Incidental Mutation 'R5329:Pigg'
| ID |
422211 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigg
|
| Ensembl Gene |
ENSMUSG00000029263 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class G |
| Synonyms |
Gpi7 |
| MMRRC Submission |
042911-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R5329 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108460679-108497225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108462026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 119
(I119T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031189]
[ENSMUST00000118910]
[ENSMUST00000119014]
|
| AlphaFold |
D3Z3Y1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031189
AA Change: I119T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: I119T
| 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 damaging
Transcript: ENSMUST00000118910
AA Change: I119T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: I119T
| 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: I119T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: I119T
| 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 |
0.8615 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (61/62) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430005L14Rik |
G |
A |
4: 154,044,284 (GRCm39) |
V32I |
probably benign |
Het |
| Abcg4 |
A |
T |
9: 44,190,842 (GRCm39) |
M19K |
probably benign |
Het |
| Acsm1 |
A |
G |
7: 119,255,274 (GRCm39) |
T392A |
probably benign |
Het |
| Adam19 |
A |
T |
11: 46,015,853 (GRCm39) |
I338F |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,807,612 (GRCm39) |
M349I |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,587,059 (GRCm39) |
|
probably benign |
Het |
| Bptf |
T |
C |
11: 106,964,121 (GRCm39) |
D1628G |
probably benign |
Het |
| Camk2d |
C |
T |
3: 126,391,131 (GRCm39) |
Q15* |
probably null |
Het |
| Camk2g |
T |
G |
14: 20,843,999 (GRCm39) |
D12A |
possibly damaging |
Het |
| Cemip2 |
T |
C |
19: 21,775,693 (GRCm39) |
I312T |
probably benign |
Het |
| Cgn |
T |
C |
3: 94,687,300 (GRCm39) |
M1V |
probably null |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Dcbld1 |
C |
A |
10: 52,160,353 (GRCm39) |
|
probably benign |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Efcab3 |
T |
G |
11: 104,644,632 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
A |
15: 102,220,953 (GRCm39) |
L903Q |
probably damaging |
Het |
| Gm5117 |
T |
A |
8: 32,227,910 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5150 |
T |
C |
3: 16,017,588 (GRCm39) |
T228A |
probably benign |
Het |
| Gm5435 |
A |
T |
12: 82,543,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr156 |
T |
A |
16: 37,825,810 (GRCm39) |
C676S |
probably benign |
Het |
| Gstt3 |
C |
T |
10: 75,610,685 (GRCm39) |
E230K |
possibly damaging |
Het |
| Jarid2 |
A |
G |
13: 45,059,747 (GRCm39) |
I660V |
possibly damaging |
Het |
| Kif13a |
A |
G |
13: 46,928,877 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
T |
A |
5: 123,902,254 (GRCm39) |
V299D |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lipk |
T |
A |
19: 33,997,613 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
T |
C |
18: 77,420,378 (GRCm39) |
L334P |
probably damaging |
Het |
| Macc1 |
T |
A |
12: 119,410,212 (GRCm39) |
Y327N |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,010,876 (GRCm39) |
S705L |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Ncam2 |
A |
T |
16: 81,231,707 (GRCm39) |
Q57L |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,522,102 (GRCm39) |
E645G |
probably damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,751,332 (GRCm39) |
M1K |
probably null |
Het |
| Nlrp9b |
A |
T |
7: 19,757,916 (GRCm39) |
R384S |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,780,354 (GRCm39) |
H62R |
possibly damaging |
Het |
| Or2h2b-ps1 |
T |
A |
17: 37,480,891 (GRCm39) |
Y216F |
probably damaging |
Het |
| Or4c125 |
T |
A |
2: 89,169,803 (GRCm39) |
Y281F |
probably damaging |
Het |
| Or51i1 |
T |
C |
7: 103,671,204 (GRCm39) |
H107R |
probably damaging |
Het |
| Or8b39 |
A |
T |
9: 37,996,422 (GRCm39) |
M97L |
probably benign |
Het |
| Or8h7 |
A |
G |
2: 86,720,964 (GRCm39) |
L185S |
probably damaging |
Het |
| Pdzph1 |
T |
A |
17: 59,281,875 (GRCm39) |
I136F |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,294,762 (GRCm39) |
H215R |
probably damaging |
Het |
| Septin14 |
C |
T |
5: 129,762,978 (GRCm39) |
|
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,299,079 (GRCm39) |
M166T |
possibly damaging |
Het |
| Spock3 |
A |
G |
8: 63,798,816 (GRCm39) |
D279G |
probably damaging |
Het |
| Suco |
T |
C |
1: 161,660,999 (GRCm39) |
I967V |
probably damaging |
Het |
| Tgtp1 |
A |
G |
11: 48,878,003 (GRCm39) |
L234P |
probably damaging |
Het |
| Tmem176a |
A |
G |
6: 48,819,151 (GRCm39) |
D4G |
probably benign |
Het |
| Ugt1a10 |
G |
A |
1: 88,143,976 (GRCm39) |
A199T |
probably damaging |
Het |
| Uox |
A |
G |
3: 146,330,300 (GRCm39) |
D152G |
probably damaging |
Het |
| Vmn1r35 |
C |
T |
6: 66,656,490 (GRCm39) |
W60* |
probably null |
Het |
| Vmn2r103 |
T |
C |
17: 20,032,433 (GRCm39) |
C736R |
probably damaging |
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 |
|
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'- TTCGAACTGGACCAAGCTGC -3'
(R):5'- GAGGGATGAACTTCAGCTACTTAAC -3'
Sequencing Primer
(F):5'- CCACCACCTCTCTTCAGTAAAGTGG -3'
(R):5'- ACTTCAGCTACTTAACAAGGGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation