Incidental Mutation 'R9669:Pabpc4l'
| ID |
727966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pabpc4l
|
| Ensembl Gene |
ENSMUSG00000090919 |
| Gene Name |
poly(A) binding protein, cytoplasmic 4-like |
| Synonyms |
C330050A14Rik, EG241989 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9669 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
46396632-46402654 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46401267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 126
(S126P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166505]
[ENSMUST00000192793]
[ENSMUST00000195436]
[ENSMUST00000195537]
|
| AlphaFold |
G5E8X2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166505
AA Change: S126P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126224
Gene: ENSMUSG00000090919
AA Change: S126P
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
11 |
84 |
3.4e-17 |
SMART |
|
RRM
|
99 |
170 |
4.22e-22 |
SMART |
|
RRM
|
191 |
263 |
2.44e-27 |
SMART |
|
RRM
|
294 |
365 |
7.24e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192793
AA Change: S126P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141300
Gene: ENSMUSG00000090919
AA Change: S126P
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
11 |
84 |
3.4e-17 |
SMART |
|
RRM
|
99 |
170 |
4.22e-22 |
SMART |
|
RRM
|
191 |
263 |
2.44e-27 |
SMART |
|
RRM
|
294 |
365 |
7.24e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195436
AA Change: S126P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141684
Gene: ENSMUSG00000090919
AA Change: S126P
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
11 |
84 |
1.5e-19 |
SMART |
|
RRM
|
99 |
170 |
1.8e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195537
|
| SMART Domains |
Protein: ENSMUSP00000141854
Gene: ENSMUSG00000090919
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_1
|
12 |
51 |
8.9e-9 |
PFAM |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
T |
C |
2: 168,026,918 (GRCm39) |
K126E |
possibly damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,587,797 (GRCm39) |
N112S |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Ccnjl |
C |
A |
11: 43,476,166 (GRCm39) |
T263K |
probably benign |
Het |
| Cfhr4 |
A |
T |
1: 139,708,872 (GRCm39) |
I12N |
probably damaging |
Het |
| Cox4i2 |
C |
A |
2: 152,602,610 (GRCm39) |
N101K |
probably damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dhx57 |
T |
C |
17: 80,553,130 (GRCm39) |
I1266V |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,247,493 (GRCm39) |
D435G |
possibly damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,408,794 (GRCm39) |
Y702H |
probably damaging |
Het |
| Igkv10-96 |
T |
C |
6: 68,608,957 (GRCm39) |
T113A |
probably benign |
Het |
| Ngdn |
A |
G |
14: 55,259,339 (GRCm39) |
K161R |
possibly damaging |
Het |
| Or7d9 |
T |
A |
9: 20,197,160 (GRCm39) |
L63H |
probably damaging |
Het |
| Pcdhgc4 |
A |
G |
18: 37,949,241 (GRCm39) |
D219G |
probably damaging |
Het |
| Plek |
A |
G |
11: 16,944,775 (GRCm39) |
F85S |
probably benign |
Het |
| Sidt1 |
A |
G |
16: 44,102,243 (GRCm39) |
Y306H |
probably damaging |
Het |
| Trav13-1 |
A |
T |
14: 53,782,510 (GRCm39) |
T14S |
probably benign |
Het |
| Tst |
T |
C |
15: 78,289,853 (GRCm39) |
I61V |
probably benign |
Het |
| Txndc2 |
T |
C |
17: 65,945,583 (GRCm39) |
E198G |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,268,499 (GRCm39) |
I910V |
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,656,007 (GRCm39) |
V784A |
probably damaging |
Het |
| Zkscan5 |
A |
G |
5: 145,142,136 (GRCm39) |
H11R |
probably benign |
Het |
|
| Other mutations in Pabpc4l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Pabpc4l
|
APN |
3 |
46,401,507 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01594:Pabpc4l
|
APN |
3 |
46,401,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01727:Pabpc4l
|
APN |
3 |
46,401,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Pabpc4l
|
APN |
3 |
46,400,725 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02985:Pabpc4l
|
APN |
3 |
46,401,017 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03393:Pabpc4l
|
APN |
3 |
46,400,972 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0734:Pabpc4l
|
UTSW |
3 |
46,401,408 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1889:Pabpc4l
|
UTSW |
3 |
46,400,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1928:Pabpc4l
|
UTSW |
3 |
46,401,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Pabpc4l
|
UTSW |
3 |
46,401,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2119:Pabpc4l
|
UTSW |
3 |
46,401,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2124:Pabpc4l
|
UTSW |
3 |
46,401,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2238:Pabpc4l
|
UTSW |
3 |
46,401,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Pabpc4l
|
UTSW |
3 |
46,400,579 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4740:Pabpc4l
|
UTSW |
3 |
46,400,570 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4897:Pabpc4l
|
UTSW |
3 |
46,401,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Pabpc4l
|
UTSW |
3 |
46,400,597 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5310:Pabpc4l
|
UTSW |
3 |
46,401,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5532:Pabpc4l
|
UTSW |
3 |
46,401,044 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5734:Pabpc4l
|
UTSW |
3 |
46,401,124 (GRCm39) |
splice site |
probably null |
|
|
R6200:Pabpc4l
|
UTSW |
3 |
46,401,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Pabpc4l
|
UTSW |
3 |
46,401,345 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7401:Pabpc4l
|
UTSW |
3 |
46,401,024 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7401:Pabpc4l
|
UTSW |
3 |
46,400,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7554:Pabpc4l
|
UTSW |
3 |
46,401,549 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8321:Pabpc4l
|
UTSW |
3 |
46,400,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Pabpc4l
|
UTSW |
3 |
46,400,832 (GRCm39) |
nonsense |
probably null |
|
|
R8998:Pabpc4l
|
UTSW |
3 |
46,400,783 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8999:Pabpc4l
|
UTSW |
3 |
46,400,783 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9320:Pabpc4l
|
UTSW |
3 |
46,401,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9385:Pabpc4l
|
UTSW |
3 |
46,401,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9737:Pabpc4l
|
UTSW |
3 |
46,401,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTTGTCTCTGAGCTCAGC -3'
(R):5'- GGCTACGCCTATGTCAATTTTC -3'
Sequencing Primer
(F):5'- TGAGCTCAGCCTCCCGATC -3'
(R):5'- TCCAGGTTAATGATGCCCAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation