Incidental Mutation 'R1614:Pop1'
| ID |
177017 |
| 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 |
039651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R1614 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
34495457-34530799 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34530356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 918
(A918D)
|
| 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: A948D
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: A948D
| 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: A918D
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: A918D
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl9 |
A |
G |
5: 77,158,412 (GRCm39) |
T165A |
probably benign |
Het |
| Atpaf1 |
A |
T |
4: 115,653,954 (GRCm39) |
K201N |
possibly damaging |
Het |
| Cacna1b |
G |
T |
2: 24,580,819 (GRCm39) |
Q676K |
possibly damaging |
Het |
| Ccdc88c |
A |
T |
12: 100,879,243 (GRCm39) |
H1959Q |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,094,985 (GRCm39) |
D808G |
probably damaging |
Het |
| Chct1 |
T |
G |
11: 85,063,690 (GRCm39) |
S28A |
possibly damaging |
Het |
| Chtf18 |
A |
G |
17: 25,946,064 (GRCm39) |
L42P |
probably benign |
Het |
| Cox7c |
A |
G |
13: 86,193,904 (GRCm39) |
F40L |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,949,517 (GRCm39) |
V442I |
probably benign |
Het |
| Dst |
T |
C |
1: 34,314,344 (GRCm39) |
F4198S |
probably damaging |
Het |
| Fam13a |
T |
A |
6: 58,917,169 (GRCm39) |
D569V |
probably damaging |
Het |
| Gm6741 |
T |
A |
17: 91,544,424 (GRCm39) |
H62Q |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,250,451 (GRCm39) |
T172A |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,751,172 (GRCm39) |
S1013P |
probably damaging |
Het |
| Insl5 |
A |
T |
4: 102,883,846 (GRCm39) |
L25* |
probably null |
Het |
| Ipo13 |
A |
G |
4: 117,761,815 (GRCm39) |
S462P |
probably benign |
Het |
| Itgb1 |
G |
A |
8: 129,446,546 (GRCm39) |
C401Y |
probably damaging |
Het |
| Kcnh7 |
G |
T |
2: 62,680,948 (GRCm39) |
A213E |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Mesp2 |
T |
C |
7: 79,461,367 (GRCm39) |
S231P |
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,510,511 (GRCm39) |
N164D |
possibly damaging |
Het |
| Nop53 |
A |
G |
7: 15,679,890 (GRCm39) |
V30A |
probably benign |
Het |
| Or1j17 |
T |
G |
2: 36,578,321 (GRCm39) |
Y102* |
probably null |
Het |
| Or4a73 |
T |
A |
2: 89,421,040 (GRCm39) |
I140L |
possibly damaging |
Het |
| Or4f54 |
T |
A |
2: 111,123,411 (GRCm39) |
V266E |
probably damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,862 (GRCm39) |
C189S |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,492,620 (GRCm39) |
R918C |
probably damaging |
Het |
| Pecam1 |
T |
C |
11: 106,571,905 (GRCm39) |
D554G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,634,199 (GRCm39) |
I744V |
possibly damaging |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Prmt3 |
A |
T |
7: 49,476,467 (GRCm39) |
I359F |
possibly damaging |
Het |
| Proz |
G |
A |
8: 13,116,904 (GRCm39) |
C152Y |
probably damaging |
Het |
| Ptgfr |
A |
C |
3: 151,507,416 (GRCm39) |
Y316D |
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,230,532 (GRCm39) |
S1011Y |
probably damaging |
Het |
| Rnf43 |
C |
T |
11: 87,622,485 (GRCm39) |
R529* |
probably null |
Het |
| Slc17a6 |
G |
A |
7: 51,296,025 (GRCm39) |
|
probably benign |
Het |
| Slc25a19 |
A |
T |
11: 115,507,449 (GRCm39) |
C224* |
probably null |
Het |
| Smarcd3 |
A |
G |
5: 24,799,874 (GRCm39) |
S299P |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,528,156 (GRCm39) |
F1471S |
possibly damaging |
Het |
| Strada |
A |
C |
11: 106,059,145 (GRCm39) |
V211G |
probably damaging |
Het |
| Tom1l1 |
T |
C |
11: 90,574,080 (GRCm39) |
E68G |
probably damaging |
Het |
| Vmn2r27 |
T |
G |
6: 124,200,893 (GRCm39) |
I355L |
probably benign |
Het |
| Vmn2r68 |
A |
T |
7: 84,870,946 (GRCm39) |
M779K |
possibly damaging |
Het |
| Zbtb18 |
T |
C |
1: 177,274,736 (GRCm39) |
L23P |
probably damaging |
Het |
| Zfp112 |
G |
T |
7: 23,826,024 (GRCm39) |
C664F |
probably damaging |
Het |
| Zfp955a |
A |
T |
17: 33,461,306 (GRCm39) |
N275K |
possibly 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 |
|
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'- TTCTGAATGACTTCCCCAGAGCCC -3'
(R):5'- GGACAACATTTCCAGCAAGCCG -3'
Sequencing Primer
(F):5'- CTTGTCCCTGCTCAGGAAG -3'
(R):5'- TTCCAGCAAGCCGGTCATAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation