Incidental Mutation 'R4350:Pabpc4'
| ID |
328467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pabpc4
|
| Ensembl Gene |
ENSMUSG00000011257 |
| Gene Name |
poly(A) binding protein, cytoplasmic 4 |
| Synonyms |
|
| MMRRC Submission |
041105-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
123172722-123192718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 123184060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 191
(T191I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078734]
[ENSMUST00000080178]
[ENSMUST00000106241]
[ENSMUST00000106243]
[ENSMUST00000183940]
|
| AlphaFold |
Q6PHQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078734
AA Change: T191I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077794
Gene: ENSMUSG00000011257
AA Change: T191I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
12 |
85 |
1.47e-21 |
SMART |
|
RRM
|
100 |
171 |
2.91e-25 |
SMART |
|
RRM
|
192 |
264 |
1.27e-25 |
SMART |
|
RRM
|
295 |
366 |
2.54e-25 |
SMART |
|
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
516 |
N/A |
INTRINSIC |
|
PolyA
|
534 |
597 |
4.49e-41 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080178
AA Change: T191I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079070
Gene: ENSMUSG00000011257
AA Change: T191I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
12 |
85 |
1.47e-21 |
SMART |
|
RRM
|
100 |
171 |
2.91e-25 |
SMART |
|
RRM
|
192 |
264 |
1.27e-25 |
SMART |
|
RRM
|
295 |
366 |
2.54e-25 |
SMART |
|
low complexity region
|
523 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
561 |
N/A |
INTRINSIC |
|
PolyA
|
579 |
642 |
4.49e-41 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083844
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106241
AA Change: T191I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101848
Gene: ENSMUSG00000011257
AA Change: T191I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
12 |
85 |
1.47e-21 |
SMART |
|
RRM
|
100 |
171 |
2.91e-25 |
SMART |
|
RRM
|
192 |
264 |
1.27e-25 |
SMART |
|
RRM
|
295 |
366 |
2.54e-25 |
SMART |
|
low complexity region
|
507 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
PolyA
|
563 |
626 |
4.49e-41 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106243
AA Change: T191I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101850
Gene: ENSMUSG00000011257
AA Change: T191I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
12 |
85 |
6.2e-24 |
SMART |
|
RRM
|
100 |
171 |
1.2e-27 |
SMART |
|
RRM
|
192 |
264 |
5.4e-28 |
SMART |
|
RRM
|
295 |
366 |
1e-27 |
SMART |
|
low complexity region
|
494 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
532 |
N/A |
INTRINSIC |
|
PolyA
|
550 |
613 |
2.1e-43 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156807
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183940
|
| SMART Domains |
Protein: ENSMUSP00000139135
Gene: ENSMUSG00000011257
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
12 |
85 |
1.47e-21 |
SMART |
|
RRM
|
100 |
167 |
7.64e-20 |
SMART |
|
| Meta Mutation Damage Score |
0.3066 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encoding a protein. Activation of T cells increased PABPC4 mRNA levels in T cells approximately 5-fold. PABPC4 contains 4 RNA-binding domains and proline-rich C terminus. PABPC4 is localized primarily to the cytoplasm. It is suggested that PABPC4 might be necessary for regulation of stability of labile mRNA species in activated T cells. PABPC4 was also identified as an antigen, APP1 (activated-platelet protein-1), expressed on thrombin-activated rabbit platelets. PABPC4 may also be involved in the regulation of protein translation in platelets and megakaryocytes or may participate in the binding or stabilization of polyadenylates in platelet dense granules. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,498,020 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,555,119 (GRCm39) |
D402G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,827,640 (GRCm39) |
E954G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cst13 |
A |
G |
2: 148,672,169 (GRCm39) |
M115V |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,648,525 (GRCm39) |
Y722N |
probably damaging |
Het |
| Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Epha7 |
T |
C |
4: 28,950,393 (GRCm39) |
V732A |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,444,036 (GRCm39) |
I457V |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,848,220 (GRCm39) |
F165L |
probably damaging |
Het |
| Gcn1 |
G |
T |
5: 115,741,389 (GRCm39) |
R1476L |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,012 (GRCm39) |
S256G |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rchy1 |
T |
C |
5: 92,105,813 (GRCm39) |
D45G |
probably damaging |
Het |
| Rftn2 |
T |
C |
1: 55,233,440 (GRCm39) |
T372A |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,006,293 (GRCm39) |
P896S |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rpl7a-ps3 |
T |
C |
15: 36,308,283 (GRCm39) |
|
noncoding transcript |
Het |
| Sox7 |
A |
G |
14: 64,185,995 (GRCm39) |
T344A |
probably benign |
Het |
| Sppl2b |
T |
C |
10: 80,698,560 (GRCm39) |
Y127H |
probably benign |
Het |
| Srsf12 |
T |
C |
4: 33,223,612 (GRCm39) |
V37A |
possibly damaging |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,118,154 (GRCm39) |
C1705S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,691,117 (GRCm39) |
T474A |
probably benign |
Het |
| Tubgcp6 |
G |
A |
15: 88,988,198 (GRCm39) |
P925L |
probably benign |
Het |
|
| Other mutations in Pabpc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Pabpc4
|
APN |
4 |
123,180,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00970:Pabpc4
|
APN |
4 |
123,180,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03093:Pabpc4
|
APN |
4 |
123,180,502 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0383:Pabpc4
|
UTSW |
4 |
123,191,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Pabpc4
|
UTSW |
4 |
123,188,458 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1076:Pabpc4
|
UTSW |
4 |
123,186,701 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1381:Pabpc4
|
UTSW |
4 |
123,182,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Pabpc4
|
UTSW |
4 |
123,182,861 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1957:Pabpc4
|
UTSW |
4 |
123,180,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2324:Pabpc4
|
UTSW |
4 |
123,191,571 (GRCm39) |
splice site |
probably benign |
|
|
R2567:Pabpc4
|
UTSW |
4 |
123,191,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:Pabpc4
|
UTSW |
4 |
123,188,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4352:Pabpc4
|
UTSW |
4 |
123,184,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Pabpc4
|
UTSW |
4 |
123,184,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Pabpc4
|
UTSW |
4 |
123,184,100 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5386:Pabpc4
|
UTSW |
4 |
123,188,790 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5622:Pabpc4
|
UTSW |
4 |
123,185,524 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6853:Pabpc4
|
UTSW |
4 |
123,188,536 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7558:Pabpc4
|
UTSW |
4 |
123,188,413 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7602:Pabpc4
|
UTSW |
4 |
123,186,685 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7631:Pabpc4
|
UTSW |
4 |
123,182,763 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7714:Pabpc4
|
UTSW |
4 |
123,189,102 (GRCm39) |
missense |
probably benign |
|
|
R7935:Pabpc4
|
UTSW |
4 |
123,191,837 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7951:Pabpc4
|
UTSW |
4 |
123,177,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8074:Pabpc4
|
UTSW |
4 |
123,180,508 (GRCm39) |
missense |
probably benign |
|
|
R8353:Pabpc4
|
UTSW |
4 |
123,189,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9562:Pabpc4
|
UTSW |
4 |
123,180,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Pabpc4
|
UTSW |
4 |
123,180,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9672:Pabpc4
|
UTSW |
4 |
123,184,133 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Pabpc4
|
UTSW |
4 |
123,189,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCCTCGTGCGTTTTAACC -3'
(R):5'- GGCCTGGACTCAATATCCAC -3'
Sequencing Primer
(F):5'- GTGCGTTTTAACCTCTCCTGTCAG -3'
(R):5'- AAGAGGGCGTCAGATCTCCTTAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation