Incidental Mutation 'R5804:Pfpl'
| ID |
448431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfpl
|
| Ensembl Gene |
ENSMUSG00000040065 |
| Gene Name |
pore forming protein-like |
| Synonyms |
Epcs5, Epcs50 |
| MMRRC Submission |
043211-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R5804 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12405290-12409474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12407027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 426
(H426L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168148]
|
| AlphaFold |
Q5RKV8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168148
AA Change: H426L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: H426L
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
T |
16: 8,396,100 (GRCm39) |
R19* |
probably null |
Het |
| Abcb9 |
A |
G |
5: 124,218,118 (GRCm39) |
M406T |
probably benign |
Het |
| Ager |
A |
G |
17: 34,817,157 (GRCm39) |
E32G |
probably damaging |
Het |
| Cdk10 |
T |
A |
8: 123,955,579 (GRCm39) |
|
probably null |
Het |
| Cfap97d1 |
A |
G |
11: 101,881,640 (GRCm39) |
N112S |
probably damaging |
Het |
| Ctsl |
A |
T |
13: 64,514,302 (GRCm39) |
Y259N |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,207,965 (GRCm39) |
|
probably null |
Het |
| Dse |
T |
A |
10: 34,029,375 (GRCm39) |
I572F |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,517,247 (GRCm39) |
|
probably null |
Het |
| Gatm |
T |
A |
2: 122,433,083 (GRCm39) |
Y193F |
probably benign |
Het |
| Gpaa1 |
T |
C |
15: 76,216,826 (GRCm39) |
F170S |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,620,155 (GRCm39) |
L363P |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,138,951 (GRCm39) |
P64S |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,026,455 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
C |
10: 14,009,519 (GRCm39) |
K1725N |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,550,098 (GRCm39) |
C2695* |
probably null |
Het |
| Hmgcr |
G |
A |
13: 96,802,695 (GRCm39) |
T68M |
probably damaging |
Het |
| Igsf21 |
A |
T |
4: 139,755,385 (GRCm39) |
D423E |
possibly damaging |
Het |
| Jag1 |
T |
C |
2: 136,930,124 (GRCm39) |
N751S |
probably benign |
Het |
| Klrc2 |
A |
T |
6: 129,637,436 (GRCm39) |
N28K |
possibly damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,727,423 (GRCm39) |
D29V |
possibly damaging |
Het |
| Mtcl1 |
A |
C |
17: 66,650,132 (GRCm39) |
S1329A |
probably benign |
Het |
| Nin |
C |
T |
12: 70,092,375 (GRCm39) |
V645I |
possibly damaging |
Het |
| Or4c127 |
T |
C |
2: 89,833,332 (GRCm39) |
I194T |
possibly damaging |
Het |
| Or51i1 |
T |
C |
7: 103,671,439 (GRCm39) |
I29V |
probably benign |
Het |
| Or8s2 |
T |
A |
15: 98,276,215 (GRCm39) |
M259L |
probably benign |
Het |
| Or9g4 |
T |
A |
2: 85,504,682 (GRCm39) |
D271V |
probably damaging |
Het |
| Poteg |
A |
G |
8: 27,946,826 (GRCm39) |
D238G |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,778,474 (GRCm39) |
F386L |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,380,905 (GRCm39) |
I96F |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,840,077 (GRCm39) |
|
probably null |
Het |
| Slc16a4 |
A |
T |
3: 107,206,280 (GRCm39) |
M117L |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,689,506 (GRCm39) |
N372S |
possibly damaging |
Het |
| Stmn4 |
G |
A |
14: 66,593,748 (GRCm39) |
G47D |
probably benign |
Het |
| Tex26 |
A |
G |
5: 149,386,612 (GRCm39) |
N137S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,747,163 (GRCm39) |
I4629F |
probably benign |
Het |
| Ubash3a |
G |
A |
17: 31,427,206 (GRCm39) |
|
probably null |
Het |
| Ube3d |
T |
C |
9: 86,307,401 (GRCm39) |
I233V |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,297,369 (GRCm39) |
T680S |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,826,640 (GRCm39) |
T2846I |
probably benign |
Het |
| Zbtb22 |
TGGACCCGGGAC |
TGGACCCGGGACCCGGGAC |
17: 34,137,593 (GRCm39) |
|
probably null |
Het |
| Zfp41 |
C |
T |
15: 75,490,557 (GRCm39) |
P170S |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATGGTAAACTGGTCAACGC -3'
(R):5'- AAGTAACTGGTTGGGCACG -3'
Sequencing Primer
(F):5'- GTAAACTGGTCAACGCTCCCTTTG -3'
(R):5'- TCTTGTCAGTGAAGACTCCTCCAAAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation