Incidental Mutation 'R6126:Ggcx'
ID 487390
Institutional Source Beutler Lab
Gene Symbol Ggcx
Ensembl Gene ENSMUSG00000053460
Gene Name gamma-glutamyl carboxylase
Synonyms vitamin K-dependent carboxylase
MMRRC Submission 044273-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.892) question?
Stock # R6126 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 72391291-72407695 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72394966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 115 (M115L)
Ref Sequence ENSEMBL: ENSMUSP00000070109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065906] [ENSMUST00000205738]
AlphaFold Q9QYC7
Predicted Effect possibly damaging
Transcript: ENSMUST00000065906
AA Change: M115L

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070109
Gene: ENSMUSG00000053460
AA Change: M115L

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 unknown
Transcript: ENSMUST00000132995
AA Change: M26L
Predicted Effect probably benign
Transcript: ENSMUST00000205738
Predicted Effect unknown
Transcript: ENSMUST00000207012
AA Change: I43F
Meta Mutation Damage Score 0.2774 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 93% (51/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 89,963,881 (GRCm39) R111H probably damaging Het
Alk G A 17: 72,182,037 (GRCm39) L1329F possibly damaging Het
Apoh A T 11: 108,288,199 (GRCm39) I106F probably damaging Het
Atp8a2 C T 14: 60,281,775 (GRCm39) M126I probably benign Het
Cactin G A 10: 81,160,143 (GRCm39) R412H possibly damaging Het
Chd7 T C 4: 8,826,482 (GRCm39) S949P probably damaging Het
Clec11a C T 7: 43,954,345 (GRCm39) A203T probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dst T A 1: 34,267,264 (GRCm39) I5080K probably damaging Het
Ecd T C 14: 20,388,493 (GRCm39) probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fan1 T A 7: 64,014,318 (GRCm39) K638* probably null Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Fig4 A G 10: 41,141,443 (GRCm39) I272T probably damaging Het
Foxd2 C A 4: 114,765,702 (GRCm39) G106V unknown Het
Gm21976 G A 13: 98,423,821 (GRCm39) R72H unknown Het
Hsf2 T C 10: 57,372,013 (GRCm39) V38A probably damaging Het
Ifi208 A G 1: 173,505,274 (GRCm39) Y8C possibly damaging Het
Il31ra A C 13: 112,666,908 (GRCm39) L390R probably damaging Het
Kif1a A T 1: 92,947,621 (GRCm39) Y1614N probably damaging Het
Mef2b C A 8: 70,619,526 (GRCm39) T267K probably benign Het
Mfsd8 A G 3: 40,786,446 (GRCm39) probably null Het
Mnx1 G T 5: 29,683,110 (GRCm39) A55E possibly damaging Het
Muc5ac A T 7: 141,354,969 (GRCm39) I949F possibly damaging Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Ntpcr G A 8: 126,462,626 (GRCm39) probably null Het
Or12j3 T G 7: 139,953,166 (GRCm39) Y119S probably damaging Het
Otx1 T C 11: 21,946,457 (GRCm39) probably benign Het
Panx1 T A 9: 14,919,086 (GRCm39) I258F probably benign Het
Pask T C 1: 93,242,081 (GRCm39) Y1212C probably damaging Het
Pdgfra A G 5: 75,331,190 (GRCm39) K265R probably benign Het
Phf20l1 A G 15: 66,508,673 (GRCm39) H844R probably benign Het
Ppp6r1 T C 7: 4,646,376 (GRCm39) T136A possibly damaging Het
Rab35 A G 5: 115,783,767 (GRCm39) N185D probably benign Het
Rdh1 A T 10: 127,599,083 (GRCm39) D188V probably damaging Het
Rimbp3 A T 16: 17,030,140 (GRCm39) D1188V probably benign Het
Robo2 C T 16: 73,717,570 (GRCm39) G100S probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ryr1 A C 7: 28,775,664 (GRCm39) D2282E probably null Het
Ryr3 A G 2: 112,588,015 (GRCm39) L2642P probably damaging Het
Sez6 A T 11: 77,864,630 (GRCm39) Y530F probably damaging Het
Slc12a2 A G 18: 58,077,116 (GRCm39) Y1205C possibly damaging Het
Slc4a5 A T 6: 83,203,247 (GRCm39) H49L probably benign Het
Smchd1 A T 17: 71,677,280 (GRCm39) V1503D probably damaging Het
Spata31e3 G T 13: 50,400,326 (GRCm39) Q667K probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Tex15 A G 8: 34,063,591 (GRCm39) N1007S probably benign Het
Tpk1 A T 6: 43,400,594 (GRCm39) C143S probably damaging Het
Wdr20 A T 12: 110,760,536 (GRCm39) H474L probably benign Het
Wnk4 A G 11: 101,167,174 (GRCm39) probably benign Het
Zfp292 T C 4: 34,808,497 (GRCm39) T1516A probably benign Het
Zfp462 G A 4: 55,023,573 (GRCm39) A2121T probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TAGAGCTGTGTCTTGCTTCC -3'
(R):5'- TCAGGCAGAGAGCTACATGG -3'

Sequencing Primer
(F):5'- TTCCTCGGTGGCTGCCTG -3'
(R):5'- GGTCATGACGACTCATATGATACAC -3'
Posted On 2017-10-10