Incidental Mutation 'R3795:Pigv'
| ID |
272719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigv
|
| Ensembl Gene |
ENSMUSG00000043257 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class V |
| Synonyms |
D430024F16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
R3795 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133387698-133399958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133392502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 223
(S223P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062118]
[ENSMUST00000067902]
|
| AlphaFold |
Q7TPN3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062118
AA Change: S223P
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000050647
Gene: ENSMUSG00000043257
AA Change: S223P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mannosyl_trans2
|
8 |
493 |
6.4e-180 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067902
|
| SMART Domains |
Protein: ENSMUSP00000065601
Gene: ENSMUSG00000043257
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mannosyl_trans2
|
10 |
119 |
2.7e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151837
|
| Meta Mutation Damage Score |
0.2148 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy, are runted, have thymus hypoplasia and show craniofacial and kidney defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,212 (GRCm39) |
T10A |
probably benign |
Het |
| Adh1 |
T |
A |
3: 137,985,526 (GRCm39) |
L18H |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,084,714 (GRCm39) |
T426A |
probably benign |
Het |
| Capn13 |
C |
A |
17: 73,644,387 (GRCm39) |
V381L |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,778,735 (GRCm39) |
|
probably benign |
Het |
| Cmas |
T |
A |
6: 142,713,594 (GRCm39) |
D206E |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,077,590 (GRCm39) |
E1084G |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,669,093 (GRCm39) |
V346A |
probably benign |
Het |
| Dhrs3 |
A |
G |
4: 144,645,962 (GRCm39) |
D116G |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,624,501 (GRCm39) |
E844G |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Lhx2 |
T |
C |
2: 38,243,359 (GRCm39) |
C12R |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,359,701 (GRCm39) |
M518T |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,293,793 (GRCm39) |
|
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,020,228 (GRCm39) |
D238E |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,922,667 (GRCm39) |
Y6543H |
probably damaging |
Het |
| Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
| Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
| Psg20 |
A |
G |
7: 18,418,374 (GRCm39) |
V131A |
probably benign |
Het |
| Ptpro |
T |
C |
6: 137,357,307 (GRCm39) |
F266S |
probably benign |
Het |
| S100a7l2 |
T |
C |
3: 90,995,730 (GRCm39) |
I57M |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,747,522 (GRCm39) |
R663* |
probably null |
Het |
| Szt2 |
G |
T |
4: 118,248,927 (GRCm39) |
L586I |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,163,197 (GRCm39) |
I1113V |
probably damaging |
Het |
| Ube2ql1 |
G |
T |
13: 69,852,231 (GRCm39) |
A282E |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,851 (GRCm39) |
M617L |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,085,466 (GRCm39) |
V676A |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,532,053 (GRCm39) |
|
probably null |
Het |
| Zbp1 |
T |
C |
2: 173,053,972 (GRCm39) |
H183R |
probably benign |
Het |
| Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably damaging |
Het |
| Zfp988 |
G |
A |
4: 147,416,040 (GRCm39) |
R158Q |
possibly damaging |
Het |
|
| Other mutations in Pigv |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01878:Pigv
|
APN |
4 |
133,392,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03157:Pigv
|
APN |
4 |
133,392,841 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0256:Pigv
|
UTSW |
4 |
133,393,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0925:Pigv
|
UTSW |
4 |
133,389,960 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1733:Pigv
|
UTSW |
4 |
133,392,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Pigv
|
UTSW |
4 |
133,390,034 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3794:Pigv
|
UTSW |
4 |
133,392,502 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4349:Pigv
|
UTSW |
4 |
133,392,127 (GRCm39) |
missense |
probably benign |
|
|
R5729:Pigv
|
UTSW |
4 |
133,392,134 (GRCm39) |
nonsense |
probably null |
|
|
R6014:Pigv
|
UTSW |
4 |
133,392,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6343:Pigv
|
UTSW |
4 |
133,392,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Pigv
|
UTSW |
4 |
133,392,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7638:Pigv
|
UTSW |
4 |
133,392,762 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8720:Pigv
|
UTSW |
4 |
133,392,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9112:Pigv
|
UTSW |
4 |
133,392,079 (GRCm39) |
missense |
probably benign |
|
|
R9203:Pigv
|
UTSW |
4 |
133,392,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Pigv
|
UTSW |
4 |
133,397,110 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9282:Pigv
|
UTSW |
4 |
133,391,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTTCTCCTGCAAGCCGGTAG -3'
(R):5'- TCTGCATCAGTCCTGCCAAC -3'
Sequencing Primer
(F):5'- AAGCCGGTAGCCTTTGTC -3'
(R):5'- GCCAACGTTTTCCTGGCAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation