Incidental Mutation 'R6451:Pigo'
| ID |
516335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigo
|
| Ensembl Gene |
ENSMUSG00000028454 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class O |
| Synonyms |
|
| MMRRC Submission |
044587-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6451 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43017635-43025819 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43021412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 510
(S510L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067481]
[ENSMUST00000098109]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067481
AA Change: S502L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000069749
Gene: ENSMUSG00000028454
AA Change: S502L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
173 |
300 |
7.3e-17 |
PFAM |
|
low complexity region
|
308 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
360 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
428 |
N/A |
INTRINSIC |
|
transmembrane domain
|
448 |
470 |
N/A |
INTRINSIC |
|
transmembrane domain
|
477 |
499 |
N/A |
INTRINSIC |
|
transmembrane domain
|
509 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
559 |
N/A |
INTRINSIC |
|
transmembrane domain
|
669 |
688 |
N/A |
INTRINSIC |
|
transmembrane domain
|
703 |
722 |
N/A |
INTRINSIC |
|
transmembrane domain
|
743 |
765 |
N/A |
INTRINSIC |
|
transmembrane domain
|
829 |
851 |
N/A |
INTRINSIC |
|
transmembrane domain
|
858 |
880 |
N/A |
INTRINSIC |
|
transmembrane domain
|
921 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
955 |
979 |
N/A |
INTRINSIC |
|
transmembrane domain
|
992 |
1014 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1029 |
1051 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098109
AA Change: S510L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095713
Gene: ENSMUSG00000028454
AA Change: S510L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
129 |
304 |
6.5e-18 |
PFAM |
|
low complexity region
|
316 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
|
transmembrane domain
|
456 |
478 |
N/A |
INTRINSIC |
|
transmembrane domain
|
485 |
507 |
N/A |
INTRINSIC |
|
transmembrane domain
|
517 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
567 |
N/A |
INTRINSIC |
|
transmembrane domain
|
677 |
696 |
N/A |
INTRINSIC |
|
transmembrane domain
|
711 |
730 |
N/A |
INTRINSIC |
|
transmembrane domain
|
751 |
773 |
N/A |
INTRINSIC |
|
transmembrane domain
|
837 |
859 |
N/A |
INTRINSIC |
|
transmembrane domain
|
866 |
888 |
N/A |
INTRINSIC |
|
transmembrane domain
|
953 |
972 |
N/A |
INTRINSIC |
|
low complexity region
|
987 |
1011 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1024 |
1046 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1061 |
1083 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149333
|
| SMART Domains |
Protein: ENSMUSP00000114917
Gene: ENSMUSG00000028454
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
123 |
299 |
2.7e-18 |
PFAM |
|
low complexity region
|
311 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
460 |
N/A |
INTRINSIC |
|
transmembrane domain
|
531 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
589 |
N/A |
INTRINSIC |
|
transmembrane domain
|
602 |
624 |
N/A |
INTRINSIC |
|
transmembrane domain
|
639 |
661 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155429
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
98% (39/40) |
| 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 which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,842,733 (GRCm39) |
V1164E |
probably damaging |
Het |
| Acnat2 |
A |
G |
4: 49,380,262 (GRCm39) |
V372A |
probably benign |
Het |
| Adam17 |
A |
T |
12: 21,392,883 (GRCm39) |
D313E |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,735,709 (GRCm39) |
R200* |
probably null |
Het |
| Akr1d1 |
G |
A |
6: 37,527,150 (GRCm39) |
E129K |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,787,230 (GRCm39) |
V382E |
probably damaging |
Het |
| Arhgef40 |
G |
A |
14: 52,238,456 (GRCm39) |
V1312I |
probably damaging |
Het |
| Bbs9 |
A |
G |
9: 22,479,060 (GRCm39) |
S168G |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,276,541 (GRCm39) |
K202* |
probably null |
Het |
| Cnep1r1 |
A |
G |
8: 88,846,438 (GRCm39) |
E19G |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,022,765 (GRCm39) |
Q1124L |
probably benign |
Het |
| Dph1 |
G |
T |
11: 75,072,143 (GRCm39) |
A242D |
probably damaging |
Het |
| Efcab7 |
T |
A |
4: 99,719,738 (GRCm39) |
Y73* |
probably null |
Het |
| Esp18 |
G |
T |
17: 39,720,853 (GRCm39) |
E33* |
probably null |
Het |
| Fbln2 |
T |
A |
6: 91,211,241 (GRCm39) |
I395K |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,844,969 (GRCm39) |
C38Y |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,956,105 (GRCm39) |
S1474T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,868,670 (GRCm39) |
V45M |
probably damaging |
Het |
| Intu |
T |
A |
3: 40,655,723 (GRCm39) |
F937I |
possibly damaging |
Het |
| Llgl2 |
G |
A |
11: 115,735,767 (GRCm39) |
G121D |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Nsmce4a |
G |
T |
7: 130,144,479 (GRCm39) |
|
|
Het |
| Or5w20 |
T |
C |
2: 87,726,935 (GRCm39) |
Y131H |
probably damaging |
Het |
| Or6c69c |
A |
T |
10: 129,911,007 (GRCm39) |
M243L |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,286,469 (GRCm39) |
V590E |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Rnf19a |
A |
G |
15: 36,253,205 (GRCm39) |
I378T |
possibly damaging |
Het |
| Rnf216 |
G |
T |
5: 142,978,589 (GRCm39) |
P793T |
possibly damaging |
Het |
| Samd8 |
T |
C |
14: 21,833,866 (GRCm39) |
|
probably null |
Het |
| Son |
T |
A |
16: 91,454,490 (GRCm39) |
M1079K |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,624,596 (GRCm39) |
M166K |
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,044,767 (GRCm39) |
E1468K |
probably damaging |
Het |
| Taar3 |
A |
T |
10: 23,825,705 (GRCm39) |
I84F |
possibly damaging |
Het |
| Tas2r107 |
T |
A |
6: 131,636,977 (GRCm39) |
D24V |
possibly damaging |
Het |
| Tmc2 |
A |
G |
2: 130,106,123 (GRCm39) |
R885G |
probably damaging |
Het |
| Tox3 |
C |
A |
8: 90,984,687 (GRCm39) |
R164L |
probably benign |
Het |
| Ttc5 |
A |
G |
14: 51,004,664 (GRCm39) |
I380T |
probably damaging |
Het |
| Vmn1r179 |
A |
G |
7: 23,628,076 (GRCm39) |
N89S |
possibly damaging |
Het |
| Zfp944 |
T |
C |
17: 22,557,846 (GRCm39) |
E467G |
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,813,982 (GRCm39) |
D2857V |
possibly damaging |
Het |
|
| Other mutations in Pigo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00838:Pigo
|
APN |
4 |
43,021,767 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02176:Pigo
|
APN |
4 |
43,019,352 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03197:Pigo
|
APN |
4 |
43,022,103 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0207:Pigo
|
UTSW |
4 |
43,023,824 (GRCm39) |
splice site |
probably benign |
|
|
R0464:Pigo
|
UTSW |
4 |
43,019,814 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0891:Pigo
|
UTSW |
4 |
43,020,519 (GRCm39) |
nonsense |
probably null |
|
|
R1445:Pigo
|
UTSW |
4 |
43,021,460 (GRCm39) |
missense |
probably benign |
|
|
R1484:Pigo
|
UTSW |
4 |
43,024,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1547:Pigo
|
UTSW |
4 |
43,020,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1624:Pigo
|
UTSW |
4 |
43,024,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1847:Pigo
|
UTSW |
4 |
43,024,710 (GRCm39) |
nonsense |
probably null |
|
|
R3110:Pigo
|
UTSW |
4 |
43,021,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3111:Pigo
|
UTSW |
4 |
43,021,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3112:Pigo
|
UTSW |
4 |
43,021,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3824:Pigo
|
UTSW |
4 |
43,020,909 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3850:Pigo
|
UTSW |
4 |
43,025,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3980:Pigo
|
UTSW |
4 |
43,019,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3982:Pigo
|
UTSW |
4 |
43,023,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4520:Pigo
|
UTSW |
4 |
43,020,301 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5033:Pigo
|
UTSW |
4 |
43,019,412 (GRCm39) |
missense |
probably null |
1.00 |
|
R5054:Pigo
|
UTSW |
4 |
43,021,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Pigo
|
UTSW |
4 |
43,020,675 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5390:Pigo
|
UTSW |
4 |
43,019,645 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5468:Pigo
|
UTSW |
4 |
43,024,562 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5775:Pigo
|
UTSW |
4 |
43,023,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Pigo
|
UTSW |
4 |
43,022,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5924:Pigo
|
UTSW |
4 |
43,023,389 (GRCm39) |
nonsense |
probably null |
|
|
R6111:Pigo
|
UTSW |
4 |
43,019,724 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6533:Pigo
|
UTSW |
4 |
43,022,697 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6884:Pigo
|
UTSW |
4 |
43,022,627 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7026:Pigo
|
UTSW |
4 |
43,023,380 (GRCm39) |
nonsense |
probably null |
|
|
R7591:Pigo
|
UTSW |
4 |
43,025,093 (GRCm39) |
missense |
probably benign |
|
|
R7876:Pigo
|
UTSW |
4 |
43,020,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8754:Pigo
|
UTSW |
4 |
43,024,724 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8794:Pigo
|
UTSW |
4 |
43,023,787 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9646:Pigo
|
UTSW |
4 |
43,017,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9782:Pigo
|
UTSW |
4 |
43,023,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Pigo
|
UTSW |
4 |
43,019,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATCCGAGAAGAAGGTGGC -3'
(R):5'- ACATTGACTGCTGAGTTCCAG -3'
Sequencing Primer
(F):5'- CCAAGCGAATGAGCAGTAATATTAG -3'
(R):5'- CCCTGTGCATCGAGTCTTGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation