Incidental Mutation 'R5324:Pabpc1'
| ID |
405032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pabpc1
|
| Ensembl Gene |
ENSMUSG00000022283 |
| Gene Name |
poly(A) binding protein, cytoplasmic 1 |
| Synonyms |
Pabpl1, Pabp1 |
| MMRRC Submission |
042907-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.541)
|
| Stock # |
R5324 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
36595902-36609825 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36600869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 314
(F314L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001809]
|
| AlphaFold |
P29341 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001809
AA Change: F314L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001809
Gene: ENSMUSG00000022283
AA Change: F314L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
12 |
85 |
6.86e-22 |
SMART |
|
RRM
|
100 |
171 |
2.72e-25 |
SMART |
|
RRM
|
192 |
264 |
5.39e-29 |
SMART |
|
RRM
|
295 |
366 |
5.83e-25 |
SMART |
|
low complexity region
|
455 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
509 |
N/A |
INTRINSIC |
|
PolyA
|
554 |
617 |
6.9e-42 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142357
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146577
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147116
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155116
|
| SMART Domains |
Protein: ENSMUSP00000117063
Gene: ENSMUSG00000022283
| Domain | Start | End | E-Value | Type |
|---|
|
PolyA
|
36 |
99 |
6.9e-42 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226830
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Ap5b1 |
G |
A |
19: 5,619,863 (GRCm39) |
E428K |
possibly damaging |
Het |
| Bmp2 |
C |
T |
2: 133,403,279 (GRCm39) |
R277* |
probably null |
Het |
| Cbl |
A |
T |
9: 44,065,551 (GRCm39) |
S659T |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,201,841 (GRCm39) |
H43L |
unknown |
Het |
| Corin |
A |
G |
5: 72,592,600 (GRCm39) |
C133R |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,609,652 (GRCm39) |
N401S |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,132,227 (GRCm39) |
D508G |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,348,819 (GRCm39) |
H2556L |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,140,458 (GRCm39) |
F1333L |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,005,660 (GRCm39) |
K717E |
possibly damaging |
Het |
| Fmn2 |
G |
A |
1: 174,436,446 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hbp1 |
T |
C |
12: 31,978,617 (GRCm39) |
N510S |
probably damaging |
Het |
| Lrguk |
T |
C |
6: 34,050,732 (GRCm39) |
S397P |
possibly damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,953,570 (GRCm39) |
D617V |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| N6amt1 |
A |
G |
16: 87,151,241 (GRCm39) |
D34G |
probably damaging |
Het |
| Nktr |
A |
T |
9: 121,556,412 (GRCm39) |
D30V |
probably damaging |
Het |
| Or52ab7 |
T |
A |
7: 102,978,257 (GRCm39) |
M188K |
probably damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,040 (GRCm39) |
I174F |
probably damaging |
Het |
| Or6c212 |
T |
A |
10: 129,558,814 (GRCm39) |
I200L |
probably benign |
Het |
| Papln |
G |
A |
12: 83,821,345 (GRCm39) |
V226M |
probably damaging |
Het |
| Parp12 |
A |
T |
6: 39,079,546 (GRCm39) |
D321E |
probably damaging |
Het |
| Plch2 |
T |
A |
4: 155,068,991 (GRCm39) |
T1107S |
probably benign |
Het |
| Psma2 |
T |
C |
13: 14,799,802 (GRCm39) |
L182P |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,105,401 (GRCm39) |
Y196C |
probably benign |
Het |
| Rdh16 |
G |
A |
10: 127,637,136 (GRCm39) |
V24M |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,310,041 (GRCm39) |
T105A |
possibly damaging |
Het |
| Serpini1 |
T |
C |
3: 75,547,601 (GRCm39) |
I371T |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,191,674 (GRCm39) |
N920S |
probably benign |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tmprss11f |
T |
A |
5: 86,704,837 (GRCm39) |
D27V |
possibly damaging |
Het |
| Zfp747l1 |
G |
T |
7: 126,984,079 (GRCm39) |
|
probably benign |
Het |
| Zxdc |
T |
A |
6: 90,350,782 (GRCm39) |
I411N |
probably damaging |
Het |
|
| Other mutations in Pabpc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01602:Pabpc1
|
APN |
15 |
36,599,550 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01605:Pabpc1
|
APN |
15 |
36,599,550 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01973:Pabpc1
|
APN |
15 |
36,599,519 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0309:Pabpc1
|
UTSW |
15 |
36,597,737 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0667:Pabpc1
|
UTSW |
15 |
36,598,275 (GRCm39) |
missense |
probably benign |
|
|
R0883:Pabpc1
|
UTSW |
15 |
36,599,298 (GRCm39) |
unclassified |
probably benign |
|
|
R1682:Pabpc1
|
UTSW |
15 |
36,605,785 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1749:Pabpc1
|
UTSW |
15 |
36,608,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Pabpc1
|
UTSW |
15 |
36,599,528 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4732:Pabpc1
|
UTSW |
15 |
36,599,528 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4733:Pabpc1
|
UTSW |
15 |
36,599,528 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4825:Pabpc1
|
UTSW |
15 |
36,597,255 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5328:Pabpc1
|
UTSW |
15 |
36,603,121 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5711:Pabpc1
|
UTSW |
15 |
36,606,074 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6073:Pabpc1
|
UTSW |
15 |
36,600,895 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6751:Pabpc1
|
UTSW |
15 |
36,597,778 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7632:Pabpc1
|
UTSW |
15 |
36,598,212 (GRCm39) |
frame shift |
probably null |
|
|
R8042:Pabpc1
|
UTSW |
15 |
36,598,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAATCTGACTCCCAAGG -3'
(R):5'- ACTTCCAGGTAACAGGTTGGG -3'
Sequencing Primer
(F):5'- AAATAGGATCTTTTCTACTTGGGGG -3'
(R):5'- CAGGTAACAGGTTGGGAGGGAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation