Incidental Mutation 'R6735:Pigz'
| ID |
530205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigz
|
| Ensembl Gene |
ENSMUSG00000045625 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class Z |
| Synonyms |
F630022B06Rik |
| MMRRC Submission |
044853-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6735 (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 G
at 31764361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 473
(N473S)
|
| 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 benign
Transcript: ENSMUST00000052174
AA Change: N473S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000057509
Gene: ENSMUSG00000045625
AA Change: N473S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
A |
G |
4: 148,026,274 (GRCm39) |
T265A |
probably benign |
Het |
| Adap1 |
A |
T |
5: 139,278,900 (GRCm39) |
Y127N |
probably damaging |
Het |
| Alg8 |
T |
C |
7: 97,032,189 (GRCm39) |
F246S |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,518,098 (GRCm39) |
Y68H |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,966 (GRCm39) |
S906P |
probably benign |
Het |
| C9 |
A |
T |
15: 6,519,387 (GRCm39) |
D408V |
probably benign |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Cpeb4 |
T |
A |
11: 31,874,700 (GRCm39) |
Y174N |
probably benign |
Het |
| Enpp3 |
A |
G |
10: 24,683,351 (GRCm39) |
Y289H |
probably damaging |
Het |
| Erbin |
A |
T |
13: 104,020,718 (GRCm39) |
D80E |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,910,182 (GRCm39) |
E829V |
possibly damaging |
Het |
| Foxn2 |
T |
G |
17: 88,794,223 (GRCm39) |
S387A |
probably benign |
Het |
| Hapstr1 |
T |
A |
16: 8,673,764 (GRCm39) |
H230Q |
probably benign |
Het |
| Irag2 |
T |
C |
6: 145,106,619 (GRCm39) |
L201S |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
| Lhx6 |
T |
G |
2: 35,981,390 (GRCm39) |
D67A |
probably damaging |
Het |
| Lmbr1l |
A |
T |
15: 98,807,121 (GRCm39) |
M220K |
probably damaging |
Het |
| Macroh2a2 |
A |
G |
10: 61,577,046 (GRCm39) |
I274T |
probably damaging |
Het |
| Naa35 |
T |
C |
13: 59,773,378 (GRCm39) |
L111P |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,041,902 (GRCm39) |
V1307E |
probably damaging |
Het |
| Nts |
T |
A |
10: 102,320,859 (GRCm39) |
M77L |
probably benign |
Het |
| Or5m11b |
A |
C |
2: 85,805,778 (GRCm39) |
S64R |
possibly damaging |
Het |
| Pkd2 |
A |
G |
5: 104,628,195 (GRCm39) |
D423G |
probably damaging |
Het |
| Plac8 |
A |
G |
5: 100,710,485 (GRCm39) |
|
probably null |
Het |
| Ppp2r2b |
T |
C |
18: 42,821,653 (GRCm39) |
|
probably null |
Het |
| Proc |
T |
C |
18: 32,256,701 (GRCm39) |
N322S |
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,573,398 (GRCm39) |
|
probably null |
Het |
| Safb |
A |
G |
17: 56,892,169 (GRCm39) |
|
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,341,486 (GRCm39) |
D216G |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,215,048 (GRCm39) |
E345G |
possibly damaging |
Het |
| Sult2a5 |
A |
T |
7: 13,398,983 (GRCm39) |
K197* |
probably null |
Het |
| Suv39h1 |
C |
A |
X: 7,929,138 (GRCm39) |
R397L |
probably damaging |
Homo |
| Thbs4 |
T |
A |
13: 92,891,674 (GRCm39) |
M814L |
possibly damaging |
Het |
| Tmem14a |
T |
A |
1: 21,299,805 (GRCm39) |
|
probably benign |
Het |
| Tmprss11d |
C |
A |
5: 86,457,159 (GRCm39) |
A167S |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,629,252 (GRCm39) |
C14362F |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 123,004,272 (GRCm39) |
I161V |
possibly damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,181,138 (GRCm39) |
L134P |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,713,586 (GRCm39) |
E73G |
possibly damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,358,402 (GRCm39) |
M617K |
possibly damaging |
Het |
| Zc3h3 |
G |
A |
15: 75,628,483 (GRCm39) |
T937I |
probably benign |
Het |
| Zeb2 |
C |
T |
2: 45,000,028 (GRCm39) |
V25M |
probably null |
Het |
| Zfp108 |
T |
C |
7: 23,961,197 (GRCm39) |
F596S |
probably damaging |
Het |
| Zfyve1 |
T |
A |
12: 83,641,618 (GRCm39) |
N13Y |
possibly damaging |
Het |
| Zswim2 |
T |
C |
2: 83,754,105 (GRCm39) |
D185G |
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 |
|
|
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 |
|
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'- AGATAGTCCACACGCCTGAC -3'
(R):5'- GCGTCTCCAGTTCTATGACATG -3'
Sequencing Primer
(F):5'- TGACCTCTCAGGCACGAC -3'
(R):5'- GTCTCCAGTTCTATGACATGGAGAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation