Incidental Mutation 'R1252:Pigz'
| ID |
151819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigz
|
| Ensembl Gene |
ENSMUSG00000045625 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class Z |
| Synonyms |
F630022B06Rik |
| MMRRC Submission |
039319-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
31752669-31764864 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31760808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 3
(V3E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052174]
[ENSMUST00000134666]
[ENSMUST00000134928]
[ENSMUST00000151412]
|
| AlphaFold |
Q8BTP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052174
AA Change: V3E
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000057509
Gene: ENSMUSG00000045625
AA Change: V3E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
7 |
446 |
1.3e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134666
AA Change: V3E
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134928
AA Change: V3E
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151412
AA Change: V3E
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.2%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acsm2 |
C |
T |
7: 119,172,468 (GRCm39) |
H104Y |
probably benign |
Het |
| Adgrb3 |
G |
A |
1: 25,167,909 (GRCm39) |
T1009M |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,701,877 (GRCm39) |
K755E |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,367,140 (GRCm39) |
D2491E |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,964,077 (GRCm39) |
S1706P |
probably benign |
Het |
| Capn13 |
C |
T |
17: 73,674,222 (GRCm39) |
G77D |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,862,444 (GRCm38) |
D370G |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,741,962 (GRCm39) |
K133E |
possibly damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,614,585 (GRCm39) |
M314T |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,945,985 (GRCm39) |
D542G |
probably damaging |
Het |
| Dpys |
A |
T |
15: 39,687,636 (GRCm39) |
N387K |
probably damaging |
Het |
| Erc1 |
A |
T |
6: 119,720,353 (GRCm39) |
D749E |
possibly damaging |
Het |
| Gucy2e |
A |
T |
11: 69,126,485 (GRCm39) |
F298L |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,239,269 (GRCm39) |
V304A |
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,279,912 (GRCm39) |
C1363S |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,711 (GRCm39) |
Y295H |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,138,019 (GRCm39) |
V396A |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,345,311 (GRCm39) |
D105G |
probably benign |
Het |
| Lrrc45 |
C |
A |
11: 120,606,297 (GRCm39) |
T135N |
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,212,918 (GRCm39) |
A548T |
probably benign |
Het |
| Nectin2 |
T |
G |
7: 19,451,523 (GRCm39) |
I504L |
probably benign |
Het |
| Nmbr |
T |
C |
10: 14,636,187 (GRCm39) |
I52T |
probably benign |
Het |
| Nop14 |
A |
T |
5: 34,807,899 (GRCm39) |
N354K |
probably benign |
Het |
| Olfm1 |
A |
G |
2: 28,119,447 (GRCm39) |
I361V |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Ovol1 |
T |
C |
19: 5,603,629 (GRCm39) |
T91A |
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,635,420 (GRCm39) |
N4S |
probably benign |
Het |
| Slc23a2 |
A |
T |
2: 131,904,117 (GRCm39) |
|
probably null |
Het |
| Slc66a2 |
A |
G |
18: 80,334,813 (GRCm39) |
T211A |
possibly damaging |
Het |
| Speg |
A |
T |
1: 75,403,739 (GRCm39) |
D2640V |
probably damaging |
Het |
| Trip12 |
G |
A |
1: 84,754,071 (GRCm39) |
Q111* |
probably null |
Het |
| Trub2 |
A |
G |
2: 29,672,170 (GRCm39) |
F141S |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,693,729 (GRCm39) |
|
probably null |
Het |
| Zfp935 |
A |
G |
13: 62,602,355 (GRCm39) |
F282L |
probably damaging |
Het |
| Zfp946 |
G |
T |
17: 22,672,560 (GRCm39) |
|
probably null |
Het |
| Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGGGATTACTGGGTACACGAC -3'
(R):5'- TGCAACTTTGCCAGTTCATGCATC -3'
Sequencing Primer
(F):5'- cttcttcttcttcttcttcttctcc -3'
(R):5'- GCCAGTTCATGCATCTACAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation