Incidental Mutation 'IGL02096:Pabpc1l'
| ID |
281129 |
| 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 # |
IGL02096
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
163867370-163892458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 163886267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 466
(V466I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067715]
|
| AlphaFold |
A2A5N3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067715
AA Change: V466I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582
AA Change: V466I
| 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 |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,993,359 (GRCm39) |
L1584P |
probably damaging |
Het |
| Abca9 |
G |
T |
11: 110,056,806 (GRCm39) |
H5N |
probably benign |
Het |
| Acox1 |
A |
T |
11: 116,069,024 (GRCm39) |
I371N |
probably damaging |
Het |
| Aopep |
C |
A |
13: 63,208,903 (GRCm39) |
A340E |
probably benign |
Het |
| Bmp5 |
A |
G |
9: 75,805,833 (GRCm39) |
N445S |
probably damaging |
Het |
| Cacna1b |
G |
T |
2: 24,568,927 (GRCm39) |
A999E |
probably benign |
Het |
| Cdc27 |
A |
T |
11: 104,419,394 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,308,349 (GRCm39) |
E2134G |
possibly damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,078,062 (GRCm39) |
N698S |
possibly damaging |
Het |
| Duox1 |
A |
T |
2: 122,174,655 (GRCm39) |
K1271M |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,599,254 (GRCm39) |
Y1870H |
possibly damaging |
Het |
| Edem3 |
A |
G |
1: 151,680,470 (GRCm39) |
T532A |
probably benign |
Het |
| Epx |
A |
T |
11: 87,760,294 (GRCm39) |
L440Q |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,699,791 (GRCm39) |
F432L |
probably benign |
Het |
| Fam185a |
C |
A |
5: 21,630,341 (GRCm39) |
P59Q |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,204 (GRCm39) |
D5979G |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,043,207 (GRCm39) |
S335P |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,258,284 (GRCm39) |
Q1262L |
probably damaging |
Het |
| Hmmr |
A |
T |
11: 40,598,256 (GRCm39) |
V652E |
probably benign |
Het |
| Iapp |
A |
T |
6: 142,249,199 (GRCm39) |
N84I |
probably benign |
Het |
| Katnip |
G |
A |
7: 125,413,993 (GRCm39) |
C379Y |
probably benign |
Het |
| Mmp17 |
C |
T |
5: 129,675,752 (GRCm39) |
Q304* |
probably null |
Het |
| Mpl |
T |
C |
4: 118,314,333 (GRCm39) |
T55A |
possibly damaging |
Het |
| Mst1r |
G |
A |
9: 107,794,478 (GRCm39) |
R1219H |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,117 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
C |
T |
14: 123,831,915 (GRCm39) |
V120I |
probably benign |
Het |
| Nt5dc1 |
A |
T |
10: 34,275,806 (GRCm39) |
C134* |
probably null |
Het |
| Obscn |
A |
C |
11: 58,971,530 (GRCm39) |
N2228K |
probably damaging |
Het |
| Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
| Osbpl10 |
T |
C |
9: 115,046,062 (GRCm39) |
M566T |
possibly damaging |
Het |
| Pdcd11 |
T |
G |
19: 47,094,860 (GRCm39) |
V548G |
probably benign |
Het |
| Prss27 |
G |
T |
17: 24,263,951 (GRCm39) |
K212N |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,297,789 (GRCm39) |
S399T |
probably damaging |
Het |
| Rgs19 |
A |
G |
2: 181,331,076 (GRCm39) |
S159P |
probably damaging |
Het |
| Sh2b1 |
A |
G |
7: 126,068,465 (GRCm39) |
S449P |
probably damaging |
Het |
| Slc6a18 |
T |
A |
13: 73,820,870 (GRCm39) |
Y238F |
probably benign |
Het |
| Stx11 |
T |
C |
10: 12,817,224 (GRCm39) |
I167V |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,371 (GRCm39) |
M300V |
possibly damaging |
Het |
| Synj2 |
A |
G |
17: 6,040,628 (GRCm39) |
T235A |
probably damaging |
Het |
| Ubxn2b |
T |
A |
4: 6,214,749 (GRCm39) |
I261N |
probably damaging |
Het |
| Vmn2r43 |
G |
A |
7: 8,260,512 (GRCm39) |
|
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,484,443 (GRCm39) |
M454T |
probably damaging |
Het |
| Vsig2 |
T |
A |
9: 37,451,251 (GRCm39) |
S51T |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,153,964 (GRCm39) |
|
probably benign |
Het |
| Wdr6 |
A |
C |
9: 108,453,752 (GRCm39) |
L44V |
probably damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,165,634 (GRCm39) |
Y5H |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,674,796 (GRCm39) |
Y587H |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,254 (GRCm39) |
K399N |
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 |
|
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 |
|
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