Incidental Mutation 'R6292:Pign'
| ID |
508479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pign
|
| Ensembl Gene |
ENSMUSG00000056536 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class N |
| Synonyms |
|
| MMRRC Submission |
044461-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R6292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
105446147-105591402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105512802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 627
(V627D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070699]
[ENSMUST00000186485]
[ENSMUST00000187537]
[ENSMUST00000190811]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070699
AA Change: V627D
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000069969
Gene: ENSMUSG00000056536
AA Change: V627D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
116 |
303 |
1.2e-10 |
PFAM |
|
Pfam:Sulfatase
|
148 |
334 |
2.1e-8 |
PFAM |
|
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
|
Pfam:PigN
|
430 |
884 |
2.3e-138 |
PFAM |
|
transmembrane domain
|
893 |
915 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186485
AA Change: V627D
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139638
Gene: ENSMUSG00000056536
AA Change: V627D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
109 |
330 |
3.7e-11 |
PFAM |
|
Pfam:Sulfatase
|
148 |
334 |
2.1e-8 |
PFAM |
|
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
|
Pfam:PigN
|
430 |
884 |
1.5e-141 |
PFAM |
|
transmembrane domain
|
893 |
915 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187537
AA Change: V627D
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140020
Gene: ENSMUSG00000056536
AA Change: V627D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
46 |
331 |
1.2e-12 |
PFAM |
|
Pfam:Sulfatase
|
146 |
334 |
2.9e-6 |
PFAM |
|
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
|
Pfam:PigN
|
430 |
800 |
5.9e-86 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190811
AA Change: V627D
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140844
Gene: ENSMUSG00000056536
AA Change: V627D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
46 |
331 |
1.1e-12 |
PFAM |
|
Pfam:Sulfatase
|
146 |
334 |
2.8e-6 |
PFAM |
|
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
|
Pfam:PigN
|
430 |
794 |
4.4e-86 |
PFAM |
|
| Meta Mutation Damage Score |
0.6290 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (50/50) |
| 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 found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit abnormal gastrulation, forebrain hypoplasia, coloboma, and microphthalmia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
A |
5: 114,338,312 (GRCm39) |
V709E |
probably damaging |
Het |
| Ankrd33b |
C |
T |
15: 31,325,231 (GRCm39) |
|
probably null |
Het |
| Apaf1 |
T |
C |
10: 90,827,425 (GRCm39) |
T1202A |
possibly damaging |
Het |
| Apip |
G |
T |
2: 102,922,812 (GRCm39) |
C210F |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,659,550 (GRCm39) |
H170L |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,378,015 (GRCm39) |
|
probably null |
Het |
| Ep300 |
T |
A |
15: 81,500,935 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,384 (GRCm39) |
H39Y |
probably damaging |
Het |
| Gdap1l1 |
A |
T |
2: 163,293,427 (GRCm39) |
I218F |
probably damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,252 (GRCm39) |
C306S |
probably damaging |
Het |
| Gm9961 |
C |
T |
16: 11,748,336 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr27 |
C |
T |
6: 99,670,619 (GRCm39) |
S327L |
possibly damaging |
Het |
| Hectd3 |
A |
C |
4: 116,856,005 (GRCm39) |
T435P |
probably damaging |
Het |
| Hs3st1 |
T |
A |
5: 39,772,133 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Hykk |
T |
C |
9: 54,828,110 (GRCm39) |
|
probably null |
Het |
| Lilra5 |
T |
C |
7: 4,241,338 (GRCm39) |
S92P |
possibly damaging |
Het |
| Lrig1 |
A |
T |
6: 94,593,426 (GRCm39) |
N418K |
probably damaging |
Het |
| Miga1 |
A |
G |
3: 152,023,356 (GRCm39) |
F232L |
probably benign |
Het |
| Mkrn2 |
T |
A |
6: 115,590,295 (GRCm39) |
M217K |
probably damaging |
Het |
| Myh7b |
A |
T |
2: 155,474,316 (GRCm39) |
Q1677L |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,579,867 (GRCm39) |
E645G |
probably damaging |
Het |
| Nckap5 |
T |
C |
1: 125,842,752 (GRCm39) |
K1752E |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,507,770 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
T |
C |
3: 110,051,202 (GRCm39) |
|
probably benign |
Het |
| Nup133 |
A |
G |
8: 124,644,176 (GRCm39) |
V730A |
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,063 (GRCm39) |
M1K |
probably null |
Het |
| Or51v14 |
T |
A |
7: 103,261,386 (GRCm39) |
H58L |
probably damaging |
Het |
| Paqr6 |
C |
T |
3: 88,275,205 (GRCm39) |
P213S |
probably damaging |
Het |
| Rasal1 |
T |
A |
5: 120,797,685 (GRCm39) |
V139E |
probably damaging |
Het |
| Scgb1b24 |
G |
T |
7: 33,443,577 (GRCm39) |
A79S |
possibly damaging |
Het |
| Slc25a28 |
T |
C |
19: 43,653,031 (GRCm39) |
D210G |
probably benign |
Het |
| Slc38a3 |
A |
T |
9: 107,532,353 (GRCm39) |
I393N |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,090,790 (GRCm39) |
N465D |
probably damaging |
Het |
| Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,608,292 (GRCm39) |
A117V |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,219,931 (GRCm39) |
R371H |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,565,780 (GRCm39) |
S872P |
probably damaging |
Het |
| Tdrd3 |
G |
T |
14: 87,743,690 (GRCm39) |
C540F |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,319,897 (GRCm39) |
L23Q |
probably benign |
Het |
| Top1 |
A |
T |
2: 160,540,061 (GRCm39) |
Y213F |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,712,160 (GRCm39) |
|
probably null |
Het |
| Unc79 |
C |
A |
12: 103,108,991 (GRCm39) |
A2005D |
possibly damaging |
Het |
| Upb1 |
T |
C |
10: 75,274,005 (GRCm39) |
L344P |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,579 (GRCm39) |
S290C |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,866 (GRCm39) |
I219M |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,451,152 (GRCm39) |
T729A |
probably damaging |
Het |
| Washc5 |
C |
T |
15: 59,227,783 (GRCm39) |
R393H |
probably damaging |
Het |
|
| Other mutations in Pign |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00485:Pign
|
APN |
1 |
105,525,448 (GRCm39) |
nonsense |
probably null |
|
|
IGL00770:Pign
|
APN |
1 |
105,525,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00774:Pign
|
APN |
1 |
105,525,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00828:Pign
|
APN |
1 |
105,481,845 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01407:Pign
|
APN |
1 |
105,517,027 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01523:Pign
|
APN |
1 |
105,580,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01953:Pign
|
APN |
1 |
105,516,764 (GRCm39) |
splice site |
probably benign |
|
|
IGL02389:Pign
|
APN |
1 |
105,574,506 (GRCm39) |
nonsense |
probably null |
|
|
PIT4810001:Pign
|
UTSW |
1 |
105,525,487 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0080:Pign
|
UTSW |
1 |
105,480,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0097:Pign
|
UTSW |
1 |
105,515,701 (GRCm39) |
splice site |
probably benign |
|
|
R0302:Pign
|
UTSW |
1 |
105,516,818 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0573:Pign
|
UTSW |
1 |
105,580,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0580:Pign
|
UTSW |
1 |
105,519,419 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0946:Pign
|
UTSW |
1 |
105,519,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1397:Pign
|
UTSW |
1 |
105,585,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Pign
|
UTSW |
1 |
105,512,727 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1462:Pign
|
UTSW |
1 |
105,512,727 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1751:Pign
|
UTSW |
1 |
105,580,917 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1753:Pign
|
UTSW |
1 |
105,517,042 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1767:Pign
|
UTSW |
1 |
105,580,917 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1854:Pign
|
UTSW |
1 |
105,482,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1907:Pign
|
UTSW |
1 |
105,565,940 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2845:Pign
|
UTSW |
1 |
105,585,521 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2846:Pign
|
UTSW |
1 |
105,585,521 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3718:Pign
|
UTSW |
1 |
105,577,006 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3970:Pign
|
UTSW |
1 |
105,583,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4067:Pign
|
UTSW |
1 |
105,515,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4110:Pign
|
UTSW |
1 |
105,481,540 (GRCm39) |
unclassified |
probably benign |
|
|
R4387:Pign
|
UTSW |
1 |
105,449,785 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4393:Pign
|
UTSW |
1 |
105,449,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4472:Pign
|
UTSW |
1 |
105,575,945 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4519:Pign
|
UTSW |
1 |
105,525,391 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4619:Pign
|
UTSW |
1 |
105,449,715 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4746:Pign
|
UTSW |
1 |
105,512,749 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4859:Pign
|
UTSW |
1 |
105,575,892 (GRCm39) |
nonsense |
probably null |
|
|
R4893:Pign
|
UTSW |
1 |
105,574,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Pign
|
UTSW |
1 |
105,572,227 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5046:Pign
|
UTSW |
1 |
105,449,798 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5377:Pign
|
UTSW |
1 |
105,585,537 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5388:Pign
|
UTSW |
1 |
105,583,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5482:Pign
|
UTSW |
1 |
105,474,435 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5594:Pign
|
UTSW |
1 |
105,574,594 (GRCm39) |
intron |
probably benign |
|
|
R5639:Pign
|
UTSW |
1 |
105,517,040 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5778:Pign
|
UTSW |
1 |
105,519,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5821:Pign
|
UTSW |
1 |
105,516,788 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5928:Pign
|
UTSW |
1 |
105,485,792 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5979:Pign
|
UTSW |
1 |
105,516,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6213:Pign
|
UTSW |
1 |
105,516,991 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6343:Pign
|
UTSW |
1 |
105,512,820 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6566:Pign
|
UTSW |
1 |
105,565,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6856:Pign
|
UTSW |
1 |
105,481,620 (GRCm39) |
nonsense |
probably null |
|
|
R6954:Pign
|
UTSW |
1 |
105,481,622 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7361:Pign
|
UTSW |
1 |
105,512,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7582:Pign
|
UTSW |
1 |
105,577,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7622:Pign
|
UTSW |
1 |
105,575,842 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7742:Pign
|
UTSW |
1 |
105,480,122 (GRCm39) |
missense |
probably benign |
|
|
R7892:Pign
|
UTSW |
1 |
105,585,401 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8273:Pign
|
UTSW |
1 |
105,516,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8352:Pign
|
UTSW |
1 |
105,575,917 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8452:Pign
|
UTSW |
1 |
105,575,917 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8826:Pign
|
UTSW |
1 |
105,481,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8841:Pign
|
UTSW |
1 |
105,485,634 (GRCm39) |
intron |
probably benign |
|
|
R8886:Pign
|
UTSW |
1 |
105,512,779 (GRCm39) |
missense |
probably benign |
|
|
R8904:Pign
|
UTSW |
1 |
105,519,359 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9074:Pign
|
UTSW |
1 |
105,556,246 (GRCm39) |
missense |
unknown |
|
|
R9197:Pign
|
UTSW |
1 |
105,516,818 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9630:Pign
|
UTSW |
1 |
105,481,591 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9702:Pign
|
UTSW |
1 |
105,485,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Pign
|
UTSW |
1 |
105,585,359 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Pign
|
UTSW |
1 |
105,585,545 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCTTGAGTGACAGGAATACAG -3'
(R):5'- GGTTACAACTAGCACTGCCATG -3'
Sequencing Primer
(F):5'- TCTTGAGTGACAGGAATACAGGAATG -3'
(R):5'- GCCATGTGCTTGCCCTG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation