Incidental Mutation 'IGL01830:Pelo'
| ID |
154742 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pelo
|
| Ensembl Gene |
ENSMUSG00000042275 |
| Gene Name |
pelota mRNA surveillance and ribosome rescue factor |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
IGL01830
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
115224891-115226694 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115225131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 365
(I365F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
[ENSMUST00000109226]
[ENSMUST00000224495]
[ENSMUST00000224997]
|
| AlphaFold |
Q80X73 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061673
|
| SMART Domains |
Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
| Domain | Start | End | E-Value | Type |
|---|
|
Int_alpha
|
43 |
96 |
1.63e0 |
SMART |
|
VWA
|
170 |
360 |
4.24e-44 |
SMART |
|
Int_alpha
|
432 |
481 |
4.21e-3 |
SMART |
|
Int_alpha
|
485 |
542 |
3.19e-12 |
SMART |
|
Int_alpha
|
566 |
621 |
1.79e-15 |
SMART |
|
Int_alpha
|
628 |
682 |
3.04e1 |
SMART |
|
low complexity region
|
1108 |
1122 |
N/A |
INTRINSIC |
|
PDB:2L8S|A
|
1135 |
1179 |
5e-10 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109226
AA Change: I365F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104849
Gene: ENSMUSG00000042275
AA Change: I365F
| Domain | Start | End | E-Value | Type |
|---|
|
eRF1_1
|
1 |
130 |
9.4e-63 |
SMART |
|
Pfam:eRF1_2
|
136 |
268 |
1.1e-38 |
PFAM |
|
Pfam:eRF1_3
|
271 |
370 |
4.9e-28 |
PFAM |
|
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224119
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224493
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224865
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225093
|
| 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 a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with embryonic growth retardation, aneuploidy, polyploidy, and developmental failure past E7.5 due to defects in cell proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsg |
C |
A |
16: 22,717,779 (GRCm39) |
P252Q |
probably damaging |
Het |
| Anks4b |
T |
A |
7: 119,773,219 (GRCm39) |
N26K |
probably damaging |
Het |
| Arrdc5 |
C |
T |
17: 56,601,652 (GRCm39) |
V158I |
probably damaging |
Het |
| Catsper2 |
T |
C |
2: 121,237,843 (GRCm39) |
D179G |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,672,603 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
T |
A |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
| Cep57l1 |
C |
T |
10: 41,604,649 (GRCm39) |
C160Y |
probably benign |
Het |
| Chek2 |
T |
A |
5: 111,021,374 (GRCm39) |
L528Q |
probably benign |
Het |
| Ciita |
T |
C |
16: 10,338,915 (GRCm39) |
L973P |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,582,744 (GRCm39) |
L637* |
probably null |
Het |
| Fsip2 |
A |
C |
2: 82,815,273 (GRCm39) |
I3669L |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,578,968 (GRCm39) |
V1218A |
probably benign |
Het |
| Gip |
T |
C |
11: 95,919,550 (GRCm39) |
L91S |
possibly damaging |
Het |
| Gp2 |
T |
C |
7: 119,050,765 (GRCm39) |
D322G |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,442,636 (GRCm39) |
V177A |
probably damaging |
Het |
| Kng2 |
T |
C |
16: 22,806,801 (GRCm39) |
D466G |
probably damaging |
Het |
| Lpar5 |
G |
A |
6: 125,058,785 (GRCm39) |
A169T |
probably benign |
Het |
| Med13 |
C |
T |
11: 86,179,754 (GRCm39) |
|
probably benign |
Het |
| Meiob |
T |
A |
17: 25,054,105 (GRCm39) |
C391S |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,339,869 (GRCm39) |
T417A |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,836,624 (GRCm39) |
L279* |
probably null |
Het |
| Myo1g |
T |
A |
11: 6,464,522 (GRCm39) |
K513* |
probably null |
Het |
| Nxpe2 |
A |
T |
9: 48,237,794 (GRCm39) |
S154T |
probably damaging |
Het |
| Ogn |
C |
T |
13: 49,762,723 (GRCm39) |
Q22* |
probably null |
Het |
| Or4c12 |
A |
G |
2: 89,773,775 (GRCm39) |
L228S |
probably benign |
Het |
| Pacs2 |
A |
T |
12: 113,020,574 (GRCm39) |
K316* |
probably null |
Het |
| Phf3 |
G |
A |
1: 30,853,148 (GRCm39) |
Q1021* |
probably null |
Het |
| Pik3r4 |
A |
G |
9: 105,522,154 (GRCm39) |
D240G |
probably damaging |
Het |
| Pknox1 |
T |
C |
17: 31,814,284 (GRCm39) |
M203T |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,102,153 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
T |
5: 130,240,907 (GRCm39) |
C342F |
possibly damaging |
Het |
| Rbm19 |
A |
C |
5: 120,262,760 (GRCm39) |
K307T |
possibly damaging |
Het |
| Sdcbp2 |
T |
A |
2: 151,431,494 (GRCm39) |
I289N |
probably damaging |
Het |
| Slc5a12 |
G |
A |
2: 110,428,151 (GRCm39) |
G69R |
probably damaging |
Het |
| Spag1 |
C |
A |
15: 36,221,705 (GRCm39) |
S599R |
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,199,811 (GRCm39) |
D4565V |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
| Vmn1r225 |
T |
C |
17: 20,722,717 (GRCm39) |
S53P |
probably damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,272,767 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pelo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03303:Pelo
|
APN |
13 |
115,225,197 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0136:Pelo
|
UTSW |
13 |
115,225,439 (GRCm39) |
nonsense |
probably null |
|
|
R0299:Pelo
|
UTSW |
13 |
115,225,439 (GRCm39) |
nonsense |
probably null |
|
|
R4724:Pelo
|
UTSW |
13 |
115,225,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Pelo
|
UTSW |
13 |
115,226,152 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5570:Pelo
|
UTSW |
13 |
115,226,152 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5587:Pelo
|
UTSW |
13 |
115,226,409 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5917:Pelo
|
UTSW |
13 |
115,225,930 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5919:Pelo
|
UTSW |
13 |
115,225,845 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5931:Pelo
|
UTSW |
13 |
115,225,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6011:Pelo
|
UTSW |
13 |
115,226,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7838:Pelo
|
UTSW |
13 |
115,226,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Pelo
|
UTSW |
13 |
115,225,451 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2014-02-04 |
Incidental Mutation