Incidental Mutation 'R6139:Pop1'
| ID |
488508 |
| 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 |
044286-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R6139 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
34495304-34530648 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34529058 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 745
(C745S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052290]
[ENSMUST00000079028]
|
| AlphaFold |
Q8K205 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052290
AA Change: C775S
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: C775S
| 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 |
probably benign
Transcript: ENSMUST00000079028
AA Change: C745S
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: C745S
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
G |
11: 117,806,324 |
T250A |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,212,652 |
I1074T |
probably damaging |
Het |
| Acsl6 |
C |
A |
11: 54,340,542 |
P462T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,871,842 |
D747G |
probably damaging |
Het |
| Antxr2 |
A |
C |
5: 97,977,706 |
|
probably null |
Het |
| Arhgap35 |
T |
C |
7: 16,563,467 |
T558A |
possibly damaging |
Het |
| Asap1 |
T |
A |
15: 64,166,539 |
I223F |
possibly damaging |
Het |
| C2cd5 |
A |
C |
6: 143,035,058 |
D669E |
probably damaging |
Het |
| Casz1 |
C |
T |
4: 148,951,697 |
T1472M |
probably damaging |
Het |
| Catsper4 |
A |
G |
4: 134,217,866 |
L154P |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,953,279 |
E293G |
probably benign |
Het |
| Cma1 |
T |
A |
14: 55,942,700 |
|
probably null |
Het |
| Ddx42 |
C |
T |
11: 106,240,017 |
A439V |
probably damaging |
Het |
| Disp2 |
T |
A |
2: 118,790,662 |
L625Q |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,286,027 |
D2141G |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,192,406 |
I1389T |
probably damaging |
Het |
| Fam81a |
A |
T |
9: 70,102,818 |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,991,044 |
D5707G |
possibly damaging |
Het |
| Gcnt4 |
G |
A |
13: 96,946,852 |
V219I |
probably benign |
Het |
| Gk2 |
A |
G |
5: 97,456,280 |
V233A |
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,746,331 |
|
probably benign |
Het |
| Gsap |
T |
A |
5: 21,281,540 |
V649D |
probably damaging |
Het |
| Kif1b |
G |
A |
4: 149,237,532 |
H977Y |
possibly damaging |
Het |
| Ktn1 |
T |
A |
14: 47,726,215 |
|
probably null |
Het |
| Lgals12 |
T |
A |
19: 7,604,377 |
T29S |
probably benign |
Het |
| Me3 |
G |
T |
7: 89,632,900 |
|
probably benign |
Het |
| Mgst3 |
T |
G |
1: 167,378,305 |
K35T |
possibly damaging |
Het |
| Mtmr9 |
T |
C |
14: 63,529,778 |
R354G |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,215,874 |
E1059G |
probably damaging |
Het |
| Nr4a2 |
T |
A |
2: 57,108,689 |
H408L |
probably damaging |
Het |
| Olfr689 |
A |
T |
7: 105,314,246 |
T81S |
probably damaging |
Het |
| Olfr993 |
A |
T |
2: 85,414,346 |
F178I |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,800,777 |
L1275Q |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 109,027,757 |
Y412C |
probably damaging |
Het |
| Ptpn14 |
T |
G |
1: 189,851,165 |
S736R |
probably benign |
Het |
| Rdh9 |
A |
T |
10: 127,776,737 |
T85S |
possibly damaging |
Het |
| Rnf223 |
T |
C |
4: 156,132,803 |
C212R |
probably damaging |
Het |
| Rnf39 |
A |
G |
17: 36,943,338 |
E84G |
probably damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,811,418 |
V584D |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,992,311 |
S728T |
probably damaging |
Het |
| Slc16a12 |
T |
A |
19: 34,670,895 |
|
probably null |
Het |
| Snupn |
C |
A |
9: 56,982,824 |
Q310K |
possibly damaging |
Het |
| St7 |
T |
C |
6: 17,694,354 |
L48P |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,379,573 |
N951D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,852,069 |
R959* |
probably null |
Het |
| Ugt2b36 |
A |
T |
5: 87,092,171 |
D118E |
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,715,918 |
T327I |
probably damaging |
Het |
| Wdr70 |
T |
C |
15: 8,079,251 |
D137G |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,353,332 |
M14K |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,611,708 |
E283V |
probably benign |
Het |
|
| Other mutations in Pop1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Pop1
|
APN |
15 |
34,508,729 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02192:Pop1
|
APN |
15 |
34,529,071 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02680:Pop1
|
APN |
15 |
34,502,473 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02958:Pop1
|
APN |
15 |
34,530,363 (GRCm38) |
missense |
probably damaging |
0.99 |
|
H8562:Pop1
|
UTSW |
15 |
34,530,212 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4802001:Pop1
|
UTSW |
15 |
34,529,083 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0244:Pop1
|
UTSW |
15 |
34,515,891 (GRCm38) |
nonsense |
probably null |
|
|
R0281:Pop1
|
UTSW |
15 |
34,529,858 (GRCm38) |
splice site |
probably null |
|
|
R0453:Pop1
|
UTSW |
15 |
34,526,206 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0579:Pop1
|
UTSW |
15 |
34,509,969 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1054:Pop1
|
UTSW |
15 |
34,509,809 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1501:Pop1
|
UTSW |
15 |
34,510,357 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1614:Pop1
|
UTSW |
15 |
34,530,210 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1994:Pop1
|
UTSW |
15 |
34,530,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2084:Pop1
|
UTSW |
15 |
34,508,598 (GRCm38) |
splice site |
probably benign |
|
|
R4020:Pop1
|
UTSW |
15 |
34,508,780 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4550:Pop1
|
UTSW |
15 |
34,528,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4579:Pop1
|
UTSW |
15 |
34,515,824 (GRCm38) |
intron |
probably benign |
|
|
R5672:Pop1
|
UTSW |
15 |
34,530,179 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R6161:Pop1
|
UTSW |
15 |
34,526,310 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6821:Pop1
|
UTSW |
15 |
34,508,639 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7053:Pop1
|
UTSW |
15 |
34,530,275 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7195:Pop1
|
UTSW |
15 |
34,510,379 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7543:Pop1
|
UTSW |
15 |
34,530,447 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7571:Pop1
|
UTSW |
15 |
34,528,947 (GRCm38) |
missense |
probably null |
1.00 |
|
R7587:Pop1
|
UTSW |
15 |
34,502,413 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8401:Pop1
|
UTSW |
15 |
34,508,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8406:Pop1
|
UTSW |
15 |
34,529,170 (GRCm38) |
missense |
probably benign |
|
|
R8707:Pop1
|
UTSW |
15 |
34,529,203 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9044:Pop1
|
UTSW |
15 |
34,530,408 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9066:Pop1
|
UTSW |
15 |
34,515,914 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R9236:Pop1
|
UTSW |
15 |
34,499,412 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9600:Pop1
|
UTSW |
15 |
34,512,735 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9711:Pop1
|
UTSW |
15 |
34,530,081 (GRCm38) |
missense |
probably benign |
|
|
RF001:Pop1
|
UTSW |
15 |
34,502,437 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF002:Pop1
|
UTSW |
15 |
34,502,437 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Pop1
|
UTSW |
15 |
34,499,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGCTAAAAGGCCCAACTATG -3'
(R):5'- TACCCAGAGCCTGTTCAATATG -3'
Sequencing Primer
(F):5'- AGGCCCAACTATGTTAAGCTTGG -3'
(R):5'- TTCAAAATGTACCTGGCAGCTGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation