Incidental Mutation 'IGL00597:Gpc6'
ID |
5857 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpc6
|
Ensembl Gene |
ENSMUSG00000058571 |
Gene Name |
glypican 6 |
Synonyms |
6720429C22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
IGL00597
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
117162727-118213956 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 118188646 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 427
(S427T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078849]
[ENSMUST00000088483]
[ENSMUST00000125435]
|
AlphaFold |
Q9R087 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078849
AA Change: S417T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000077893 Gene: ENSMUSG00000058571 AA Change: S417T
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
7 |
554 |
9.3e-247 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088483
AA Change: S417T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000085835 Gene: ENSMUSG00000058571 AA Change: S417T
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
7 |
554 |
9.3e-247 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125435
AA Change: S427T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000120362 Gene: ENSMUSG00000058571 AA Change: S427T
Domain | Start | End | E-Value | Type |
Pfam:Glypican
|
15 |
564 |
7.2e-248 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183564
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, short long bones, small skull, small snout, cleft palate and decreased chondrocyte proliferation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bdkrb1 |
A |
T |
12: 105,571,210 (GRCm39) |
I259F |
probably damaging |
Het |
Chac1 |
A |
G |
2: 119,184,040 (GRCm39) |
Y214C |
probably benign |
Het |
Ctnnd2 |
A |
C |
15: 30,647,287 (GRCm39) |
T328P |
possibly damaging |
Het |
Gart |
A |
G |
16: 91,435,677 (GRCm39) |
S179P |
possibly damaging |
Het |
Gbp9 |
A |
G |
5: 105,242,364 (GRCm39) |
V125A |
probably damaging |
Het |
Ifna7 |
A |
T |
4: 88,734,675 (GRCm39) |
I71F |
probably benign |
Het |
Kcnip1 |
A |
T |
11: 33,593,289 (GRCm39) |
|
probably benign |
Het |
Kcnip1 |
A |
T |
11: 33,593,294 (GRCm39) |
|
probably null |
Het |
Krt86 |
A |
G |
15: 101,374,107 (GRCm39) |
K222R |
probably benign |
Het |
Nacad |
G |
A |
11: 6,550,921 (GRCm39) |
P757S |
probably benign |
Het |
Obox7 |
C |
A |
7: 14,397,957 (GRCm39) |
|
probably benign |
Het |
Pam |
T |
A |
1: 97,762,169 (GRCm39) |
T805S |
probably benign |
Het |
Pgam2 |
G |
A |
11: 5,753,442 (GRCm39) |
R83C |
probably damaging |
Het |
Prtg |
T |
A |
9: 72,716,926 (GRCm39) |
I89N |
probably damaging |
Het |
Rpusd4 |
T |
A |
9: 35,179,738 (GRCm39) |
V77E |
probably benign |
Het |
Sirpb1a |
T |
C |
3: 15,481,977 (GRCm39) |
Y50C |
probably damaging |
Het |
Whamm |
T |
C |
7: 81,228,014 (GRCm39) |
V87A |
probably damaging |
Het |
|
Other mutations in Gpc6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00671:Gpc6
|
APN |
14 |
117,424,199 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00928:Gpc6
|
APN |
14 |
117,163,370 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01343:Gpc6
|
APN |
14 |
117,424,224 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL01545:Gpc6
|
APN |
14 |
118,202,242 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02797:Gpc6
|
APN |
14 |
117,163,394 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT1430001:Gpc6
|
UTSW |
14 |
118,188,594 (GRCm39) |
nonsense |
probably null |
|
R0577:Gpc6
|
UTSW |
14 |
117,673,420 (GRCm39) |
missense |
probably benign |
0.03 |
R0611:Gpc6
|
UTSW |
14 |
118,212,430 (GRCm39) |
missense |
probably null |
|
R0636:Gpc6
|
UTSW |
14 |
117,861,905 (GRCm39) |
missense |
probably benign |
0.37 |
R2152:Gpc6
|
UTSW |
14 |
117,163,504 (GRCm39) |
missense |
probably benign |
0.00 |
R2242:Gpc6
|
UTSW |
14 |
117,424,199 (GRCm39) |
missense |
probably benign |
0.01 |
R2266:Gpc6
|
UTSW |
14 |
118,125,932 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2267:Gpc6
|
UTSW |
14 |
118,125,932 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2269:Gpc6
|
UTSW |
14 |
118,125,932 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3788:Gpc6
|
UTSW |
14 |
117,861,878 (GRCm39) |
missense |
probably damaging |
0.98 |
R4255:Gpc6
|
UTSW |
14 |
118,188,553 (GRCm39) |
missense |
probably benign |
0.15 |
R4276:Gpc6
|
UTSW |
14 |
117,673,328 (GRCm39) |
missense |
probably damaging |
0.99 |
R4411:Gpc6
|
UTSW |
14 |
118,188,590 (GRCm39) |
missense |
probably benign |
0.45 |
R4626:Gpc6
|
UTSW |
14 |
118,202,255 (GRCm39) |
nonsense |
probably null |
|
R4993:Gpc6
|
UTSW |
14 |
117,861,951 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5070:Gpc6
|
UTSW |
14 |
117,424,181 (GRCm39) |
missense |
probably benign |
0.01 |
R6007:Gpc6
|
UTSW |
14 |
118,188,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R6058:Gpc6
|
UTSW |
14 |
118,202,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R6488:Gpc6
|
UTSW |
14 |
118,202,125 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6901:Gpc6
|
UTSW |
14 |
118,188,629 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6981:Gpc6
|
UTSW |
14 |
117,861,960 (GRCm39) |
missense |
probably damaging |
0.98 |
R7200:Gpc6
|
UTSW |
14 |
118,202,268 (GRCm39) |
missense |
probably benign |
0.08 |
R8348:Gpc6
|
UTSW |
14 |
117,673,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R8354:Gpc6
|
UTSW |
14 |
117,163,391 (GRCm39) |
missense |
probably damaging |
0.98 |
R8413:Gpc6
|
UTSW |
14 |
118,129,761 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8454:Gpc6
|
UTSW |
14 |
117,163,391 (GRCm39) |
missense |
probably damaging |
0.98 |
R8518:Gpc6
|
UTSW |
14 |
117,163,384 (GRCm39) |
missense |
probably benign |
0.10 |
R9009:Gpc6
|
UTSW |
14 |
117,424,217 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9112:Gpc6
|
UTSW |
14 |
117,424,088 (GRCm39) |
missense |
probably benign |
0.01 |
R9481:Gpc6
|
UTSW |
14 |
117,163,432 (GRCm39) |
missense |
probably benign |
|
R9762:Gpc6
|
UTSW |
14 |
118,202,258 (GRCm39) |
missense |
probably damaging |
0.98 |
R9790:Gpc6
|
UTSW |
14 |
117,163,435 (GRCm39) |
missense |
probably damaging |
0.98 |
R9791:Gpc6
|
UTSW |
14 |
117,163,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2012-04-20 |