Incidental Mutation 'R3830:Pigb'
| ID |
273954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigb
|
| Ensembl Gene |
ENSMUSG00000079469 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
R3830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
73007419-73040378 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73017473 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 468
(N468S)
|
| 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 benign
Transcript: ENSMUST00000098566
AA Change: N468S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000096165
Gene: ENSMUSG00000079469
AA Change: N468S
| 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: 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: ENSMUST00000183746
AA Change: N468S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138885
Gene: ENSMUSG00000079469
AA Change: N468S
| 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 benign
Transcript: ENSMUST00000184035
AA Change: N468S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000139269
Gene: ENSMUSG00000079469
AA Change: N468S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184389
AA Change: N468S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000139076
Gene: ENSMUSG00000079469
AA Change: N468S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184776
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat5 |
A |
G |
8: 18,879,605 |
E250G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,255,511 |
T960S |
probably damaging |
Het |
| Bach2 |
T |
A |
4: 32,563,150 |
L539H |
probably damaging |
Het |
| Capn1 |
A |
T |
19: 5,994,847 |
L465Q |
probably damaging |
Het |
| Cd300c |
A |
G |
11: 114,959,627 |
F117L |
probably benign |
Het |
| Cep104 |
T |
G |
4: 153,984,943 |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,491,415 |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,209,650 |
G1341V |
probably damaging |
Het |
| Cspg4 |
T |
G |
9: 56,897,621 |
D1905E |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,431,613 |
K86R |
probably benign |
Het |
| Drd2 |
T |
A |
9: 49,402,143 |
V204D |
probably damaging |
Het |
| Gclc |
A |
T |
9: 77,791,960 |
I520L |
probably benign |
Het |
| Gpat3 |
A |
G |
5: 100,884,386 |
D183G |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,180,155 |
P286L |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,353,633 |
E563G |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,761,229 |
L332* |
probably null |
Het |
| Grpel1 |
T |
A |
5: 36,469,483 |
N36K |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,346,058 |
S198N |
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,104,796 |
I231T |
probably benign |
Het |
| Lpcat1 |
T |
C |
13: 73,489,093 |
I114T |
possibly damaging |
Het |
| Mast4 |
G |
T |
13: 102,738,811 |
H1350N |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,118,692 |
|
probably benign |
Het |
| Ntn1 |
C |
G |
11: 68,385,793 |
D110H |
probably damaging |
Het |
| Olfr222 |
G |
T |
11: 59,571,601 |
N46K |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 70,770,421 |
R452C |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,873,400 |
T123A |
probably damaging |
Het |
| Ptges3l |
T |
C |
11: 101,421,617 |
*67W |
probably null |
Het |
| Rgs12 |
G |
A |
5: 34,966,015 |
V381M |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,708,599 |
A47S |
probably benign |
Het |
| Rsg1 |
C |
T |
4: 141,218,589 |
R148C |
probably damaging |
Het |
| Six2 |
G |
T |
17: 85,685,187 |
S296Y |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,632,736 |
C392* |
probably null |
Het |
| Snx5 |
A |
T |
2: 144,254,901 |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,096,177 |
L1481P |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,220,108 |
I57V |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,399,951 |
Q368K |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,401,209 |
K2142N |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,619,878 |
F744Y |
probably damaging |
Het |
|
| Other mutations in Pigb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Pigb
|
APN |
9 |
73022291 |
missense |
probably damaging |
0.98 |
|
IGL01792:Pigb
|
APN |
9 |
73017986 |
missense |
probably damaging |
1.00 |
|
IGL02416:Pigb
|
APN |
9 |
73017432 |
missense |
probably benign |
0.00 |
|
R2396:Pigb
|
UTSW |
9 |
73015271 |
nonsense |
probably null |
|
|
R2914:Pigb
|
UTSW |
9 |
73039778 |
splice site |
probably null |
|
|
R5048:Pigb
|
UTSW |
9 |
73029708 |
critical splice acceptor site |
probably null |
|
|
R5158:Pigb
|
UTSW |
9 |
73022401 |
missense |
probably damaging |
1.00 |
|
R5180:Pigb
|
UTSW |
9 |
73034590 |
missense |
probably damaging |
0.99 |
|
R5385:Pigb
|
UTSW |
9 |
73039545 |
missense |
probably benign |
0.05 |
|
R5866:Pigb
|
UTSW |
9 |
73029684 |
missense |
probably damaging |
1.00 |
|
R7460:Pigb
|
UTSW |
9 |
73038675 |
missense |
probably damaging |
0.99 |
|
R7552:Pigb
|
UTSW |
9 |
73034488 |
missense |
probably benign |
0.30 |
|
R8005:Pigb
|
UTSW |
9 |
73015264 |
missense |
unknown |
|
|
R8136:Pigb
|
UTSW |
9 |
73022320 |
missense |
possibly damaging |
0.77 |
|
R8525:Pigb
|
UTSW |
9 |
73017527 |
missense |
probably damaging |
1.00 |
|
R8955:Pigb
|
UTSW |
9 |
73038701 |
missense |
probably damaging |
0.99 |
|
R8988:Pigb
|
UTSW |
9 |
73022294 |
missense |
probably damaging |
1.00 |
|
R9526:Pigb
|
UTSW |
9 |
73034558 |
missense |
probably damaging |
0.99 |
|
Z1176:Pigb
|
UTSW |
9 |
73034572 |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGCACACTTCCTAAGTTTGTAAG -3'
(R):5'- AACTTGGACGCTTGTGCTTG -3'
Sequencing Primer
(F):5'- AAGACCTGCCCTGAATGTG -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation