Incidental Mutation 'R4052:Pabpc1l'
ID |
314186 |
Institutional Source |
Beutler Lab
|
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 # |
R4052 ()
|
Quality Score |
211 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
163867370-163892458 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 163885533 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 429
(W429R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096701
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067715]
|
AlphaFold |
A2A5N3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067715
AA Change: W429R
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000096701 Gene: ENSMUSG00000054582 AA Change: W429R
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.5%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
T |
G |
13: 119,624,738 (GRCm39) |
|
probably benign |
Het |
Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
Ace2 |
A |
G |
X: 162,952,581 (GRCm39) |
I110V |
probably benign |
Het |
Adam29 |
T |
C |
8: 56,325,317 (GRCm39) |
Y379C |
probably damaging |
Het |
Apol10a |
A |
T |
15: 77,373,185 (GRCm39) |
I274L |
probably benign |
Het |
BC005537 |
T |
A |
13: 24,993,881 (GRCm39) |
F119I |
possibly damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cts3 |
T |
A |
13: 61,716,535 (GRCm39) |
I34L |
probably benign |
Het |
Cyp4a30b |
A |
G |
4: 115,311,539 (GRCm39) |
D69G |
probably benign |
Het |
Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
Dhx30 |
A |
G |
9: 109,929,889 (GRCm39) |
V69A |
possibly damaging |
Het |
Dis3 |
T |
G |
14: 99,332,752 (GRCm39) |
I227L |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,850,995 (GRCm39) |
S836P |
probably damaging |
Het |
Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
Erap1 |
A |
G |
13: 74,823,459 (GRCm39) |
N831S |
probably benign |
Het |
Gimap3 |
T |
A |
6: 48,743,447 (GRCm39) |
T3S |
possibly damaging |
Het |
Gpr82 |
C |
T |
X: 13,531,898 (GRCm39) |
P149S |
probably damaging |
Het |
H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
Hcn2 |
A |
C |
10: 79,569,521 (GRCm39) |
|
probably null |
Het |
Helz2 |
A |
G |
2: 180,882,268 (GRCm39) |
L175P |
probably damaging |
Het |
Il36b |
T |
C |
2: 24,049,844 (GRCm39) |
F152L |
probably damaging |
Het |
Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
Lef1 |
A |
G |
3: 130,988,338 (GRCm39) |
N236D |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,365,810 (GRCm39) |
S1419P |
probably benign |
Het |
Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
Ncapd3 |
T |
A |
9: 27,000,679 (GRCm39) |
|
probably null |
Het |
Or52n3 |
A |
G |
7: 104,530,810 (GRCm39) |
T299A |
probably damaging |
Het |
P2rx7 |
T |
C |
5: 122,804,340 (GRCm39) |
F293S |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,678,771 (GRCm39) |
E399G |
probably benign |
Het |
Pde6h |
A |
G |
6: 136,936,266 (GRCm39) |
D3G |
unknown |
Het |
Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
Rasgrp3 |
T |
C |
17: 75,803,963 (GRCm39) |
F89L |
probably damaging |
Het |
Rif1 |
A |
T |
2: 51,988,483 (GRCm39) |
K741* |
probably null |
Het |
Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
Rnf207 |
C |
A |
4: 152,395,894 (GRCm39) |
Q533H |
probably benign |
Het |
Slc24a2 |
A |
G |
4: 87,145,442 (GRCm39) |
V204A |
probably damaging |
Het |
Spry2 |
A |
T |
14: 106,130,635 (GRCm39) |
C184S |
probably damaging |
Het |
Sulf2 |
T |
C |
2: 165,936,510 (GRCm39) |
Y152C |
probably damaging |
Het |
Thrap3 |
G |
A |
4: 126,070,012 (GRCm39) |
A625V |
probably damaging |
Het |
Tmem39a |
T |
A |
16: 38,406,650 (GRCm39) |
V329D |
probably damaging |
Het |
Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
Trim30b |
T |
A |
7: 104,006,685 (GRCm39) |
Q57L |
possibly damaging |
Het |
Uggt1 |
A |
G |
1: 36,203,570 (GRCm39) |
V1020A |
probably damaging |
Het |
Zfp941 |
T |
G |
7: 140,392,340 (GRCm39) |
K340Q |
possibly 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 |
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'- CTTCATGGAGGCCAGAGATG -3'
(R):5'- GGCCACACTATGTGTCTTTGTC -3'
Sequencing Primer
(F):5'- CATGGAGGCCAGAGATGTTTCC -3'
(R):5'- CATGAACATTTAGTCCCAAGTCAGG -3'
|
Posted On |
2015-04-30 |