Incidental Mutation 'IGL01014:Pgap6'
ID |
54048 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pgap6
|
Ensembl Gene |
ENSMUSG00000024180 |
Gene Name |
post-glycosylphosphatidylinositol attachment to proteins 6 |
Synonyms |
Rxylt1, Tmem8, M83 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
IGL01014
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
26332290-26342228 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 26335983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121651
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025010]
[ENSMUST00000128597]
|
AlphaFold |
Q9ESN3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025010
|
SMART Domains |
Protein: ENSMUSP00000025010 Gene: ENSMUSG00000024180
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra1 |
G |
A |
7: 139,455,576 (GRCm39) |
M401I |
probably benign |
Het |
Adgra1 |
C |
T |
7: 139,455,577 (GRCm39) |
H402Y |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,400,381 (GRCm39) |
|
probably benign |
Het |
Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,361,960 (GRCm39) |
F722S |
possibly damaging |
Het |
Arhgef39 |
G |
A |
4: 43,499,502 (GRCm39) |
R36C |
probably damaging |
Het |
Art2a |
C |
A |
7: 101,204,115 (GRCm39) |
C141F |
probably damaging |
Het |
Brwd1 |
A |
G |
16: 95,817,373 (GRCm39) |
F1380L |
probably benign |
Het |
Cadps2 |
A |
T |
6: 23,496,873 (GRCm39) |
N102K |
possibly damaging |
Het |
Ccdc30 |
C |
A |
4: 119,250,776 (GRCm39) |
R22L |
possibly damaging |
Het |
Ccdc74a |
A |
T |
16: 17,467,661 (GRCm39) |
T200S |
possibly damaging |
Het |
Cd200 |
G |
A |
16: 45,215,063 (GRCm39) |
T196I |
probably benign |
Het |
Cd244a |
A |
G |
1: 171,401,856 (GRCm39) |
Y194C |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,143,301 (GRCm39) |
T3009A |
probably damaging |
Het |
Clec12b |
T |
A |
6: 129,362,393 (GRCm39) |
N21Y |
probably damaging |
Het |
Cntln |
A |
G |
4: 84,968,145 (GRCm39) |
E788G |
probably benign |
Het |
Col11a1 |
C |
T |
3: 113,917,458 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
T |
A |
6: 18,423,894 (GRCm39) |
N810I |
probably damaging |
Het |
Dhx15 |
A |
T |
5: 52,309,266 (GRCm39) |
V719D |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,051,764 (GRCm39) |
|
probably benign |
Het |
Dnajc13 |
A |
G |
9: 104,080,417 (GRCm39) |
I888T |
probably damaging |
Het |
Fasn |
T |
C |
11: 120,708,055 (GRCm39) |
K666E |
probably damaging |
Het |
Gnas |
C |
T |
2: 174,139,767 (GRCm39) |
|
probably benign |
Het |
Lmntd2 |
T |
C |
7: 140,793,952 (GRCm39) |
Q7R |
probably damaging |
Het |
Lmo7 |
G |
A |
14: 102,157,993 (GRCm39) |
|
probably benign |
Het |
Lrrc55 |
A |
G |
2: 85,026,559 (GRCm39) |
I155T |
possibly damaging |
Het |
Meis3 |
C |
T |
7: 15,912,872 (GRCm39) |
|
probably benign |
Het |
Mib2 |
C |
T |
4: 155,742,187 (GRCm39) |
V334M |
probably damaging |
Het |
Myo3a |
A |
G |
2: 22,337,284 (GRCm39) |
I386V |
probably benign |
Het |
Neb |
C |
A |
2: 52,177,170 (GRCm39) |
M1390I |
probably benign |
Het |
Nmd3 |
G |
A |
3: 69,633,719 (GRCm39) |
V69I |
probably benign |
Het |
Nsmce3 |
G |
T |
7: 64,522,382 (GRCm39) |
D95E |
possibly damaging |
Het |
Or4c12 |
T |
C |
2: 89,773,604 (GRCm39) |
Y285C |
probably damaging |
Het |
Or4f58 |
A |
G |
2: 111,851,477 (GRCm39) |
S241P |
probably damaging |
Het |
Or5w16 |
T |
C |
2: 87,577,469 (GRCm39) |
F310L |
probably benign |
Het |
Pde4d |
T |
C |
13: 110,086,036 (GRCm39) |
V538A |
probably damaging |
Het |
Plxnb1 |
A |
T |
9: 108,935,102 (GRCm39) |
H982L |
probably benign |
Het |
Pold2 |
G |
T |
11: 5,822,293 (GRCm39) |
Q459K |
probably benign |
Het |
Ptpn14 |
G |
A |
1: 189,554,830 (GRCm39) |
R130Q |
probably damaging |
Het |
Rnf10 |
A |
T |
5: 115,395,042 (GRCm39) |
L182Q |
probably damaging |
Het |
Syne2 |
G |
A |
12: 75,952,051 (GRCm39) |
D440N |
probably damaging |
Het |
Tlcd1 |
G |
A |
11: 78,070,283 (GRCm39) |
|
probably null |
Het |
Tpte |
A |
T |
8: 22,810,898 (GRCm39) |
Y185F |
probably benign |
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 |
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 |
R8037:Pgap6
|
UTSW |
17 |
26,336,509 (GRCm39) |
missense |
possibly damaging |
0.63 |
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 |
|
Posted On |
2013-06-28 |