Incidental Mutation 'R6816:Pigt'
| ID |
537319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigt
|
| Ensembl Gene |
ENSMUSG00000017721 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class T |
| Synonyms |
Ndap7, CGI-06, 4930534E15Rik, NDAP, 2510012P17Rik |
| MMRRC Submission |
044928-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.753)
|
| Stock # |
R6816 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164339461-164350221 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 164343052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 249
(V249F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103101]
[ENSMUST00000117066]
|
| AlphaFold |
Q8BXQ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103101
AA Change: V249F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099390
Gene: ENSMUSG00000017721
AA Change: V249F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gpi16
|
22 |
576 |
4.9e-155 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117066
AA Change: V249F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112577
Gene: ENSMUSG00000017721
AA Change: V249F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gpi16
|
11 |
419 |
4.9e-90 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152522
|
| SMART Domains |
Protein: ENSMUSP00000115362
Gene: ENSMUSG00000017721
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gpi16
|
21 |
134 |
2.7e-28 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
96% (49/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved 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 protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a null mutation do not survive. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg5 |
A |
G |
8: 95,668,311 (GRCm39) |
T458A |
probably damaging |
Het |
| Ajm1 |
C |
CTCTA |
2: 25,469,733 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
T |
G |
11: 5,593,765 (GRCm39) |
F457V |
possibly damaging |
Het |
| Cep152 |
T |
C |
2: 125,436,947 (GRCm39) |
E531G |
probably damaging |
Het |
| Dpf1 |
A |
C |
7: 29,011,087 (GRCm39) |
D162A |
possibly damaging |
Het |
| E2f8 |
A |
T |
7: 48,525,331 (GRCm39) |
Y214N |
possibly damaging |
Het |
| Fer1l5 |
A |
T |
1: 36,445,591 (GRCm39) |
Y786F |
possibly damaging |
Het |
| Fhod1 |
G |
T |
8: 106,057,176 (GRCm39) |
Q933K |
probably benign |
Het |
| Gdap2 |
T |
C |
3: 100,099,021 (GRCm39) |
|
probably null |
Het |
| Grin2d |
A |
G |
7: 45,483,106 (GRCm39) |
|
probably benign |
Het |
| H2bc22 |
C |
T |
13: 21,971,947 (GRCm39) |
S88L |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,362,397 (GRCm39) |
V112D |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,932,969 (GRCm39) |
V851E |
probably damaging |
Het |
| Igfn1 |
T |
A |
1: 135,887,466 (GRCm39) |
T2533S |
probably benign |
Het |
| Iqch |
C |
T |
9: 63,388,041 (GRCm39) |
V750I |
probably benign |
Het |
| Itih2 |
A |
G |
2: 10,110,517 (GRCm39) |
Y525H |
probably damaging |
Het |
| Kcnu1 |
C |
T |
8: 26,427,762 (GRCm39) |
Q360* |
probably null |
Het |
| Klk1b26 |
A |
G |
7: 43,666,292 (GRCm39) |
N245S |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,610,530 (GRCm39) |
|
probably null |
Het |
| Lhpp |
T |
C |
7: 132,235,762 (GRCm39) |
S116P |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,501,274 (GRCm39) |
D113G |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,997,227 (GRCm39) |
|
probably null |
Het |
| Map3k9 |
A |
G |
12: 81,769,028 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Mkrn2 |
C |
T |
6: 115,588,689 (GRCm39) |
P144L |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,777,609 (GRCm39) |
S171P |
probably damaging |
Het |
| Nrarp |
T |
C |
2: 25,071,319 (GRCm39) |
L66P |
probably damaging |
Het |
| P2ry1 |
T |
A |
3: 60,911,253 (GRCm39) |
F131I |
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,761,886 (GRCm39) |
Q166R |
probably benign |
Het |
| Ppp1r16b |
G |
T |
2: 158,603,595 (GRCm39) |
V407L |
probably benign |
Het |
| Pramel58 |
A |
T |
5: 94,831,773 (GRCm39) |
Q260L |
possibly damaging |
Het |
| Rab6a |
G |
T |
7: 100,279,080 (GRCm39) |
E73D |
probably damaging |
Het |
| Ralb |
C |
A |
1: 119,405,712 (GRCm39) |
G33* |
probably null |
Het |
| Sema3b |
T |
A |
9: 107,477,549 (GRCm39) |
M491L |
probably benign |
Het |
| Sema3c |
A |
C |
5: 17,875,463 (GRCm39) |
D40A |
probably benign |
Het |
| Slc22a1 |
T |
C |
17: 12,871,370 (GRCm39) |
N464D |
possibly damaging |
Het |
| Spire2 |
T |
A |
8: 124,086,152 (GRCm39) |
S295T |
probably benign |
Het |
| Stat3 |
T |
G |
11: 100,802,093 (GRCm39) |
Q32P |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,924,674 (GRCm39) |
T471A |
probably benign |
Het |
| Sult2b1 |
A |
G |
7: 45,383,102 (GRCm39) |
W227R |
probably damaging |
Het |
| Syt2 |
T |
A |
1: 134,673,538 (GRCm39) |
I294N |
probably damaging |
Het |
| Taar8b |
A |
T |
10: 23,968,079 (GRCm39) |
F38L |
probably benign |
Het |
| Tbl2 |
T |
A |
5: 135,188,069 (GRCm39) |
|
probably null |
Het |
| Tex48 |
G |
A |
4: 63,530,192 (GRCm39) |
S9L |
probably damaging |
Het |
| Tmprss2 |
A |
T |
16: 97,369,667 (GRCm39) |
M369K |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,771,435 (GRCm39) |
S280T |
probably damaging |
Het |
| Tspoap1 |
T |
C |
11: 87,656,491 (GRCm39) |
V263A |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,610,621 (GRCm39) |
R24* |
probably null |
Het |
| Wdr35 |
G |
A |
12: 9,077,724 (GRCm39) |
|
probably null |
Het |
| Zfp202 |
A |
G |
9: 40,123,109 (GRCm39) |
R624G |
probably damaging |
Het |
|
| Other mutations in Pigt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03076:Pigt
|
APN |
2 |
164,339,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB003:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R1548:Pigt
|
UTSW |
2 |
164,343,439 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1551:Pigt
|
UTSW |
2 |
164,349,323 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1605:Pigt
|
UTSW |
2 |
164,349,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3712:Pigt
|
UTSW |
2 |
164,343,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3848:Pigt
|
UTSW |
2 |
164,340,500 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4672:Pigt
|
UTSW |
2 |
164,339,498 (GRCm39) |
unclassified |
probably benign |
|
|
R4719:Pigt
|
UTSW |
2 |
164,343,544 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5481:Pigt
|
UTSW |
2 |
164,348,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Pigt
|
UTSW |
2 |
164,343,482 (GRCm39) |
nonsense |
probably null |
|
|
R5570:Pigt
|
UTSW |
2 |
164,343,482 (GRCm39) |
nonsense |
probably null |
|
|
R5998:Pigt
|
UTSW |
2 |
164,349,374 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6112:Pigt
|
UTSW |
2 |
164,348,365 (GRCm39) |
nonsense |
probably null |
|
|
R6889:Pigt
|
UTSW |
2 |
164,349,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R7037:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R7197:Pigt
|
UTSW |
2 |
164,344,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7288:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R7449:Pigt
|
UTSW |
2 |
164,344,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7822:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R7926:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R8005:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R8019:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R8330:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R8675:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R8893:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R8968:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R9155:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R9334:Pigt
|
UTSW |
2 |
164,349,420 (GRCm39) |
makesense |
probably null |
|
|
R9386:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R9418:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R9426:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R9558:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R9637:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
R9676:Pigt
|
UTSW |
2 |
164,341,589 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTAATTGAGCGGCTGTC -3'
(R):5'- TCTGAGACGCCAATGGACAG -3'
Sequencing Primer
(F):5'- GCTGTCTGGGGAGCATTCAATAAATC -3'
(R):5'- CTCTGTGAGAGTCCGGGAGAAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation