Incidental Mutation 'IGL02634:Ggcx'
ID |
301418 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ggcx
|
Ensembl Gene |
ENSMUSG00000053460 |
Gene Name |
gamma-glutamyl carboxylase |
Synonyms |
vitamin K-dependent carboxylase |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.892)
|
Stock # |
IGL02634
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
72391291-72407695 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 72395286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 126
(A126S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065906]
[ENSMUST00000205738]
|
AlphaFold |
Q9QYC7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065906
AA Change: A126S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000070109 Gene: ENSMUSG00000053460 AA Change: A126S
Domain | Start | End | E-Value | Type |
HTTM
|
56 |
315 |
1.34e-131 |
SMART |
low complexity region
|
368 |
377 |
N/A |
INTRINSIC |
low complexity region
|
630 |
645 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132995
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205738
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207012
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] PHENOTYPE: Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
T |
A |
11: 50,683,548 (GRCm39) |
C943* |
probably null |
Het |
Arhgef28 |
A |
T |
13: 98,187,566 (GRCm39) |
V243D |
probably benign |
Het |
Arrdc3 |
T |
A |
13: 81,038,884 (GRCm39) |
I62K |
probably damaging |
Het |
Atm |
T |
C |
9: 53,427,863 (GRCm39) |
T416A |
probably benign |
Het |
AW209491 |
A |
G |
13: 14,812,268 (GRCm39) |
T374A |
probably damaging |
Het |
Brcc3 |
T |
C |
X: 74,479,704 (GRCm39) |
|
probably benign |
Het |
Ccdc181 |
T |
G |
1: 164,107,514 (GRCm39) |
S66A |
probably benign |
Het |
Ccdc62 |
T |
C |
5: 124,092,320 (GRCm39) |
I435T |
probably benign |
Het |
Cdc14b |
C |
A |
13: 64,364,117 (GRCm39) |
|
probably benign |
Het |
Chst5 |
A |
G |
8: 112,617,477 (GRCm39) |
S48P |
probably damaging |
Het |
Ciita |
C |
A |
16: 10,326,577 (GRCm39) |
S253Y |
probably damaging |
Het |
Dock7 |
C |
T |
4: 98,877,533 (GRCm39) |
R1005H |
probably damaging |
Het |
Dsg4 |
A |
T |
18: 20,591,637 (GRCm39) |
I459F |
probably benign |
Het |
Enpep |
T |
C |
3: 129,103,506 (GRCm39) |
E361G |
probably damaging |
Het |
Fblim1 |
T |
C |
4: 141,310,422 (GRCm39) |
D280G |
probably benign |
Het |
Fignl1 |
G |
A |
11: 11,752,756 (GRCm39) |
R100* |
probably null |
Het |
Hdgfl1 |
A |
G |
13: 26,953,786 (GRCm39) |
S96P |
probably benign |
Het |
Iqgap2 |
G |
A |
13: 95,764,622 (GRCm39) |
L1541F |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,145,289 (GRCm39) |
E888G |
possibly damaging |
Het |
Kank4 |
T |
A |
4: 98,667,064 (GRCm39) |
Q461L |
probably benign |
Het |
Klhl20 |
C |
T |
1: 160,925,935 (GRCm39) |
V438M |
probably damaging |
Het |
Klrc3 |
A |
T |
6: 129,620,171 (GRCm39) |
S27R |
probably damaging |
Het |
Ksr2 |
T |
C |
5: 117,901,394 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
C |
T |
11: 103,389,938 (GRCm39) |
S1829N |
probably benign |
Het |
Obscn |
A |
G |
11: 58,945,611 (GRCm39) |
L4585P |
probably damaging |
Het |
Or5p57 |
T |
C |
7: 107,665,978 (GRCm39) |
N9S |
probably benign |
Het |
Palm3 |
T |
G |
8: 84,755,494 (GRCm39) |
S335R |
probably damaging |
Het |
Pcsk7 |
C |
T |
9: 45,830,560 (GRCm39) |
A446V |
possibly damaging |
Het |
Penk |
A |
G |
4: 4,134,065 (GRCm39) |
L194P |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,403,063 (GRCm39) |
F2255S |
probably damaging |
Het |
Plcd3 |
G |
A |
11: 102,968,653 (GRCm39) |
S31F |
probably damaging |
Het |
Pou2af2 |
A |
G |
9: 51,203,055 (GRCm39) |
L33P |
possibly damaging |
Het |
Ppp6r2 |
C |
T |
15: 89,159,680 (GRCm39) |
Q456* |
probably null |
Het |
Rbbp8nl |
T |
C |
2: 179,922,688 (GRCm39) |
D235G |
probably benign |
Het |
Ror1 |
T |
A |
4: 100,283,307 (GRCm39) |
N457K |
probably benign |
Het |
Rpgrip1l |
C |
A |
8: 91,951,972 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
T |
C |
5: 141,595,787 (GRCm39) |
F148L |
probably benign |
Het |
Slc45a2 |
A |
T |
15: 11,023,440 (GRCm39) |
H348L |
probably benign |
Het |
Smg8 |
C |
T |
11: 86,977,498 (GRCm39) |
A28T |
probably benign |
Het |
Snx14 |
A |
G |
9: 88,285,356 (GRCm39) |
I436T |
probably damaging |
Het |
Synj2 |
G |
A |
17: 6,080,035 (GRCm39) |
R1088H |
probably damaging |
Het |
Tubb6 |
T |
C |
18: 67,535,366 (GRCm39) |
Y422H |
probably damaging |
Het |
Unc13a |
T |
A |
8: 72,108,345 (GRCm39) |
I503F |
probably benign |
Het |
Unc13d |
A |
G |
11: 115,961,382 (GRCm39) |
|
probably benign |
Het |
Zp1 |
T |
C |
19: 10,896,871 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ggcx |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01657:Ggcx
|
APN |
6 |
72,406,941 (GRCm39) |
splice site |
probably null |
|
IGL02373:Ggcx
|
APN |
6 |
72,404,902 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02589:Ggcx
|
APN |
6 |
72,406,131 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02661:Ggcx
|
APN |
6 |
72,395,343 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02701:Ggcx
|
APN |
6 |
72,395,455 (GRCm39) |
intron |
probably benign |
|
R0503:Ggcx
|
UTSW |
6 |
72,406,140 (GRCm39) |
frame shift |
probably null |
|
R1034:Ggcx
|
UTSW |
6 |
72,391,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R2219:Ggcx
|
UTSW |
6 |
72,404,965 (GRCm39) |
missense |
probably benign |
0.29 |
R3892:Ggcx
|
UTSW |
6 |
72,395,355 (GRCm39) |
missense |
probably damaging |
0.99 |
R3951:Ggcx
|
UTSW |
6 |
72,403,541 (GRCm39) |
missense |
probably benign |
0.01 |
R3952:Ggcx
|
UTSW |
6 |
72,403,541 (GRCm39) |
missense |
probably benign |
0.01 |
R4320:Ggcx
|
UTSW |
6 |
72,405,803 (GRCm39) |
missense |
probably benign |
0.24 |
R4321:Ggcx
|
UTSW |
6 |
72,405,803 (GRCm39) |
missense |
probably benign |
0.24 |
R4322:Ggcx
|
UTSW |
6 |
72,405,803 (GRCm39) |
missense |
probably benign |
0.24 |
R4324:Ggcx
|
UTSW |
6 |
72,405,803 (GRCm39) |
missense |
probably benign |
0.24 |
R4782:Ggcx
|
UTSW |
6 |
72,405,875 (GRCm39) |
missense |
probably benign |
0.01 |
R5370:Ggcx
|
UTSW |
6 |
72,402,914 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5523:Ggcx
|
UTSW |
6 |
72,401,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R5902:Ggcx
|
UTSW |
6 |
72,406,979 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6126:Ggcx
|
UTSW |
6 |
72,394,966 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6199:Ggcx
|
UTSW |
6 |
72,407,122 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6223:Ggcx
|
UTSW |
6 |
72,406,588 (GRCm39) |
missense |
probably damaging |
0.97 |
R6515:Ggcx
|
UTSW |
6 |
72,402,815 (GRCm39) |
missense |
probably benign |
0.33 |
R7205:Ggcx
|
UTSW |
6 |
72,404,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R7923:Ggcx
|
UTSW |
6 |
72,404,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R8034:Ggcx
|
UTSW |
6 |
72,405,587 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8096:Ggcx
|
UTSW |
6 |
72,406,976 (GRCm39) |
missense |
probably benign |
0.33 |
R8116:Ggcx
|
UTSW |
6 |
72,406,511 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8356:Ggcx
|
UTSW |
6 |
72,406,574 (GRCm39) |
missense |
probably benign |
0.03 |
R8977:Ggcx
|
UTSW |
6 |
72,406,265 (GRCm39) |
critical splice donor site |
probably null |
|
R9074:Ggcx
|
UTSW |
6 |
72,402,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R9145:Ggcx
|
UTSW |
6 |
72,402,905 (GRCm39) |
missense |
probably benign |
0.18 |
R9285:Ggcx
|
UTSW |
6 |
72,395,402 (GRCm39) |
nonsense |
probably null |
|
R9362:Ggcx
|
UTSW |
6 |
72,405,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R9497:Ggcx
|
UTSW |
6 |
72,406,190 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ggcx
|
UTSW |
6 |
72,403,502 (GRCm39) |
missense |
probably benign |
0.19 |
|
Posted On |
2015-04-16 |