Incidental Mutation 'R3903:Pabpc6'
| ID |
309281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pabpc6
|
| Ensembl Gene |
ENSMUSG00000046173 |
| Gene Name |
poly(A) binding protein, cytoplasmic 6 |
| Synonyms |
4932702K14Rik |
| MMRRC Submission |
040907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R3903 (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 9888083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 156
(E156G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057190]
|
| AlphaFold |
Q9D4E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057190
AA Change: E156G
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000050792
Gene: ENSMUSG00000046173
AA Change: E156G
| 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: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amd1 |
C |
T |
10: 40,166,453 (GRCm39) |
R210H |
probably benign |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Ap3m1 |
T |
C |
14: 21,086,732 (GRCm39) |
Y185C |
probably null |
Het |
| Calcrl |
T |
A |
2: 84,198,986 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
C |
T |
18: 22,156,152 (GRCm39) |
V573I |
possibly damaging |
Het |
| Cdh6 |
T |
C |
15: 13,042,661 (GRCm39) |
K499R |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Cyp4f40 |
C |
A |
17: 32,878,598 (GRCm39) |
R47S |
possibly damaging |
Het |
| Eif4a2 |
AG |
A |
16: 22,929,390 (GRCm39) |
|
probably null |
Het |
| Fsip2l |
T |
C |
X: 47,930,421 (GRCm39) |
N649S |
possibly damaging |
Het |
| Gm8180 |
T |
A |
14: 44,021,092 (GRCm39) |
R39W |
probably null |
Het |
| Golm1 |
T |
C |
13: 59,786,154 (GRCm39) |
Q346R |
probably damaging |
Het |
| Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
| Hormad2 |
A |
G |
11: 4,377,237 (GRCm39) |
|
probably benign |
Het |
| Hyal1 |
T |
C |
9: 107,456,171 (GRCm39) |
|
probably null |
Het |
| Kif12 |
A |
G |
4: 63,086,213 (GRCm39) |
V378A |
possibly damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,631,904 (GRCm39) |
S1276N |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,631,903 (GRCm39) |
S1276C |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or4f53 |
A |
T |
2: 111,088,114 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or7c70 |
T |
G |
10: 78,683,132 (GRCm39) |
I206L |
probably benign |
Het |
| Or8c20 |
C |
T |
9: 38,260,954 (GRCm39) |
Q186* |
probably null |
Het |
| Rorb |
A |
G |
19: 18,939,463 (GRCm39) |
Y155H |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,830 (GRCm39) |
K144* |
probably null |
Het |
| Scn1a |
A |
G |
2: 66,148,476 (GRCm39) |
I3T |
probably benign |
Het |
| Serpinb9 |
T |
C |
13: 33,194,793 (GRCm39) |
M183T |
possibly damaging |
Het |
| Wnk1 |
A |
G |
6: 119,926,012 (GRCm39) |
S1151P |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,338,380 (GRCm39) |
T207I |
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,781,001 (GRCm39) |
Y587C |
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 |
|
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'- CAAATCTGCCAAATAGATCCTGGAG -3'
(R):5'- GGTTCGCATCATGTGGTCTC -3'
Sequencing Primer
(F):5'- GCCAAATAGATCCTGGAGTCTCTC -3'
(R):5'- ATCATGTGGTCTCAGCGGGAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation