Incidental Mutation 'IGL02930:Gpc1'
ID |
364071 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpc1
|
Ensembl Gene |
ENSMUSG00000034220 |
Gene Name |
glypican 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02930
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
92759367-92787933 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 92785021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 355
(E355*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047199
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045970]
|
AlphaFold |
Q9QZF2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045970
AA Change: E355*
|
SMART Domains |
Protein: ENSMUSP00000047199 Gene: ENSMUSG00000034220 AA Change: E355*
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
11 |
553 |
6.2e-228 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190215
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190586
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190677
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212504
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,328,226 (GRCm39) |
N3433S |
possibly damaging |
Het |
Actl9 |
T |
C |
17: 33,653,073 (GRCm39) |
S378P |
probably damaging |
Het |
Aldh6a1 |
C |
A |
12: 84,480,756 (GRCm39) |
L426F |
possibly damaging |
Het |
Ankef1 |
T |
C |
2: 136,392,245 (GRCm39) |
I478T |
possibly damaging |
Het |
Cabs1 |
A |
G |
5: 88,127,745 (GRCm39) |
D132G |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,879,643 (GRCm39) |
E475G |
probably damaging |
Het |
Cmtm2b |
A |
C |
8: 105,056,402 (GRCm39) |
M104L |
probably benign |
Het |
Cops2 |
T |
C |
2: 125,674,109 (GRCm39) |
|
probably benign |
Het |
Dnajc4 |
C |
A |
19: 6,966,801 (GRCm39) |
V176F |
possibly damaging |
Het |
Eepd1 |
A |
G |
9: 25,394,536 (GRCm39) |
N267D |
probably damaging |
Het |
Elobl |
T |
G |
11: 88,856,012 (GRCm39) |
D17A |
possibly damaging |
Het |
Erich6 |
G |
A |
3: 58,529,775 (GRCm39) |
|
probably benign |
Het |
Flna |
G |
A |
X: 73,267,506 (GRCm39) |
R2548C |
probably damaging |
Het |
Gm6878 |
T |
G |
14: 67,548,439 (GRCm39) |
|
probably benign |
Het |
Islr |
C |
T |
9: 58,065,483 (GRCm39) |
|
probably benign |
Het |
Mex3a |
A |
T |
3: 88,443,532 (GRCm39) |
I203L |
probably benign |
Het |
Or5p58 |
A |
T |
7: 107,694,621 (GRCm39) |
I52N |
probably damaging |
Het |
Or6c88 |
T |
C |
10: 129,407,184 (GRCm39) |
I220T |
probably damaging |
Het |
Or8g24 |
G |
T |
9: 38,989,308 (GRCm39) |
H244Q |
probably damaging |
Het |
Prokr2 |
T |
C |
2: 132,215,394 (GRCm39) |
S195G |
probably benign |
Het |
Pyroxd1 |
A |
T |
6: 142,304,778 (GRCm39) |
D335V |
probably damaging |
Het |
Rps6kl1 |
T |
C |
12: 85,196,548 (GRCm39) |
T39A |
probably benign |
Het |
Rusc2 |
G |
A |
4: 43,416,376 (GRCm39) |
A561T |
probably damaging |
Het |
Sel1l3 |
A |
C |
5: 53,280,559 (GRCm39) |
V937G |
possibly damaging |
Het |
Sh3pxd2b |
A |
G |
11: 32,367,161 (GRCm39) |
T382A |
possibly damaging |
Het |
Tbx21 |
A |
G |
11: 96,990,865 (GRCm39) |
I271T |
probably damaging |
Het |
Timeless |
T |
C |
10: 128,083,060 (GRCm39) |
V632A |
probably benign |
Het |
Tle3 |
A |
G |
9: 61,301,981 (GRCm39) |
N67S |
possibly damaging |
Het |
Tln2 |
G |
A |
9: 67,300,944 (GRCm39) |
R95* |
probably null |
Het |
Trim24 |
A |
G |
6: 37,928,380 (GRCm39) |
|
probably benign |
Het |
Uggt1 |
A |
T |
1: 36,196,537 (GRCm39) |
D1253E |
probably benign |
Het |
Vmn1r8 |
A |
G |
6: 57,013,579 (GRCm39) |
K210R |
probably benign |
Het |
|
Other mutations in Gpc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01411:Gpc1
|
APN |
1 |
92,784,736 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01697:Gpc1
|
APN |
1 |
92,786,132 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02282:Gpc1
|
APN |
1 |
92,785,689 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03160:Gpc1
|
APN |
1 |
92,785,579 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4514001:Gpc1
|
UTSW |
1 |
92,785,279 (GRCm39) |
missense |
probably benign |
0.05 |
R0115:Gpc1
|
UTSW |
1 |
92,785,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R0383:Gpc1
|
UTSW |
1 |
92,782,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R0399:Gpc1
|
UTSW |
1 |
92,785,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0938:Gpc1
|
UTSW |
1 |
92,785,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0941:Gpc1
|
UTSW |
1 |
92,785,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0942:Gpc1
|
UTSW |
1 |
92,785,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2483:Gpc1
|
UTSW |
1 |
92,783,660 (GRCm39) |
missense |
probably benign |
0.35 |
R3749:Gpc1
|
UTSW |
1 |
92,785,304 (GRCm39) |
nonsense |
probably null |
|
R5033:Gpc1
|
UTSW |
1 |
92,784,751 (GRCm39) |
missense |
probably damaging |
0.97 |
R5154:Gpc1
|
UTSW |
1 |
92,784,751 (GRCm39) |
missense |
probably damaging |
0.97 |
R5362:Gpc1
|
UTSW |
1 |
92,782,615 (GRCm39) |
missense |
probably benign |
0.00 |
R5626:Gpc1
|
UTSW |
1 |
92,784,841 (GRCm39) |
critical splice donor site |
probably null |
|
R5693:Gpc1
|
UTSW |
1 |
92,785,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R7268:Gpc1
|
UTSW |
1 |
92,786,093 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7790:Gpc1
|
UTSW |
1 |
92,781,171 (GRCm39) |
missense |
probably benign |
|
R7875:Gpc1
|
UTSW |
1 |
92,782,970 (GRCm39) |
critical splice donor site |
probably null |
|
R9225:Gpc1
|
UTSW |
1 |
92,783,742 (GRCm39) |
missense |
probably damaging |
1.00 |
X0020:Gpc1
|
UTSW |
1 |
92,782,703 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Gpc1
|
UTSW |
1 |
92,785,208 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2015-12-18 |