Incidental Mutation 'R2940:Pigc'
| ID |
255112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigc
|
| Ensembl Gene |
ENSMUSG00000026698 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class C |
| Synonyms |
3110030E07Rik |
| MMRRC Submission |
040517-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2940 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
161796755-161801004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 161798239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 74
(Y74H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028021]
[ENSMUST00000111594]
[ENSMUST00000159648]
[ENSMUST00000160881]
[ENSMUST00000162676]
[ENSMUST00000193784]
|
| AlphaFold |
Q9CXR4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028021
AA Change: Y74H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028021
Gene: ENSMUSG00000026698
AA Change: Y74H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPI2
|
14 |
284 |
6.2e-90 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111594
AA Change: Y74H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107221
Gene: ENSMUSG00000026698
AA Change: Y74H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPI2
|
14 |
284 |
1.7e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141397
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159648
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160881
AA Change: Y74H
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125321
Gene: ENSMUSG00000026698
AA Change: Y74H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPI2
|
14 |
140 |
2.8e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161826
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162676
|
| SMART Domains |
Protein: ENSMUSP00000124751
Gene: ENSMUSG00000086277
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4548
|
17 |
181 |
1.9e-89 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193784
AA Change: Y74H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141646
Gene: ENSMUSG00000026698
AA Change: Y74H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPI2
|
14 |
284 |
1.7e-94 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
G |
13: 68,878,424 (GRCm39) |
W405R |
probably damaging |
Het |
| Apc |
G |
A |
18: 34,409,723 (GRCm39) |
R221H |
probably damaging |
Het |
| Armcx6 |
A |
T |
X: 133,650,625 (GRCm39) |
W69R |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,012,954 (GRCm39) |
D1878G |
probably damaging |
Het |
| Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,978,735 (GRCm39) |
I573V |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,809,745 (GRCm39) |
H1517R |
possibly damaging |
Het |
| Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
| Dmap1 |
G |
A |
4: 117,533,202 (GRCm39) |
T284M |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
| Eif3a |
T |
C |
19: 60,762,115 (GRCm39) |
T487A |
probably benign |
Het |
| Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
| Fam180a |
A |
T |
6: 35,290,564 (GRCm39) |
S140T |
possibly damaging |
Het |
| Fibcd1 |
T |
C |
2: 31,707,276 (GRCm39) |
Y327C |
probably damaging |
Het |
| Haghl |
A |
G |
17: 26,004,060 (GRCm39) |
V8A |
possibly damaging |
Het |
| Igfbp1 |
A |
G |
11: 7,151,970 (GRCm39) |
T258A |
probably benign |
Het |
| Isl1 |
T |
C |
13: 116,444,835 (GRCm39) |
T65A |
possibly damaging |
Het |
| Khdrbs3 |
T |
A |
15: 68,921,239 (GRCm39) |
D185E |
probably damaging |
Het |
| Klc1 |
C |
T |
12: 111,772,451 (GRCm39) |
R157C |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,830,714 (GRCm39) |
S1484G |
probably benign |
Het |
| Lman1 |
G |
T |
18: 66,117,344 (GRCm39) |
P466Q |
possibly damaging |
Het |
| Map3k4 |
C |
T |
17: 12,480,157 (GRCm39) |
E682K |
probably damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nbea |
C |
G |
3: 55,842,045 (GRCm39) |
E1879Q |
probably benign |
Het |
| Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
| Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
| Plek |
C |
T |
11: 16,942,887 (GRCm39) |
|
probably null |
Het |
| Pramel28 |
A |
G |
4: 143,693,247 (GRCm39) |
V77A |
probably benign |
Het |
| Rasgrf1 |
C |
T |
9: 89,873,767 (GRCm39) |
A692V |
possibly damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rnf25 |
A |
G |
1: 74,635,047 (GRCm39) |
V135A |
possibly damaging |
Het |
| Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
| Sh3rf2 |
G |
A |
18: 42,244,505 (GRCm39) |
|
probably null |
Het |
| Sh3tc2 |
A |
G |
18: 62,122,757 (GRCm39) |
D506G |
probably damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,090,779 (GRCm39) |
I547F |
possibly damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,734,236 (GRCm39) |
V206I |
probably benign |
Het |
| Smc1a |
T |
A |
X: 150,816,695 (GRCm39) |
Y516N |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,362,015 (GRCm39) |
D123G |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
| Trpv1 |
A |
G |
11: 73,145,675 (GRCm39) |
K403R |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
| Tubb6 |
A |
G |
18: 67,534,994 (GRCm39) |
N298D |
probably damaging |
Het |
| Xpo7 |
G |
T |
14: 70,904,577 (GRCm39) |
L1020I |
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,904,576 (GRCm39) |
L1020Q |
probably damaging |
Het |
| Zswim4 |
A |
T |
8: 84,950,377 (GRCm39) |
L611Q |
probably damaging |
Het |
|
| Other mutations in Pigc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01725:Pigc
|
APN |
1 |
161,798,914 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02009:Pigc
|
APN |
1 |
161,798,134 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02586:Pigc
|
APN |
1 |
161,798,503 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03095:Pigc
|
APN |
1 |
161,798,345 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03109:Pigc
|
APN |
1 |
161,798,345 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
apocryphon
|
UTSW |
1 |
161,798,663 (GRCm39) |
missense |
probably benign |
0.21 |
|
pistis
|
UTSW |
1 |
161,798,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6228_Pigc_444
|
UTSW |
1 |
161,798,036 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0321:Pigc
|
UTSW |
1 |
161,798,668 (GRCm39) |
nonsense |
probably null |
|
|
R1450:Pigc
|
UTSW |
1 |
161,798,822 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1708:Pigc
|
UTSW |
1 |
161,798,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1857:Pigc
|
UTSW |
1 |
161,798,446 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1875:Pigc
|
UTSW |
1 |
161,798,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2371:Pigc
|
UTSW |
1 |
161,798,579 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3706:Pigc
|
UTSW |
1 |
161,798,663 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3707:Pigc
|
UTSW |
1 |
161,798,663 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3708:Pigc
|
UTSW |
1 |
161,798,663 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3725:Pigc
|
UTSW |
1 |
161,798,860 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5193:Pigc
|
UTSW |
1 |
161,798,465 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5682:Pigc
|
UTSW |
1 |
161,798,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6228:Pigc
|
UTSW |
1 |
161,798,036 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7143:Pigc
|
UTSW |
1 |
161,798,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7509:Pigc
|
UTSW |
1 |
161,798,545 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7829:Pigc
|
UTSW |
1 |
161,798,033 (GRCm39) |
missense |
probably benign |
|
|
R8030:Pigc
|
UTSW |
1 |
161,798,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8135:Pigc
|
UTSW |
1 |
161,798,134 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9109:Pigc
|
UTSW |
1 |
161,798,032 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9298:Pigc
|
UTSW |
1 |
161,798,032 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9703:Pigc
|
UTSW |
1 |
161,798,176 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACACCCCAGAAGTCAAGTGG -3'
(R):5'- TCAGGGTCTTTAGCACAGGTG -3'
Sequencing Primer
(F):5'- GCAGAAGGTTTTATATGAGCGGC -3'
(R):5'- GGTCTTTAGCACAGGTGAAAAAC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation