Incidental Mutation 'IGL02167:Pgap6'
| ID |
282755 |
| 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 # |
IGL02167
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26332290-26342228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26338045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 450
(S450P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025010]
[ENSMUST00000025014]
[ENSMUST00000128597]
|
| AlphaFold |
Q9ESN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025010
AA Change: S450P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: S450P
| 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
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,122,721 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
T |
C |
X: 7,482,258 (GRCm39) |
Y581H |
probably damaging |
Het |
| Camsap1 |
C |
T |
2: 25,824,312 (GRCm39) |
R1416H |
probably damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,481,333 (GRCm39) |
E266G |
possibly damaging |
Het |
| Ccdc9 |
A |
T |
7: 16,018,284 (GRCm39) |
L8* |
probably null |
Het |
| Cited2 |
T |
C |
10: 17,600,018 (GRCm39) |
S109P |
probably benign |
Het |
| Cnot4 |
T |
C |
6: 35,033,159 (GRCm39) |
D286G |
possibly damaging |
Het |
| Col5a1 |
T |
C |
2: 27,908,568 (GRCm39) |
I52T |
probably benign |
Het |
| Cry2 |
T |
C |
2: 92,264,166 (GRCm39) |
N68S |
possibly damaging |
Het |
| Cul4a |
T |
C |
8: 13,172,826 (GRCm39) |
F153S |
probably damaging |
Het |
| Ddr1 |
T |
C |
17: 36,000,963 (GRCm39) |
S261G |
possibly damaging |
Het |
| Depdc5 |
G |
A |
5: 33,061,145 (GRCm39) |
R324Q |
probably damaging |
Het |
| Dmgdh |
A |
G |
13: 93,857,135 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,658,405 (GRCm39) |
M990K |
probably damaging |
Het |
| Gpr137c |
G |
T |
14: 45,517,412 (GRCm39) |
G383C |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,145,055 (GRCm39) |
I802N |
possibly damaging |
Het |
| Ifne |
A |
G |
4: 88,798,065 (GRCm39) |
Y118H |
possibly damaging |
Het |
| Kansl2 |
T |
C |
15: 98,431,396 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
T |
A |
8: 10,021,821 (GRCm39) |
N653I |
probably benign |
Het |
| Nagk |
A |
G |
6: 83,778,088 (GRCm39) |
D246G |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,398,699 (GRCm39) |
S628P |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,912,056 (GRCm39) |
Y1401C |
probably damaging |
Het |
| Ndufa9 |
A |
G |
6: 126,821,748 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
G |
T |
14: 56,100,792 (GRCm39) |
R194L |
probably damaging |
Het |
| Or10a4 |
A |
T |
7: 106,696,868 (GRCm39) |
R65S |
probably benign |
Het |
| Or10ag53 |
G |
A |
2: 87,082,542 (GRCm39) |
C87Y |
probably benign |
Het |
| Or13a17 |
T |
A |
7: 140,271,664 (GRCm39) |
V282D |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,522,798 (GRCm39) |
|
probably benign |
Het |
| Oxgr1 |
T |
A |
14: 120,259,342 (GRCm39) |
R288S |
probably damaging |
Het |
| Prkcg |
T |
C |
7: 3,371,097 (GRCm39) |
|
probably null |
Het |
| Prox1 |
T |
C |
1: 189,893,477 (GRCm39) |
N323D |
probably benign |
Het |
| Prrt1 |
A |
C |
17: 34,850,829 (GRCm39) |
E215A |
possibly damaging |
Het |
| Rab2b |
T |
C |
14: 52,506,153 (GRCm39) |
D103G |
probably damaging |
Het |
| Sardh |
G |
T |
2: 27,081,987 (GRCm39) |
N846K |
probably damaging |
Het |
| Slc38a8 |
T |
A |
8: 120,214,099 (GRCm39) |
T248S |
probably benign |
Het |
| Slc6a18 |
T |
C |
13: 73,814,591 (GRCm39) |
|
probably null |
Het |
| Smcp |
T |
C |
3: 92,491,506 (GRCm39) |
T114A |
unknown |
Het |
| Trpv1 |
A |
G |
11: 73,145,623 (GRCm39) |
N754D |
probably damaging |
Het |
| Txnrd1 |
A |
T |
10: 82,717,745 (GRCm39) |
H243L |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,109,023 (GRCm39) |
M125V |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,224,601 (GRCm39) |
|
probably null |
Het |
| Wrn |
T |
C |
8: 33,807,583 (GRCm39) |
M292V |
probably damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,189,140 (GRCm39) |
L20P |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,121,296 (GRCm39) |
H97R |
probably damaging |
Het |
| Zfp68 |
T |
A |
5: 138,604,629 (GRCm39) |
M565L |
probably benign |
Het |
| Zfp687 |
T |
C |
3: 94,917,841 (GRCm39) |
T644A |
probably benign |
Het |
| Zfp777 |
C |
T |
6: 48,021,460 (GRCm39) |
G54D |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation