Incidental Mutation 'IGL02375:Pgap6'
ID |
291062 |
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: 0.090)
|
Stock # |
IGL02375
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
26332290-26342228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 26338473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 512
(Y512N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025010
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025010]
[ENSMUST00000025014]
[ENSMUST00000128597]
|
AlphaFold |
Q9ESN3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025010
AA Change: Y512N
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000025010 Gene: ENSMUSG00000024180 AA Change: Y512N
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: ENSMUST00000025014
|
SMART Domains |
Protein: ENSMUSP00000025014 Gene: ENSMUSG00000024181
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L28
|
77 |
138 |
3.8e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123132
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128597
AA Change: Y20N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121651 Gene: ENSMUSG00000024180 AA Change: Y20N
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
A |
6: 146,854,813 (GRCm39) |
K76N |
possibly damaging |
Het |
Agxt |
A |
G |
1: 93,063,425 (GRCm39) |
E109G |
probably damaging |
Het |
Alcam |
T |
C |
16: 52,109,299 (GRCm39) |
T325A |
probably benign |
Het |
Apol7c |
T |
C |
15: 77,413,049 (GRCm39) |
E67G |
probably damaging |
Het |
Bco1 |
C |
A |
8: 117,840,178 (GRCm39) |
S232Y |
probably benign |
Het |
Cacna1c |
A |
T |
6: 118,652,884 (GRCm39) |
V763D |
probably damaging |
Het |
Ccdc15 |
T |
C |
9: 37,215,628 (GRCm39) |
D618G |
probably damaging |
Het |
Cimip1 |
A |
G |
2: 173,364,496 (GRCm39) |
M14V |
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,783,312 (GRCm39) |
N1603S |
unknown |
Het |
Cyp4v3 |
A |
G |
8: 45,761,411 (GRCm39) |
|
probably null |
Het |
Eml5 |
A |
T |
12: 98,810,346 (GRCm39) |
V870E |
probably damaging |
Het |
Epn2 |
A |
G |
11: 61,410,497 (GRCm39) |
V512A |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,504,185 (GRCm39) |
R321G |
probably damaging |
Het |
Garin3 |
G |
T |
11: 46,297,379 (GRCm39) |
V228L |
probably damaging |
Het |
Gprasp1 |
T |
C |
X: 134,701,552 (GRCm39) |
S582P |
probably damaging |
Het |
Grhl2 |
T |
C |
15: 37,291,821 (GRCm39) |
V303A |
probably damaging |
Het |
Grik1 |
A |
T |
16: 87,743,444 (GRCm39) |
F594L |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,309,925 (GRCm39) |
K722E |
probably benign |
Het |
Htr5b |
G |
A |
1: 121,455,564 (GRCm39) |
R119C |
probably damaging |
Het |
Ifit2 |
T |
C |
19: 34,551,737 (GRCm39) |
S426P |
probably benign |
Het |
Kif13a |
T |
C |
13: 46,978,698 (GRCm39) |
Y234C |
probably damaging |
Het |
Mios |
T |
A |
6: 8,222,598 (GRCm39) |
F511I |
probably benign |
Het |
Mtfmt |
T |
C |
9: 65,346,849 (GRCm39) |
W148R |
probably damaging |
Het |
Myo1c |
C |
A |
11: 75,552,400 (GRCm39) |
T391N |
probably benign |
Het |
Nlrp1a |
A |
T |
11: 71,004,339 (GRCm39) |
L710* |
probably null |
Het |
Nlrp1b |
A |
G |
11: 71,052,506 (GRCm39) |
I971T |
probably damaging |
Het |
Nup43 |
A |
G |
10: 7,549,358 (GRCm39) |
D171G |
probably damaging |
Het |
Or5b12b |
A |
G |
19: 12,861,305 (GRCm39) |
E20G |
probably benign |
Het |
P2rx7 |
T |
C |
5: 122,811,719 (GRCm39) |
|
probably benign |
Het |
Poli |
C |
T |
18: 70,656,363 (GRCm39) |
G155R |
probably damaging |
Het |
Rad9b |
T |
C |
5: 122,471,405 (GRCm39) |
S220G |
possibly damaging |
Het |
Rgn |
C |
T |
X: 20,416,700 (GRCm39) |
S28L |
probably damaging |
Het |
Tcp11l2 |
G |
A |
10: 84,440,932 (GRCm39) |
|
probably null |
Het |
Tenm4 |
G |
A |
7: 96,353,344 (GRCm39) |
V379I |
possibly damaging |
Het |
Thsd7a |
A |
T |
6: 12,343,264 (GRCm39) |
C1118S |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,667,664 (GRCm39) |
Y776H |
probably damaging |
Het |
Trpv4 |
T |
C |
5: 114,774,418 (GRCm39) |
N222S |
probably benign |
Het |
Tut1 |
C |
T |
19: 8,941,403 (GRCm39) |
R397C |
probably damaging |
Het |
Vmn1r72 |
T |
A |
7: 11,403,672 (GRCm39) |
T259S |
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,149,423 (GRCm39) |
S2P |
possibly 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 |
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 |
2015-04-16 |