Mutagenetix > Incidental Mutation

Incidental Mutation 'R9497:Ggcx'

717279

Institutional Source

Beutler Lab

Gene Symbol

Ggcx

Ensembl Gene

ENSMUSG00000053460

Gene Name

gamma-glutamyl carboxylase

Synonyms

vitamin K-dependent carboxylase

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R9497 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72391291-72407695 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72406190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 605 (N605K)

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: N605K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070109
Gene: ENSMUSG00000053460
AA Change: N605K

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

unknown
Transcript: ENSMUST00000205738
AA Change: T110K

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	A	C	1: 85,973,893 (GRCm39)	E70A	possibly damaging	Het
Abcb5	C	A	12: 118,899,850 (GRCm39)	Q272H	probably damaging	Het
Acoxl	T	C	2: 127,719,706 (GRCm39)	Y156H	probably damaging	Het
Alg9	T	C	9: 50,711,436 (GRCm39)	F305L	probably damaging	Het
Apobec4	T	C	1: 152,632,947 (GRCm39)	V325A	probably benign	Het
Aqp9	T	G	9: 71,069,651 (GRCm39)	D46A	probably benign	Het
Atp13a4	T	A	16: 29,288,130 (GRCm39)		probably null	Het
BC051019	A	G	7: 109,315,466 (GRCm39)	F263S	probably damaging	Het
Bicc1	A	T	10: 70,776,828 (GRCm39)		probably null	Het
Birc2	G	A	9: 7,861,028 (GRCm39)	Q97*	probably null	Het
Capn13	G	T	17: 73,633,362 (GRCm39)	T533N	probably benign	Het
Casp6	G	A	3: 129,699,559 (GRCm39)	V13M	probably benign	Het
Cdh10	A	T	15: 18,964,267 (GRCm39)	E143V	probably damaging	Het
Cobl	T	A	11: 12,203,501 (GRCm39)	Q1067L	probably benign	Het
Cr2	A	G	1: 194,850,743 (GRCm39)	V241A	probably damaging	Het
Cyp2c23	C	T	19: 44,010,085 (GRCm39)	V87M	probably damaging	Het
Cyp2j9	G	A	4: 96,460,211 (GRCm39)	Q431*	probably null	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Cyp4a12b	A	T	4: 115,271,768 (GRCm39)	M160L	probably benign	Het
Ddhd2	T	A	8: 26,217,731 (GRCm39)	K715N	possibly damaging	Het
Ecscr	T	C	18: 35,851,436 (GRCm39)	Y32C	probably damaging	Het
Ednra	A	T	8: 78,446,934 (GRCm39)	L48Q	probably benign	Het
Eya4	C	T	10: 22,987,458 (GRCm39)		probably null	Het
F13a1	C	A	13: 37,082,118 (GRCm39)	V529L	probably benign	Het
Fam151b	A	T	13: 92,610,621 (GRCm39)	I56K	probably damaging	Het
Fat3	A	G	9: 15,903,504 (GRCm39)	I2997T	probably damaging	Het
Fgfr2	A	T	7: 129,765,763 (GRCm39)	F817I	probably damaging	Het
Fras1	G	T	5: 96,884,895 (GRCm39)	C2591F	probably damaging	Het
Fryl	T	C	5: 73,215,134 (GRCm39)	D2214G		Het
Galntl6	A	T	8: 58,290,410 (GRCm39)	D394E	probably damaging	Het
Gja5	A	G	3: 96,958,801 (GRCm39)	N286S		Het
Gm4553	A	T	7: 141,719,298 (GRCm39)	C43*	probably null	Het
Gpr158	T	C	2: 21,831,825 (GRCm39)	V975A	probably benign	Het
Greb1l	T	A	18: 10,458,600 (GRCm39)	D60E	probably benign	Het
Hao2	A	T	3: 98,784,462 (GRCm39)	L301H	probably damaging	Het
Hic1	A	G	11: 75,060,131 (GRCm39)	L72P	possibly damaging	Het
Hs3st5	A	C	10: 36,709,370 (GRCm39)	N302H	probably benign	Het
Htr1d	A	G	4: 136,169,663 (GRCm39)		probably benign	Het
Inka1	A	G	9: 107,861,938 (GRCm39)	V128A	probably benign	Het
Kdm7a	T	C	6: 39,128,253 (GRCm39)	D526G	probably damaging	Het
Kif5a	T	C	10: 127,079,353 (GRCm39)	S282G	probably damaging	Het
Klhdc7b	T	C	15: 89,272,463 (GRCm39)	V457A	possibly damaging	Het
Lcorl	A	G	5: 45,891,339 (GRCm39)	V421A	probably benign	Het
Ltc4s	A	G	11: 50,127,386 (GRCm39)	S150P	unknown	Het
Mdfic	C	T	6: 15,720,852 (GRCm39)	R18W	unknown	Het
Mdfic	T	G	6: 15,770,508 (GRCm39)	D171E	probably benign	Het
Meis2	T	C	2: 115,694,724 (GRCm39)	D473G	possibly damaging	Het
Mettl17	A	T	14: 52,129,029 (GRCm39)	Q433L	unknown	Het
Mettl25	T	C	10: 105,677,090 (GRCm39)	R31G	probably damaging	Het
Mroh2b	T	A	15: 4,950,845 (GRCm39)	I581N	probably damaging	Het
Myh7	A	T	14: 55,217,841 (GRCm39)	N1091K	probably benign	Het
Mysm1	T	C	4: 94,848,635 (GRCm39)	D466G	probably benign	Het
Ncoa6	T	C	2: 155,248,238 (GRCm39)	T1689A	probably damaging	Het
Ndfip2	A	G	14: 105,542,245 (GRCm39)	T332A	probably benign	Het
Nfkbil1	G	A	17: 35,439,605 (GRCm39)	P303S	probably damaging	Het
Nfx1	T	G	4: 40,994,104 (GRCm39)	N604K	probably benign	Het
Npb	T	C	11: 120,499,473 (GRCm39)	F47L	probably benign	Het
Nr2c2	C	T	6: 92,133,673 (GRCm39)	T259I	possibly damaging	Het
Nt5el	G	T	13: 105,236,987 (GRCm39)	L79F	probably damaging	Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Or10al5	T	A	17: 38,062,942 (GRCm39)	Y66N	probably damaging	Het
Or10b1	A	G	10: 78,355,738 (GRCm39)	I99V	probably benign	Het
Or10g6	A	T	9: 39,934,616 (GRCm39)	H309L	probably benign	Het
Or4d5	G	A	9: 40,011,935 (GRCm39)	P284S	probably damaging	Het
Or4n4b	C	T	14: 50,536,362 (GRCm39)	V135I	probably benign	Het
Or6c202	C	A	10: 128,996,464 (GRCm39)	V130L	probably benign	Het
Or6f1	G	A	7: 85,970,989 (GRCm39)	T57M	probably damaging	Het
Pdcd6	A	T	13: 74,453,695 (GRCm39)	F148I	probably damaging	Het
Pih1d1	A	T	7: 44,803,789 (GRCm39)	Q16L	unknown	Het
Ppp1r10	T	C	17: 36,235,786 (GRCm39)	S123P	probably damaging	Het
Ppp1r13b	A	T	12: 111,807,446 (GRCm39)	M305K	probably benign	Het
Prg2	A	G	2: 84,811,685 (GRCm39)	K2E	possibly damaging	Het
Prkd1	A	T	12: 50,438,107 (GRCm39)		probably null	Het
Rfx7	T	A	9: 72,526,423 (GRCm39)	H1204Q	probably benign	Het
Serpina3k	A	C	12: 104,309,430 (GRCm39)	Q291H	probably benign	Het
Tafa4	T	A	6: 96,820,831 (GRCm39)	I93F	possibly damaging	Het
Tas2r107	G	T	6: 131,636,549 (GRCm39)	Q167K	probably benign	Het
Tle1	A	C	4: 72,071,135 (GRCm39)		probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Trpa1	C	T	1: 14,989,026 (GRCm39)	E12K	probably benign	Het
Vmn2r7	T	C	3: 64,614,474 (GRCm39)	T447A	probably benign	Het
Wdr86	T	C	5: 24,920,538 (GRCm39)	Y283C	probably benign	Het
Zfp329	A	T	7: 12,544,215 (GRCm39)	Y436*	probably null	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
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
Z1177:Ggcx	UTSW	6	72,403,502 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- ATTCCAGAGGCCGTTGTCAG -3'
(R):5'- ATCCGATGAGAAGGCCCATTC -3'

Sequencing Primer
(F):5'- GTTGTCAGACTCCCAACGC -3'
(R):5'- CGATGAGAAGGCCCATTCTCATTTAG -3'

Posted On

2022-07-18