Incidental Mutation 'R6297:Pigz'
| ID |
508862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigz
|
| Ensembl Gene |
ENSMUSG00000045625 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class Z |
| Synonyms |
F630022B06Rik |
| MMRRC Submission |
044464-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6297 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
31752669-31764864 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31763755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 271
(Y271F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023460]
[ENSMUST00000052174]
[ENSMUST00000115178]
[ENSMUST00000126215]
[ENSMUST00000134666]
[ENSMUST00000134928]
[ENSMUST00000202722]
[ENSMUST00000151412]
|
| 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: Y271F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057509
Gene: ENSMUSG00000045625
AA Change: Y271F
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151412
|
| Meta Mutation Damage Score |
0.5331 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (45/46) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,926,179 (GRCm39) |
V1205A |
probably benign |
Het |
| Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
| Ate1 |
A |
G |
7: 130,105,570 (GRCm39) |
V316A |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,986,180 (GRCm39) |
I102V |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,557,655 (GRCm39) |
|
probably null |
Het |
| Ccdc47 |
T |
C |
11: 106,094,427 (GRCm39) |
Y324C |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,985,564 (GRCm39) |
K341E |
possibly damaging |
Het |
| Cenpb |
A |
G |
2: 131,020,289 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
A |
G |
1: 87,853,866 (GRCm39) |
I570V |
possibly damaging |
Het |
| Dhx32 |
A |
T |
7: 133,344,529 (GRCm39) |
Y27N |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,852,144 (GRCm39) |
D1824G |
possibly damaging |
Het |
| Fbxo8 |
T |
A |
8: 57,022,323 (GRCm39) |
C112S |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,800,980 (GRCm39) |
D590G |
probably damaging |
Het |
| Gm19965 |
T |
A |
1: 116,750,410 (GRCm39) |
I697N |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,469,494 (GRCm39) |
D170N |
probably damaging |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Igfn1 |
A |
T |
1: 135,892,399 (GRCm39) |
|
probably null |
Het |
| Ighg2b |
T |
C |
12: 113,270,512 (GRCm39) |
E206G |
unknown |
Het |
| Ints15 |
A |
T |
5: 143,293,787 (GRCm39) |
L230Q |
possibly damaging |
Het |
| Lman2 |
T |
C |
13: 55,496,244 (GRCm39) |
N267S |
probably damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,890,348 (GRCm39) |
I546F |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,459,964 (GRCm39) |
S197P |
probably damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,553,027 (GRCm39) |
Y793H |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,730,054 (GRCm39) |
R2799* |
probably null |
Het |
| Mup13 |
T |
A |
4: 61,181,634 (GRCm39) |
I148F |
probably benign |
Het |
| Or2aj5 |
A |
C |
16: 19,424,680 (GRCm39) |
V246G |
possibly damaging |
Het |
| Or5m10 |
A |
G |
2: 85,717,159 (GRCm39) |
N5S |
probably benign |
Het |
| Or8g53 |
A |
T |
9: 39,683,522 (GRCm39) |
D191E |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,334,135 (GRCm39) |
K403E |
possibly damaging |
Het |
| Plekhg4 |
T |
C |
8: 106,104,472 (GRCm39) |
L517P |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,642,132 (GRCm39) |
L232P |
probably damaging |
Het |
| Rpa3 |
C |
A |
6: 8,256,767 (GRCm39) |
G71* |
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,287,584 (GRCm39) |
T623A |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,488,641 (GRCm39) |
D597G |
probably damaging |
Het |
| Stpg2 |
T |
C |
3: 139,407,432 (GRCm39) |
V528A |
possibly damaging |
Het |
| Supt6 |
C |
T |
11: 78,116,885 (GRCm39) |
R589Q |
possibly damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,389,361 (GRCm39) |
M419K |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,389,243 (GRCm39) |
T486A |
probably benign |
Het |
| Vamp9 |
A |
G |
5: 100,089,092 (GRCm39) |
Y119C |
probably damaging |
Het |
| Vmn1r185 |
A |
G |
7: 26,311,046 (GRCm39) |
V153A |
probably benign |
Het |
| Vmn2r48 |
T |
C |
7: 9,668,807 (GRCm39) |
N548D |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,895 (GRCm39) |
I378T |
possibly damaging |
Het |
| Wdr37 |
A |
G |
13: 8,892,764 (GRCm39) |
|
probably null |
Het |
| Xrn2 |
G |
A |
2: 146,868,490 (GRCm39) |
R181H |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
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 |
|
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 |
|
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'- AACCGGCCAACCTTTCTAGC -3'
(R):5'- TTGGAGCTAGACAACAGACCC -3'
Sequencing Primer
(F):5'- TCTCTGGGGCATCCATAGAG -3'
(R):5'- TAGACAACAGACCCCGGGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation