Incidental Mutation 'R8320:Pigg'
| ID |
641895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigg
|
| Ensembl Gene |
ENSMUSG00000029263 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class G |
| Synonyms |
Gpi7 |
| MMRRC Submission |
067722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R8320 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108460679-108497225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108495717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 918
(R918H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031189]
[ENSMUST00000118910]
[ENSMUST00000119014]
|
| AlphaFold |
D3Z3Y1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031189
AA Change: R910H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: R910H
| 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 |
possibly damaging
Transcript: ENSMUST00000118910
AA Change: R785H
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: R785H
| 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 benign
Transcript: ENSMUST00000119014
AA Change: R918H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: R918H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb10 |
A |
G |
5: 24,742,626 (GRCm39) |
|
probably null |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Clec3a |
T |
C |
8: 115,152,369 (GRCm39) |
V125A |
probably benign |
Het |
| Clspn |
A |
G |
4: 126,457,743 (GRCm39) |
D258G |
possibly damaging |
Het |
| Cnn3 |
T |
G |
3: 121,243,635 (GRCm39) |
L32R |
probably damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,374,466 (GRCm39) |
F993L |
possibly damaging |
Het |
| Cobl |
A |
G |
11: 12,217,001 (GRCm39) |
S496P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,291,043 (GRCm39) |
V2469A |
probably benign |
Het |
| Egfr |
T |
C |
11: 16,841,251 (GRCm39) |
F714S |
probably damaging |
Het |
| Erap1 |
G |
C |
13: 74,814,668 (GRCm39) |
E465Q |
probably benign |
Het |
| Ercc6 |
T |
C |
14: 32,242,972 (GRCm39) |
V204A |
probably benign |
Het |
| Fbln2 |
C |
T |
6: 91,234,749 (GRCm39) |
T689I |
possibly damaging |
Het |
| Fbxw13 |
G |
T |
9: 109,012,134 (GRCm39) |
T311K |
probably benign |
Het |
| Foxj2 |
T |
A |
6: 122,810,649 (GRCm39) |
S210T |
probably benign |
Het |
| Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
| Grid2 |
T |
C |
6: 63,233,917 (GRCm39) |
I26T |
probably benign |
Het |
| Gzmd |
A |
G |
14: 56,367,190 (GRCm39) |
I234T |
probably benign |
Het |
| Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
| Kif26b |
T |
C |
1: 178,711,641 (GRCm39) |
|
probably null |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Klra10 |
A |
G |
6: 130,246,211 (GRCm39) |
C255R |
probably damaging |
Het |
| Lgi4 |
T |
C |
7: 30,768,366 (GRCm39) |
V455A |
probably benign |
Het |
| Mucl3 |
T |
C |
17: 35,954,530 (GRCm39) |
T11A |
probably benign |
Het |
| Neb |
C |
A |
2: 52,186,343 (GRCm39) |
V910L |
probably benign |
Het |
| Poln |
A |
G |
5: 34,307,171 (GRCm39) |
V10A |
possibly damaging |
Het |
| Polr1a |
T |
A |
6: 71,918,368 (GRCm39) |
M642K |
probably damaging |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,460,379 (GRCm39) |
Y167* |
probably null |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Sars2 |
C |
T |
7: 28,446,293 (GRCm39) |
T174I |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,480,560 (GRCm39) |
V398A |
possibly damaging |
Het |
| Slc6a2 |
C |
T |
8: 93,719,476 (GRCm39) |
T397I |
probably benign |
Het |
| Smarca4 |
G |
T |
9: 21,588,798 (GRCm39) |
R1200L |
probably benign |
Het |
| Stx7 |
G |
T |
10: 24,055,046 (GRCm39) |
A63S |
probably damaging |
Het |
| Sval3 |
G |
A |
6: 41,949,458 (GRCm39) |
V99I |
probably benign |
Het |
| Syna |
A |
G |
5: 134,588,574 (GRCm39) |
I125T |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,150,604 (GRCm39) |
S1827P |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,916,749 (GRCm39) |
V33A |
possibly damaging |
Het |
| Tpcn2 |
C |
T |
7: 144,820,359 (GRCm39) |
R373H |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,918,541 (GRCm39) |
D1511G |
possibly damaging |
Het |
| Ttc3 |
C |
A |
16: 94,219,535 (GRCm39) |
R487S |
probably damaging |
Het |
| Tubb3 |
T |
C |
8: 124,147,594 (GRCm39) |
S176P |
possibly damaging |
Het |
| Zfp189 |
C |
G |
4: 49,530,180 (GRCm39) |
Q428E |
probably benign |
Het |
| Zscan4d |
C |
T |
7: 10,799,942 (GRCm39) |
V316M |
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 |
|
R1368:Pigg
|
UTSW |
5 |
108,465,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CCTTGTATACCTGTAGGACAGTTATC -3'
(R):5'- AGCTATCTGCCTCCACCTAAG -3'
Sequencing Primer
(F):5'- GACAGTTATCATCATGTCCAGTGACC -3'
(R):5'- ACCTAAGCCCTCCTGTGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation