Incidental Mutation 'R8001:Pabpc6'
| ID |
616375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pabpc6
|
| Ensembl Gene |
ENSMUSG00000046173 |
| Gene Name |
poly(A) binding protein, cytoplasmic 6 |
| Synonyms |
4932702K14Rik |
| MMRRC Submission |
046041-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R8001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
9885426-9888633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 9888302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 83
(R83L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057190]
|
| AlphaFold |
Q9D4E6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057190
AA Change: R83L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050792
Gene: ENSMUSG00000046173
AA Change: R83L
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
A |
G |
15: 89,458,165 (GRCm39) |
Y282C |
probably damaging |
Het |
| Alkbh4 |
A |
G |
5: 136,169,123 (GRCm39) |
R136G |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,938,166 (GRCm39) |
E2* |
probably null |
Het |
| Cse1l |
T |
A |
2: 166,781,833 (GRCm39) |
F659Y |
probably damaging |
Het |
| Ctrc |
A |
T |
4: 141,567,671 (GRCm39) |
L144Q |
probably damaging |
Het |
| Elmo1 |
A |
G |
13: 20,470,902 (GRCm39) |
I265V |
probably benign |
Het |
| Erich3 |
T |
C |
3: 154,419,553 (GRCm39) |
S19P |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,540,629 (GRCm39) |
C2893* |
probably null |
Het |
| Hnrnpll |
G |
A |
17: 80,346,152 (GRCm39) |
Q370* |
probably null |
Het |
| Itpkb |
T |
C |
1: 180,160,059 (GRCm39) |
S62P |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,682,902 (GRCm39) |
C501S |
probably benign |
Het |
| Mab21l4 |
A |
G |
1: 93,082,321 (GRCm39) |
L266P |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,395,964 (GRCm39) |
R64H |
possibly damaging |
Het |
| Ogfod2 |
T |
G |
5: 124,252,946 (GRCm39) |
C319G |
probably damaging |
Het |
| Or51h1 |
A |
T |
7: 102,308,241 (GRCm39) |
D71V |
probably damaging |
Het |
| Or5ac19 |
T |
C |
16: 59,089,472 (GRCm39) |
N186S |
probably benign |
Het |
| Or5b118 |
A |
G |
19: 13,448,786 (GRCm39) |
I109V |
probably benign |
Het |
| Or9k7 |
A |
G |
10: 130,046,729 (GRCm39) |
V90A |
probably benign |
Het |
| Pcdhgb2 |
A |
T |
18: 37,823,687 (GRCm39) |
Q226L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,460,600 (GRCm39) |
I1127F |
probably damaging |
Het |
| Psg22 |
A |
T |
7: 18,453,671 (GRCm39) |
Q161L |
possibly damaging |
Het |
| Slc17a7 |
A |
T |
7: 44,818,212 (GRCm39) |
T46S |
probably benign |
Het |
| Smad4 |
A |
G |
18: 73,774,881 (GRCm39) |
S473P |
probably damaging |
Het |
| Snap47 |
T |
A |
11: 59,329,180 (GRCm39) |
T41S |
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,628,657 (GRCm39) |
L100P |
probably benign |
Het |
| Stc1 |
T |
A |
14: 69,275,844 (GRCm39) |
N212K |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,448,209 (GRCm39) |
N396I |
possibly damaging |
Het |
| Stox2 |
G |
A |
8: 47,639,512 (GRCm39) |
P894L |
probably benign |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,284,744 (GRCm39) |
M1V |
probably null |
Het |
| Trim33 |
T |
C |
3: 103,218,831 (GRCm39) |
|
probably null |
Het |
| Tyrp1 |
T |
C |
4: 80,758,907 (GRCm39) |
V260A |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,643,261 (GRCm39) |
Y4208H |
probably damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,956,065 (GRCm39) |
K75* |
probably null |
Het |
| Vmn2r117 |
T |
A |
17: 23,698,381 (GRCm39) |
N64I |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,695,492 (GRCm39) |
|
probably null |
Het |
| Wnt8a |
A |
T |
18: 34,678,569 (GRCm39) |
I128F |
probably damaging |
Het |
| Zc3h7b |
C |
A |
15: 81,663,461 (GRCm39) |
Y484* |
probably null |
Het |
| Zfp619 |
A |
G |
7: 39,184,645 (GRCm39) |
K225R |
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 |
|
IGL00984:Pabpc6
|
APN |
17 |
9,887,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCTTGGAGCCATTCTCATC -3'
(R):5'- CTTTGCAGACATGAACCCCAG -3'
Sequencing Primer
(F):5'- TTGGAGCCATTCTCATCACACAC -3'
(R):5'- ACCGAGGCGATGCTCTATGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation