Incidental Mutation 'R8330:Pabpc1l'
| ID |
644296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pabpc1l
|
| Ensembl Gene |
ENSMUSG00000054582 |
| Gene Name |
poly(A) binding protein, cytoplasmic 1-like |
| Synonyms |
1810053B01Rik, ePAB |
| MMRRC Submission |
067799-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8330 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
163867370-163892458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 163869568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 123
(G123R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067715]
|
| AlphaFold |
A2A5N3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067715
AA Change: G123R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582
AA Change: G123R
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
12 |
85 |
2.3e-23 |
SMART |
|
RRM
|
100 |
171 |
1.84e-22 |
SMART |
|
RRM
|
192 |
264 |
2.31e-28 |
SMART |
|
RRM
|
295 |
366 |
7.07e-24 |
SMART |
|
SCOP:d1g9la_
|
425 |
478 |
1e-6 |
SMART |
|
PolyA
|
535 |
598 |
8.33e-27 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired oocyte maturation and female infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,381,750 (GRCm39) |
D1405V |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,236,034 (GRCm39) |
I514V |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,987,026 (GRCm39) |
V2770A |
possibly damaging |
Het |
| B4galt1 |
A |
G |
4: 40,812,787 (GRCm39) |
V246A |
probably damaging |
Het |
| Cdr2l |
T |
C |
11: 115,284,939 (GRCm39) |
V425A |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,816,501 (GRCm39) |
D1814V |
probably damaging |
Het |
| Exoc2 |
A |
G |
13: 31,061,556 (GRCm39) |
V495A |
probably benign |
Het |
| Ifi47 |
A |
G |
11: 48,986,637 (GRCm39) |
T135A |
possibly damaging |
Het |
| Klhl23 |
T |
C |
2: 69,654,496 (GRCm39) |
V122A |
probably damaging |
Het |
| Klri2 |
T |
A |
6: 129,710,694 (GRCm39) |
N142Y |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,509,692 (GRCm39) |
F3161L |
probably null |
Het |
| Mgl2 |
A |
G |
11: 70,026,785 (GRCm39) |
T144A |
probably benign |
Het |
| Mpp3 |
T |
C |
11: 101,899,453 (GRCm39) |
E356G |
probably benign |
Het |
| Neb |
T |
G |
2: 52,117,420 (GRCm39) |
T872P |
|
Het |
| Nek9 |
A |
G |
12: 85,376,727 (GRCm39) |
M218T |
probably damaging |
Het |
| Or10a49 |
A |
T |
7: 108,468,046 (GRCm39) |
L105H |
probably damaging |
Het |
| Or4f14 |
A |
G |
2: 111,742,724 (GRCm39) |
F184L |
probably benign |
Het |
| Or51k2 |
T |
G |
7: 103,596,610 (GRCm39) |
I279S |
possibly damaging |
Het |
| Parp3 |
T |
C |
9: 106,352,069 (GRCm39) |
|
probably null |
Het |
| Pcdhga1 |
A |
T |
18: 37,796,376 (GRCm39) |
Y460F |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,725,311 (GRCm39) |
T1390A |
unknown |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pex6 |
T |
C |
17: 47,023,060 (GRCm39) |
L212P |
possibly damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Ppib |
T |
C |
9: 65,968,755 (GRCm39) |
F48L |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,793,583 (GRCm39) |
E1228G |
probably benign |
Het |
| Ptpdc1 |
G |
T |
13: 48,751,390 (GRCm39) |
H37N |
probably benign |
Het |
| Rab31 |
A |
T |
17: 66,003,269 (GRCm39) |
I126N |
possibly damaging |
Het |
| Rsad2 |
A |
T |
12: 26,506,405 (GRCm39) |
V5E |
probably benign |
Het |
| S1pr3 |
G |
A |
13: 51,573,173 (GRCm39) |
S118N |
probably damaging |
Het |
| Sbsn |
T |
A |
7: 30,451,366 (GRCm39) |
I127N |
possibly damaging |
Het |
| Scart2 |
C |
T |
7: 139,876,231 (GRCm39) |
Q568* |
probably null |
Het |
| Selenoh |
G |
T |
2: 84,500,691 (GRCm39) |
Q50K |
probably damaging |
Het |
| Simc1 |
GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA |
GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA |
13: 54,673,177 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,841,515 (GRCm39) |
I487L |
probably benign |
Het |
| Tep1 |
T |
A |
14: 51,085,162 (GRCm39) |
I874F |
possibly damaging |
Het |
| Tmem43 |
T |
C |
6: 91,455,746 (GRCm39) |
V119A |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,007,550 (GRCm39) |
W509R |
probably damaging |
Het |
| Xpr1 |
A |
C |
1: 155,189,001 (GRCm39) |
Y290* |
probably null |
Het |
| Zfp160 |
T |
C |
17: 21,246,313 (GRCm39) |
C288R |
probably damaging |
Het |
| Zfp955a |
C |
T |
17: 33,463,087 (GRCm39) |
V15M |
probably damaging |
Het |
|
| Other mutations in Pabpc1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00480:Pabpc1l
|
APN |
2 |
163,884,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00911:Pabpc1l
|
APN |
2 |
163,884,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:Pabpc1l
|
APN |
2 |
163,886,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02198:Pabpc1l
|
APN |
2 |
163,869,536 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02534:Pabpc1l
|
APN |
2 |
163,869,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02684:Pabpc1l
|
APN |
2 |
163,873,197 (GRCm39) |
missense |
probably benign |
|
|
R0371:Pabpc1l
|
UTSW |
2 |
163,877,192 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0799:Pabpc1l
|
UTSW |
2 |
163,873,134 (GRCm39) |
missense |
probably benign |
|
|
R1202:Pabpc1l
|
UTSW |
2 |
163,879,091 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1203:Pabpc1l
|
UTSW |
2 |
163,879,091 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1548:Pabpc1l
|
UTSW |
2 |
163,879,091 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1549:Pabpc1l
|
UTSW |
2 |
163,879,091 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1687:Pabpc1l
|
UTSW |
2 |
163,886,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1928:Pabpc1l
|
UTSW |
2 |
163,874,174 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2698:Pabpc1l
|
UTSW |
2 |
163,886,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3925:Pabpc1l
|
UTSW |
2 |
163,869,596 (GRCm39) |
splice site |
probably benign |
|
|
R3944:Pabpc1l
|
UTSW |
2 |
163,884,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4052:Pabpc1l
|
UTSW |
2 |
163,885,533 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4793:Pabpc1l
|
UTSW |
2 |
163,869,542 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5001:Pabpc1l
|
UTSW |
2 |
163,884,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5104:Pabpc1l
|
UTSW |
2 |
163,885,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5456:Pabpc1l
|
UTSW |
2 |
163,869,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5569:Pabpc1l
|
UTSW |
2 |
163,885,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5853:Pabpc1l
|
UTSW |
2 |
163,891,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5857:Pabpc1l
|
UTSW |
2 |
163,886,175 (GRCm39) |
splice site |
probably null |
|
|
R7107:Pabpc1l
|
UTSW |
2 |
163,884,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7650:Pabpc1l
|
UTSW |
2 |
163,891,510 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8336:Pabpc1l
|
UTSW |
2 |
163,874,204 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9179:Pabpc1l
|
UTSW |
2 |
163,873,140 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9355:Pabpc1l
|
UTSW |
2 |
163,884,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9381:Pabpc1l
|
UTSW |
2 |
163,867,423 (GRCm39) |
missense |
probably benign |
|
|
T0722:Pabpc1l
|
UTSW |
2 |
163,884,340 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1088:Pabpc1l
|
UTSW |
2 |
163,874,244 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACGGGCACTAGACACAATG -3'
(R):5'- ACTAAATGTATGGGCTGACAGC -3'
Sequencing Primer
(F):5'- CGGGCACTAGACACAATGAACTTTG -3'
(R):5'- TTACACACCGAGATCGAGCTGTTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation