Incidental Mutation 'IGL02416:Pigb'
| ID |
292459 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pigb
|
| Ensembl Gene |
ENSMUSG00000079469 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.718)
|
| Stock # |
IGL02416
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
72920639-72946973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72924714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 482
(S482P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037977]
[ENSMUST00000085350]
[ENSMUST00000093819]
[ENSMUST00000098566]
[ENSMUST00000124008]
[ENSMUST00000140675]
[ENSMUST00000184035]
[ENSMUST00000183746]
[ENSMUST00000184389]
[ENSMUST00000149692]
[ENSMUST00000150826]
|
| AlphaFold |
Q9JJQ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037977
|
| SMART Domains |
Protein: ENSMUSP00000045669
Gene: ENSMUSG00000034563
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
209 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
coiled coil region
|
296 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085350
|
| SMART Domains |
Protein: ENSMUSP00000082458
Gene: ENSMUSG00000034563
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
209 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
coiled coil region
|
296 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098566
AA Change: S482P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000096165
Gene: ENSMUSG00000079469
AA Change: S482P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
51 |
438 |
4.7e-122 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124008
|
| SMART Domains |
Protein: ENSMUSP00000121059
Gene: ENSMUSG00000034563
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
94 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138466
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140675
|
| SMART Domains |
Protein: ENSMUSP00000116976
Gene: ENSMUSG00000034563
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
209 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
coiled coil region
|
296 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184035
AA Change: S482P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000139269
Gene: ENSMUSG00000079469
AA Change: S482P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183746
AA Change: S482P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000138885
Gene: ENSMUSG00000079469
AA Change: S482P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184389
AA Change: S482P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000139076
Gene: ENSMUSG00000079469
AA Change: S482P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184776
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149692
|
| SMART Domains |
Protein: ENSMUSP00000120629
Gene: ENSMUSG00000089865
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CS
|
6 |
77 |
2.1e-9 |
PFAM |
|
coiled coil region
|
101 |
161 |
N/A |
INTRINSIC |
|
Pfam:TPR_11
|
286 |
352 |
2e-14 |
PFAM |
|
Pfam:TPR_1
|
322 |
352 |
5.6e-6 |
PFAM |
|
Blast:TPR
|
364 |
386 |
1e-5 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150826
|
| SMART Domains |
Protein: ENSMUSP00000122966
Gene: ENSMUSG00000034563
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
209 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
coiled coil region
|
296 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183904
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [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 |
|---|
| Adamdec1 |
T |
C |
14: 68,810,282 (GRCm39) |
N227S |
probably null |
Het |
| Adgrf5 |
T |
G |
17: 43,755,871 (GRCm39) |
|
probably null |
Het |
| Arid2 |
G |
A |
15: 96,247,936 (GRCm39) |
G116D |
possibly damaging |
Het |
| Arsa |
T |
A |
15: 89,358,991 (GRCm39) |
H225L |
probably damaging |
Het |
| Atf6 |
T |
A |
1: 170,574,726 (GRCm39) |
K571* |
probably null |
Het |
| Bicdl1 |
A |
C |
5: 115,801,944 (GRCm39) |
L38R |
probably damaging |
Het |
| Cct4 |
T |
C |
11: 22,952,868 (GRCm39) |
S515P |
probably damaging |
Het |
| Celsr3 |
A |
C |
9: 108,709,318 (GRCm39) |
D1388A |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,790,777 (GRCm39) |
T432A |
probably benign |
Het |
| Des |
T |
A |
1: 75,339,372 (GRCm39) |
|
probably null |
Het |
| Dock11 |
T |
A |
X: 35,283,739 (GRCm39) |
V1119E |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,169,896 (GRCm39) |
N1763S |
possibly damaging |
Het |
| Emilin1 |
A |
G |
5: 31,075,132 (GRCm39) |
S458G |
possibly damaging |
Het |
| Fhdc1 |
T |
G |
3: 84,352,535 (GRCm39) |
M897L |
probably benign |
Het |
| Foxj1 |
T |
C |
11: 116,222,829 (GRCm39) |
S325G |
probably benign |
Het |
| Gm5407 |
A |
G |
16: 49,117,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6576 |
T |
C |
15: 27,026,073 (GRCm39) |
|
noncoding transcript |
Het |
| Hells |
G |
A |
19: 38,953,071 (GRCm39) |
S743N |
probably benign |
Het |
| Ighv2-9-1 |
A |
T |
12: 113,733,731 (GRCm39) |
L30Q |
probably damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,375,786 (GRCm39) |
L1363H |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,299,977 (GRCm39) |
D3025G |
probably damaging |
Het |
| Mef2d |
C |
T |
3: 88,063,809 (GRCm39) |
R79C |
probably damaging |
Het |
| Mical1 |
G |
T |
10: 41,360,806 (GRCm39) |
|
probably null |
Het |
| Micu2 |
A |
T |
14: 58,161,422 (GRCm39) |
V300E |
probably damaging |
Het |
| Mmgt2 |
T |
C |
11: 62,555,703 (GRCm39) |
L17P |
probably damaging |
Het |
| Or4p21 |
A |
G |
2: 88,277,174 (GRCm39) |
I36T |
probably benign |
Het |
| Or7c19 |
T |
A |
8: 85,957,662 (GRCm39) |
C179* |
probably null |
Het |
| Or7e177 |
A |
T |
9: 20,211,541 (GRCm39) |
E15V |
probably benign |
Het |
| Pkd1l2 |
T |
A |
8: 117,767,574 (GRCm39) |
T1239S |
possibly damaging |
Het |
| Pou1f1 |
T |
C |
16: 65,328,842 (GRCm39) |
I187T |
probably damaging |
Het |
| Prox1 |
C |
T |
1: 189,893,327 (GRCm39) |
A373T |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,451,962 (GRCm39) |
I954T |
probably benign |
Het |
| Scube3 |
T |
G |
17: 28,383,110 (GRCm39) |
C429W |
probably damaging |
Het |
| Slco6b1 |
T |
A |
1: 96,852,058 (GRCm39) |
|
noncoding transcript |
Het |
| Strc |
A |
T |
2: 121,199,539 (GRCm39) |
I1300N |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,935,629 (GRCm39) |
R1806S |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,288,438 (GRCm39) |
L860Q |
probably damaging |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,605 (GRCm39) |
R219G |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,753,826 (GRCm39) |
S649G |
probably damaging |
Het |
|
| Other mutations in Pigb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Pigb
|
APN |
9 |
72,929,573 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01792:Pigb
|
APN |
9 |
72,925,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2396:Pigb
|
UTSW |
9 |
72,922,553 (GRCm39) |
nonsense |
probably null |
|
|
R2914:Pigb
|
UTSW |
9 |
72,947,060 (GRCm39) |
splice site |
probably null |
|
|
R3830:Pigb
|
UTSW |
9 |
72,924,755 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5048:Pigb
|
UTSW |
9 |
72,936,990 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5158:Pigb
|
UTSW |
9 |
72,929,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5180:Pigb
|
UTSW |
9 |
72,941,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5385:Pigb
|
UTSW |
9 |
72,946,827 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5866:Pigb
|
UTSW |
9 |
72,936,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Pigb
|
UTSW |
9 |
72,945,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7552:Pigb
|
UTSW |
9 |
72,941,770 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8005:Pigb
|
UTSW |
9 |
72,922,546 (GRCm39) |
missense |
unknown |
|
|
R8136:Pigb
|
UTSW |
9 |
72,929,602 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8525:Pigb
|
UTSW |
9 |
72,924,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Pigb
|
UTSW |
9 |
72,945,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8988:Pigb
|
UTSW |
9 |
72,929,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Pigb
|
UTSW |
9 |
72,941,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Pigb
|
UTSW |
9 |
72,941,854 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation