Incidental Mutation 'IGL03087:Pfpl'
ID |
418139 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pfpl
|
Ensembl Gene |
ENSMUSG00000040065 |
Gene Name |
pore forming protein-like |
Synonyms |
Epcs5, Epcs50 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
IGL03087
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
12405290-12409474 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12406241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 164
(N164S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168148]
|
AlphaFold |
Q5RKV8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168148
AA Change: N164S
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000126346 Gene: ENSMUSG00000040065 AA Change: N164S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
MACPF
|
144 |
343 |
6.26e-33 |
SMART |
transmembrane domain
|
643 |
665 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500035N22Rik |
C |
T |
5: 25,202,630 (GRCm39) |
|
probably benign |
Het |
Acbd5 |
A |
G |
2: 22,979,722 (GRCm39) |
T261A |
probably benign |
Het |
Ap1g2 |
G |
A |
14: 55,340,493 (GRCm39) |
T331I |
probably damaging |
Het |
Ap4m1 |
A |
G |
5: 138,173,066 (GRCm39) |
T150A |
probably benign |
Het |
Arid4a |
G |
T |
12: 71,122,019 (GRCm39) |
R478L |
possibly damaging |
Het |
Bard1 |
T |
C |
1: 71,106,289 (GRCm39) |
D446G |
probably damaging |
Het |
Baz2a |
T |
C |
10: 127,958,182 (GRCm39) |
L1087P |
probably damaging |
Het |
Bnc1 |
A |
G |
7: 81,624,390 (GRCm39) |
L279P |
possibly damaging |
Het |
Bphl |
A |
T |
13: 34,257,694 (GRCm39) |
H275L |
probably damaging |
Het |
Ces1c |
T |
C |
8: 93,845,042 (GRCm39) |
I120V |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,840,429 (GRCm39) |
Y946F |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 31,003,118 (GRCm39) |
V3606I |
probably benign |
Het |
Eef2 |
A |
G |
10: 81,017,081 (GRCm39) |
N696S |
probably benign |
Het |
Eno4 |
A |
G |
19: 58,951,248 (GRCm39) |
H420R |
possibly damaging |
Het |
Enpp1 |
T |
A |
10: 24,531,779 (GRCm39) |
|
probably benign |
Het |
Fbxo25 |
T |
C |
8: 13,974,019 (GRCm39) |
|
probably null |
Het |
Glt8d1 |
T |
A |
14: 30,732,053 (GRCm39) |
F155I |
probably damaging |
Het |
Golim4 |
A |
T |
3: 75,785,980 (GRCm39) |
H598Q |
possibly damaging |
Het |
Hnrnpdl |
T |
A |
5: 100,185,460 (GRCm39) |
E149D |
probably damaging |
Het |
Ifngr2 |
G |
T |
16: 91,359,892 (GRCm39) |
*333L |
probably null |
Het |
Ift88 |
T |
C |
14: 57,715,414 (GRCm39) |
S486P |
probably benign |
Het |
Igsf9 |
T |
C |
1: 172,318,310 (GRCm39) |
I150T |
probably benign |
Het |
Jag2 |
G |
A |
12: 112,877,568 (GRCm39) |
L670F |
possibly damaging |
Het |
Kcnc2 |
T |
A |
10: 112,291,652 (GRCm39) |
I280N |
probably benign |
Het |
Kif18a |
A |
G |
2: 109,148,462 (GRCm39) |
|
probably benign |
Het |
Lct |
A |
G |
1: 128,228,112 (GRCm39) |
L1127P |
possibly damaging |
Het |
Lonrf1 |
A |
T |
8: 36,692,705 (GRCm39) |
|
probably null |
Het |
Lyst |
T |
A |
13: 13,809,641 (GRCm39) |
I437N |
probably damaging |
Het |
Map3k1 |
A |
G |
13: 111,885,559 (GRCm39) |
S1453P |
probably benign |
Het |
Mcmdc2 |
A |
G |
1: 10,001,170 (GRCm39) |
M482V |
possibly damaging |
Het |
Mical1 |
T |
C |
10: 41,358,686 (GRCm39) |
S535P |
probably damaging |
Het |
Myh3 |
T |
C |
11: 66,981,798 (GRCm39) |
F765L |
probably damaging |
Het |
Nat8f6 |
A |
T |
6: 85,785,499 (GRCm39) |
Y217N |
probably damaging |
Het |
Ndufaf1 |
A |
G |
2: 119,486,280 (GRCm39) |
|
probably benign |
Het |
Neurod6 |
A |
T |
6: 55,655,760 (GRCm39) |
C292* |
probably null |
Het |
Or12j3 |
T |
A |
7: 139,953,005 (GRCm39) |
I173F |
probably damaging |
Het |
Or4c12b |
A |
G |
2: 89,647,015 (GRCm39) |
E109G |
probably damaging |
Het |
Or5j1 |
A |
T |
2: 86,879,356 (GRCm39) |
S75T |
possibly damaging |
Het |
Or6c76 |
A |
T |
10: 129,612,130 (GRCm39) |
M116L |
probably damaging |
Het |
Or7g16 |
T |
C |
9: 18,727,380 (GRCm39) |
D70G |
probably damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,278,735 (GRCm39) |
N572D |
probably damaging |
Het |
Pi4kb |
A |
G |
3: 94,892,075 (GRCm39) |
R264G |
probably benign |
Het |
Pla2g2c |
T |
A |
4: 138,458,923 (GRCm39) |
F10I |
probably benign |
Het |
Rag2 |
G |
A |
2: 101,460,559 (GRCm39) |
V290I |
probably benign |
Het |
Rhot2 |
G |
A |
17: 26,060,115 (GRCm39) |
|
probably benign |
Het |
Rps6kc1 |
T |
C |
1: 190,603,908 (GRCm39) |
Y238C |
probably damaging |
Het |
Scyl2 |
G |
T |
10: 89,488,830 (GRCm39) |
A495D |
possibly damaging |
Het |
Septin4 |
T |
A |
11: 87,476,071 (GRCm39) |
|
probably benign |
Het |
Serpina5 |
G |
T |
12: 104,067,992 (GRCm39) |
A18S |
probably benign |
Het |
Slc25a11 |
T |
C |
11: 70,536,033 (GRCm39) |
T234A |
probably benign |
Het |
Slc44a2 |
C |
T |
9: 21,258,061 (GRCm39) |
T435I |
probably benign |
Het |
Tekt2 |
T |
A |
4: 126,218,660 (GRCm39) |
Q31L |
possibly damaging |
Het |
Tfpi |
A |
G |
2: 84,274,389 (GRCm39) |
V199A |
possibly damaging |
Het |
Trap1 |
G |
T |
16: 3,862,565 (GRCm39) |
|
probably null |
Het |
Trmt1 |
A |
G |
8: 85,421,862 (GRCm39) |
Y213C |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,177,668 (GRCm39) |
R3184* |
probably null |
Het |
Uroc1 |
G |
T |
6: 90,340,085 (GRCm39) |
|
probably benign |
Het |
Vmn1r19 |
A |
G |
6: 57,381,476 (GRCm39) |
I10V |
probably benign |
Het |
Zfhx2 |
G |
A |
14: 55,310,302 (GRCm39) |
A748V |
possibly damaging |
Het |
|
Other mutations in Pfpl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00930:Pfpl
|
APN |
19 |
12,407,009 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01298:Pfpl
|
APN |
19 |
12,406,037 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01310:Pfpl
|
APN |
19 |
12,405,974 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02273:Pfpl
|
APN |
19 |
12,407,327 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02532:Pfpl
|
APN |
19 |
12,406,209 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02611:Pfpl
|
APN |
19 |
12,407,647 (GRCm39) |
missense |
probably benign |
|
IGL02642:Pfpl
|
APN |
19 |
12,407,107 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02715:Pfpl
|
APN |
19 |
12,407,145 (GRCm39) |
nonsense |
probably null |
|
IGL03223:Pfpl
|
APN |
19 |
12,407,438 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03253:Pfpl
|
APN |
19 |
12,407,393 (GRCm39) |
missense |
probably damaging |
0.99 |
pegged
|
UTSW |
19 |
12,406,374 (GRCm39) |
missense |
probably damaging |
1.00 |
D3080:Pfpl
|
UTSW |
19 |
12,406,196 (GRCm39) |
missense |
probably damaging |
0.98 |
R0276:Pfpl
|
UTSW |
19 |
12,406,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R0433:Pfpl
|
UTSW |
19 |
12,406,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1004:Pfpl
|
UTSW |
19 |
12,407,789 (GRCm39) |
missense |
probably benign |
0.00 |
R1510:Pfpl
|
UTSW |
19 |
12,407,060 (GRCm39) |
missense |
probably benign |
0.31 |
R1759:Pfpl
|
UTSW |
19 |
12,407,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R2009:Pfpl
|
UTSW |
19 |
12,407,319 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2063:Pfpl
|
UTSW |
19 |
12,407,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R2201:Pfpl
|
UTSW |
19 |
12,407,843 (GRCm39) |
missense |
probably benign |
0.01 |
R2656:Pfpl
|
UTSW |
19 |
12,407,600 (GRCm39) |
missense |
probably benign |
|
R2969:Pfpl
|
UTSW |
19 |
12,406,907 (GRCm39) |
missense |
probably benign |
0.00 |
R3003:Pfpl
|
UTSW |
19 |
12,407,690 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3428:Pfpl
|
UTSW |
19 |
12,407,677 (GRCm39) |
missense |
probably benign |
0.37 |
R3904:Pfpl
|
UTSW |
19 |
12,407,801 (GRCm39) |
missense |
probably benign |
0.00 |
R4049:Pfpl
|
UTSW |
19 |
12,407,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R4717:Pfpl
|
UTSW |
19 |
12,406,618 (GRCm39) |
missense |
probably benign |
0.07 |
R5343:Pfpl
|
UTSW |
19 |
12,406,052 (GRCm39) |
missense |
probably damaging |
0.99 |
R5804:Pfpl
|
UTSW |
19 |
12,407,027 (GRCm39) |
missense |
probably benign |
0.00 |
R6032:Pfpl
|
UTSW |
19 |
12,406,747 (GRCm39) |
missense |
probably damaging |
0.99 |
R6032:Pfpl
|
UTSW |
19 |
12,406,747 (GRCm39) |
missense |
probably damaging |
0.99 |
R6047:Pfpl
|
UTSW |
19 |
12,406,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R6106:Pfpl
|
UTSW |
19 |
12,406,825 (GRCm39) |
missense |
probably damaging |
0.99 |
R6657:Pfpl
|
UTSW |
19 |
12,407,290 (GRCm39) |
missense |
probably benign |
0.36 |
R7467:Pfpl
|
UTSW |
19 |
12,405,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R7720:Pfpl
|
UTSW |
19 |
12,406,538 (GRCm39) |
missense |
probably benign |
0.02 |
R8024:Pfpl
|
UTSW |
19 |
12,407,570 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8370:Pfpl
|
UTSW |
19 |
12,407,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R8730:Pfpl
|
UTSW |
19 |
12,405,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R8974:Pfpl
|
UTSW |
19 |
12,405,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R9147:Pfpl
|
UTSW |
19 |
12,405,804 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9148:Pfpl
|
UTSW |
19 |
12,405,804 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9248:Pfpl
|
UTSW |
19 |
12,406,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R9283:Pfpl
|
UTSW |
19 |
12,406,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R9542:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9560:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9561:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9663:Pfpl
|
UTSW |
19 |
12,407,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R9670:Pfpl
|
UTSW |
19 |
12,407,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R9721:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9722:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9723:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9759:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9761:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R9762:Pfpl
|
UTSW |
19 |
12,406,297 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pfpl
|
UTSW |
19 |
12,407,305 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |