Incidental Mutation 'R8136:Pigb'
ID |
632261 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pigb
|
Ensembl Gene |
ENSMUSG00000079469 |
Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class B |
Synonyms |
|
MMRRC Submission |
067564-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.718)
|
Stock # |
R8136 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
72920639-72946973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72929602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 327
(L327P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096165
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098566]
[ENSMUST00000183746]
[ENSMUST00000184035]
[ENSMUST00000184389]
|
AlphaFold |
Q9JJQ0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098566
AA Change: L327P
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000096165 Gene: ENSMUSG00000079469 AA Change: L327P
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
4.7e-122 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183746
AA Change: L327P
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000138885 Gene: ENSMUSG00000079469 AA Change: L327P
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183904
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184035
AA Change: L327P
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000139269 Gene: ENSMUSG00000079469 AA Change: L327P
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184389
AA Change: L327P
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000139076 Gene: ENSMUSG00000079469 AA Change: L327P
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.7%
|
Validation Efficiency |
98% (40/41) |
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 |
Abca12 |
T |
A |
1: 71,287,556 (GRCm39) |
M2462L |
probably benign |
Het |
Aptx |
A |
G |
4: 40,688,107 (GRCm39) |
|
probably null |
Het |
Bmpr1b |
A |
G |
3: 141,562,143 (GRCm39) |
I348T |
probably damaging |
Het |
Btnl1 |
T |
A |
17: 34,599,014 (GRCm39) |
|
probably null |
Het |
Col27a1 |
T |
A |
4: 63,202,190 (GRCm39) |
D960E |
probably benign |
Het |
Crygn |
G |
T |
5: 24,956,090 (GRCm39) |
R172S |
probably benign |
Het |
Cyp26a1 |
T |
C |
19: 37,689,654 (GRCm39) |
I450T |
probably benign |
Het |
Emc2 |
A |
G |
15: 43,375,202 (GRCm39) |
Y233C |
probably benign |
Het |
Esyt2 |
C |
A |
12: 116,327,079 (GRCm39) |
T549K |
probably benign |
Het |
Garin5a |
T |
C |
7: 44,149,704 (GRCm39) |
F142L |
probably damaging |
Het |
Gatm |
T |
C |
2: 122,426,018 (GRCm39) |
D411G |
probably damaging |
Het |
Gpr65 |
T |
C |
12: 98,241,415 (GRCm39) |
Y23H |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,415,321 (GRCm39) |
R1752G |
probably benign |
Het |
Krtap4-1 |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
11: 99,518,660 (GRCm39) |
|
probably benign |
Het |
Map3k19 |
A |
C |
1: 127,751,492 (GRCm39) |
S620A |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,487,439 (GRCm39) |
*543Q |
probably null |
Het |
Mfsd2a |
A |
T |
4: 122,845,660 (GRCm39) |
C164S |
probably benign |
Het |
Mta1 |
C |
A |
12: 113,095,298 (GRCm39) |
R484S |
probably damaging |
Het |
Nlrp9a |
T |
G |
7: 26,256,678 (GRCm39) |
F99V |
probably benign |
Het |
Notch2 |
G |
A |
3: 98,031,537 (GRCm39) |
C1137Y |
probably damaging |
Het |
Or51a6 |
A |
T |
7: 102,604,448 (GRCm39) |
M120K |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 81,964,780 (GRCm39) |
T316A |
probably benign |
Het |
Peds1 |
A |
C |
2: 167,486,879 (GRCm39) |
Y167D |
probably benign |
Het |
Phf11a |
A |
G |
14: 59,515,018 (GRCm39) |
V221A |
probably benign |
Het |
Rab3c |
A |
T |
13: 110,317,554 (GRCm39) |
Y110* |
probably null |
Het |
Sdk2 |
G |
A |
11: 113,742,539 (GRCm39) |
T790M |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,261,222 (GRCm39) |
K131R |
probably benign |
Het |
Slc22a2 |
C |
T |
17: 12,824,917 (GRCm39) |
P260S |
probably damaging |
Het |
Sppl2a |
T |
C |
2: 126,755,201 (GRCm39) |
|
probably null |
Het |
Tnn |
T |
A |
1: 159,934,630 (GRCm39) |
Q1261L |
probably damaging |
Het |
Treml4 |
C |
A |
17: 48,571,745 (GRCm39) |
Y49* |
probably null |
Het |
Ubr3 |
T |
C |
2: 69,851,523 (GRCm39) |
I1827T |
probably damaging |
Het |
Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
Wls |
C |
A |
3: 159,578,761 (GRCm39) |
Q108K |
probably damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp39 |
A |
T |
11: 58,782,228 (GRCm39) |
V178D |
probably damaging |
Het |
Zfp777 |
C |
A |
6: 48,021,559 (GRCm39) |
R21L |
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 |
|
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'- CCCCTGAGTAGCACATTTGTTCAC -3'
(R):5'- GACTTAGACTGCTGCCTGAG -3'
Sequencing Primer
(F):5'- GAGTAGCACATTTGTTCACCTGAC -3'
(R):5'- CTTTCACTTGTGCCAGTGGACG -3'
|
Posted On |
2020-06-30 |