Incidental Mutation 'R1202:Pabpc1l'
| ID |
100180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pabpc1l
|
| Ensembl Gene |
ENSMUSG00000054582 |
| Gene Name |
poly(A) binding protein, cytoplasmic 1-like |
| Synonyms |
1810053B01Rik, ePAB |
| MMRRC Submission |
039272-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1202 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
163867370-163892458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 163879091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 313
(V313F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067715]
|
| AlphaFold |
A2A5N3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067715
AA Change: V313F
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582
AA Change: V313F
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156087
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 86.8%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
C |
4: 144,250,236 (GRCm39) |
F137L |
probably benign |
Het |
| Cct3 |
T |
C |
3: 88,225,835 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
A |
G |
19: 6,980,850 (GRCm39) |
F294L |
probably damaging |
Het |
| Fmn2 |
A |
T |
1: 174,440,101 (GRCm39) |
K58* |
probably null |
Het |
| Fndc5 |
G |
A |
4: 129,033,238 (GRCm39) |
V102M |
probably damaging |
Het |
| Gle1 |
C |
T |
2: 29,839,277 (GRCm39) |
A523V |
probably damaging |
Het |
| Hoxd11 |
C |
T |
2: 74,512,921 (GRCm39) |
A62V |
possibly damaging |
Het |
| Il23r |
A |
G |
6: 67,455,937 (GRCm39) |
V177A |
possibly damaging |
Het |
| Impdh2 |
G |
A |
9: 108,440,386 (GRCm39) |
R224Q |
probably damaging |
Het |
| Larp4b |
A |
G |
13: 9,216,362 (GRCm39) |
T516A |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,714,748 (GRCm39) |
Y431H |
probably benign |
Het |
| N4bp1 |
T |
C |
8: 87,571,515 (GRCm39) |
T828A |
probably benign |
Het |
| Nphp4 |
G |
A |
4: 152,573,186 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Pacs1 |
G |
A |
19: 5,185,265 (GRCm39) |
P885S |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,336,491 (GRCm39) |
N705S |
probably benign |
Het |
| Sema4g |
G |
T |
19: 44,986,696 (GRCm39) |
R383L |
probably benign |
Het |
| Slc26a10 |
A |
G |
10: 127,009,217 (GRCm39) |
L648P |
probably damaging |
Het |
| St8sia2 |
A |
T |
7: 73,621,783 (GRCm39) |
V37E |
probably benign |
Het |
| Tmem209 |
C |
G |
6: 30,508,789 (GRCm39) |
V6L |
probably benign |
Het |
| Tmprss11a |
T |
A |
5: 86,559,784 (GRCm39) |
|
probably null |
Het |
| Ube2o |
C |
T |
11: 116,432,408 (GRCm39) |
D853N |
probably damaging |
Het |
| Usp17lb |
G |
A |
7: 104,491,695 (GRCm39) |
S6F |
probably damaging |
Het |
| Vmn2r74 |
G |
A |
7: 85,610,545 (GRCm39) |
T49I |
possibly damaging |
Het |
| Zfp236 |
T |
A |
18: 82,646,291 (GRCm39) |
T1041S |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGGTGGGCAAAGCACAACC -3'
(R):5'- AACCCAAAGTCTCTGGAAGCTAACG -3'
Sequencing Primer
(F):5'- ATGGTCCCCCTGTGTGAAAG -3'
(R):5'- TGTACAGGGTTAAGAACCTGG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation