Incidental Mutation 'R8999:Pabpc4l'
ID |
684850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pabpc4l
|
Ensembl Gene |
ENSMUSG00000090919 |
Gene Name |
poly(A) binding protein, cytoplasmic 4-like |
Synonyms |
C330050A14Rik, EG241989 |
MMRRC Submission |
068830-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8999 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
46396632-46402654 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 46400783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 287
(I287S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126224
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166505]
[ENSMUST00000192793]
[ENSMUST00000195436]
[ENSMUST00000195537]
|
AlphaFold |
G5E8X2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000166505
AA Change: I287S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000126224 Gene: ENSMUSG00000090919 AA Change: I287S
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: ENSMUST00000192793
AA Change: I287S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000141300 Gene: ENSMUSG00000090919 AA Change: I287S
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aipl1 |
T |
C |
11: 71,921,083 (GRCm39) |
E245G |
possibly damaging |
Het |
Cd6 |
A |
T |
19: 10,776,642 (GRCm39) |
C128S |
probably damaging |
Het |
Cep41 |
T |
C |
6: 30,666,165 (GRCm39) |
D98G |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,818,137 (GRCm39) |
K525E |
probably damaging |
Het |
Ddx10 |
T |
C |
9: 53,140,534 (GRCm39) |
E289G |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,018,235 (GRCm39) |
T1428A |
probably benign |
Het |
Dsg3 |
T |
C |
18: 20,666,684 (GRCm39) |
L631P |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,461,271 (GRCm39) |
C187S |
probably benign |
Het |
Efcab3 |
A |
T |
11: 104,640,477 (GRCm39) |
M1072L |
probably benign |
Het |
Fap |
T |
C |
2: 62,367,368 (GRCm39) |
H338R |
probably benign |
Het |
Fxyd2 |
T |
C |
9: 45,314,295 (GRCm39) |
|
probably benign |
Het |
Gabrg1 |
T |
A |
5: 70,973,378 (GRCm39) |
I59F |
probably benign |
Het |
Glb1l3 |
A |
T |
9: 26,764,914 (GRCm39) |
|
probably null |
Het |
Gpr27 |
T |
C |
6: 99,669,776 (GRCm39) |
I46T |
possibly damaging |
Het |
Igkv8-26 |
C |
A |
6: 70,170,514 (GRCm39) |
A35E |
probably benign |
Het |
Ikzf1 |
A |
G |
11: 11,635,013 (GRCm39) |
|
probably benign |
Het |
Krt18 |
A |
C |
15: 101,939,874 (GRCm39) |
E357D |
probably damaging |
Het |
Lbr |
C |
T |
1: 181,646,512 (GRCm39) |
G470E |
probably damaging |
Het |
Map2 |
A |
T |
1: 66,452,473 (GRCm39) |
K454N |
possibly damaging |
Het |
Map2k3 |
T |
C |
11: 60,840,817 (GRCm39) |
V282A |
|
Het |
Men1 |
G |
A |
19: 6,389,960 (GRCm39) |
V538I |
probably benign |
Het |
Mfn1 |
T |
A |
3: 32,623,683 (GRCm39) |
M621K |
possibly damaging |
Het |
Mpdz |
C |
A |
4: 81,202,882 (GRCm39) |
G1838* |
probably null |
Het |
Msantd5f9 |
G |
C |
4: 73,837,420 (GRCm39) |
N99K |
probably damaging |
Het |
Mypn |
A |
T |
10: 62,998,050 (GRCm39) |
L420* |
probably null |
Het |
Nkx6-1 |
T |
C |
5: 101,812,082 (GRCm39) |
M7V |
unknown |
Het |
Notum |
G |
A |
11: 120,545,207 (GRCm39) |
H451Y |
probably benign |
Het |
Odad2 |
C |
A |
18: 7,211,574 (GRCm39) |
V767L |
possibly damaging |
Het |
Or11i1 |
A |
T |
3: 106,728,999 (GRCm39) |
I292N |
probably damaging |
Het |
Or2b28 |
A |
G |
13: 21,531,988 (GRCm39) |
K297E |
probably damaging |
Het |
Or6c3 |
A |
G |
10: 129,309,386 (GRCm39) |
N275S |
probably benign |
Het |
Pcdha2 |
C |
T |
18: 37,073,428 (GRCm39) |
T353M |
possibly damaging |
Het |
Plekha1 |
T |
C |
7: 130,510,199 (GRCm39) |
I315T |
unknown |
Het |
Ppp2r2b |
C |
T |
18: 42,870,993 (GRCm39) |
A106T |
probably benign |
Het |
Prkch |
T |
C |
12: 73,742,973 (GRCm39) |
V209A |
probably damaging |
Het |
Ptprc |
A |
G |
1: 138,028,930 (GRCm39) |
C284R |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,083,671 (GRCm39) |
V804A |
probably benign |
Het |
Rbp3 |
C |
T |
14: 33,684,360 (GRCm39) |
R1130* |
probably null |
Het |
Serpina6 |
C |
G |
12: 103,617,988 (GRCm39) |
R275P |
probably damaging |
Het |
Six3 |
T |
A |
17: 85,931,164 (GRCm39) |
H273Q |
probably benign |
Het |
Stk35 |
C |
A |
2: 129,652,509 (GRCm39) |
P337T |
probably damaging |
Het |
Supt5 |
A |
G |
7: 28,037,848 (GRCm39) |
S2P |
unknown |
Het |
Tnik |
A |
G |
3: 28,719,920 (GRCm39) |
Y1264C |
probably damaging |
Het |
Trim45 |
A |
G |
3: 100,838,960 (GRCm39) |
T621A |
unknown |
Het |
Tyrp1 |
T |
C |
4: 80,763,094 (GRCm39) |
L327P |
probably damaging |
Het |
Vmn2r69 |
A |
C |
7: 85,060,307 (GRCm39) |
S426A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCGTTCATCTCAGCCATTG -3'
(R):5'- TGATGAAAGATGCCACTGGG -3'
Sequencing Primer
(F):5'- GCCATTGCTTTCGCCGC -3'
(R):5'- CACTGGGAAGTCCAAAGGCTTTG -3'
|
Posted On |
2021-10-11 |