Incidental Mutation 'R3897:Pabpc6'
| ID |
309027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pabpc6
|
| Ensembl Gene |
ENSMUSG00000046173 |
| Gene Name |
poly(A) binding protein, cytoplasmic 6 |
| Synonyms |
4932702K14Rik |
| MMRRC Submission |
040808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R3897 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
9885426-9888633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9888056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 165
(D165G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057190]
|
| AlphaFold |
Q9D4E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057190
AA Change: D165G
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000050792
Gene: ENSMUSG00000046173
AA Change: D165G
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,254,245 (GRCm39) |
H184R |
probably benign |
Het |
| Ap1g1 |
A |
G |
8: 110,581,631 (GRCm39) |
D633G |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,093,084 (GRCm39) |
R999H |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,273,988 (GRCm39) |
S341P |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,233,189 (GRCm39) |
E633G |
possibly damaging |
Het |
| Colgalt1 |
G |
A |
8: 72,072,306 (GRCm39) |
M275I |
probably damaging |
Het |
| Commd7 |
T |
C |
2: 153,464,710 (GRCm39) |
T23A |
probably benign |
Het |
| Cts3 |
A |
G |
13: 61,712,800 (GRCm39) |
Y307H |
probably benign |
Het |
| Dlgap4 |
C |
A |
2: 156,587,989 (GRCm39) |
P89Q |
probably damaging |
Het |
| Ecm1 |
A |
G |
3: 95,643,298 (GRCm39) |
L334P |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,214,939 (GRCm39) |
V674I |
possibly damaging |
Het |
| Gosr2 |
A |
G |
11: 103,588,472 (GRCm39) |
Y5H |
possibly damaging |
Het |
| Gria4 |
T |
A |
9: 4,513,260 (GRCm39) |
D283V |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Iqcm |
C |
T |
8: 76,480,028 (GRCm39) |
R329C |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,703,955 (GRCm39) |
C233R |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,581,011 (GRCm39) |
C391R |
probably damaging |
Het |
| Man2b1 |
G |
T |
8: 85,823,577 (GRCm39) |
|
probably benign |
Het |
| Mgat4f |
A |
G |
1: 134,318,176 (GRCm39) |
D316G |
possibly damaging |
Het |
| Nisch |
A |
G |
14: 30,912,957 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
G |
19: 6,569,287 (GRCm39) |
D1394E |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,153 (GRCm39) |
E102G |
probably benign |
Het |
| Or4k77 |
T |
C |
2: 111,199,106 (GRCm39) |
L43P |
possibly damaging |
Het |
| Psat1 |
A |
G |
19: 15,896,817 (GRCm39) |
|
probably null |
Het |
| Psd |
A |
C |
19: 46,313,024 (GRCm39) |
N115K |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rnf144a |
A |
G |
12: 26,360,712 (GRCm39) |
V275A |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,118,739 (GRCm39) |
F356L |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,087 (GRCm39) |
V364A |
probably benign |
Het |
| Tmem203 |
T |
C |
2: 25,145,935 (GRCm39) |
F85S |
probably benign |
Het |
| Tra2a |
T |
C |
6: 49,222,476 (GRCm39) |
|
probably benign |
Het |
| Ttc21b |
C |
T |
2: 66,065,413 (GRCm39) |
E454K |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTTTCAAAGCTTACGAATCC -3'
(R):5'- GATCCATTGACAGTAAAACGCTG -3'
Sequencing Primer
(F):5'- AGCTTACGAATCCGAATCCTTTGG -3'
(R):5'- AAACGCTGTATGATACGTTTTCTGCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation