Incidental Mutation 'R7765:Pigg'
| ID |
598176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigg
|
| Ensembl Gene |
ENSMUSG00000029263 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class G |
| Synonyms |
Gpi7 |
| MMRRC Submission |
045821-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R7765 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108460679-108497225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 108461920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 84
(S84A)
|
| 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: S84A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: S84A
| 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
AA Change: S84A
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: S84A
| 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: S84A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: S84A
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
T |
C |
14: 66,297,345 (GRCm39) |
E187G |
probably damaging |
Het |
| Adam28 |
C |
T |
14: 68,846,555 (GRCm39) |
|
probably null |
Het |
| Ap2a1 |
G |
A |
7: 44,559,160 (GRCm39) |
T189M |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,859,644 (GRCm39) |
Y845H |
probably benign |
Het |
| Asb14 |
G |
T |
14: 26,619,718 (GRCm39) |
V55F |
probably benign |
Het |
| Brap |
A |
T |
5: 121,800,192 (GRCm39) |
D71V |
probably damaging |
Het |
| Ccdc93 |
T |
G |
1: 121,427,042 (GRCm39) |
F610V |
probably damaging |
Het |
| Cfap46 |
T |
G |
7: 139,231,480 (GRCm39) |
D911A |
|
Het |
| Chn2 |
T |
C |
6: 54,275,137 (GRCm39) |
|
probably null |
Het |
| Cib3 |
A |
G |
8: 72,958,269 (GRCm39) |
F156S |
probably damaging |
Het |
| Csnk2a1-ps3 |
G |
A |
1: 156,352,354 (GRCm39) |
G185D |
possibly damaging |
Het |
| Ctif |
A |
T |
18: 75,738,715 (GRCm39) |
V164D |
probably damaging |
Het |
| Ddx27 |
T |
A |
2: 166,869,879 (GRCm39) |
F405I |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,069,594 (GRCm39) |
T270A |
probably benign |
Het |
| Dst |
T |
A |
1: 34,314,775 (GRCm39) |
S4455T |
probably damaging |
Het |
| Efcab8 |
A |
G |
2: 153,685,110 (GRCm39) |
K47R |
|
Het |
| Efhd2 |
T |
C |
4: 141,601,886 (GRCm39) |
E98G |
probably damaging |
Het |
| Fcmr |
T |
A |
1: 130,802,025 (GRCm39) |
L93Q |
probably damaging |
Het |
| Fhdc1 |
T |
A |
3: 84,351,906 (GRCm39) |
E1106D |
probably benign |
Het |
| Gcnt1 |
C |
T |
19: 17,306,723 (GRCm39) |
G334D |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,145,647 (GRCm39) |
F488L |
probably benign |
Het |
| Hmgxb4 |
C |
A |
8: 75,727,436 (GRCm39) |
H140N |
probably damaging |
Het |
| Ifi214 |
A |
T |
1: 173,352,402 (GRCm39) |
F342L |
probably damaging |
Het |
| Ip6k1 |
A |
G |
9: 107,909,288 (GRCm39) |
D105G |
possibly damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kif18a |
G |
A |
2: 109,137,285 (GRCm39) |
D506N |
probably benign |
Het |
| Klf17 |
T |
A |
4: 117,617,812 (GRCm39) |
M182L |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,750,215 (GRCm39) |
F2493L |
unknown |
Het |
| Lefty1 |
A |
G |
1: 180,764,112 (GRCm39) |
E84G |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,884,117 (GRCm39) |
L2975R |
possibly damaging |
Het |
| Magea5 |
G |
A |
X: 153,837,174 (GRCm39) |
P73S |
possibly damaging |
Het |
| Mctp2 |
T |
C |
7: 71,740,079 (GRCm39) |
|
probably null |
Het |
| Mprip |
C |
T |
11: 59,649,047 (GRCm39) |
T917M |
possibly damaging |
Het |
| Myh8 |
T |
A |
11: 67,194,481 (GRCm39) |
I1564N |
probably benign |
Het |
| Npc1 |
A |
T |
18: 12,328,105 (GRCm39) |
M1068K |
probably benign |
Het |
| Nr2e1 |
A |
G |
10: 42,450,433 (GRCm39) |
C60R |
probably benign |
Het |
| Nrxn3 |
A |
G |
12: 89,780,254 (GRCm39) |
I29V |
probably benign |
Het |
| Ntsr1 |
T |
A |
2: 180,180,610 (GRCm39) |
H305Q |
probably damaging |
Het |
| Or2y1e |
A |
G |
11: 49,218,571 (GRCm39) |
E111G |
probably damaging |
Het |
| Or8g35 |
A |
G |
9: 39,381,612 (GRCm39) |
S137P |
probably benign |
Het |
| Or8h10 |
T |
A |
2: 86,808,538 (GRCm39) |
I201F |
probably damaging |
Het |
| Pate2 |
A |
C |
9: 35,581,197 (GRCm39) |
E22D |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,158 (GRCm39) |
T209A |
probably damaging |
Het |
| Pdss2 |
C |
T |
10: 43,340,628 (GRCm39) |
S352F |
probably benign |
Het |
| Pfn3 |
T |
A |
13: 55,562,900 (GRCm39) |
D27V |
probably damaging |
Het |
| Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
| Prss22 |
C |
T |
17: 24,213,592 (GRCm39) |
G233E |
probably damaging |
Het |
| Rad51b |
T |
C |
12: 79,850,044 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,438,970 (GRCm39) |
V1632A |
possibly damaging |
Het |
| Serpinb3d |
T |
G |
1: 107,007,512 (GRCm39) |
D158A |
probably damaging |
Het |
| Sh3yl1 |
T |
C |
12: 31,008,868 (GRCm39) |
L266P |
probably damaging |
Het |
| Sidt2 |
A |
T |
9: 45,852,873 (GRCm39) |
|
probably null |
Het |
| Stox1 |
C |
T |
10: 62,501,778 (GRCm39) |
V261M |
probably benign |
Het |
| Taf7l2 |
T |
A |
10: 115,949,158 (GRCm39) |
K123* |
probably null |
Het |
| Tll1 |
A |
G |
8: 64,504,483 (GRCm39) |
Y638H |
probably damaging |
Het |
| Tst |
A |
T |
15: 78,289,816 (GRCm39) |
M73K |
possibly damaging |
Het |
| Tuba4a |
C |
T |
1: 75,193,003 (GRCm39) |
V232M |
probably benign |
Het |
| Unk |
T |
A |
11: 115,943,908 (GRCm39) |
V343D |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,039,426 (GRCm39) |
V1302A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,885,234 (GRCm39) |
L1271H |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,413,361 (GRCm39) |
P192L |
probably benign |
Het |
| Zfp995 |
A |
G |
17: 22,100,984 (GRCm39) |
Y38H |
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 |
|
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 |
|
|
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'- AAATGGGCCTTCTTTCAGGTTG -3'
(R):5'- CTCCAAGTCGGTTAAATAATCGCTC -3'
Sequencing Primer
(F):5'- GGCCTTCTTTCAGGTTGAAATAG -3'
(R):5'- GTCGGTTAAATAATCGCTCTAAACC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation