Incidental Mutation 'R9670:Pfpl'
| ID |
728023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfpl
|
| Ensembl Gene |
ENSMUSG00000040065 |
| Gene Name |
pore forming protein-like |
| Synonyms |
Epcs5, Epcs50 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R9670 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12405290-12409474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12407107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 453
(F453L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168148]
|
| AlphaFold |
Q5RKV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168148
AA Change: F453L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: F453L
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,770,894 (GRCm39) |
T28A |
probably benign |
Het |
| Adam15 |
T |
C |
3: 89,253,270 (GRCm39) |
I220V |
probably benign |
Het |
| Atf7ip2 |
T |
A |
16: 10,058,512 (GRCm39) |
V317E |
probably benign |
Het |
| Bin3 |
T |
G |
14: 70,367,009 (GRCm39) |
|
probably null |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Brd2 |
T |
C |
17: 34,334,205 (GRCm39) |
T286A |
possibly damaging |
Het |
| Cers6 |
A |
G |
2: 68,833,114 (GRCm39) |
Y144C |
probably benign |
Het |
| Cox4i2 |
C |
A |
2: 152,602,610 (GRCm39) |
N101K |
probably damaging |
Het |
| Dguok |
T |
A |
6: 83,463,999 (GRCm39) |
L186F |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,148,926 (GRCm39) |
N1468S |
probably null |
Het |
| Eral1 |
T |
C |
11: 77,965,410 (GRCm39) |
H335R |
|
Het |
| Gm3248 |
A |
T |
14: 5,944,993 (GRCm38) |
I63K |
probably benign |
Het |
| Gm3415 |
A |
C |
5: 146,493,376 (GRCm39) |
I74L |
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,558,240 (GRCm39) |
R1416* |
probably null |
Het |
| Lrit2 |
T |
A |
14: 36,790,115 (GRCm39) |
C28* |
probably null |
Het |
| Mctp1 |
A |
T |
13: 76,532,840 (GRCm39) |
T63S |
probably benign |
Het |
| Ncbp3 |
T |
A |
11: 72,944,323 (GRCm39) |
N108K |
possibly damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,448,651 (GRCm39) |
I285V |
probably benign |
Het |
| Nup85 |
C |
T |
11: 115,457,471 (GRCm39) |
R58W |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,613,792 (GRCm39) |
V579A |
probably benign |
Het |
| Pde10a |
T |
C |
17: 9,020,272 (GRCm39) |
S70P |
unknown |
Het |
| Ppp3cb |
C |
A |
14: 20,578,314 (GRCm39) |
L145F |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,326,618 (GRCm39) |
K357R |
probably benign |
Het |
| Prkcb |
G |
T |
7: 122,233,070 (GRCm39) |
E656* |
probably null |
Het |
| Prrc2b |
C |
A |
2: 32,103,199 (GRCm39) |
H892Q |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,140,748 (GRCm38) |
|
probably null |
Het |
| Ruvbl1 |
T |
C |
6: 88,444,558 (GRCm39) |
V51A |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,560,845 (GRCm39) |
R2972L |
probably benign |
Het |
| Sec14l1 |
A |
G |
11: 117,046,058 (GRCm39) |
I542V |
possibly damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sgk1 |
AAGA |
AAGAGA |
10: 21,868,290 (GRCm39) |
|
probably null |
Het |
| Slc26a9 |
C |
A |
1: 131,681,688 (GRCm39) |
A167E |
probably benign |
Het |
| Tarbp1 |
A |
T |
8: 127,183,262 (GRCm39) |
L519Q |
probably null |
Het |
| Trak2 |
G |
A |
1: 58,985,463 (GRCm39) |
R12* |
probably null |
Het |
| Ush2a |
A |
G |
1: 188,360,768 (GRCm39) |
I2163V |
probably benign |
Het |
| Vmn2r114 |
T |
A |
17: 23,531,098 (GRCm39) |
N64Y |
|
Het |
| Wdfy4 |
T |
C |
14: 32,769,219 (GRCm39) |
Y2236C |
|
Het |
| Zfp316 |
A |
T |
5: 143,240,348 (GRCm39) |
V557E |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACATGTGCCTAGATTTCCATC -3'
(R):5'- AGGGGACTGAATATTTGGGCC -3'
Sequencing Primer
(F):5'- CATGTGCCTAGATTTCCATCAGAAG -3'
(R):5'- GAATATTTGGGCCCCAACTCATG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation