Incidental Mutation 'R2232:Pigq'
| ID |
240136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigq
|
| Ensembl Gene |
ENSMUSG00000025728 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class Q |
| Synonyms |
Gpi1p, Gpih, Gpi1h, Gpi1 |
| MMRRC Submission |
040233-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2232 (G1)
|
| Quality Score |
196 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26145398-26161855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26151183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 322
(H322R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026823]
[ENSMUST00000097368]
[ENSMUST00000135253]
[ENSMUST00000208043]
[ENSMUST00000208071]
[ENSMUST00000207073]
[ENSMUST00000208242]
[ENSMUST00000140304]
[ENSMUST00000139226]
[ENSMUST00000145745]
[ENSMUST00000148307]
[ENSMUST00000208499]
|
| AlphaFold |
Q9QYT7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026823
AA Change: H322R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026823
Gene: ENSMUSG00000025728
AA Change: H322R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
Pfam:Gpi1
|
274 |
463 |
5.1e-79 |
PFAM |
|
transmembrane domain
|
478 |
500 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097368
AA Change: H382R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000094981
Gene: ENSMUSG00000025728
AA Change: H382R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
transmembrane domain
|
276 |
298 |
N/A |
INTRINSIC |
|
Pfam:Gpi1
|
365 |
523 |
8.6e-66 |
PFAM |
|
transmembrane domain
|
538 |
560 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123929
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124032
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000133650
AA Change: H225R
|
| SMART Domains |
Protein: ENSMUSP00000117102
Gene: ENSMUSG00000025728
AA Change: H225R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
|
Pfam:Gpi1
|
180 |
367 |
2.4e-71 |
PFAM |
|
transmembrane domain
|
382 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135253
|
| SMART Domains |
Protein: ENSMUSP00000122239
Gene: ENSMUSG00000025728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
78 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139078
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208043
AA Change: H322R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208071
AA Change: H322R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207073
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208242
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140304
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207777
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139226
|
| SMART Domains |
Protein: ENSMUSP00000115447
Gene: ENSMUSG00000025728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145745
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148307
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208499
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
A |
C |
5: 121,657,795 (GRCm39) |
D499E |
possibly damaging |
Het |
| Adamtsl2 |
G |
A |
2: 26,993,190 (GRCm39) |
G740E |
probably damaging |
Het |
| Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Akap9 |
G |
A |
5: 4,096,603 (GRCm39) |
V2493I |
probably damaging |
Het |
| Ankra2 |
T |
C |
13: 98,407,646 (GRCm39) |
F199L |
probably damaging |
Het |
| Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
| Asns |
A |
G |
6: 7,689,316 (GRCm39) |
I62T |
possibly damaging |
Het |
| Celf3 |
T |
A |
3: 94,387,566 (GRCm39) |
|
probably null |
Het |
| Cyp4f37 |
A |
G |
17: 32,853,244 (GRCm39) |
T403A |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,156,414 (GRCm39) |
D112G |
probably benign |
Het |
| Dgkd |
T |
A |
1: 87,857,464 (GRCm39) |
S725R |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,408,563 (GRCm39) |
|
probably null |
Het |
| Entrep2 |
G |
A |
7: 64,408,970 (GRCm39) |
H475Y |
probably damaging |
Het |
| Ergic3 |
A |
G |
2: 155,859,736 (GRCm39) |
T346A |
probably damaging |
Het |
| Fam227a |
T |
A |
15: 79,499,582 (GRCm39) |
Y591F |
possibly damaging |
Het |
| Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
| Ghrhr |
T |
C |
6: 55,362,444 (GRCm39) |
F347S |
probably damaging |
Het |
| Htr2a |
A |
T |
14: 74,882,469 (GRCm39) |
I152F |
probably damaging |
Het |
| Il17re |
T |
C |
6: 113,441,761 (GRCm39) |
C219R |
probably damaging |
Het |
| Kansl2 |
A |
G |
15: 98,422,359 (GRCm39) |
L403S |
probably damaging |
Het |
| Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
| L1cam |
T |
A |
X: 72,904,947 (GRCm39) |
N503I |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,648,919 (GRCm39) |
K1638E |
probably benign |
Het |
| Mcpt9 |
A |
T |
14: 56,265,445 (GRCm39) |
C85S |
probably benign |
Het |
| Mindy3 |
C |
A |
2: 12,408,856 (GRCm39) |
R73M |
probably benign |
Het |
| Mrgprb3 |
T |
C |
7: 48,292,770 (GRCm39) |
I260M |
probably benign |
Het |
| Nes |
T |
A |
3: 87,886,238 (GRCm39) |
I1499N |
possibly damaging |
Het |
| Ninl |
A |
G |
2: 150,791,970 (GRCm39) |
V851A |
probably benign |
Het |
| Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
| Or10j7 |
A |
G |
1: 173,011,182 (GRCm39) |
I273T |
probably benign |
Het |
| Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
| Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
| Pcare |
A |
G |
17: 72,056,279 (GRCm39) |
S1133P |
probably benign |
Het |
| Pdk3 |
G |
T |
X: 92,857,604 (GRCm39) |
N59K |
probably damaging |
Het |
| Ppp3r1 |
G |
A |
11: 17,143,115 (GRCm39) |
G68R |
probably damaging |
Het |
| Proz |
A |
G |
8: 13,113,356 (GRCm39) |
Y59C |
probably damaging |
Het |
| Prpf39 |
C |
T |
12: 65,090,786 (GRCm39) |
R32* |
probably null |
Het |
| Prr5 |
T |
C |
15: 84,586,981 (GRCm39) |
S244P |
probably benign |
Het |
| Pth2r |
G |
T |
1: 65,375,928 (GRCm39) |
W62L |
probably damaging |
Het |
| Scin |
T |
A |
12: 40,118,930 (GRCm39) |
K622I |
probably damaging |
Het |
| Serpinb6a |
T |
C |
13: 34,109,303 (GRCm39) |
K143R |
probably damaging |
Het |
| Ska1 |
G |
T |
18: 74,330,137 (GRCm39) |
|
probably null |
Het |
| Slc30a8 |
G |
T |
15: 52,169,960 (GRCm39) |
R62S |
probably benign |
Het |
| Slc8a3 |
A |
C |
12: 81,361,994 (GRCm39) |
I275S |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
| Spmap2l |
A |
G |
5: 77,207,252 (GRCm39) |
I337V |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,425,606 (GRCm39) |
I76V |
probably damaging |
Het |
| Sult1c2 |
G |
T |
17: 54,138,848 (GRCm39) |
T243K |
probably benign |
Het |
| Svil |
T |
A |
18: 5,046,640 (GRCm39) |
M1K |
probably null |
Het |
| Tet3 |
T |
C |
6: 83,346,453 (GRCm39) |
D1328G |
probably damaging |
Het |
| Tnfsf14 |
T |
C |
17: 57,500,876 (GRCm39) |
D65G |
probably benign |
Het |
| Trmt9b |
T |
A |
8: 36,979,707 (GRCm39) |
C437S |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,260,831 (GRCm39) |
S1439P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
| Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
| Usp20 |
A |
G |
2: 30,908,750 (GRCm39) |
N777S |
probably benign |
Het |
| Zfp92 |
G |
T |
X: 72,466,358 (GRCm39) |
L450F |
possibly damaging |
Het |
|
| Other mutations in Pigq |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01596:Pigq
|
APN |
17 |
26,146,660 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02516:Pigq
|
APN |
17 |
26,156,221 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0669:Pigq
|
UTSW |
17 |
26,155,736 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1830:Pigq
|
UTSW |
17 |
26,153,980 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4904:Pigq
|
UTSW |
17 |
26,150,034 (GRCm39) |
unclassified |
probably benign |
|
|
R5008:Pigq
|
UTSW |
17 |
26,153,177 (GRCm39) |
missense |
probably benign |
|
|
R5394:Pigq
|
UTSW |
17 |
26,150,446 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5764:Pigq
|
UTSW |
17 |
26,151,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6814:Pigq
|
UTSW |
17 |
26,150,630 (GRCm39) |
unclassified |
probably benign |
|
|
R6880:Pigq
|
UTSW |
17 |
26,153,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7198:Pigq
|
UTSW |
17 |
26,153,199 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7456:Pigq
|
UTSW |
17 |
26,153,580 (GRCm39) |
missense |
unknown |
|
|
R7806:Pigq
|
UTSW |
17 |
26,150,700 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7895:Pigq
|
UTSW |
17 |
26,156,299 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8973:Pigq
|
UTSW |
17 |
26,151,141 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9124:Pigq
|
UTSW |
17 |
26,156,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0020:Pigq
|
UTSW |
17 |
26,150,497 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0067:Pigq
|
UTSW |
17 |
26,153,980 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1177:Pigq
|
UTSW |
17 |
26,145,469 (GRCm39) |
missense |
|
|
|
Z1177:Pigq
|
UTSW |
17 |
26,145,462 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTAGGGTTGCCTGCTCTCC -3'
(R):5'- GCCTCTGTGACCGTGTCATC -3'
Sequencing Primer
(F):5'- GGTTGCCTGCTCTCCTCAAC -3'
(R):5'- ATCTGCCTCTGTGACCGTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation