Incidental Mutation 'IGL01310:Pfpl'
ID |
73632 |
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 # |
IGL01310
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
12405290-12409474 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12405974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 75
(D75G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168148]
|
AlphaFold |
Q5RKV8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168148
AA Change: D75G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126346 Gene: ENSMUSG00000040065 AA Change: D75G
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930431F12Rik |
A |
T |
5: 45,125,156 (GRCm39) |
|
noncoding transcript |
Het |
Abca12 |
A |
T |
1: 71,323,315 (GRCm39) |
I1589N |
probably benign |
Het |
Abca8a |
T |
G |
11: 109,950,801 (GRCm39) |
D888A |
probably benign |
Het |
Adam5 |
C |
T |
8: 25,232,150 (GRCm39) |
|
probably benign |
Het |
Amer1 |
A |
T |
X: 94,470,716 (GRCm39) |
N467K |
probably benign |
Het |
Atp6v0a2 |
A |
G |
5: 124,783,968 (GRCm39) |
D272G |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,575,794 (GRCm39) |
N751K |
probably damaging |
Het |
Cfi |
T |
A |
3: 129,652,080 (GRCm39) |
N250K |
probably damaging |
Het |
Cndp2 |
G |
T |
18: 84,689,002 (GRCm39) |
P260Q |
possibly damaging |
Het |
Cnnm3 |
A |
G |
1: 36,551,956 (GRCm39) |
D322G |
probably benign |
Het |
Crybg1 |
A |
T |
10: 43,851,054 (GRCm39) |
S1606T |
possibly damaging |
Het |
Crybg1 |
A |
G |
10: 43,879,596 (GRCm39) |
S531P |
probably damaging |
Het |
Espnl |
A |
T |
1: 91,268,333 (GRCm39) |
K320* |
probably null |
Het |
Glt1d1 |
A |
G |
5: 127,709,384 (GRCm39) |
T13A |
possibly damaging |
Het |
Gpam |
C |
T |
19: 55,066,764 (GRCm39) |
A584T |
possibly damaging |
Het |
Gpr19 |
A |
G |
6: 134,846,705 (GRCm39) |
I289T |
probably damaging |
Het |
Grm8 |
T |
C |
6: 27,363,800 (GRCm39) |
I572V |
probably damaging |
Het |
Gtpbp4 |
A |
T |
13: 9,027,308 (GRCm39) |
N502K |
probably benign |
Het |
Herpud2 |
T |
C |
9: 25,062,247 (GRCm39) |
M6V |
probably benign |
Het |
Igdcc3 |
T |
C |
9: 65,085,724 (GRCm39) |
V263A |
probably damaging |
Het |
Il33 |
G |
A |
19: 29,930,156 (GRCm39) |
A65T |
probably benign |
Het |
Itga9 |
T |
A |
9: 118,598,227 (GRCm39) |
M1K |
probably null |
Het |
Izumo3 |
T |
C |
4: 92,035,217 (GRCm39) |
|
probably benign |
Het |
Kdr |
G |
A |
5: 76,110,261 (GRCm39) |
P909S |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,997,182 (GRCm39) |
E262K |
probably benign |
Het |
Krt25 |
T |
A |
11: 99,208,996 (GRCm39) |
Q278L |
probably benign |
Het |
Lgi2 |
G |
T |
5: 52,711,807 (GRCm39) |
P195Q |
probably benign |
Het |
Lpcat3 |
T |
C |
6: 124,676,301 (GRCm39) |
F120S |
possibly damaging |
Het |
Nalcn |
C |
T |
14: 123,554,661 (GRCm39) |
R910Q |
probably benign |
Het |
Nrxn1 |
A |
G |
17: 90,366,902 (GRCm39) |
|
probably null |
Het |
Nuf2 |
A |
T |
1: 169,326,431 (GRCm39) |
V440E |
probably benign |
Het |
Or10ag60 |
T |
A |
2: 87,437,852 (GRCm39) |
I40N |
possibly damaging |
Het |
Or4f14 |
C |
T |
2: 111,742,652 (GRCm39) |
V208M |
probably benign |
Het |
Or51ah3 |
C |
T |
7: 103,210,008 (GRCm39) |
S108F |
probably benign |
Het |
Or6c205 |
T |
C |
10: 129,086,865 (GRCm39) |
I154T |
possibly damaging |
Het |
Pgm5 |
A |
G |
19: 24,812,130 (GRCm39) |
V134A |
possibly damaging |
Het |
Prkch |
A |
G |
12: 73,805,787 (GRCm39) |
I521V |
possibly damaging |
Het |
Rps6kc1 |
T |
A |
1: 190,515,822 (GRCm39) |
E968V |
probably benign |
Het |
Slc25a30 |
T |
C |
14: 76,007,037 (GRCm39) |
Y153C |
probably damaging |
Het |
Smtnl2 |
T |
A |
11: 72,292,171 (GRCm39) |
|
probably null |
Het |
Spmip4 |
C |
A |
6: 50,551,175 (GRCm39) |
V425L |
probably benign |
Het |
Tbc1d14 |
T |
A |
5: 36,700,544 (GRCm39) |
K275* |
probably null |
Het |
Tnc |
T |
C |
4: 63,931,314 (GRCm39) |
T799A |
probably benign |
Het |
Trdn |
A |
T |
10: 33,181,094 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,706,879 (GRCm39) |
|
probably benign |
Het |
Uaca |
T |
C |
9: 60,779,507 (GRCm39) |
M1296T |
probably benign |
Het |
Ubash3a |
A |
C |
17: 31,434,116 (GRCm39) |
I154L |
probably benign |
Het |
Vmn2r4 |
T |
A |
3: 64,317,200 (GRCm39) |
|
probably null |
Het |
Xpc |
T |
C |
6: 91,467,089 (GRCm39) |
K915E |
probably benign |
Het |
Zfp318 |
T |
C |
17: 46,724,153 (GRCm39) |
I2052T |
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 |
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 |
|
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 |
2013-10-07 |