Incidental Mutation 'R3414:Pla2g4f'
| ID |
266714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g4f
|
| Ensembl Gene |
ENSMUSG00000046971 |
| Gene Name |
phospholipase A2, group IVF |
| Synonyms |
4732472I07Rik, Pla2zeta |
| MMRRC Submission |
040632-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R3414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120130438-120144646 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120133587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 579
(S579G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054651]
|
| AlphaFold |
Q50L41 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054651
AA Change: S579G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062607
Gene: ENSMUSG00000046971
AA Change: S579G
| 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
|
| Meta Mutation Damage Score |
0.0934 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,559 (GRCm39) |
Q802L |
probably benign |
Het |
| Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,533,129 (GRCm39) |
T261K |
possibly damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,389,204 (GRCm39) |
V1178A |
probably benign |
Het |
| Ddx18 |
T |
C |
1: 121,489,878 (GRCm39) |
N177S |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,083,807 (GRCm39) |
K621E |
probably damaging |
Het |
| Eef2 |
G |
T |
10: 81,013,692 (GRCm39) |
R66L |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,108,179 (GRCm39) |
|
probably benign |
Het |
| Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,524,771 (GRCm39) |
D234E |
possibly damaging |
Het |
| Ifi202b |
A |
G |
1: 173,791,479 (GRCm39) |
S400P |
probably benign |
Het |
| Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
| Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
| Il7 |
G |
T |
3: 7,641,093 (GRCm39) |
Q67K |
probably benign |
Het |
| Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
| Klk1b26 |
A |
G |
7: 43,666,297 (GRCm39) |
I247V |
probably benign |
Het |
| Klrc1 |
A |
G |
6: 129,654,726 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,044,598 (GRCm39) |
C166R |
probably damaging |
Het |
| Mrps5 |
A |
G |
2: 127,438,832 (GRCm39) |
D219G |
probably benign |
Het |
| Mtus1 |
T |
C |
8: 41,501,100 (GRCm39) |
T806A |
probably damaging |
Het |
| Naip2 |
G |
A |
13: 100,325,771 (GRCm39) |
R46* |
probably null |
Het |
| Nos2 |
A |
T |
11: 78,848,414 (GRCm39) |
Y1107F |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,190,047 (GRCm39) |
I135T |
probably damaging |
Het |
| Or13c7b |
C |
T |
4: 43,821,258 (GRCm39) |
M34I |
probably benign |
Het |
| Or2d4 |
G |
T |
7: 106,543,383 (GRCm39) |
S275* |
probably null |
Het |
| Or6c65 |
A |
G |
10: 129,604,301 (GRCm39) |
H312R |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,158,142 (GRCm39) |
S252R |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,256,738 (GRCm39) |
T310S |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,386,305 (GRCm39) |
L227Q |
probably damaging |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Sec24a |
T |
A |
11: 51,620,285 (GRCm39) |
N456Y |
probably damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Spata13 |
A |
G |
14: 60,944,172 (GRCm39) |
T522A |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,529,025 (GRCm39) |
N573S |
probably benign |
Het |
| Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,234,658 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
A |
C |
1: 192,810,810 (GRCm39) |
S64R |
possibly damaging |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,696 (GRCm39) |
M205K |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,468,883 (GRCm39) |
K3014E |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCGTAACTTTGGCCAGTC -3'
(R):5'- TGGCTCTGAATTCTTCATGGGC -3'
Sequencing Primer
(F):5'- AACTTTGGCCAGTCATCTAGG -3'
(R):5'- TGCATTTCTGGCCAGAGC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation