Incidental Mutation 'IGL00900:Pabpc4l'
ID |
27069 |
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 # |
IGL00900
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
46396632-46402654 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 46401507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 46
(I46F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141300
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166505]
[ENSMUST00000192793]
[ENSMUST00000195436]
[ENSMUST00000195537]
|
AlphaFold |
G5E8X2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166505
AA Change: I46F
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126224 Gene: ENSMUSG00000090919 AA Change: I46F
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 |
possibly damaging
Transcript: ENSMUST00000192793
AA Change: I46F
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141300 Gene: ENSMUSG00000090919 AA Change: I46F
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 |
possibly damaging
Transcript: ENSMUST00000195436
AA Change: I46F
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141684 Gene: ENSMUSG00000090919 AA Change: I46F
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
AA Change: I46F
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000141854 Gene: ENSMUSG00000090919 AA Change: I46F
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
C |
11: 84,361,383 (GRCm39) |
|
probably benign |
Het |
Agap3 |
G |
A |
5: 24,681,366 (GRCm39) |
|
probably benign |
Het |
Angptl2 |
A |
T |
2: 33,133,784 (GRCm39) |
M369L |
probably benign |
Het |
Arhgef11 |
A |
G |
3: 87,590,867 (GRCm39) |
D36G |
possibly damaging |
Het |
Ccnt1 |
A |
G |
15: 98,452,514 (GRCm39) |
V134A |
probably damaging |
Het |
Ces1e |
T |
C |
8: 93,944,245 (GRCm39) |
H191R |
probably damaging |
Het |
Dhh |
A |
G |
15: 98,796,101 (GRCm39) |
|
probably benign |
Het |
Edil3 |
C |
A |
13: 89,437,652 (GRCm39) |
H418N |
probably benign |
Het |
Fam161b |
T |
C |
12: 84,402,743 (GRCm39) |
I296V |
probably benign |
Het |
Focad |
T |
A |
4: 88,047,260 (GRCm39) |
N86K |
probably damaging |
Het |
Foxn1 |
C |
T |
11: 78,262,109 (GRCm39) |
G87S |
probably benign |
Het |
Glipr1l2 |
T |
C |
10: 111,933,887 (GRCm39) |
Y220H |
probably benign |
Het |
Hnrnpa1 |
A |
G |
15: 103,152,166 (GRCm39) |
|
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ipo11 |
T |
C |
13: 106,983,952 (GRCm39) |
M797V |
possibly damaging |
Het |
Itprid2 |
G |
A |
2: 79,490,822 (GRCm39) |
R980Q |
probably damaging |
Het |
Klhdc2 |
T |
A |
12: 69,350,308 (GRCm39) |
F118I |
probably benign |
Het |
Mtap |
T |
A |
4: 89,090,594 (GRCm39) |
Y221* |
probably null |
Het |
Myh2 |
T |
C |
11: 67,070,210 (GRCm39) |
V414A |
probably damaging |
Het |
Ncor2 |
A |
T |
5: 125,102,848 (GRCm39) |
Y1999N |
probably damaging |
Het |
Or5d39 |
A |
G |
2: 87,979,604 (GRCm39) |
F253S |
possibly damaging |
Het |
Oxsm |
A |
G |
14: 16,242,023 (GRCm38) |
S249P |
probably damaging |
Het |
Pcnx2 |
A |
G |
8: 126,589,975 (GRCm39) |
|
probably benign |
Het |
Rasal2 |
A |
G |
1: 157,239,499 (GRCm39) |
S4P |
possibly damaging |
Het |
Reln |
A |
G |
5: 22,185,115 (GRCm39) |
V1534A |
probably damaging |
Het |
Rnf138 |
T |
A |
18: 21,154,017 (GRCm39) |
D174E |
possibly damaging |
Het |
Sh3pxd2a |
T |
A |
19: 47,302,594 (GRCm39) |
N162Y |
probably benign |
Het |
Slc6a4 |
A |
T |
11: 76,914,006 (GRCm39) |
T519S |
probably benign |
Het |
Slfn9 |
A |
T |
11: 82,872,197 (GRCm39) |
C846* |
probably null |
Het |
Trip12 |
A |
G |
1: 84,702,485 (GRCm39) |
S1945P |
possibly damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,134,394 (GRCm39) |
F69L |
probably benign |
Het |
Zeb2 |
T |
C |
2: 44,887,287 (GRCm39) |
D545G |
probably damaging |
Het |
|
Other mutations in Pabpc4l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-04-17 |