Incidental Mutation 'IGL02534:Pabpc1l'
| ID |
297422 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pabpc1l
|
| Ensembl Gene |
ENSMUSG00000054582 |
| Gene Name |
poly(A) binding protein, cytoplasmic 1-like |
| Synonyms |
1810053B01Rik, ePAB |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02534
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
163867370-163892458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 163869410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 70
(D70G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067715]
|
| AlphaFold |
A2A5N3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067715
AA Change: D70G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582
AA Change: D70G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141671
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aggf1 |
C |
T |
13: 95,506,030 (GRCm39) |
E186K |
possibly damaging |
Het |
| Ajm1 |
G |
T |
2: 25,467,043 (GRCm39) |
S956* |
probably null |
Het |
| Anks1b |
A |
G |
10: 90,730,979 (GRCm39) |
I932V |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,609,526 (GRCm39) |
Y1361H |
probably damaging |
Het |
| Bcl9 |
G |
T |
3: 97,122,545 (GRCm39) |
L85M |
probably damaging |
Het |
| Bcl9l |
T |
G |
9: 44,417,036 (GRCm39) |
S291R |
probably benign |
Het |
| Cpa2 |
T |
A |
6: 30,550,767 (GRCm39) |
D201E |
probably benign |
Het |
| Efna5 |
A |
T |
17: 62,920,384 (GRCm39) |
C164* |
probably null |
Het |
| Fhip2b |
A |
T |
14: 70,823,128 (GRCm39) |
H642Q |
probably damaging |
Het |
| Fhip2b |
T |
A |
14: 70,823,630 (GRCm39) |
H580L |
probably benign |
Het |
| Gm6316 |
A |
G |
12: 69,967,763 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,229,500 (GRCm39) |
S57P |
probably damaging |
Het |
| Inf2 |
C |
A |
12: 112,576,930 (GRCm39) |
A968E |
unknown |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Mcm5 |
T |
A |
8: 75,840,861 (GRCm39) |
V222E |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,398,456 (GRCm39) |
Y287C |
unknown |
Het |
| Or12e9 |
T |
G |
2: 87,202,598 (GRCm39) |
S241A |
probably benign |
Het |
| Or13a24 |
A |
T |
7: 140,154,554 (GRCm39) |
M163L |
probably benign |
Het |
| Or14c39 |
G |
A |
7: 86,343,939 (GRCm39) |
V92M |
probably benign |
Het |
| Or8u10 |
A |
G |
2: 85,915,713 (GRCm39) |
M136T |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Ppp1r17 |
C |
A |
6: 56,003,445 (GRCm39) |
S86* |
probably null |
Het |
| Rasd1 |
A |
G |
11: 59,855,615 (GRCm39) |
M6T |
possibly damaging |
Het |
| Rsph14 |
C |
A |
10: 74,793,466 (GRCm39) |
V345F |
probably damaging |
Het |
| Slc11a2 |
T |
A |
15: 100,299,207 (GRCm39) |
Q121L |
probably benign |
Het |
| Smc5 |
A |
T |
19: 23,205,536 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
T |
C |
11: 105,725,994 (GRCm39) |
L386P |
probably damaging |
Het |
| Tmem9b |
A |
T |
7: 109,336,164 (GRCm39) |
L160Q |
probably damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,906 (GRCm39) |
T488A |
possibly damaging |
Het |
| Tubb1 |
A |
G |
2: 174,297,462 (GRCm39) |
I24V |
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,788,302 (GRCm39) |
|
probably null |
Het |
| Zfp263 |
T |
A |
16: 3,564,279 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R8330:Pabpc1l
|
UTSW |
2 |
163,869,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation