Incidental Mutation 'R5672:Pop1'
ID |
442691 |
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 |
043174-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R5672 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
34495457-34530799 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34530325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 908
(K908E)
|
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: K938E
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000052654 Gene: ENSMUSG00000022325 AA Change: K938E
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: K908E
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000078037 Gene: ENSMUSG00000022325 AA Change: K908E
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: ENSMUST00000122658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153061
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226504
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
A |
G |
9: 99,502,383 (GRCm39) |
N181S |
possibly damaging |
Het |
Abcf3 |
A |
T |
16: 20,368,002 (GRCm39) |
Q74L |
probably benign |
Het |
Ankrd13c |
T |
C |
3: 157,666,664 (GRCm39) |
|
probably null |
Het |
Bub1 |
A |
G |
2: 127,646,800 (GRCm39) |
F827L |
possibly damaging |
Het |
Cfap68 |
T |
C |
9: 50,675,227 (GRCm39) |
T67A |
probably benign |
Het |
Cyp2c55 |
A |
G |
19: 39,023,990 (GRCm39) |
I355V |
probably benign |
Het |
Dido1 |
A |
G |
2: 180,313,696 (GRCm39) |
S319P |
probably damaging |
Het |
Efna5 |
A |
T |
17: 63,188,025 (GRCm39) |
V34D |
probably damaging |
Het |
Fam131a |
G |
T |
16: 20,518,389 (GRCm39) |
E88D |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,817,838 (GRCm39) |
R4524* |
probably null |
Het |
Gm6899 |
C |
T |
11: 26,543,484 (GRCm39) |
|
probably benign |
Het |
Iqcg |
C |
T |
16: 32,839,878 (GRCm39) |
R356Q |
probably damaging |
Het |
Itgae |
T |
A |
11: 73,036,377 (GRCm39) |
I1105N |
possibly damaging |
Het |
Klb |
T |
C |
5: 65,537,292 (GRCm39) |
I874T |
possibly damaging |
Het |
Klc3 |
T |
C |
7: 19,130,256 (GRCm39) |
Y307C |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 41,231,771 (GRCm39) |
H378L |
probably benign |
Het |
Mxd4 |
G |
A |
5: 34,335,044 (GRCm39) |
R114C |
probably damaging |
Het |
Nrdc |
A |
T |
4: 108,895,242 (GRCm39) |
R241* |
probably null |
Het |
Ofcc1 |
G |
A |
13: 40,433,905 (GRCm39) |
H67Y |
probably damaging |
Het |
Or10ak9 |
A |
G |
4: 118,726,379 (GRCm39) |
T134A |
possibly damaging |
Het |
Or5p5 |
A |
G |
7: 107,413,844 (GRCm39) |
T18A |
probably damaging |
Het |
Or7e165 |
T |
A |
9: 19,694,507 (GRCm39) |
I26N |
possibly damaging |
Het |
Pard3b |
G |
T |
1: 62,049,625 (GRCm39) |
A128S |
probably benign |
Het |
Plat |
T |
C |
8: 23,263,664 (GRCm39) |
Y188H |
probably benign |
Het |
Pten |
A |
G |
19: 32,735,866 (GRCm39) |
I8V |
probably benign |
Het |
Pwwp2a |
C |
T |
11: 43,596,968 (GRCm39) |
A436V |
probably damaging |
Het |
Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
Sdk1 |
T |
C |
5: 142,173,900 (GRCm39) |
C2023R |
possibly damaging |
Het |
Serpina1d |
A |
C |
12: 103,730,101 (GRCm39) |
D360E |
possibly damaging |
Het |
Serpinb9b |
A |
G |
13: 33,223,582 (GRCm39) |
D258G |
probably benign |
Het |
Smgc |
G |
A |
15: 91,726,108 (GRCm39) |
S18N |
possibly damaging |
Het |
Snx27 |
A |
T |
3: 94,410,157 (GRCm39) |
|
probably null |
Het |
Spem1 |
T |
G |
11: 69,712,263 (GRCm39) |
K134Q |
probably damaging |
Het |
Srgap3 |
T |
A |
6: 112,752,522 (GRCm39) |
M321L |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,602,697 (GRCm39) |
C163R |
possibly damaging |
Het |
Ube2ql1 |
A |
T |
13: 69,887,446 (GRCm39) |
L5H |
unknown |
Het |
Ubn2 |
T |
C |
6: 38,438,462 (GRCm39) |
I225T |
probably damaging |
Het |
Vmn1r181 |
A |
C |
7: 23,683,741 (GRCm39) |
T69P |
probably damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,816,494 (GRCm39) |
F10L |
probably benign |
Het |
Yeats2 |
T |
C |
16: 19,980,779 (GRCm39) |
M236T |
probably damaging |
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 |
R0579:Pop1
|
UTSW |
15 |
34,510,115 (GRCm39) |
missense |
possibly damaging |
0.68 |
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 |
|
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'- TCTGAATGACTTCCCCAGAGCC -3'
(R):5'- TAAGGCTTCTCCACAGCCAG -3'
Sequencing Primer
(F):5'- CCCTGGTGTGGGTCAGC -3'
(R):5'- GCAGCCATAGAAAAATCTCCCTGTG -3'
|
Posted On |
2016-11-09 |