Incidental Mutation 'IGL02697:Pigz'
ID |
303986 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pigz
|
Ensembl Gene |
ENSMUSG00000045625 |
Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class Z |
Synonyms |
F630022B06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02697
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
31752669-31764864 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 31763577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023460]
[ENSMUST00000052174]
[ENSMUST00000115178]
[ENSMUST00000126215]
[ENSMUST00000134666]
[ENSMUST00000134928]
[ENSMUST00000151412]
[ENSMUST00000202722]
|
AlphaFold |
Q8BTP0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023460
|
SMART Domains |
Protein: ENSMUSP00000023460 Gene: ENSMUSG00000022774
Domain | Start | End | E-Value | Type |
RRM
|
41 |
114 |
6.96e-23 |
SMART |
low complexity region
|
122 |
135 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052174
AA Change: W212R
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000057509 Gene: ENSMUSG00000045625 AA Change: W212R
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
7 |
446 |
1.3e-59 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115178
|
SMART Domains |
Protein: ENSMUSP00000110832 Gene: ENSMUSG00000022774
Domain | Start | End | E-Value | Type |
PDB:3FEY|B
|
1 |
103 |
7e-42 |
PDB |
Blast:RRM
|
41 |
61 |
2e-6 |
BLAST |
SCOP:d1qm9a1
|
41 |
97 |
4e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000126215
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134666
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134928
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140965
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151412
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202722
|
SMART Domains |
Protein: ENSMUSP00000143811 Gene: ENSMUSG00000107002
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
low complexity region
|
47 |
55 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg2 |
A |
T |
4: 47,471,772 (GRCm39) |
N345K |
probably damaging |
Het |
Atp13a5 |
T |
A |
16: 29,167,350 (GRCm39) |
H151L |
probably benign |
Het |
C2cd3 |
T |
C |
7: 100,076,376 (GRCm39) |
|
probably benign |
Het |
Cep57l1 |
G |
T |
10: 41,598,950 (GRCm39) |
P212T |
possibly damaging |
Het |
Coch |
G |
A |
12: 51,643,821 (GRCm39) |
A135T |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cul5 |
A |
G |
9: 53,566,631 (GRCm39) |
S134P |
probably benign |
Het |
Cyp4f14 |
T |
C |
17: 33,124,597 (GRCm39) |
T485A |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,396,085 (GRCm39) |
F198S |
possibly damaging |
Het |
Dennd5a |
C |
A |
7: 109,493,988 (GRCm39) |
A1239S |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,645,607 (GRCm39) |
I822T |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,445,289 (GRCm39) |
M4142L |
probably benign |
Het |
Dyrk4 |
T |
A |
6: 126,875,971 (GRCm39) |
N88I |
possibly damaging |
Het |
Emc1 |
T |
C |
4: 139,079,955 (GRCm39) |
F9L |
probably benign |
Het |
Gga1 |
A |
G |
15: 78,769,546 (GRCm39) |
E173G |
probably damaging |
Het |
H1f7 |
T |
C |
15: 98,155,050 (GRCm39) |
K33R |
probably benign |
Het |
Hepacam2 |
A |
T |
6: 3,476,036 (GRCm39) |
H296Q |
possibly damaging |
Het |
Ipo9 |
G |
T |
1: 135,318,314 (GRCm39) |
Q699K |
probably benign |
Het |
Jmy |
A |
T |
13: 93,596,209 (GRCm39) |
Y473* |
probably null |
Het |
Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
Kit |
A |
G |
5: 75,767,919 (GRCm39) |
S101G |
probably benign |
Het |
Krtap4-9 |
T |
A |
11: 99,676,574 (GRCm39) |
V165E |
unknown |
Het |
Lnpep |
T |
A |
17: 17,773,455 (GRCm39) |
M639L |
probably benign |
Het |
Lrp10 |
C |
T |
14: 54,707,154 (GRCm39) |
P664S |
probably damaging |
Het |
Nrde2 |
A |
T |
12: 100,097,466 (GRCm39) |
L778H |
probably damaging |
Het |
Oat |
A |
T |
7: 132,171,684 (GRCm39) |
|
probably null |
Het |
Pfkl |
A |
T |
10: 77,835,752 (GRCm39) |
S219T |
probably benign |
Het |
Phtf1 |
C |
T |
3: 103,904,879 (GRCm39) |
A509V |
probably benign |
Het |
Pltp |
T |
A |
2: 164,682,446 (GRCm39) |
Y344F |
probably benign |
Het |
Ppp6r2 |
A |
G |
15: 89,140,958 (GRCm39) |
Y107C |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,451,614 (GRCm39) |
D1034G |
possibly damaging |
Het |
Rell1 |
C |
T |
5: 64,084,354 (GRCm39) |
V221I |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,336,910 (GRCm39) |
F1429S |
probably benign |
Het |
Slc22a28 |
T |
A |
19: 8,094,491 (GRCm39) |
T177S |
probably benign |
Het |
Stxbp5 |
G |
T |
10: 9,638,700 (GRCm39) |
S1033* |
probably null |
Het |
Tgs1 |
A |
G |
4: 3,585,564 (GRCm39) |
D147G |
probably benign |
Het |
Thumpd3 |
T |
A |
6: 113,044,256 (GRCm39) |
N423K |
probably benign |
Het |
Tns3 |
G |
T |
11: 8,442,346 (GRCm39) |
D672E |
probably benign |
Het |
Vmn2r61 |
T |
A |
7: 41,924,892 (GRCm39) |
V482E |
possibly damaging |
Het |
Vmn2r72 |
G |
T |
7: 85,387,879 (GRCm39) |
Q562K |
probably benign |
Het |
Zan |
T |
C |
5: 137,398,810 (GRCm39) |
T4185A |
unknown |
Het |
|
Other mutations in Pigz |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02963:Pigz
|
APN |
16 |
31,763,353 (GRCm39) |
missense |
probably damaging |
0.99 |
lust
|
UTSW |
16 |
31,763,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R0884:Pigz
|
UTSW |
16 |
31,760,794 (GRCm39) |
splice site |
probably null |
|
R1252:Pigz
|
UTSW |
16 |
31,760,808 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1776:Pigz
|
UTSW |
16 |
31,763,397 (GRCm39) |
missense |
probably damaging |
0.99 |
R4744:Pigz
|
UTSW |
16 |
31,764,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R5480:Pigz
|
UTSW |
16 |
31,763,439 (GRCm39) |
missense |
probably damaging |
0.97 |
R5793:Pigz
|
UTSW |
16 |
31,764,285 (GRCm39) |
missense |
probably benign |
0.00 |
R5905:Pigz
|
UTSW |
16 |
31,764,246 (GRCm39) |
missense |
probably benign |
0.26 |
R6025:Pigz
|
UTSW |
16 |
31,764,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R6251:Pigz
|
UTSW |
16 |
31,764,424 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6297:Pigz
|
UTSW |
16 |
31,763,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R6735:Pigz
|
UTSW |
16 |
31,764,361 (GRCm39) |
missense |
probably benign |
0.01 |
R6770:Pigz
|
UTSW |
16 |
31,764,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R6855:Pigz
|
UTSW |
16 |
31,764,036 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7541:Pigz
|
UTSW |
16 |
31,763,949 (GRCm39) |
missense |
probably benign |
0.00 |
R8080:Pigz
|
UTSW |
16 |
31,760,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R9336:Pigz
|
UTSW |
16 |
31,763,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R9402:Pigz
|
UTSW |
16 |
31,764,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R9756:Pigz
|
UTSW |
16 |
31,763,787 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pigz
|
UTSW |
16 |
31,763,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |