Incidental Mutation 'R9285:Ggcx'
ID |
703856 |
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: 0.892)
|
Stock # |
R9285 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
72391291-72407695 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 72395402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 164
(Y164*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065906]
[ENSMUST00000205738]
|
AlphaFold |
Q9QYC7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000065906
AA Change: Y164*
|
SMART Domains |
Protein: ENSMUSP00000070109 Gene: ENSMUSG00000053460 AA Change: Y164*
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (49/49) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
G |
T |
6: 128,526,756 (GRCm39) |
T1085K |
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,654,989 (GRCm39) |
I1000F |
probably damaging |
Het |
Atp2c2 |
A |
G |
8: 120,465,141 (GRCm39) |
M308V |
probably benign |
Het |
Chd3 |
G |
T |
11: 69,249,954 (GRCm39) |
R736S |
possibly damaging |
Het |
Chst9 |
T |
A |
18: 15,586,017 (GRCm39) |
H182L |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,452,746 (GRCm39) |
F2112S |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 15,956,088 (GRCm39) |
L3373H |
probably damaging |
Het |
Ctsll3 |
T |
A |
13: 60,946,402 (GRCm39) |
D303V |
probably benign |
Het |
Cyp7b1 |
T |
A |
3: 18,151,564 (GRCm39) |
K216N |
probably damaging |
Het |
Dock9 |
A |
C |
14: 121,833,012 (GRCm39) |
F1315V |
probably benign |
Het |
Eme2 |
T |
C |
17: 25,108,132 (GRCm39) |
|
probably benign |
Het |
Eml2 |
A |
G |
7: 18,925,568 (GRCm39) |
I222M |
probably damaging |
Het |
Gm20939 |
T |
C |
17: 95,184,188 (GRCm39) |
F279L |
probably damaging |
Het |
Gm44511 |
T |
C |
6: 128,777,017 (GRCm39) |
|
probably benign |
Het |
Gprin1 |
A |
G |
13: 54,886,523 (GRCm39) |
S584P |
probably damaging |
Het |
Ighv2-2 |
A |
T |
12: 113,551,903 (GRCm39) |
Y112N |
probably damaging |
Het |
Kansl3 |
T |
C |
1: 36,383,148 (GRCm39) |
|
probably benign |
Het |
Kcnu1 |
T |
A |
8: 26,381,611 (GRCm39) |
I449K |
probably damaging |
Het |
Lima1 |
T |
C |
15: 99,678,687 (GRCm39) |
R585G |
probably damaging |
Het |
Lrrk2 |
T |
A |
15: 91,662,686 (GRCm39) |
V1905E |
probably damaging |
Het |
Map3k6 |
T |
A |
4: 132,972,870 (GRCm39) |
V343E |
probably damaging |
Het |
Mei1 |
T |
C |
15: 81,985,170 (GRCm39) |
F279S |
|
Het |
Mgat3 |
A |
G |
15: 80,096,538 (GRCm39) |
D455G |
probably damaging |
Het |
Mycbp2 |
T |
A |
14: 103,434,753 (GRCm39) |
Q2230L |
probably damaging |
Het |
Myog |
T |
C |
1: 134,218,895 (GRCm39) |
F179S |
possibly damaging |
Het |
Nlrc5 |
A |
C |
8: 95,199,604 (GRCm39) |
I72L |
probably damaging |
Het |
Or2ag1 |
T |
C |
7: 106,472,715 (GRCm39) |
T246A |
probably benign |
Het |
Or4k2 |
A |
C |
14: 50,424,122 (GRCm39) |
V185G |
probably benign |
Het |
Or4s2b |
T |
A |
2: 88,508,680 (GRCm39) |
H153Q |
probably damaging |
Het |
Or5k15 |
T |
A |
16: 58,710,569 (GRCm39) |
K5* |
probably null |
Het |
Or5p5 |
C |
T |
7: 107,413,821 (GRCm39) |
T10I |
probably damaging |
Het |
Pcdh18 |
A |
G |
3: 49,707,786 (GRCm39) |
L895P |
probably damaging |
Het |
Pibf1 |
C |
T |
14: 99,480,345 (GRCm39) |
T707M |
probably benign |
Het |
Ptk2b |
A |
T |
14: 66,410,844 (GRCm39) |
Y418N |
possibly damaging |
Het |
Ptx4 |
T |
G |
17: 25,343,930 (GRCm39) |
Y393* |
probably null |
Het |
Sass6 |
C |
A |
3: 116,422,354 (GRCm39) |
|
probably benign |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Spatc1l |
T |
C |
10: 76,398,264 (GRCm39) |
V22A |
probably damaging |
Het |
Strc |
T |
C |
2: 121,195,279 (GRCm39) |
E1668G |
probably damaging |
Het |
Sulf2 |
T |
A |
2: 165,935,435 (GRCm39) |
H226L |
probably damaging |
Het |
Sun5 |
T |
C |
2: 153,709,426 (GRCm39) |
|
probably benign |
Het |
Svep1 |
C |
T |
4: 58,084,809 (GRCm39) |
|
probably null |
Het |
Tektl1 |
C |
A |
10: 78,588,234 (GRCm39) |
|
probably benign |
Het |
Xylt2 |
A |
T |
11: 94,558,536 (GRCm39) |
I540N |
probably benign |
Het |
Zfp804b |
T |
C |
5: 6,820,723 (GRCm39) |
N780S |
probably benign |
Het |
Zfp983 |
T |
A |
17: 21,876,520 (GRCm39) |
M8K |
possibly 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 |
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 |
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'- TTTCAGTCCCAGGGAAGCTG -3'
(R):5'- AGGACCTCATAACTCTACTTTGC -3'
Sequencing Primer
(F):5'- AGGGAAGCTGGGCCTGTG -3'
(R):5'- ATGTCTACTGAGCCAGCATG -3'
|
Posted On |
2022-03-25 |