Incidental Mutation 'R5480:Pigz'
ID |
434282 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pigz
|
Ensembl Gene |
ENSMUSG00000045625 |
Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class Z |
Synonyms |
F630022B06Rik |
MMRRC Submission |
043041-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5480 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
31752669-31764864 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 31763439 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 166
(G166C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057509
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023460]
[ENSMUST00000052174]
[ENSMUST00000115178]
[ENSMUST00000126215]
[ENSMUST00000134666]
[ENSMUST00000134928]
[ENSMUST00000151412]
[ENSMUST00000202722]
|
AlphaFold |
Q8BTP0 |
Predicted Effect |
probably benign
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 |
probably damaging
Transcript: ENSMUST00000052174
AA Change: G166C
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000057509 Gene: ENSMUSG00000045625 AA Change: G166C
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 benign
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.7%
|
Validation Efficiency |
97% (56/58) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh7 |
A |
G |
17: 57,306,131 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
A |
G |
18: 65,482,979 (GRCm39) |
L343S |
probably damaging |
Het |
Btbd10 |
T |
A |
7: 112,915,914 (GRCm39) |
R392W |
probably damaging |
Het |
Camkv |
A |
G |
9: 107,824,074 (GRCm39) |
D216G |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,836,460 (GRCm39) |
D525G |
probably damaging |
Het |
Dqx1 |
A |
T |
6: 83,041,784 (GRCm39) |
D542V |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,662,441 (GRCm39) |
T539A |
probably benign |
Het |
Faap100 |
T |
C |
11: 120,267,939 (GRCm39) |
E278G |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,200,912 (GRCm39) |
S721P |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,857,424 (GRCm39) |
C2257* |
probably null |
Het |
Frem2 |
A |
T |
3: 53,563,928 (GRCm39) |
L193* |
probably null |
Het |
Gfy |
C |
A |
7: 44,826,657 (GRCm39) |
V394F |
probably benign |
Het |
Gipr |
A |
G |
7: 18,894,579 (GRCm39) |
L241P |
probably damaging |
Het |
Gm5478 |
A |
G |
15: 101,552,100 (GRCm39) |
S445P |
probably damaging |
Het |
Ift140 |
G |
T |
17: 25,239,550 (GRCm39) |
W69L |
probably damaging |
Het |
Kat6a |
T |
A |
8: 23,428,323 (GRCm39) |
M1226K |
possibly damaging |
Het |
Klk12 |
T |
G |
7: 43,420,482 (GRCm39) |
H140Q |
probably benign |
Het |
Map3k14 |
A |
G |
11: 103,130,330 (GRCm39) |
F196L |
probably benign |
Het |
Mblac2 |
T |
A |
13: 81,898,395 (GRCm39) |
V257E |
possibly damaging |
Het |
Pcdha11 |
A |
G |
18: 37,138,935 (GRCm39) |
E188G |
probably benign |
Het |
Pdzd7 |
T |
C |
19: 45,027,724 (GRCm39) |
N250S |
possibly damaging |
Het |
Phkb |
A |
G |
8: 86,648,811 (GRCm39) |
D209G |
probably damaging |
Het |
Pigs |
T |
G |
11: 78,219,901 (GRCm39) |
I92S |
possibly damaging |
Het |
Pkd1l2 |
C |
A |
8: 117,757,388 (GRCm39) |
R1550L |
probably damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,180,595 (GRCm39) |
V40A |
probably benign |
Het |
Plxna1 |
A |
T |
6: 89,301,616 (GRCm39) |
M1470K |
probably damaging |
Het |
Polq |
T |
A |
16: 36,833,652 (GRCm39) |
|
probably benign |
Het |
Prune2 |
A |
G |
19: 17,098,311 (GRCm39) |
T1272A |
possibly damaging |
Het |
Rfwd3 |
A |
T |
8: 112,000,464 (GRCm39) |
D720E |
probably damaging |
Het |
Rgs12 |
C |
G |
5: 35,123,455 (GRCm39) |
Q413E |
probably benign |
Het |
Rhobtb1 |
T |
A |
10: 69,106,563 (GRCm39) |
V376D |
possibly damaging |
Het |
Rrp8 |
C |
T |
7: 105,383,336 (GRCm39) |
S310N |
probably damaging |
Het |
S100a3 |
C |
T |
3: 90,509,591 (GRCm39) |
L79F |
probably damaging |
Het |
Setbp1 |
C |
A |
18: 78,901,278 (GRCm39) |
M796I |
probably damaging |
Het |
Sipa1 |
A |
G |
19: 5,709,658 (GRCm39) |
L254P |
possibly damaging |
Het |
Slc4a7 |
C |
G |
14: 14,782,138 (GRCm38) |
H964Q |
probably damaging |
Het |
Strc |
G |
T |
2: 121,195,300 (GRCm39) |
P1661Q |
probably benign |
Het |
Taf5l |
A |
T |
8: 124,736,559 (GRCm39) |
V4E |
possibly damaging |
Het |
Tbc1d15 |
T |
C |
10: 115,069,123 (GRCm39) |
E82G |
probably damaging |
Het |
Thada |
A |
G |
17: 84,739,682 (GRCm39) |
S858P |
probably benign |
Het |
Ticrr |
T |
C |
7: 79,310,557 (GRCm39) |
V157A |
probably damaging |
Het |
Trim21 |
T |
C |
7: 102,208,463 (GRCm39) |
T419A |
probably benign |
Het |
Vmn2r60 |
G |
T |
7: 41,785,154 (GRCm39) |
W122L |
probably damaging |
Het |
Vwa3b |
C |
A |
1: 37,139,787 (GRCm39) |
Y369* |
probably null |
Het |
Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
possibly damaging |
Het |
|
Other mutations in Pigz |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02697:Pigz
|
APN |
16 |
31,763,577 (GRCm39) |
splice site |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGGTGAGTGGCTACATGC -3'
(R):5'- CCTGATGCCACCAAGTTCTG -3'
Sequencing Primer
(F):5'- AGTGGCTACATGCTGCTG -3'
(R):5'- CCAAGTTCTGAAGCTCTATGGATGC -3'
|
Posted On |
2016-10-06 |