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: 0.953)
|
| Stock # |
R5672 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
34495304-34530648 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34530179 bp (GRCm38)
|
| 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 |
|---|
| 1110032A03Rik |
T |
C |
9: 50,763,927 |
T67A |
probably benign |
Het |
| A4gnt |
A |
G |
9: 99,620,330 |
N181S |
possibly damaging |
Het |
| Abcf3 |
A |
T |
16: 20,549,252 |
Q74L |
probably benign |
Het |
| Ankrd13c |
T |
C |
3: 157,961,027 |
|
probably null |
Het |
| Bub1 |
A |
G |
2: 127,804,880 |
F827L |
possibly damaging |
Het |
| Cyp2c55 |
A |
G |
19: 39,035,546 |
I355V |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,671,903 |
S319P |
probably damaging |
Het |
| Efna5 |
A |
T |
17: 62,881,030 |
V34D |
probably damaging |
Het |
| Fam131a |
G |
T |
16: 20,699,639 |
E88D |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,987,494 |
R4524* |
probably null |
Het |
| Gm6899 |
C |
T |
11: 26,593,484 |
|
probably benign |
Het |
| Iqcg |
C |
T |
16: 33,019,508 |
R356Q |
probably damaging |
Het |
| Itgae |
T |
A |
11: 73,145,551 |
I1105N |
possibly damaging |
Het |
| Klb |
T |
C |
5: 65,379,949 |
I874T |
possibly damaging |
Het |
| Klc3 |
T |
C |
7: 19,396,331 |
Y307C |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,341,759 |
H378L |
probably benign |
Het |
| Mxd4 |
G |
A |
5: 34,177,700 |
R114C |
probably damaging |
Het |
| Nrd1 |
A |
T |
4: 109,038,045 |
R241* |
probably null |
Het |
| Ofcc1 |
G |
A |
13: 40,280,429 |
H67Y |
probably damaging |
Het |
| Olfr1331 |
A |
G |
4: 118,869,182 |
T134A |
possibly damaging |
Het |
| Olfr467 |
A |
G |
7: 107,814,637 |
T18A |
probably damaging |
Het |
| Olfr58 |
T |
A |
9: 19,783,211 |
I26N |
possibly damaging |
Het |
| Pard3b |
G |
T |
1: 62,010,466 |
A128S |
probably benign |
Het |
| Plat |
T |
C |
8: 22,773,648 |
Y188H |
probably benign |
Het |
| Pten |
A |
G |
19: 32,758,466 |
I8V |
probably benign |
Het |
| Pwwp2a |
C |
T |
11: 43,706,141 |
A436V |
probably damaging |
Het |
| Rnf145 |
G |
A |
11: 44,531,293 |
V68M |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,188,145 |
C2023R |
possibly damaging |
Het |
| Serpina1d |
A |
C |
12: 103,763,842 |
D360E |
possibly damaging |
Het |
| Serpinb9b |
A |
G |
13: 33,039,599 |
D258G |
probably benign |
Het |
| Smgc |
G |
A |
15: 91,841,905 |
S18N |
possibly damaging |
Het |
| Snx27 |
A |
T |
3: 94,502,850 |
|
probably null |
Het |
| Spem1 |
T |
G |
11: 69,821,437 |
K134Q |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,775,561 |
M321L |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,772,353 |
C163R |
possibly damaging |
Het |
| Ube2ql1 |
A |
T |
13: 69,739,327 |
L5H |
unknown |
Het |
| Ubn2 |
T |
C |
6: 38,461,527 |
I225T |
probably damaging |
Het |
| Vmn1r181 |
A |
C |
7: 23,984,316 |
T69P |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,596,232 |
F10L |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,162,029 |
M236T |
probably damaging |
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 |
|
|
R6139:Pop1
|
UTSW |
15 |
34,529,058 (GRCm38) |
missense |
probably benign |
0.26 |
|
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'- TCTGAATGACTTCCCCAGAGCC -3'
(R):5'- TAAGGCTTCTCCACAGCCAG -3'
Sequencing Primer
(F):5'- CCCTGGTGTGGGTCAGC -3'
(R):5'- GCAGCCATAGAAAAATCTCCCTGTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation