Incidental Mutation 'R4529:Pla2g4f'
| ID |
333023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4f
|
| Ensembl Gene |
ENSMUSG00000046971 |
| Gene Name |
phospholipase A2, group IVF |
| Synonyms |
4732472I07Rik, Pla2zeta |
| MMRRC Submission |
041592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R4529 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120130438-120144646 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120131100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 785
(R785Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054651]
|
| AlphaFold |
Q50L41 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054651
AA Change: R785Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000062607
Gene: ENSMUSG00000046971
AA Change: R785Q
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
45 |
144 |
7.51e-11 |
SMART |
|
PLAc
|
285 |
797 |
1.6e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142183
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,727,519 (GRCm39) |
Y483C |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,051,742 (GRCm39) |
N404D |
probably benign |
Het |
| Ankrd2 |
A |
T |
19: 42,032,240 (GRCm39) |
I231F |
probably benign |
Het |
| Apba1 |
A |
G |
19: 23,913,899 (GRCm39) |
N641D |
probably damaging |
Het |
| C1qbp |
T |
C |
11: 70,869,550 (GRCm39) |
T178A |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,939,592 (GRCm39) |
Y64C |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,608,962 (GRCm39) |
H281R |
probably benign |
Het |
| Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
| Fcamr |
A |
G |
1: 130,732,313 (GRCm39) |
H44R |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm5460 |
A |
C |
14: 33,767,769 (GRCm39) |
D459A |
probably damaging |
Het |
| H2-Q6 |
C |
T |
17: 35,644,820 (GRCm39) |
T203I |
probably null |
Het |
| Inmt |
T |
C |
6: 55,148,012 (GRCm39) |
M206V |
probably benign |
Het |
| Khdc3 |
T |
C |
9: 73,011,301 (GRCm39) |
S360P |
possibly damaging |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,458,355 (GRCm39) |
V312G |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,270,832 (GRCm39) |
L899P |
probably damaging |
Het |
| Or6c1b |
T |
C |
10: 129,273,287 (GRCm39) |
V202A |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pappa |
A |
G |
4: 65,149,419 (GRCm39) |
I920V |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,418,877 (GRCm39) |
V679E |
probably damaging |
Het |
| Plbd1 |
T |
A |
6: 136,628,823 (GRCm39) |
I82F |
probably benign |
Het |
| Plekhm3 |
A |
G |
1: 64,976,984 (GRCm39) |
V162A |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,411,274 (GRCm39) |
L919P |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,473,831 (GRCm39) |
|
probably null |
Het |
| Pou3f3 |
C |
A |
1: 42,737,714 (GRCm39) |
T470K |
probably benign |
Het |
| Prss38 |
T |
C |
11: 59,264,325 (GRCm39) |
Y214C |
probably damaging |
Het |
| Retreg1 |
T |
A |
15: 25,968,600 (GRCm39) |
Y109N |
probably damaging |
Het |
| Slco1c1 |
A |
G |
6: 141,500,907 (GRCm39) |
Y413C |
probably damaging |
Het |
| Stk32a |
T |
C |
18: 43,376,044 (GRCm39) |
C38R |
possibly damaging |
Het |
| Themis |
T |
C |
10: 28,658,331 (GRCm39) |
F453L |
possibly damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Xpo7 |
G |
A |
14: 70,906,188 (GRCm39) |
T986M |
probably damaging |
Het |
| Zfp51 |
C |
T |
17: 21,684,998 (GRCm39) |
L538F |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 726,511 (GRCm39) |
L418S |
possibly damaging |
Het |
|
| Other mutations in Pla2g4f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Pla2g4f
|
APN |
2 |
120,133,219 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01652:Pla2g4f
|
APN |
2 |
120,132,716 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02792:Pla2g4f
|
APN |
2 |
120,133,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:Pla2g4f
|
UTSW |
2 |
120,135,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Pla2g4f
|
UTSW |
2 |
120,144,547 (GRCm39) |
unclassified |
probably benign |
|
|
R1799:Pla2g4f
|
UTSW |
2 |
120,141,549 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2212:Pla2g4f
|
UTSW |
2 |
120,133,587 (GRCm39) |
missense |
probably benign |
|
|
R2351:Pla2g4f
|
UTSW |
2 |
120,130,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3412:Pla2g4f
|
UTSW |
2 |
120,133,587 (GRCm39) |
missense |
probably benign |
|
|
R3414:Pla2g4f
|
UTSW |
2 |
120,133,587 (GRCm39) |
missense |
probably benign |
|
|
R3906:Pla2g4f
|
UTSW |
2 |
120,130,980 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4084:Pla2g4f
|
UTSW |
2 |
120,142,806 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4477:Pla2g4f
|
UTSW |
2 |
120,134,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4606:Pla2g4f
|
UTSW |
2 |
120,144,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4685:Pla2g4f
|
UTSW |
2 |
120,135,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4728:Pla2g4f
|
UTSW |
2 |
120,131,402 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4782:Pla2g4f
|
UTSW |
2 |
120,133,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Pla2g4f
|
UTSW |
2 |
120,130,980 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5781:Pla2g4f
|
UTSW |
2 |
120,135,504 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6158:Pla2g4f
|
UTSW |
2 |
120,131,552 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6232:Pla2g4f
|
UTSW |
2 |
120,132,702 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6629:Pla2g4f
|
UTSW |
2 |
120,138,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6894:Pla2g4f
|
UTSW |
2 |
120,134,077 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6939:Pla2g4f
|
UTSW |
2 |
120,137,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Pla2g4f
|
UTSW |
2 |
120,135,035 (GRCm39) |
missense |
probably null |
0.01 |
|
R7221:Pla2g4f
|
UTSW |
2 |
120,131,476 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7421:Pla2g4f
|
UTSW |
2 |
120,137,737 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7767:Pla2g4f
|
UTSW |
2 |
120,135,490 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8466:Pla2g4f
|
UTSW |
2 |
120,130,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9389:Pla2g4f
|
UTSW |
2 |
120,132,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9425:Pla2g4f
|
UTSW |
2 |
120,133,264 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9500:Pla2g4f
|
UTSW |
2 |
120,142,713 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9657:Pla2g4f
|
UTSW |
2 |
120,135,138 (GRCm39) |
missense |
probably benign |
|
|
R9714:Pla2g4f
|
UTSW |
2 |
120,142,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTCATGTGATCAGCCCC -3'
(R):5'- GTGTCCACAATGAGCCATCTC -3'
Sequencing Primer
(F):5'- TGTGATCAGCCCCCAACC -3'
(R):5'- CAATGAGCCATCTCTTTCTAATGGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation