Incidental Mutation 'IGL00984:Pabpc6'
ID |
29368 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pabpc6
|
Ensembl Gene |
ENSMUSG00000046173 |
Gene Name |
poly(A) binding protein, cytoplasmic 6 |
Synonyms |
4932702K14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
IGL00984
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
9885426-9888633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 9887618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 311
(L311H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057190]
|
AlphaFold |
Q9D4E6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057190
AA Change: L311H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050792 Gene: ENSMUSG00000046173 AA Change: L311H
Domain | Start | End | E-Value | Type |
RRM
|
12 |
85 |
1.78e-20 |
SMART |
RRM
|
100 |
171 |
2.54e-25 |
SMART |
RRM
|
192 |
264 |
1.08e-28 |
SMART |
RRM
|
305 |
376 |
7.57e-24 |
SMART |
low complexity region
|
500 |
511 |
N/A |
INTRINSIC |
PolyA
|
561 |
624 |
3.28e-34 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26b |
T |
A |
8: 43,973,410 (GRCm39) |
N531Y |
possibly damaging |
Het |
Adamts12 |
G |
A |
15: 11,215,696 (GRCm39) |
R239K |
probably benign |
Het |
Alppl2 |
T |
A |
1: 87,016,534 (GRCm39) |
H180L |
probably damaging |
Het |
Atp10a |
T |
C |
7: 58,308,489 (GRCm39) |
V96A |
probably damaging |
Het |
Atp2c1 |
T |
A |
9: 105,295,778 (GRCm39) |
I649F |
probably damaging |
Het |
Atp6v1h |
A |
G |
1: 5,165,905 (GRCm39) |
Y125C |
probably damaging |
Het |
Cds2 |
T |
C |
2: 132,140,441 (GRCm39) |
V213A |
probably benign |
Het |
Csnk1a1 |
A |
G |
18: 61,708,624 (GRCm39) |
|
probably benign |
Het |
Ctdspl2 |
C |
T |
2: 121,799,767 (GRCm39) |
|
probably benign |
Het |
Dohh |
G |
A |
10: 81,223,756 (GRCm39) |
|
probably null |
Het |
Dst |
A |
T |
1: 34,295,401 (GRCm39) |
D5971V |
probably damaging |
Het |
Focad |
G |
T |
4: 88,263,022 (GRCm39) |
M1006I |
unknown |
Het |
Garin5b |
C |
T |
7: 4,760,526 (GRCm39) |
V729M |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,376,546 (GRCm39) |
D1322G |
probably damaging |
Het |
Mcm3ap |
G |
T |
10: 76,335,400 (GRCm39) |
S1274I |
probably damaging |
Het |
Mrpl42 |
C |
T |
10: 95,326,202 (GRCm39) |
V97I |
probably benign |
Het |
Or4p21 |
A |
T |
2: 88,276,539 (GRCm39) |
F248I |
probably damaging |
Het |
Pdzrn3 |
A |
T |
6: 101,331,447 (GRCm39) |
S276T |
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,176,796 (GRCm39) |
C383* |
probably null |
Het |
Pik3r6 |
A |
G |
11: 68,424,445 (GRCm39) |
D350G |
probably benign |
Het |
Ptcd1 |
C |
T |
5: 145,102,239 (GRCm39) |
V27I |
probably benign |
Het |
Ranbp2 |
A |
T |
10: 58,297,786 (GRCm39) |
R398* |
probably null |
Het |
Rpl3l |
T |
C |
17: 24,954,445 (GRCm39) |
C336R |
probably damaging |
Het |
Rxfp2 |
T |
C |
5: 149,990,597 (GRCm39) |
S443P |
probably benign |
Het |
Sec24b |
T |
C |
3: 129,814,295 (GRCm39) |
|
probably benign |
Het |
Septin11 |
T |
C |
5: 93,310,043 (GRCm39) |
M282T |
possibly damaging |
Het |
Syt16 |
C |
T |
12: 74,269,604 (GRCm39) |
Q148* |
probably null |
Het |
Timm23 |
A |
G |
14: 31,902,612 (GRCm39) |
I177T |
probably benign |
Het |
Treh |
A |
G |
9: 44,594,264 (GRCm39) |
|
probably benign |
Het |
Vmn1r71 |
A |
G |
7: 10,482,046 (GRCm39) |
V214A |
probably damaging |
Het |
Zfp715 |
G |
A |
7: 42,949,208 (GRCm39) |
P251S |
probably benign |
Het |
|
Other mutations in Pabpc6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00591:Pabpc6
|
APN |
17 |
9,887,427 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01123:Pabpc6
|
APN |
17 |
9,887,076 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01301:Pabpc6
|
APN |
17 |
9,886,899 (GRCm39) |
missense |
probably benign |
|
IGL02347:Pabpc6
|
APN |
17 |
9,887,993 (GRCm39) |
missense |
probably benign |
0.03 |
ANU18:Pabpc6
|
UTSW |
17 |
9,886,899 (GRCm39) |
missense |
probably benign |
|
R0022:Pabpc6
|
UTSW |
17 |
9,888,145 (GRCm39) |
missense |
probably benign |
0.19 |
R0022:Pabpc6
|
UTSW |
17 |
9,888,145 (GRCm39) |
missense |
probably benign |
0.19 |
R1593:Pabpc6
|
UTSW |
17 |
9,886,742 (GRCm39) |
missense |
probably damaging |
0.98 |
R1695:Pabpc6
|
UTSW |
17 |
9,887,003 (GRCm39) |
missense |
probably benign |
0.01 |
R3897:Pabpc6
|
UTSW |
17 |
9,888,056 (GRCm39) |
missense |
probably benign |
0.38 |
R3903:Pabpc6
|
UTSW |
17 |
9,888,083 (GRCm39) |
missense |
probably benign |
0.16 |
R4585:Pabpc6
|
UTSW |
17 |
9,888,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R5009:Pabpc6
|
UTSW |
17 |
9,887,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R5112:Pabpc6
|
UTSW |
17 |
9,888,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R5769:Pabpc6
|
UTSW |
17 |
9,886,772 (GRCm39) |
nonsense |
probably null |
|
R6174:Pabpc6
|
UTSW |
17 |
9,887,084 (GRCm39) |
missense |
probably benign |
|
R6488:Pabpc6
|
UTSW |
17 |
9,888,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R7140:Pabpc6
|
UTSW |
17 |
9,887,357 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7586:Pabpc6
|
UTSW |
17 |
9,887,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R8001:Pabpc6
|
UTSW |
17 |
9,888,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R8129:Pabpc6
|
UTSW |
17 |
9,887,427 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8211:Pabpc6
|
UTSW |
17 |
9,888,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R8393:Pabpc6
|
UTSW |
17 |
9,887,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R8792:Pabpc6
|
UTSW |
17 |
9,888,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R9036:Pabpc6
|
UTSW |
17 |
9,888,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R9147:Pabpc6
|
UTSW |
17 |
9,886,937 (GRCm39) |
missense |
probably benign |
|
R9148:Pabpc6
|
UTSW |
17 |
9,886,937 (GRCm39) |
missense |
probably benign |
|
R9255:Pabpc6
|
UTSW |
17 |
9,886,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R9799:Pabpc6
|
UTSW |
17 |
9,888,114 (GRCm39) |
missense |
probably damaging |
1.00 |
RF038:Pabpc6
|
UTSW |
17 |
9,887,044 (GRCm39) |
small deletion |
probably benign |
|
|
Posted On |
2013-04-17 |