Incidental Mutation 'R5857:Pabpc1l'
| ID |
454940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pabpc1l
|
| Ensembl Gene |
ENSMUSG00000054582 |
| Gene Name |
poly(A) binding protein, cytoplasmic 1-like |
| Synonyms |
1810053B01Rik, ePAB |
| MMRRC Submission |
044069-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5857 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
163867370-163892458 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 163886175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067715]
[ENSMUST00000067715]
|
| AlphaFold |
A2A5N3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067715
|
| SMART Domains |
Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582
| 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 |
probably null
Transcript: ENSMUST00000067715
|
| SMART Domains |
Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582
| 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: ENSMUST00000126272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141671
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156087
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
95% (55/58) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,203,369 (GRCm39) |
I266V |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,039,736 (GRCm39) |
A492T |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,190,840 (GRCm39) |
C415S |
probably benign |
Het |
| Anxa3 |
T |
A |
5: 96,976,651 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
C |
12: 8,065,397 (GRCm39) |
V4089A |
probably benign |
Het |
| Arhgap23 |
C |
T |
11: 97,342,405 (GRCm39) |
A229V |
possibly damaging |
Het |
| Atad5 |
T |
C |
11: 80,022,155 (GRCm39) |
F1447L |
probably benign |
Het |
| Btbd8 |
T |
A |
5: 107,609,398 (GRCm39) |
D212E |
probably damaging |
Het |
| Ccdc38 |
G |
T |
10: 93,398,695 (GRCm39) |
A58S |
possibly damaging |
Het |
| Cep112 |
T |
C |
11: 108,422,297 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
G |
A |
8: 11,475,442 (GRCm39) |
G622D |
probably damaging |
Het |
| Crhbp |
T |
A |
13: 95,578,740 (GRCm39) |
Q134L |
probably benign |
Het |
| Ctnnbl1 |
T |
C |
2: 157,631,018 (GRCm39) |
S145P |
probably damaging |
Het |
| Cyp4f16 |
T |
A |
17: 32,755,998 (GRCm39) |
L9Q |
probably damaging |
Het |
| Dchs2 |
T |
G |
3: 83,177,620 (GRCm39) |
I891S |
possibly damaging |
Het |
| Disp3 |
A |
T |
4: 148,333,640 (GRCm39) |
V1066D |
probably benign |
Het |
| Dlgap1 |
A |
G |
17: 71,122,388 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,412,397 (GRCm39) |
C929S |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,483,239 (GRCm39) |
F82S |
probably damaging |
Het |
| Gk5 |
C |
A |
9: 96,001,508 (GRCm39) |
S2* |
probably null |
Het |
| Gpr135 |
G |
A |
12: 72,117,614 (GRCm39) |
A51V |
probably benign |
Het |
| Hoxa9 |
T |
A |
6: 52,201,277 (GRCm39) |
N255Y |
probably damaging |
Het |
| Igkv8-18 |
T |
C |
6: 70,332,904 (GRCm39) |
V15A |
probably benign |
Het |
| Ism2 |
T |
C |
12: 87,326,835 (GRCm39) |
D368G |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,530 (GRCm39) |
S146T |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,114,838 (GRCm39) |
L2329H |
probably damaging |
Het |
| Llgl2 |
T |
A |
11: 115,741,107 (GRCm39) |
I507N |
probably damaging |
Het |
| Lmna |
GCTGCCCACAC |
GC |
3: 88,389,838 (GRCm39) |
|
probably benign |
Het |
| Lrfn3 |
A |
T |
7: 30,058,863 (GRCm39) |
I454N |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,670,646 (GRCm39) |
T437K |
probably benign |
Het |
| Nat8f3 |
T |
C |
6: 85,738,735 (GRCm39) |
Y9C |
probably damaging |
Het |
| Niban2 |
T |
A |
2: 32,799,920 (GRCm39) |
N82K |
probably benign |
Het |
| Nlrp4d |
C |
A |
7: 10,116,304 (GRCm39) |
G156V |
noncoding transcript |
Het |
| Npnt |
A |
T |
3: 132,614,110 (GRCm39) |
C167S |
probably damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,635,496 (GRCm39) |
N199S |
possibly damaging |
Het |
| Or10x4 |
T |
G |
1: 174,218,674 (GRCm39) |
I13R |
possibly damaging |
Het |
| Or8b12i |
C |
T |
9: 20,082,535 (GRCm39) |
D111N |
probably damaging |
Het |
| Or8b37 |
T |
G |
9: 37,959,049 (GRCm39) |
V177G |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,176,848 (GRCm39) |
I366T |
probably benign |
Het |
| Prl7a1 |
A |
T |
13: 27,824,684 (GRCm39) |
D50E |
probably damaging |
Het |
| Rad52 |
T |
G |
6: 119,887,968 (GRCm39) |
|
probably null |
Het |
| Rbm19 |
T |
A |
5: 120,271,007 (GRCm39) |
L610Q |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Scube1 |
G |
T |
15: 83,491,461 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
G |
T |
7: 27,118,138 (GRCm39) |
R314S |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,042,331 (GRCm39) |
I1130K |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,818,981 (GRCm39) |
E1352G |
probably damaging |
Het |
| Ube2d2a |
A |
G |
18: 35,938,596 (GRCm39) |
T142A |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,128,014 (GRCm39) |
Y946H |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGATTTCTGTGCACCCTC -3'
(R):5'- GCCTGGTCAAAACTTACCTTCAC -3'
Sequencing Primer
(F):5'- GTGCACCCTCCTTAGGTCTAGG -3'
(R):5'- GGTCAAAACTTACCTTCACTGCCAAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation