Incidental Mutation 'IGL01727:Pabpc4l'
ID |
105312 |
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 # |
IGL01727
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
46396632-46402654 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 46401100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 181
(E181D)
|
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: E181D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126224 Gene: ENSMUSG00000090919 AA Change: E181D
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: E181D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141300 Gene: ENSMUSG00000090919 AA Change: E181D
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
C |
T |
11: 46,012,380 (GRCm39) |
A292V |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,488,597 (GRCm39) |
L1354P |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,112,387 (GRCm39) |
C720* |
probably null |
Het |
Aqp5 |
T |
C |
15: 99,489,502 (GRCm39) |
L117P |
probably damaging |
Het |
Ccn3 |
G |
A |
15: 54,609,634 (GRCm39) |
A45T |
probably benign |
Het |
Col9a3 |
T |
C |
2: 180,258,358 (GRCm39) |
|
probably null |
Het |
Ctrc |
T |
C |
4: 141,571,072 (GRCm39) |
Y56C |
probably damaging |
Het |
Dsc2 |
T |
A |
18: 20,171,257 (GRCm39) |
T581S |
probably benign |
Het |
Grap2 |
T |
C |
15: 80,518,610 (GRCm39) |
I51T |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,787,554 (GRCm39) |
Y1737C |
probably damaging |
Het |
Hook3 |
A |
G |
8: 26,560,187 (GRCm39) |
M346T |
probably benign |
Het |
Lancl1 |
C |
T |
1: 67,060,101 (GRCm39) |
C108Y |
probably damaging |
Het |
Lpin2 |
T |
C |
17: 71,553,447 (GRCm39) |
C824R |
probably damaging |
Het |
Mlip |
T |
C |
9: 77,147,030 (GRCm39) |
S88G |
probably damaging |
Het |
Mtdh |
T |
G |
15: 34,083,255 (GRCm39) |
L25R |
probably damaging |
Het |
Musk |
A |
G |
4: 58,303,887 (GRCm39) |
I177V |
probably benign |
Het |
Obi1 |
G |
A |
14: 104,716,823 (GRCm39) |
R517* |
probably null |
Het |
Or12e13 |
T |
C |
2: 87,663,844 (GRCm39) |
S154P |
probably damaging |
Het |
Or4c100 |
A |
G |
2: 88,356,271 (GRCm39) |
M115V |
probably benign |
Het |
Or9i16 |
A |
G |
19: 13,865,242 (GRCm39) |
C111R |
probably damaging |
Het |
Pcdh18 |
A |
G |
3: 49,710,149 (GRCm39) |
S389P |
probably damaging |
Het |
Ptk7 |
A |
G |
17: 46,883,474 (GRCm39) |
Y864H |
probably damaging |
Het |
Rbp4 |
A |
G |
19: 38,112,500 (GRCm39) |
V155A |
probably benign |
Het |
Rilpl1 |
C |
T |
5: 124,669,007 (GRCm39) |
A14T |
possibly damaging |
Het |
Rnf148 |
T |
A |
6: 23,655,001 (GRCm39) |
|
probably benign |
Het |
Ska2 |
T |
A |
11: 87,006,973 (GRCm39) |
L26Q |
probably damaging |
Het |
Slc29a2 |
T |
A |
19: 5,076,486 (GRCm39) |
F125I |
probably damaging |
Het |
Smap2 |
A |
G |
4: 120,839,405 (GRCm39) |
|
probably benign |
Het |
St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
Supt7l |
A |
G |
5: 31,677,686 (GRCm39) |
V160A |
possibly damaging |
Het |
Susd1 |
A |
G |
4: 59,412,329 (GRCm39) |
|
probably benign |
Het |
Syne1 |
T |
C |
10: 4,997,842 (GRCm39) |
D375G |
probably damaging |
Het |
Thoc2l |
A |
G |
5: 104,667,379 (GRCm39) |
T634A |
probably benign |
Het |
Tpst2 |
G |
A |
5: 112,457,724 (GRCm39) |
D351N |
probably damaging |
Het |
Trcg1 |
T |
C |
9: 57,149,556 (GRCm39) |
I376T |
probably benign |
Het |
Trcg1 |
T |
A |
9: 57,149,877 (GRCm39) |
I483N |
probably damaging |
Het |
Tsga10 |
T |
C |
1: 37,874,355 (GRCm39) |
E148G |
probably damaging |
Het |
Zranb1 |
G |
T |
7: 132,568,349 (GRCm39) |
D336Y |
probably 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 |
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 |
2014-01-21 |