Incidental Mutation 'IGL00848:Pop1'
| ID |
13099 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pop1
|
| Ensembl Gene |
ENSMUSG00000022325 |
| Gene Name |
processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) |
| Synonyms |
4932434G09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL00848
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
34495457-34530799 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34508875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 317
(T317A)
|
| 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: T317A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: T317A
| 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: T317A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: T317A
| 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: ENSMUST00000126223
|
| Coding Region Coverage |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,370,237 (GRCm39) |
F508L |
probably damaging |
Het |
| Adgra3 |
C |
T |
5: 50,159,291 (GRCm39) |
G320R |
probably damaging |
Het |
| Arhgef40 |
G |
A |
14: 52,224,884 (GRCm39) |
V10M |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 75,003,388 (GRCm39) |
Q4739* |
probably null |
Het |
| Cdcp3 |
A |
G |
7: 130,848,453 (GRCm39) |
E869G |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,861,981 (GRCm39) |
H54Y |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,362,886 (GRCm39) |
D202G |
probably damaging |
Het |
| Cfhr2 |
T |
A |
1: 139,758,970 (GRCm39) |
T27S |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,938,255 (GRCm39) |
C523S |
possibly damaging |
Het |
| Copz1 |
T |
A |
15: 103,207,176 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
A |
C |
10: 43,843,814 (GRCm39) |
|
probably null |
Het |
| Cyp3a11 |
A |
T |
5: 145,799,275 (GRCm39) |
I304N |
probably damaging |
Het |
| Eif2d |
C |
T |
1: 131,092,173 (GRCm39) |
Q315* |
probably null |
Het |
| Fgfr4 |
A |
G |
13: 55,306,983 (GRCm39) |
E224G |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,505,658 (GRCm39) |
L870Q |
probably damaging |
Het |
| Glt8d2 |
C |
T |
10: 82,497,999 (GRCm39) |
|
probably null |
Het |
| Gpat3 |
A |
T |
5: 101,041,010 (GRCm39) |
M357L |
probably benign |
Het |
| Hrnr |
A |
T |
3: 93,230,204 (GRCm39) |
K147N |
unknown |
Het |
| Kbtbd3 |
T |
A |
9: 4,331,184 (GRCm39) |
S519R |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,976,624 (GRCm39) |
I221T |
probably benign |
Het |
| Khdrbs2 |
C |
T |
1: 32,511,833 (GRCm39) |
A266V |
probably benign |
Het |
| Lmtk2 |
A |
G |
5: 144,113,216 (GRCm39) |
E1312G |
probably benign |
Het |
| Mos |
T |
C |
4: 3,871,459 (GRCm39) |
N119S |
probably damaging |
Het |
| Mtpap |
C |
T |
18: 4,380,717 (GRCm39) |
H132Y |
probably benign |
Het |
| Myo18b |
G |
A |
5: 113,019,351 (GRCm39) |
T642I |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,196,463 (GRCm39) |
E1303G |
probably benign |
Het |
| Napepld |
A |
T |
5: 21,888,191 (GRCm39) |
M86K |
probably benign |
Het |
| Nvl |
T |
A |
1: 180,932,690 (GRCm39) |
D709V |
probably damaging |
Het |
| Pak1ip1 |
A |
T |
13: 41,166,099 (GRCm39) |
E341D |
probably benign |
Het |
| Pgghg |
G |
A |
7: 140,522,317 (GRCm39) |
G32D |
probably damaging |
Het |
| Phlpp1 |
G |
A |
1: 106,303,985 (GRCm39) |
R1096H |
probably damaging |
Het |
| Phlpp1 |
C |
T |
1: 106,267,178 (GRCm39) |
T697M |
probably damaging |
Het |
| Piwil4 |
T |
G |
9: 14,638,707 (GRCm39) |
T273P |
probably damaging |
Het |
| Pkd2l1 |
A |
T |
19: 44,180,718 (GRCm39) |
|
probably benign |
Het |
| Polr3b |
A |
G |
10: 84,516,241 (GRCm39) |
D623G |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,096,482 (GRCm39) |
K662I |
probably damaging |
Het |
| Ptger4 |
T |
C |
15: 5,264,589 (GRCm39) |
I356V |
probably benign |
Het |
| Rhbdd1 |
T |
C |
1: 82,318,165 (GRCm39) |
L16P |
possibly damaging |
Het |
| Rps11 |
C |
T |
7: 44,772,925 (GRCm39) |
R22Q |
probably benign |
Het |
| Sfxn2 |
A |
T |
19: 46,578,596 (GRCm39) |
I204F |
probably damaging |
Het |
| Slc26a9 |
C |
T |
1: 131,685,266 (GRCm39) |
S365F |
probably damaging |
Het |
| Slc47a2 |
C |
T |
11: 61,193,059 (GRCm39) |
V565M |
probably benign |
Het |
| Spns1 |
T |
C |
7: 125,970,414 (GRCm39) |
|
probably null |
Het |
| Stk3 |
T |
A |
15: 35,114,768 (GRCm39) |
E48V |
possibly damaging |
Het |
| Svs3b |
T |
C |
2: 164,098,021 (GRCm39) |
E100G |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,952,942 (GRCm39) |
Q1464R |
probably benign |
Het |
| Tspan10 |
T |
C |
11: 120,335,096 (GRCm39) |
S69P |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,942,007 (GRCm39) |
|
probably benign |
Het |
| Vps45 |
G |
T |
3: 95,964,285 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,343,208 (GRCm39) |
N1790K |
probably damaging |
Het |
| Zfp704 |
A |
T |
3: 9,630,299 (GRCm39) |
S21T |
possibly damaging |
Het |
|
| Other mutations in Pop1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation