Incidental Mutation 'IGL01602:Pabpc1'
ID |
278761 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pabpc1
|
Ensembl Gene |
ENSMUSG00000022283 |
Gene Name |
poly(A) binding protein, cytoplasmic 1 |
Synonyms |
Pabpl1, Pabp1 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.541)
|
Stock # |
IGL01602
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
36595902-36609825 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36599550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 382
(Y382H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001809
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001809]
|
AlphaFold |
P29341 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001809
AA Change: Y382H
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000001809 Gene: ENSMUSG00000022283 AA Change: Y382H
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 |
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
A |
T |
7: 66,538,159 (GRCm39) |
M242L |
probably benign |
Het |
Brip1 |
T |
A |
11: 85,952,830 (GRCm39) |
T984S |
possibly damaging |
Het |
Cdh17 |
T |
C |
4: 11,795,670 (GRCm39) |
Y417H |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,833,834 (GRCm39) |
I1196N |
probably damaging |
Het |
Cyp3a57 |
T |
C |
5: 145,323,854 (GRCm39) |
F447S |
probably damaging |
Het |
Dnah12 |
C |
T |
14: 26,431,430 (GRCm39) |
|
probably benign |
Het |
Dock8 |
C |
T |
19: 25,067,252 (GRCm39) |
|
probably benign |
Het |
Eif1ad5 |
A |
T |
12: 87,940,530 (GRCm39) |
|
noncoding transcript |
Het |
Fam163b |
A |
G |
2: 27,002,688 (GRCm39) |
F103S |
probably damaging |
Het |
G0s2 |
A |
G |
1: 192,954,964 (GRCm39) |
L40P |
probably damaging |
Het |
Gucy1b1 |
C |
T |
3: 81,942,660 (GRCm39) |
R494Q |
probably benign |
Het |
Hsd17b1 |
T |
C |
11: 100,969,755 (GRCm39) |
V89A |
probably damaging |
Het |
Iqcg |
T |
C |
16: 32,837,348 (GRCm39) |
|
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,148,192 (GRCm39) |
|
probably benign |
Het |
Mmp17 |
A |
G |
5: 129,679,008 (GRCm39) |
D331G |
probably benign |
Het |
Mnx1 |
T |
C |
5: 29,682,591 (GRCm39) |
D228G |
unknown |
Het |
Msantd2 |
A |
G |
9: 37,428,736 (GRCm39) |
E101G |
probably benign |
Het |
Msh2 |
T |
C |
17: 88,003,917 (GRCm39) |
|
probably benign |
Het |
Prl7b1 |
A |
G |
13: 27,786,027 (GRCm39) |
S214P |
possibly damaging |
Het |
Rbpj-ps3 |
T |
C |
6: 46,507,025 (GRCm39) |
|
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,433,531 (GRCm39) |
M162K |
possibly damaging |
Het |
Skint2 |
A |
G |
4: 112,483,191 (GRCm39) |
T199A |
probably benign |
Het |
Slc24a1 |
T |
A |
9: 64,833,463 (GRCm39) |
D1044V |
probably damaging |
Het |
Stim1 |
A |
G |
7: 102,035,322 (GRCm39) |
D100G |
possibly damaging |
Het |
Taar5 |
C |
T |
10: 23,846,962 (GRCm39) |
T120I |
probably benign |
Het |
Trhde |
A |
G |
10: 114,623,848 (GRCm39) |
V352A |
probably benign |
Het |
Ubap2 |
T |
A |
4: 41,227,237 (GRCm39) |
D160V |
probably damaging |
Het |
Vmn2r18 |
A |
G |
5: 151,510,106 (GRCm39) |
V89A |
possibly damaging |
Het |
Wbp1l |
A |
G |
19: 46,642,839 (GRCm39) |
D264G |
possibly damaging |
Het |
|
Other mutations in Pabpc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R5324:Pabpc1
|
UTSW |
15 |
36,600,869 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-04-16 |