Incidental Mutation 'R2914:Pigb'
ID |
266192 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pigb
|
Ensembl Gene |
ENSMUSG00000079469 |
Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class B |
Synonyms |
|
MMRRC Submission |
040501-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.718)
|
Stock # |
R2914 (G1)
|
Quality Score |
99 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
72920639-72946973 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 72947060 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139076
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098566]
[ENSMUST00000183746]
[ENSMUST00000184035]
[ENSMUST00000184389]
|
AlphaFold |
Q9JJQ0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000098566
|
SMART Domains |
Protein: ENSMUSP00000096165 Gene: ENSMUSG00000079469
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
4.7e-122 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183746
|
SMART Domains |
Protein: ENSMUSP00000138885 Gene: ENSMUSG00000079469
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 null
Transcript: ENSMUST00000184035
|
SMART Domains |
Protein: ENSMUSP00000139269 Gene: ENSMUSG00000079469
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184126
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184319
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184389
|
SMART Domains |
Protein: ENSMUSP00000139076 Gene: ENSMUSG00000079469
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (41/41) |
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 |
Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
Dclre1b |
T |
C |
3: 103,715,430 (GRCm39) |
M105V |
probably damaging |
Het |
Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
Fa2h |
T |
C |
8: 112,120,281 (GRCm39) |
D35G |
probably damaging |
Het |
Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
Lrrtm1 |
A |
T |
6: 77,221,962 (GRCm39) |
Q473L |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
Mael |
A |
T |
1: 166,054,179 (GRCm39) |
F188I |
probably damaging |
Het |
Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
Mutyh |
G |
A |
4: 116,672,826 (GRCm39) |
D60N |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
Otud7b |
C |
A |
3: 96,063,272 (GRCm39) |
A837E |
probably benign |
Het |
Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
Rab22a |
A |
G |
2: 173,537,074 (GRCm39) |
N98S |
probably benign |
Het |
Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
Slx4ip |
A |
G |
2: 136,909,511 (GRCm39) |
|
probably null |
Het |
Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
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 |
|
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 |
|
|
Predicted Primers |
|
Posted On |
2015-02-05 |