Incidental Mutation 'IGL02589:Ggcx'
ID |
299666 |
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: 0.906)
|
Stock # |
IGL02589
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
72391291-72407695 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72406131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 586
(Y586H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059472]
[ENSMUST00000065906]
[ENSMUST00000205335]
[ENSMUST00000205738]
[ENSMUST00000205823]
|
AlphaFold |
Q9QYC7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059472
|
SMART Domains |
Protein: ENSMUSP00000087118 Gene: ENSMUSG00000053907
Domain | Start | End | E-Value | Type |
Pfam:S-AdoMet_synt_N
|
17 |
115 |
1.7e-45 |
PFAM |
Pfam:S-AdoMet_synt_M
|
129 |
250 |
2.4e-47 |
PFAM |
Pfam:S-AdoMet_synt_C
|
252 |
389 |
1.5e-68 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065906
AA Change: Y586H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000070109 Gene: ENSMUSG00000053460 AA Change: Y586H
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: ENSMUST00000205335
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205738
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205823
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206904
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207000
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
G |
6: 128,558,463 (GRCm39) |
I5L |
probably benign |
Het |
Ang6 |
A |
G |
14: 44,239,419 (GRCm39) |
I103T |
possibly damaging |
Het |
Arhgdib |
A |
G |
6: 136,910,576 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
C |
T |
4: 140,733,722 (GRCm39) |
T1037M |
probably damaging |
Het |
Bptf |
T |
C |
11: 107,002,357 (GRCm39) |
N252D |
possibly damaging |
Het |
Capn2 |
T |
C |
1: 182,311,913 (GRCm39) |
Y387C |
probably damaging |
Het |
Cdc27 |
T |
G |
11: 104,396,470 (GRCm39) |
D817A |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cntnap3 |
T |
G |
13: 64,940,244 (GRCm39) |
I318L |
probably benign |
Het |
Cog6 |
A |
T |
3: 52,914,691 (GRCm39) |
L255Q |
probably damaging |
Het |
Ect2l |
T |
A |
10: 18,016,342 (GRCm39) |
|
probably benign |
Het |
Ercc5 |
T |
C |
1: 44,203,209 (GRCm39) |
V282A |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,917,372 (GRCm39) |
D3464G |
probably damaging |
Het |
Gabrg1 |
A |
T |
5: 70,999,495 (GRCm39) |
L18* |
probably null |
Het |
Gm5796 |
A |
T |
14: 15,379,030 (GRCm39) |
K24* |
probably null |
Het |
Gnb4 |
C |
T |
3: 32,643,998 (GRCm39) |
V187M |
probably damaging |
Het |
Gpt2 |
C |
T |
8: 86,242,795 (GRCm39) |
Q276* |
probably null |
Het |
Idnk |
G |
T |
13: 58,311,239 (GRCm39) |
|
probably benign |
Het |
Igkv3-9 |
A |
G |
6: 70,565,683 (GRCm39) |
D94G |
possibly damaging |
Het |
Ipo8 |
C |
A |
6: 148,711,405 (GRCm39) |
L294F |
probably damaging |
Het |
Itgad |
A |
T |
7: 127,780,883 (GRCm39) |
D157V |
probably damaging |
Het |
Kcnab3 |
A |
T |
11: 69,222,928 (GRCm39) |
I392L |
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,945,471 (GRCm39) |
S761G |
possibly damaging |
Het |
Kif21a |
G |
A |
15: 90,869,489 (GRCm39) |
T454M |
probably damaging |
Het |
Lta4h |
A |
G |
10: 93,310,793 (GRCm39) |
N441S |
probably benign |
Het |
Man2a1 |
A |
G |
17: 64,986,773 (GRCm39) |
E595G |
probably benign |
Het |
Micos13 |
T |
C |
17: 56,915,856 (GRCm39) |
E66G |
probably benign |
Het |
Mvd |
T |
C |
8: 123,164,773 (GRCm39) |
|
probably benign |
Het |
Notch2 |
A |
G |
3: 98,011,663 (GRCm39) |
|
probably null |
Het |
Phf20l1 |
G |
T |
15: 66,487,481 (GRCm39) |
|
probably benign |
Het |
Rdm1 |
A |
G |
11: 101,518,831 (GRCm39) |
S13G |
possibly damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Scn4a |
G |
T |
11: 106,218,958 (GRCm39) |
D953E |
probably benign |
Het |
Sh2b1 |
A |
G |
7: 126,068,440 (GRCm39) |
I457T |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tagap |
C |
A |
17: 8,152,504 (GRCm39) |
T563K |
possibly damaging |
Het |
Ugt1a7c |
T |
C |
1: 88,023,360 (GRCm39) |
I173T |
probably benign |
Het |
Unc79 |
C |
T |
12: 103,139,755 (GRCm39) |
A2370V |
probably damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,901,480 (GRCm39) |
C536S |
probably damaging |
Het |
Vmn2r53 |
G |
A |
7: 12,315,872 (GRCm39) |
T649I |
possibly damaging |
Het |
Whrn |
G |
A |
4: 63,336,334 (GRCm39) |
Q301* |
probably null |
Het |
Zfp1007 |
T |
A |
5: 109,826,386 (GRCm39) |
H62L |
possibly damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
IGL02634:Ggcx
|
APN |
6 |
72,395,286 (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 |