Incidental Mutation 'R5158:Pigb'
ID |
396837 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pigb
|
Ensembl Gene |
ENSMUSG00000079469 |
Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class B |
Synonyms |
|
MMRRC Submission |
042740-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.754)
|
Stock # |
R5158 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
72920639-72946973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72929683 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 300
(Y300C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139076
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098566]
[ENSMUST00000183746]
[ENSMUST00000184035]
[ENSMUST00000184389]
|
AlphaFold |
Q9JJQ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098566
AA Change: Y300C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096165 Gene: ENSMUSG00000079469 AA Change: Y300C
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
4.7e-122 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183746
AA Change: Y300C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138885 Gene: ENSMUSG00000079469 AA Change: Y300C
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: Y300C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139269 Gene: ENSMUSG00000079469 AA Change: Y300C
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000184389
AA Change: Y300C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139076 Gene: ENSMUSG00000079469 AA Change: Y300C
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184776
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194364
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.9%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
C |
T |
17: 45,825,755 (GRCm39) |
T357I |
probably benign |
Het |
Abca14 |
A |
T |
7: 119,852,652 (GRCm39) |
R872S |
probably benign |
Het |
Adnp2 |
A |
G |
18: 80,180,758 (GRCm39) |
Y47H |
probably damaging |
Het |
Atp6v0d2 |
T |
C |
4: 19,878,292 (GRCm39) |
N327S |
probably damaging |
Het |
Ccdc190 |
A |
G |
1: 169,760,578 (GRCm39) |
R69G |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,901,059 (GRCm39) |
D213G |
probably damaging |
Het |
Clcn4 |
G |
A |
7: 7,294,618 (GRCm39) |
T381I |
possibly damaging |
Het |
Cobl |
A |
G |
11: 12,206,198 (GRCm39) |
F477S |
possibly damaging |
Het |
Ctdspl2 |
T |
A |
2: 121,811,774 (GRCm39) |
V205E |
probably benign |
Het |
Dhx37 |
A |
T |
5: 125,492,216 (GRCm39) |
Y1128N |
probably damaging |
Het |
Ehmt2 |
G |
A |
17: 35,130,640 (GRCm39) |
E1085K |
probably damaging |
Het |
Fam149a |
T |
G |
8: 45,803,472 (GRCm39) |
I340L |
possibly damaging |
Het |
Fut9 |
T |
A |
4: 25,620,731 (GRCm39) |
I28F |
probably benign |
Het |
Il36g |
T |
A |
2: 24,082,798 (GRCm39) |
I191K |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,392,816 (GRCm39) |
N716D |
probably benign |
Het |
Itgb7 |
T |
C |
15: 102,125,464 (GRCm39) |
D672G |
probably benign |
Het |
Kat6b |
A |
G |
14: 21,720,054 (GRCm39) |
M1469V |
possibly damaging |
Het |
Kif3a |
T |
C |
11: 53,479,578 (GRCm39) |
F430L |
probably benign |
Het |
L3mbtl3 |
T |
C |
10: 26,179,586 (GRCm39) |
D523G |
unknown |
Het |
Mcf2l |
A |
G |
8: 13,059,715 (GRCm39) |
Q736R |
probably damaging |
Het |
Mpl |
T |
G |
4: 118,313,881 (GRCm39) |
D128A |
probably damaging |
Het |
Myom3 |
T |
A |
4: 135,492,897 (GRCm39) |
C149S |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,965,805 (GRCm39) |
I1285V |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,753,149 (GRCm39) |
Q279R |
probably damaging |
Het |
Ndc1 |
T |
G |
4: 107,232,362 (GRCm39) |
S182R |
probably damaging |
Het |
Ngf |
A |
T |
3: 102,427,445 (GRCm39) |
M65L |
possibly damaging |
Het |
Or2n1 |
T |
A |
17: 38,486,345 (GRCm39) |
Y123* |
probably null |
Het |
Pla2g2a |
T |
G |
4: 138,560,595 (GRCm39) |
*69G |
probably null |
Het |
Ppp1r12b |
T |
C |
1: 134,814,166 (GRCm39) |
E379G |
probably damaging |
Het |
Ptdss2 |
T |
C |
7: 140,731,684 (GRCm39) |
F164S |
probably benign |
Het |
Ptprc |
T |
C |
1: 138,102,822 (GRCm39) |
T2A |
possibly damaging |
Het |
Ptprq |
T |
A |
10: 107,370,565 (GRCm39) |
N2042I |
probably damaging |
Het |
Rdh10 |
A |
T |
1: 16,178,221 (GRCm39) |
R164S |
probably damaging |
Het |
Sec31a |
A |
T |
5: 100,541,180 (GRCm39) |
I309N |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,599,409 (GRCm39) |
I710N |
unknown |
Het |
Slc25a30 |
A |
T |
14: 76,008,956 (GRCm39) |
L26Q |
probably damaging |
Het |
Sptan1 |
G |
A |
2: 29,868,455 (GRCm39) |
V34I |
probably damaging |
Het |
Sult1e1 |
A |
T |
5: 87,735,453 (GRCm39) |
I75N |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,951,885 (GRCm39) |
V938A |
probably benign |
Het |
Vps16 |
C |
T |
2: 130,283,199 (GRCm39) |
R531C |
probably damaging |
Het |
Zbtb22 |
C |
T |
17: 34,137,423 (GRCm39) |
H523Y |
probably damaging |
Het |
Zfp39 |
G |
A |
11: 58,780,671 (GRCm39) |
T697M |
possibly 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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTGTATTCTAAGAAACAACTTCCC -3'
(R):5'- AGACTTAGACTGCTGCCTGAG -3'
Sequencing Primer
(F):5'- CAACTTCCCAATAGTTTCAGAATCTC -3'
(R):5'- ACTTAGACTGCTGCCTGAGTTTTTAG -3'
|
Posted On |
2016-06-21 |