Incidental Mutation 'IGL02273:Pfpl'
ID |
287241 |
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: 0.117)
|
Stock # |
IGL02273
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
12405290-12409474 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 12407327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 526
(V526A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168148]
|
AlphaFold |
Q5RKV8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168148
AA Change: V526A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126346 Gene: ENSMUSG00000040065 AA Change: V526A
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930451I11Rik |
T |
C |
7: 126,429,931 (GRCm39) |
T89A |
probably benign |
Het |
Amhr2 |
T |
C |
15: 102,360,924 (GRCm39) |
V353A |
probably benign |
Het |
Bbox1 |
A |
T |
2: 110,105,961 (GRCm39) |
Y194* |
probably null |
Het |
Bltp1 |
T |
A |
3: 36,975,586 (GRCm39) |
|
probably benign |
Het |
Bnipl |
C |
A |
3: 95,153,086 (GRCm39) |
R131L |
possibly damaging |
Het |
Casp8ap2 |
T |
C |
4: 32,643,974 (GRCm39) |
S1016P |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,867,657 (GRCm39) |
I88M |
possibly damaging |
Het |
Cyp24a1 |
A |
T |
2: 170,338,278 (GRCm39) |
Y89N |
probably damaging |
Het |
Ddx25 |
G |
T |
9: 35,458,122 (GRCm39) |
N332K |
possibly damaging |
Het |
Dnaaf5 |
C |
T |
5: 139,163,671 (GRCm39) |
Q348* |
probably null |
Het |
Dnah3 |
A |
T |
7: 119,550,494 (GRCm39) |
I3264N |
probably damaging |
Het |
Eml4 |
T |
A |
17: 83,763,808 (GRCm39) |
|
probably null |
Het |
Farsa |
C |
T |
8: 85,594,455 (GRCm39) |
A368V |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,403,368 (GRCm39) |
Y40H |
probably damaging |
Het |
Glt1d1 |
T |
A |
5: 127,734,208 (GRCm39) |
|
probably benign |
Het |
Gm5422 |
A |
G |
10: 31,126,003 (GRCm39) |
|
noncoding transcript |
Het |
Gpr135 |
A |
G |
12: 72,116,732 (GRCm39) |
I345T |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,314,389 (GRCm39) |
V3616I |
probably benign |
Het |
Kif9 |
A |
T |
9: 110,339,538 (GRCm39) |
K460M |
probably damaging |
Het |
Ldhd |
T |
C |
8: 112,353,922 (GRCm39) |
E426G |
probably benign |
Het |
Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
Nfkb1 |
A |
T |
3: 135,310,968 (GRCm39) |
C444S |
probably benign |
Het |
Pfkfb2 |
G |
A |
1: 130,635,319 (GRCm39) |
R81C |
probably damaging |
Het |
Phf20l1 |
T |
A |
15: 66,511,874 (GRCm39) |
V951E |
probably damaging |
Het |
Pik3cg |
A |
T |
12: 32,226,809 (GRCm39) |
L1026Q |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,247,156 (GRCm39) |
N263S |
probably damaging |
Het |
Prkcb |
T |
A |
7: 122,226,990 (GRCm39) |
F659I |
probably damaging |
Het |
Prr14 |
A |
G |
7: 127,075,108 (GRCm39) |
I69M |
probably damaging |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Senp5 |
T |
C |
16: 31,808,690 (GRCm39) |
H161R |
probably benign |
Het |
Spc25 |
A |
G |
2: 69,035,273 (GRCm39) |
|
probably benign |
Het |
Spty2d1 |
A |
G |
7: 46,647,321 (GRCm39) |
V536A |
probably damaging |
Het |
Susd2 |
A |
G |
10: 75,476,772 (GRCm39) |
S84P |
possibly damaging |
Het |
Tacc1 |
A |
C |
8: 25,649,797 (GRCm39) |
L768V |
probably damaging |
Het |
Tbpl2 |
A |
T |
2: 23,986,531 (GRCm39) |
I5N |
probably benign |
Het |
Tmc2 |
A |
G |
2: 130,071,126 (GRCm39) |
D285G |
probably damaging |
Het |
Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
Trmt44 |
T |
C |
5: 35,731,457 (GRCm39) |
Y190C |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,199,889 (GRCm39) |
R4591H |
possibly damaging |
Het |
Zfc3h1 |
T |
A |
10: 115,263,004 (GRCm39) |
D1739E |
probably benign |
Het |
Zfp26 |
A |
G |
9: 20,352,744 (GRCm39) |
V107A |
probably 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 |
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 |
|
IGL03087:Pfpl
|
APN |
19 |
12,406,241 (GRCm39) |
missense |
probably benign |
0.06 |
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 |
2015-04-16 |