Incidental Mutation 'R8525:Pigb'
| ID |
658771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigb
|
| Ensembl Gene |
ENSMUSG00000079469 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class B |
| Synonyms |
|
| MMRRC Submission |
067950-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.754)
|
| Stock # |
R8525 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72920639-72946973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72924809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 450
(P450Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037977]
[ENSMUST00000085350]
[ENSMUST00000093819]
[ENSMUST00000098566]
[ENSMUST00000124008]
[ENSMUST00000140675]
[ENSMUST00000149692]
[ENSMUST00000150826]
[ENSMUST00000183746]
[ENSMUST00000184035]
[ENSMUST00000184389]
|
| 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 damaging
Transcript: ENSMUST00000098566
AA Change: P450Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096165
Gene: ENSMUSG00000079469
AA Change: P450Q
| 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 |
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: 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 damaging
Transcript: ENSMUST00000183746
AA Change: P450Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138885
Gene: ENSMUSG00000079469
AA Change: P450Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183904
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184035
AA Change: P450Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139269
Gene: ENSMUSG00000079469
AA Change: P450Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184389
AA Change: P450Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139076
Gene: ENSMUSG00000079469
AA Change: P450Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (49/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
T |
7: 27,255,936 (GRCm39) |
N8Y |
possibly damaging |
Het |
| 4932414N04Rik |
A |
T |
2: 68,559,378 (GRCm39) |
D197V |
possibly damaging |
Het |
| Aar2 |
G |
A |
2: 156,397,837 (GRCm39) |
R283Q |
probably benign |
Het |
| Acsf2 |
T |
A |
11: 94,463,446 (GRCm39) |
I119F |
probably benign |
Het |
| Adamtsl1 |
C |
T |
4: 86,195,247 (GRCm39) |
P572S |
probably damaging |
Het |
| Adh5 |
A |
T |
3: 138,157,095 (GRCm39) |
I219F |
probably damaging |
Het |
| Arhgap23 |
T |
A |
11: 97,380,910 (GRCm39) |
F1098I |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,779,365 (GRCm39) |
H674Q |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,853 (GRCm39) |
R786H |
probably benign |
Het |
| Ccr1l1 |
A |
G |
9: 123,777,589 (GRCm39) |
I286T |
possibly damaging |
Het |
| Ccr9 |
T |
A |
9: 123,608,732 (GRCm39) |
M138K |
probably benign |
Het |
| Dbh |
T |
C |
2: 27,055,798 (GRCm39) |
F91L |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,110,115 (GRCm39) |
|
probably null |
Het |
| Eif3j1 |
A |
G |
2: 121,880,991 (GRCm39) |
I148V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,534,892 (GRCm39) |
R116G |
probably damaging |
Het |
| Exoc6 |
C |
A |
19: 37,597,440 (GRCm39) |
Q614K |
possibly damaging |
Het |
| Gabpb1 |
A |
G |
2: 126,494,194 (GRCm39) |
S144P |
possibly damaging |
Het |
| Galnt13 |
G |
A |
2: 54,950,488 (GRCm39) |
V390M |
possibly damaging |
Het |
| Gimap5 |
T |
C |
6: 48,729,501 (GRCm39) |
S24P |
probably benign |
Het |
| Gm4924 |
T |
A |
10: 82,213,701 (GRCm39) |
|
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,865,365 (GRCm39) |
I613K |
probably damaging |
Het |
| Hsp90ab1 |
T |
A |
17: 45,880,726 (GRCm39) |
E115D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,266,759 (GRCm39) |
V1949A |
probably damaging |
Het |
| Ice2 |
A |
G |
9: 69,318,698 (GRCm39) |
Y294C |
probably damaging |
Het |
| Il17ra |
T |
G |
6: 120,451,298 (GRCm39) |
Y157* |
probably null |
Het |
| Ipo13 |
T |
C |
4: 117,762,126 (GRCm39) |
E416G |
probably damaging |
Het |
| Large1 |
C |
T |
8: 73,564,120 (GRCm39) |
V549M |
probably damaging |
Het |
| Mmp17 |
A |
G |
5: 129,679,271 (GRCm39) |
D390G |
probably damaging |
Het |
| Mrps10 |
T |
G |
17: 47,683,371 (GRCm39) |
I102R |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,450,155 (GRCm39) |
L1712P |
probably damaging |
Het |
| Nipal2 |
A |
G |
15: 34,584,815 (GRCm39) |
M251T |
probably damaging |
Het |
| Nup160 |
G |
A |
2: 90,548,440 (GRCm39) |
|
probably null |
Het |
| Or5ac19 |
A |
T |
16: 59,089,571 (GRCm39) |
V153D |
probably benign |
Het |
| Or6f2 |
T |
C |
7: 139,756,255 (GRCm39) |
I74T |
probably damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,081,337 (GRCm39) |
D34N |
possibly damaging |
Het |
| Radil |
A |
C |
5: 142,474,256 (GRCm39) |
L730R |
probably damaging |
Het |
| Rsbn1 |
G |
T |
3: 103,821,538 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
T |
C |
3: 129,805,467 (GRCm39) |
D264G |
probably damaging |
Het |
| Shank3 |
C |
G |
15: 89,431,973 (GRCm39) |
S906C |
probably damaging |
Het |
| Slc1a3 |
A |
G |
15: 8,672,459 (GRCm39) |
V340A |
possibly damaging |
Het |
| Slc1a3 |
A |
T |
15: 8,680,423 (GRCm39) |
I145N |
possibly damaging |
Het |
| Slc35f4 |
A |
T |
14: 49,541,681 (GRCm39) |
S208T |
possibly damaging |
Het |
| Spopfm1 |
A |
G |
3: 94,173,862 (GRCm39) |
N290S |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,715,380 (GRCm39) |
D363G |
probably benign |
Het |
| Tox3 |
T |
G |
8: 91,001,309 (GRCm39) |
N34T |
probably damaging |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,001 (GRCm39) |
I305L |
probably benign |
Het |
| Vps18 |
A |
G |
2: 119,120,711 (GRCm39) |
I57V |
possibly damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,464,603 (GRCm39) |
L1587R |
probably damaging |
Het |
| Zfp112 |
A |
G |
7: 23,825,322 (GRCm39) |
N430S |
probably benign |
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 |
|
IGL02416:Pigb
|
APN |
9 |
72,924,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCAGATGGTTGTTAATCGAATG -3'
(R):5'- GAAACTTGGACGCTTGTGC -3'
Sequencing Primer
(F):5'- GAAAACCTTTGAGTTGACATACCTTC -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation