Incidental Mutation 'R1368:Pigg'
| ID |
155871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigg
|
| Ensembl Gene |
ENSMUSG00000029263 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class G |
| Synonyms |
Gpi7 |
| MMRRC Submission |
039433-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R1368 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108460679-108497225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 108465154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 129
(G129V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031189]
[ENSMUST00000118910]
[ENSMUST00000119014]
|
| AlphaFold |
D3Z3Y1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031189
AA Change: G129V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: G129V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
68 |
314 |
6.3e-15 |
PFAM |
|
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
transmembrane domain
|
463 |
482 |
N/A |
INTRINSIC |
|
transmembrane domain
|
497 |
519 |
N/A |
INTRINSIC |
|
transmembrane domain
|
540 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
664 |
N/A |
INTRINSIC |
|
transmembrane domain
|
688 |
705 |
N/A |
INTRINSIC |
|
transmembrane domain
|
712 |
734 |
N/A |
INTRINSIC |
|
transmembrane domain
|
749 |
766 |
N/A |
INTRINSIC |
|
transmembrane domain
|
785 |
802 |
N/A |
INTRINSIC |
|
transmembrane domain
|
876 |
898 |
N/A |
INTRINSIC |
|
transmembrane domain
|
911 |
933 |
N/A |
INTRINSIC |
|
transmembrane domain
|
948 |
967 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118910
|
| SMART Domains |
Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
SCOP:d1eqja2
|
127 |
202 |
8e-8 |
SMART |
|
transmembrane domain
|
303 |
325 |
N/A |
INTRINSIC |
|
transmembrane domain
|
338 |
357 |
N/A |
INTRINSIC |
|
transmembrane domain
|
372 |
394 |
N/A |
INTRINSIC |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
539 |
N/A |
INTRINSIC |
|
transmembrane domain
|
563 |
580 |
N/A |
INTRINSIC |
|
transmembrane domain
|
587 |
609 |
N/A |
INTRINSIC |
|
transmembrane domain
|
624 |
641 |
N/A |
INTRINSIC |
|
transmembrane domain
|
660 |
677 |
N/A |
INTRINSIC |
|
transmembrane domain
|
751 |
773 |
N/A |
INTRINSIC |
|
transmembrane domain
|
786 |
808 |
N/A |
INTRINSIC |
|
transmembrane domain
|
823 |
842 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119014
AA Change: G129V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: G129V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
164 |
286 |
2.2e-9 |
PFAM |
|
transmembrane domain
|
436 |
458 |
N/A |
INTRINSIC |
|
transmembrane domain
|
471 |
490 |
N/A |
INTRINSIC |
|
transmembrane domain
|
505 |
527 |
N/A |
INTRINSIC |
|
transmembrane domain
|
548 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
661 |
672 |
N/A |
INTRINSIC |
|
transmembrane domain
|
696 |
713 |
N/A |
INTRINSIC |
|
transmembrane domain
|
720 |
742 |
N/A |
INTRINSIC |
|
transmembrane domain
|
757 |
774 |
N/A |
INTRINSIC |
|
transmembrane domain
|
793 |
810 |
N/A |
INTRINSIC |
|
transmembrane domain
|
884 |
906 |
N/A |
INTRINSIC |
|
transmembrane domain
|
919 |
941 |
N/A |
INTRINSIC |
|
transmembrane domain
|
956 |
975 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199082
|
| Meta Mutation Damage Score |
0.8589 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,241,836 (GRCm39) |
D1233G |
probably benign |
Het |
| Abcc8 |
G |
A |
7: 45,772,284 (GRCm39) |
R832W |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,092,981 (GRCm39) |
T439A |
probably damaging |
Het |
| Brd10 |
C |
A |
19: 29,693,796 (GRCm39) |
S1966I |
probably damaging |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,953 (GRCm39) |
N74Y |
possibly damaging |
Het |
| Cct8 |
G |
A |
16: 87,288,200 (GRCm39) |
S124L |
probably damaging |
Het |
| Cdh9 |
T |
A |
15: 16,848,568 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
C |
T |
10: 100,330,828 (GRCm39) |
|
probably benign |
Het |
| Chrng |
T |
A |
1: 87,133,575 (GRCm39) |
L10H |
probably damaging |
Het |
| Cnn3 |
T |
C |
3: 121,250,786 (GRCm39) |
L189S |
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,585,157 (GRCm39) |
|
probably benign |
Het |
| Cxcl12 |
A |
G |
6: 117,153,111 (GRCm39) |
|
probably benign |
Het |
| Eif2b2 |
G |
A |
12: 85,270,230 (GRCm39) |
A257T |
probably damaging |
Het |
| Entrep2 |
A |
T |
7: 64,469,625 (GRCm39) |
V41E |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,858,903 (GRCm39) |
Q2341R |
possibly damaging |
Het |
| Fktn |
G |
A |
4: 53,734,880 (GRCm39) |
G173R |
probably damaging |
Het |
| Gabbr2 |
T |
C |
4: 46,674,464 (GRCm39) |
N841S |
probably benign |
Het |
| Gm5622 |
T |
A |
14: 51,899,647 (GRCm39) |
V167E |
possibly damaging |
Het |
| Gnaq |
T |
C |
19: 16,355,651 (GRCm39) |
V289A |
probably benign |
Het |
| Gpatch2l |
T |
G |
12: 86,307,439 (GRCm39) |
D272E |
possibly damaging |
Het |
| Gzmg |
G |
A |
14: 56,395,263 (GRCm39) |
T74I |
probably benign |
Het |
| Ikzf2 |
G |
A |
1: 69,578,474 (GRCm39) |
A271V |
possibly damaging |
Het |
| Lig4 |
T |
C |
8: 10,021,176 (GRCm39) |
D868G |
possibly damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,747,764 (GRCm39) |
E367G |
possibly damaging |
Het |
| Mpz |
T |
C |
1: 170,987,533 (GRCm39) |
L223P |
probably damaging |
Het |
| Muc17 |
T |
C |
5: 137,175,674 (GRCm39) |
|
probably benign |
Het |
| Or2f1b |
C |
A |
6: 42,739,613 (GRCm39) |
T209K |
possibly damaging |
Het |
| Pdcd2 |
G |
T |
17: 15,746,846 (GRCm39) |
N104K |
probably damaging |
Het |
| Ppp3cc |
T |
C |
14: 70,483,311 (GRCm39) |
Y254C |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Psg23 |
A |
G |
7: 18,348,645 (GRCm39) |
V54A |
probably benign |
Het |
| Psmd3 |
A |
G |
11: 98,573,746 (GRCm39) |
D64G |
probably damaging |
Het |
| Psmg2 |
CTTCAGTT |
CTTCAGTTCAGTT |
18: 67,779,095 (GRCm39) |
|
probably null |
Het |
| Ptgdr |
T |
A |
14: 45,090,799 (GRCm39) |
I320F |
probably damaging |
Het |
| Rad50 |
T |
A |
11: 53,574,072 (GRCm39) |
K722* |
probably null |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rgs9 |
G |
A |
11: 109,138,977 (GRCm39) |
S255L |
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,298,334 (GRCm39) |
P569L |
possibly damaging |
Het |
| Rsad2 |
T |
C |
12: 26,497,147 (GRCm39) |
|
probably null |
Het |
| Scn8a |
A |
G |
15: 100,933,422 (GRCm39) |
D1501G |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,883,330 (GRCm39) |
T313A |
possibly damaging |
Het |
| Serpinc1 |
T |
A |
1: 160,821,094 (GRCm39) |
F59L |
probably damaging |
Het |
| Sike1 |
A |
G |
3: 102,903,500 (GRCm39) |
D63G |
possibly damaging |
Het |
| Slc25a11 |
T |
A |
11: 70,536,352 (GRCm39) |
|
probably null |
Het |
| Slc32a1 |
A |
G |
2: 158,453,240 (GRCm39) |
M27V |
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,187,807 (GRCm39) |
V1003A |
probably damaging |
Het |
| Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,577,315 (GRCm39) |
E75G |
possibly damaging |
Het |
| Tspan3 |
A |
T |
9: 56,054,783 (GRCm39) |
V48E |
probably benign |
Het |
| Ugt1a6b |
T |
C |
1: 88,035,358 (GRCm39) |
I232T |
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,122,772 (GRCm39) |
K2290E |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,656 (GRCm39) |
F70L |
probably benign |
Het |
|
| Other mutations in Pigg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00987:Pigg
|
APN |
5 |
108,489,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01308:Pigg
|
APN |
5 |
108,484,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01485:Pigg
|
APN |
5 |
108,484,067 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02043:Pigg
|
APN |
5 |
108,492,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02104:Pigg
|
APN |
5 |
108,489,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02238:Pigg
|
APN |
5 |
108,466,794 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02311:Pigg
|
APN |
5 |
108,484,246 (GRCm39) |
missense |
probably benign |
|
|
IGL02608:Pigg
|
APN |
5 |
108,460,869 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03338:Pigg
|
APN |
5 |
108,467,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0033:Pigg
|
UTSW |
5 |
108,489,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0082:Pigg
|
UTSW |
5 |
108,460,751 (GRCm39) |
start gained |
probably benign |
|
|
R0449:Pigg
|
UTSW |
5 |
108,484,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0616:Pigg
|
UTSW |
5 |
108,461,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1246:Pigg
|
UTSW |
5 |
108,489,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1777:Pigg
|
UTSW |
5 |
108,465,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Pigg
|
UTSW |
5 |
108,484,408 (GRCm39) |
missense |
probably benign |
|
|
R2022:Pigg
|
UTSW |
5 |
108,460,788 (GRCm39) |
start gained |
probably benign |
|
|
R2037:Pigg
|
UTSW |
5 |
108,486,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2157:Pigg
|
UTSW |
5 |
108,466,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2181:Pigg
|
UTSW |
5 |
108,484,366 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2291:Pigg
|
UTSW |
5 |
108,480,783 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3157:Pigg
|
UTSW |
5 |
108,462,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4117:Pigg
|
UTSW |
5 |
108,495,908 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4572:Pigg
|
UTSW |
5 |
108,480,751 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4589:Pigg
|
UTSW |
5 |
108,480,556 (GRCm39) |
missense |
probably benign |
|
|
R5019:Pigg
|
UTSW |
5 |
108,480,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5094:Pigg
|
UTSW |
5 |
108,484,123 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5329:Pigg
|
UTSW |
5 |
108,462,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5960:Pigg
|
UTSW |
5 |
108,484,160 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5976:Pigg
|
UTSW |
5 |
108,480,057 (GRCm39) |
missense |
probably null |
1.00 |
|
R6089:Pigg
|
UTSW |
5 |
108,489,788 (GRCm39) |
missense |
probably benign |
|
|
R6797:Pigg
|
UTSW |
5 |
108,480,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6960:Pigg
|
UTSW |
5 |
108,474,707 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7090:Pigg
|
UTSW |
5 |
108,484,378 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7659:Pigg
|
UTSW |
5 |
108,486,485 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7660:Pigg
|
UTSW |
5 |
108,486,485 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7661:Pigg
|
UTSW |
5 |
108,486,485 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7732:Pigg
|
UTSW |
5 |
108,466,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7749:Pigg
|
UTSW |
5 |
108,484,162 (GRCm39) |
missense |
probably benign |
|
|
R7765:Pigg
|
UTSW |
5 |
108,461,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8021:Pigg
|
UTSW |
5 |
108,467,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8268:Pigg
|
UTSW |
5 |
108,486,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8320:Pigg
|
UTSW |
5 |
108,495,717 (GRCm39) |
missense |
probably benign |
|
|
R8545:Pigg
|
UTSW |
5 |
108,489,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8943:Pigg
|
UTSW |
5 |
108,484,066 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9502:Pigg
|
UTSW |
5 |
108,495,782 (GRCm39) |
missense |
|
|
|
R9720:Pigg
|
UTSW |
5 |
108,467,800 (GRCm39) |
nonsense |
probably null |
|
|
R9722:Pigg
|
UTSW |
5 |
108,495,767 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCAAAGTCCGTGTCCTATCTTGC -3'
(R):5'- CAGCATCACCTCTAAATGGTAGCATCC -3'
Sequencing Primer
(F):5'- CGTGTCCTATCTTGCTCTCC -3'
(R):5'- gggagggggagggaaag -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation