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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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