Incidental Mutation 'R7053:Pop1'
| ID |
547738 |
| 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 |
045150-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R7053 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
34495457-34530799 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 34530421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 940
(S940A)
|
| 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: S970A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: S970A
| 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: S940A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: S940A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
T |
8: 44,021,836 (GRCm39) |
C551* |
probably null |
Het |
| Aldh1l1 |
C |
A |
6: 90,540,420 (GRCm39) |
T235K |
possibly damaging |
Het |
| Atp6v0a2 |
A |
G |
5: 124,783,923 (GRCm39) |
E257G |
probably damaging |
Het |
| AW146154 |
A |
G |
7: 41,131,988 (GRCm39) |
|
probably null |
Het |
| BC048507 |
T |
C |
13: 68,011,772 (GRCm39) |
Y50H |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,083,791 (GRCm39) |
N77D |
possibly damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,662,904 (GRCm39) |
E37G |
probably damaging |
Het |
| Ccn6 |
A |
G |
10: 39,034,297 (GRCm39) |
Y102H |
probably damaging |
Het |
| Col27a1 |
T |
A |
4: 63,251,404 (GRCm39) |
|
probably benign |
Het |
| Corin |
T |
A |
5: 72,458,870 (GRCm39) |
I960L |
probably benign |
Het |
| Csnk2b |
A |
G |
17: 35,335,422 (GRCm39) |
|
probably benign |
Het |
| Cyp2d26 |
T |
C |
15: 82,676,801 (GRCm39) |
S182G |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 37,851,666 (GRCm39) |
L74P |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,660,740 (GRCm39) |
D838G |
probably damaging |
Het |
| Dkkl1 |
G |
T |
7: 44,857,022 (GRCm39) |
Q182K |
probably damaging |
Het |
| Dnai2 |
T |
C |
11: 114,629,521 (GRCm39) |
S183P |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,344,161 (GRCm39) |
L1835P |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,225,328 (GRCm39) |
|
probably null |
Het |
| Fam174a |
C |
T |
1: 95,252,953 (GRCm39) |
A185V |
probably damaging |
Het |
| Fhip1b |
C |
T |
7: 105,033,779 (GRCm39) |
G479D |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Grid2 |
G |
T |
6: 64,677,402 (GRCm39) |
A74S |
unknown |
Het |
| Gsdma3 |
T |
A |
11: 98,520,621 (GRCm39) |
M84K |
possibly damaging |
Het |
| Hlcs |
A |
T |
16: 94,068,874 (GRCm39) |
S262R |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,376,963 (GRCm39) |
C4205R |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,157,218 (GRCm39) |
A181V |
probably benign |
Het |
| Mdga2 |
T |
A |
12: 66,736,158 (GRCm39) |
I357F |
probably benign |
Het |
| Mfn1 |
A |
G |
3: 32,586,114 (GRCm39) |
I21V |
probably benign |
Het |
| Mgat4b |
C |
T |
11: 50,124,367 (GRCm39) |
T409M |
probably damaging |
Het |
| Mgat4d |
G |
T |
8: 84,098,261 (GRCm39) |
K341N |
probably damaging |
Het |
| Mpo |
A |
T |
11: 87,694,336 (GRCm39) |
N109Y |
probably damaging |
Het |
| Mvp |
T |
C |
7: 126,586,776 (GRCm39) |
Q785R |
possibly damaging |
Het |
| Nim1k |
A |
G |
13: 120,189,145 (GRCm39) |
V88A |
probably damaging |
Het |
| Oasl2 |
A |
T |
5: 115,049,291 (GRCm39) |
I464L |
possibly damaging |
Het |
| Or5m11b |
G |
T |
2: 85,806,358 (GRCm39) |
C257F |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,740,681 (GRCm39) |
F2139L |
probably damaging |
Het |
| Ppp1r9a |
T |
A |
6: 4,905,670 (GRCm39) |
M75K |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,595,742 (GRCm39) |
Q1029* |
probably null |
Het |
| Rffl |
T |
C |
11: 82,703,497 (GRCm39) |
K142R |
probably null |
Het |
| Rhou |
A |
G |
8: 124,380,934 (GRCm39) |
|
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,268,958 (GRCm39) |
T1515S |
possibly damaging |
Het |
| Serpina1b |
T |
A |
12: 103,698,688 (GRCm39) |
S54C |
possibly damaging |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Taok3 |
T |
A |
5: 117,390,627 (GRCm39) |
D529E |
probably benign |
Het |
| Tmem18 |
T |
A |
12: 30,634,506 (GRCm39) |
M1K |
probably null |
Het |
| Tmem269 |
T |
A |
4: 119,066,464 (GRCm39) |
H198L |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,772,984 (GRCm39) |
V432A |
unknown |
Het |
| Ttc6 |
A |
T |
12: 57,707,318 (GRCm39) |
T742S |
probably benign |
Het |
| Uhrf2 |
T |
A |
19: 30,069,519 (GRCm39) |
C749S |
probably damaging |
Het |
| Unc13c |
G |
A |
9: 73,839,579 (GRCm39) |
T424I |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r61 |
A |
C |
7: 41,916,557 (GRCm39) |
D390A |
probably damaging |
Het |
| Xpo7 |
A |
G |
14: 70,922,298 (GRCm39) |
|
probably null |
Het |
| Zfp948 |
T |
A |
17: 21,805,121 (GRCm39) |
L37* |
probably null |
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 |
|
|
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 |
|
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'- TCAGGATCAGTGCTACCATGG -3'
(R):5'- AATTCTTGCAAACCGATACTGCAG -3'
Sequencing Primer
(F):5'- ATCAGTGCTACCATGGACCCTG -3'
(R):5'- ACCGATACTGCAGTGAGGTTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation