Incidental Mutation 'IGL00539:Pla2g4f'
| ID |
13692 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pla2g4f
|
| Ensembl Gene |
ENSMUSG00000046971 |
| Gene Name |
phospholipase A2, group IVF |
| Synonyms |
4732472I07Rik, Pla2zeta |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL00539
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
120130438-120144646 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120133219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 660
(H660R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054651]
|
| AlphaFold |
Q50L41 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054651
AA Change: H660R
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000062607
Gene: ENSMUSG00000046971
AA Change: H660R
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
C |
A |
19: 8,985,272 (GRCm39) |
D2185E |
possibly damaging |
Het |
| Camk2b |
A |
G |
11: 5,922,310 (GRCm39) |
S560P |
probably damaging |
Het |
| Cdh13 |
C |
A |
8: 120,039,245 (GRCm39) |
N562K |
possibly damaging |
Het |
| Cdhr4 |
A |
G |
9: 107,876,744 (GRCm39) |
Y771C |
probably damaging |
Het |
| Ermap |
A |
G |
4: 119,041,114 (GRCm39) |
S299P |
probably damaging |
Het |
| Fgd3 |
A |
G |
13: 49,429,119 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,188 (GRCm39) |
L65Q |
probably damaging |
Het |
| Hsph1 |
C |
T |
5: 149,542,254 (GRCm39) |
R723H |
possibly damaging |
Het |
| Iqcb1 |
A |
G |
16: 36,678,873 (GRCm39) |
K396E |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,821,504 (GRCm39) |
T1424A |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,279,588 (GRCm39) |
S700G |
possibly damaging |
Het |
| Mta3 |
G |
A |
17: 84,070,412 (GRCm39) |
R39Q |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,569,728 (GRCm39) |
T263S |
possibly damaging |
Het |
| Ncan |
G |
A |
8: 70,567,921 (GRCm39) |
P64S |
probably benign |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Polq |
A |
G |
16: 36,880,931 (GRCm39) |
T753A |
probably damaging |
Het |
| Ptchd4 |
C |
T |
17: 42,627,817 (GRCm39) |
Q93* |
probably null |
Het |
| Sfpq |
T |
C |
4: 126,917,481 (GRCm39) |
V437A |
possibly damaging |
Het |
| Slc18b1 |
G |
A |
10: 23,700,659 (GRCm39) |
|
probably null |
Het |
| Taf1c |
C |
T |
8: 120,328,067 (GRCm39) |
V277I |
possibly damaging |
Het |
| Tcf20 |
T |
A |
15: 82,736,957 (GRCm39) |
Q1498L |
probably benign |
Het |
| Tet1 |
C |
A |
10: 62,650,276 (GRCm39) |
C1644F |
probably damaging |
Het |
| Trmt5 |
T |
C |
12: 73,331,693 (GRCm39) |
E121G |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,416,965 (GRCm39) |
D525G |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,075,728 (GRCm39) |
T360A |
possibly damaging |
Het |
| Zfp292 |
G |
A |
4: 34,808,790 (GRCm39) |
P1418L |
probably damaging |
Het |
|
| Other mutations in Pla2g4f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4529:Pla2g4f
|
UTSW |
2 |
120,131,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation