Slc1a3 |
T |
A |
15: 8,717,793 (GRCm39) |
I100F |
probably damaging |
Het |
Slc25a22 |
T |
C |
7: 141,011,272 (GRCm39) |
D176G |
probably damaging |
Het |
Stard7 |
T |
C |
2: 127,126,473 (GRCm39) |
V99A |
probably damaging |
Het |
Stk33 |
C |
T |
7: 108,924,904 (GRCm39) |
V184I |
probably damaging |
Het |
Timmdc1 |
A |
G |
16: 38,342,745 (GRCm39) |
L51P |
probably benign |
Het |
Tppp |
T |
C |
13: 74,169,352 (GRCm39) |
S31P |
probably benign |
Het |
Upf2 |
A |
T |
2: 5,993,240 (GRCm39) |
R599W |
unknown |
Het |
Vav1 |
G |
T |
17: 57,586,271 (GRCm39) |
W25L |
probably benign |
Het |
|
Other mutations in Pop1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00848:Pop1
|
APN |
15 |
34,508,875 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02192:Pop1
|
APN |
15 |
34,529,217 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02680:Pop1
|
APN |
15 |
34,502,619 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02958:Pop1
|
APN |
15 |
34,530,509 (GRCm39) |
missense |
probably damaging |
0.99 |
H8562:Pop1
|
UTSW |
15 |
34,530,358 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4802001:Pop1
|
UTSW |
15 |
34,529,229 (GRCm39) |
missense |
probably benign |
0.00 |
R0244:Pop1
|
UTSW |
15 |
34,516,037 (GRCm39) |
nonsense |
probably null |
|
R0281:Pop1
|
UTSW |
15 |
34,530,004 (GRCm39) |
splice site |
probably null |
|
R0453:Pop1
|
UTSW |
15 |
34,526,352 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1054:Pop1
|
UTSW |
15 |
34,509,955 (GRCm39) |
missense |
probably benign |
0.30 |
R1501:Pop1
|
UTSW |
15 |
34,510,503 (GRCm39) |
missense |
probably benign |
0.01 |
R1614:Pop1
|
UTSW |
15 |
34,530,356 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1994:Pop1
|
UTSW |
15 |
34,530,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R2084:Pop1
|
UTSW |
15 |
34,508,744 (GRCm39) |
splice site |
probably benign |
|
R4020:Pop1
|
UTSW |
15 |
34,508,926 (GRCm39) |
missense |
probably benign |
0.01 |
R4550:Pop1
|
UTSW |
15 |
34,529,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R4579:Pop1
|
UTSW |
15 |
34,515,970 (GRCm39) |
intron |
probably benign |
|
R5672:Pop1
|
UTSW |
15 |
34,530,325 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6139:Pop1
|
UTSW |
15 |
34,529,204 (GRCm39) |
missense |
probably benign |
0.26 |
R6161:Pop1
|
UTSW |
15 |
34,526,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R6821:Pop1
|
UTSW |
15 |
34,508,785 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7053:Pop1
|
UTSW |
15 |
34,530,421 (GRCm39) |
missense |
probably benign |
0.01 |
R7195:Pop1
|
UTSW |
15 |
34,510,525 (GRCm39) |
missense |
probably damaging |
0.97 |
R7543:Pop1
|
UTSW |
15 |
34,530,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R7571:Pop1
|
UTSW |
15 |
34,529,093 (GRCm39) |
missense |
probably null |
1.00 |
R7587:Pop1
|
UTSW |
15 |
34,502,559 (GRCm39) |
missense |
probably damaging |
0.97 |
R8401:Pop1
|
UTSW |
15 |
34,508,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R8406:Pop1
|
UTSW |
15 |
34,529,316 (GRCm39) |
missense |
probably benign |
|
R8707:Pop1
|
UTSW |
15 |
34,529,349 (GRCm39) |
missense |
probably benign |
0.02 |
R9044:Pop1
|
UTSW |
15 |
34,530,554 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9066:Pop1
|
UTSW |
15 |
34,516,060 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9236:Pop1
|
UTSW |
15 |
34,499,558 (GRCm39) |
missense |
probably damaging |
0.98 |
R9600:Pop1
|
UTSW |
15 |
34,512,881 (GRCm39) |
missense |
probably benign |
0.06 |
R9711:Pop1
|
UTSW |
15 |
34,530,227 (GRCm39) |
missense |
probably benign |
|
RF001:Pop1
|
UTSW |
15 |
34,502,583 (GRCm39) |
missense |
probably damaging |
1.00 |
RF002:Pop1
|
UTSW |
15 |
34,502,583 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Pop1
|
UTSW |
15 |
34,499,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCCACTGTTCAGAACCCGTC -3'
(R):5'- GCCGGAACCTGTTCATCTCCATTG -3'
Sequencing Primer
(F):5'- TGTTCAGAACCCGTCAAGTC -3'
(R):5'- tggcacacagcacaagg -3'
|
Posted On |
2013-07-11 |