Incidental Mutation 'IGL03393:Pabpc4l'
ID |
421128 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pabpc4l
|
Ensembl Gene |
ENSMUSG00000090919 |
Gene Name |
poly(A) binding protein, cytoplasmic 4-like |
Synonyms |
C330050A14Rik, EG241989 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03393
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
46396632-46402654 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46400972 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 224
(D224G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141300
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166505]
[ENSMUST00000192793]
[ENSMUST00000195436]
[ENSMUST00000195537]
|
AlphaFold |
G5E8X2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166505
AA Change: D224G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126224 Gene: ENSMUSG00000090919 AA Change: D224G
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: D224G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141300 Gene: ENSMUSG00000090919 AA Change: D224G
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 benign
Transcript: ENSMUST00000195436
|
SMART Domains |
Protein: ENSMUSP00000141684 Gene: ENSMUSG00000090919
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
G |
10: 86,909,902 (GRCm39) |
|
probably benign |
Het |
Adamts5 |
G |
T |
16: 85,665,083 (GRCm39) |
S627Y |
probably damaging |
Het |
Allc |
G |
A |
12: 28,610,010 (GRCm39) |
R196C |
probably damaging |
Het |
Ccdc65 |
A |
C |
15: 98,618,568 (GRCm39) |
E241A |
probably benign |
Het |
Dclk3 |
T |
C |
9: 111,317,741 (GRCm39) |
|
probably benign |
Het |
Fzd4 |
T |
C |
7: 89,056,505 (GRCm39) |
V184A |
probably benign |
Het |
Gfap |
T |
A |
11: 102,784,083 (GRCm39) |
|
probably null |
Het |
Gpr149 |
A |
G |
3: 62,511,366 (GRCm39) |
V211A |
probably benign |
Het |
Gprc6a |
A |
G |
10: 51,491,355 (GRCm39) |
I623T |
probably damaging |
Het |
Gucy2c |
T |
C |
6: 136,696,665 (GRCm39) |
T687A |
probably benign |
Het |
Kcnc4 |
T |
G |
3: 107,355,243 (GRCm39) |
M402L |
possibly damaging |
Het |
Ktn1 |
T |
C |
14: 47,928,391 (GRCm39) |
L584S |
probably damaging |
Het |
Mrgprb2 |
C |
T |
7: 48,202,650 (GRCm39) |
S25N |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,417,875 (GRCm39) |
V3607E |
probably benign |
Het |
Or4c58 |
C |
A |
2: 89,674,913 (GRCm39) |
V135L |
probably benign |
Het |
Or6c3b |
T |
C |
10: 129,527,147 (GRCm39) |
I254M |
probably damaging |
Het |
Otx2 |
A |
G |
14: 48,898,781 (GRCm39) |
I75T |
probably damaging |
Het |
Peg3 |
A |
T |
7: 6,710,648 (GRCm39) |
C1525S |
probably damaging |
Het |
Polq |
A |
T |
16: 36,865,156 (GRCm39) |
L669F |
probably damaging |
Het |
Prss40 |
A |
C |
1: 34,597,182 (GRCm39) |
V122G |
probably damaging |
Het |
Rims2 |
A |
G |
15: 39,326,009 (GRCm39) |
|
probably null |
Het |
Rrp12 |
A |
T |
19: 41,860,232 (GRCm39) |
M997K |
possibly damaging |
Het |
Sbno2 |
G |
A |
10: 79,902,735 (GRCm39) |
R414W |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,148,362 (GRCm39) |
D41G |
probably benign |
Het |
Serpinb1c |
A |
T |
13: 33,066,044 (GRCm39) |
D300E |
probably damaging |
Het |
Timeless |
G |
A |
10: 128,087,924 (GRCm39) |
D1165N |
probably damaging |
Het |
Tnpo1 |
T |
G |
13: 99,024,981 (GRCm39) |
K66N |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,963,912 (GRCm39) |
N629K |
possibly damaging |
Het |
Ubr4 |
T |
A |
4: 139,179,989 (GRCm39) |
L255M |
probably damaging |
Het |
Vmn1r10 |
T |
A |
6: 57,091,042 (GRCm39) |
Y211* |
probably null |
Het |
Vmn2r76 |
T |
G |
7: 85,879,034 (GRCm39) |
N422T |
probably benign |
Het |
Xylt1 |
C |
A |
7: 117,192,940 (GRCm39) |
N415K |
probably damaging |
Het |
Zfp786 |
A |
T |
6: 47,798,458 (GRCm39) |
V160E |
possibly damaging |
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 |
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 |
R9669:Pabpc4l
|
UTSW |
3 |
46,401,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R9737:Pabpc4l
|
UTSW |
3 |
46,401,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |