Incidental Mutation 'R8037:Pgap6'
ID |
618309 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pgap6
|
Ensembl Gene |
ENSMUSG00000024180 |
Gene Name |
post-glycosylphosphatidylinositol attachment to proteins 6 |
Synonyms |
Rxylt1, Tmem8, M83 |
MMRRC Submission |
067474-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R8037 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
26332290-26342228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26336509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 209
(L209P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025010
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025010]
[ENSMUST00000128597]
|
AlphaFold |
Q9ESN3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025010
AA Change: L209P
PolyPhen 2
Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000025010 Gene: ENSMUSG00000024180 AA Change: L209P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
EGF
|
495 |
531 |
1.99e1 |
SMART |
Pfam:DUF3522
|
541 |
725 |
1e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128597
|
SMART Domains |
Protein: ENSMUSP00000121651 Gene: ENSMUSG00000024180
Domain | Start | End | E-Value | Type |
EGF
|
3 |
39 |
1.99e1 |
SMART |
Pfam:DUF3522
|
47 |
143 |
2e-36 |
PFAM |
Pfam:DUF3522
|
134 |
194 |
2.6e-17 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
T |
11: 9,243,904 (GRCm39) |
W1922C |
probably damaging |
Het |
Acad11 |
T |
A |
9: 103,953,035 (GRCm39) |
I88N |
possibly damaging |
Het |
Adgrf3 |
A |
T |
5: 30,404,510 (GRCm39) |
C309S |
probably damaging |
Het |
Ankhd1 |
T |
A |
18: 36,771,676 (GRCm39) |
V1343E |
probably damaging |
Het |
Aqr |
A |
T |
2: 113,992,161 (GRCm39) |
Y72N |
probably damaging |
Het |
Bptf |
T |
C |
11: 106,946,776 (GRCm39) |
T2339A |
probably damaging |
Het |
Ccdc121rt3 |
A |
G |
5: 112,502,882 (GRCm39) |
V274A |
probably benign |
Het |
Ccr8 |
T |
C |
9: 119,923,436 (GRCm39) |
F184L |
probably benign |
Het |
Dbh |
A |
G |
2: 27,055,700 (GRCm39) |
D58G |
probably damaging |
Het |
Depdc5 |
T |
C |
5: 33,116,692 (GRCm39) |
|
probably null |
Het |
Dhdds |
G |
A |
4: 133,724,158 (GRCm39) |
T52I |
probably benign |
Het |
Dnmt1 |
A |
C |
9: 20,852,860 (GRCm39) |
V82G |
probably damaging |
Het |
Efemp2 |
C |
T |
19: 5,530,141 (GRCm39) |
Q290* |
probably null |
Het |
Eipr1 |
A |
G |
12: 28,914,676 (GRCm39) |
S277G |
probably benign |
Het |
Fam110b |
A |
G |
4: 5,799,511 (GRCm39) |
I310V |
possibly damaging |
Het |
Foxn4 |
T |
C |
5: 114,394,658 (GRCm39) |
D423G |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,816,322 (GRCm39) |
N4018K |
possibly damaging |
Het |
Gm12887 |
T |
A |
4: 121,472,887 (GRCm39) |
D85V |
probably damaging |
Het |
Gys2 |
A |
G |
6: 142,394,119 (GRCm39) |
V473A |
probably benign |
Het |
Hnrnpu |
A |
T |
1: 178,159,917 (GRCm39) |
F388Y |
unknown |
Het |
Hoxa5 |
A |
G |
6: 52,181,309 (GRCm39) |
S8P |
probably damaging |
Het |
Ier5 |
A |
T |
1: 154,975,175 (GRCm39) |
M1K |
probably null |
Het |
Ighv1-52 |
A |
G |
12: 115,109,210 (GRCm39) |
F83S |
probably damaging |
Het |
Lrch1 |
T |
C |
14: 75,023,794 (GRCm39) |
D577G |
probably damaging |
Het |
Lrrk1 |
A |
T |
7: 65,935,089 (GRCm39) |
M1010K |
probably benign |
Het |
Mttp |
T |
G |
3: 137,796,883 (GRCm39) |
N873T |
probably damaging |
Het |
Nphs2 |
A |
G |
1: 156,138,400 (GRCm39) |
R15G |
possibly damaging |
Het |
Or4a70 |
A |
T |
2: 89,324,055 (GRCm39) |
N200K |
possibly damaging |
Het |
Or5d16 |
T |
C |
2: 87,773,319 (GRCm39) |
T218A |
probably benign |
Het |
Or8d6 |
T |
A |
9: 39,854,177 (GRCm39) |
V207D |
probably damaging |
Het |
Pcdhga8 |
T |
C |
18: 37,860,071 (GRCm39) |
S376P |
probably damaging |
Het |
Pde3a |
A |
G |
6: 141,429,650 (GRCm39) |
N737S |
possibly damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Rin1 |
T |
A |
19: 5,101,852 (GRCm39) |
L179Q |
probably damaging |
Het |
Sec63 |
T |
A |
10: 42,659,483 (GRCm39) |
M57K |
probably benign |
Het |
Senp2 |
C |
T |
16: 21,832,888 (GRCm39) |
Q59* |
probably null |
Het |
St8sia5 |
G |
A |
18: 77,336,238 (GRCm39) |
V224I |
possibly damaging |
Het |
Sycp2 |
A |
T |
2: 178,045,571 (GRCm39) |
D16E |
probably damaging |
Het |
Tab1 |
A |
G |
15: 80,044,471 (GRCm39) |
T500A |
probably benign |
Het |
Tead1 |
A |
G |
7: 112,358,727 (GRCm39) |
D13G |
possibly damaging |
Het |
Tecpr2 |
T |
C |
12: 110,902,854 (GRCm39) |
F860L |
probably benign |
Het |
Tg |
A |
G |
15: 66,560,724 (GRCm39) |
M1029V |
probably benign |
Het |
Tnni2 |
A |
G |
7: 141,997,691 (GRCm39) |
R109G |
probably damaging |
Het |
Unc79 |
A |
G |
12: 103,016,178 (GRCm39) |
K320R |
probably damaging |
Het |
Vmn1r9 |
T |
A |
6: 57,047,988 (GRCm39) |
V21D |
probably benign |
Het |
Zfp64 |
A |
G |
2: 168,741,932 (GRCm39) |
F332S |
probably damaging |
Het |
|
Other mutations in Pgap6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00235:Pgap6
|
APN |
17 |
26,336,493 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01014:Pgap6
|
APN |
17 |
26,335,983 (GRCm39) |
unclassified |
probably benign |
|
IGL02167:Pgap6
|
APN |
17 |
26,338,045 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02375:Pgap6
|
APN |
17 |
26,338,473 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02892:Pgap6
|
APN |
17 |
26,338,094 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02931:Pgap6
|
APN |
17 |
26,336,923 (GRCm39) |
missense |
probably benign |
|
IGL03005:Pgap6
|
APN |
17 |
26,337,911 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03124:Pgap6
|
APN |
17 |
26,335,808 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03046:Pgap6
|
UTSW |
17 |
26,338,414 (GRCm39) |
splice site |
probably null |
|
R0551:Pgap6
|
UTSW |
17 |
26,339,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R0555:Pgap6
|
UTSW |
17 |
26,336,088 (GRCm39) |
missense |
probably benign |
0.19 |
R1502:Pgap6
|
UTSW |
17 |
26,339,290 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1593:Pgap6
|
UTSW |
17 |
26,337,381 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1688:Pgap6
|
UTSW |
17 |
26,337,882 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1829:Pgap6
|
UTSW |
17 |
26,341,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R2071:Pgap6
|
UTSW |
17 |
26,341,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R2117:Pgap6
|
UTSW |
17 |
26,336,858 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3609:Pgap6
|
UTSW |
17 |
26,337,860 (GRCm39) |
missense |
probably benign |
0.23 |
R3610:Pgap6
|
UTSW |
17 |
26,337,860 (GRCm39) |
missense |
probably benign |
0.23 |
R4564:Pgap6
|
UTSW |
17 |
26,336,837 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4749:Pgap6
|
UTSW |
17 |
26,335,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R4777:Pgap6
|
UTSW |
17 |
26,340,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R4913:Pgap6
|
UTSW |
17 |
26,339,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R5098:Pgap6
|
UTSW |
17 |
26,337,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R5126:Pgap6
|
UTSW |
17 |
26,340,614 (GRCm39) |
missense |
probably damaging |
0.99 |
R5640:Pgap6
|
UTSW |
17 |
26,337,846 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5722:Pgap6
|
UTSW |
17 |
26,339,536 (GRCm39) |
frame shift |
probably null |
|
R5723:Pgap6
|
UTSW |
17 |
26,339,536 (GRCm39) |
frame shift |
probably null |
|
R5739:Pgap6
|
UTSW |
17 |
26,339,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R5927:Pgap6
|
UTSW |
17 |
26,340,972 (GRCm39) |
missense |
probably benign |
0.34 |
R6587:Pgap6
|
UTSW |
17 |
26,340,538 (GRCm39) |
missense |
probably benign |
0.03 |
R6723:Pgap6
|
UTSW |
17 |
26,339,610 (GRCm39) |
missense |
probably damaging |
0.96 |
R7588:Pgap6
|
UTSW |
17 |
26,341,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R7621:Pgap6
|
UTSW |
17 |
26,336,865 (GRCm39) |
missense |
probably benign |
0.00 |
R7653:Pgap6
|
UTSW |
17 |
26,339,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R7771:Pgap6
|
UTSW |
17 |
26,341,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R8493:Pgap6
|
UTSW |
17 |
26,340,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R8956:Pgap6
|
UTSW |
17 |
26,339,374 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9048:Pgap6
|
UTSW |
17 |
26,340,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R9574:Pgap6
|
UTSW |
17 |
26,337,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGACCTTACTCTCAGCTACC -3'
(R):5'- TCGCACTGGGCACTTATTTC -3'
Sequencing Primer
(F):5'- CCGACTCTAGATTCAACTCCG -3'
(R):5'- TCTCCTAACATGCTTACAGGGAG -3'
|
Posted On |
2020-01-23 |