Incidental Mutation 'R3951:Ggcx'
ID |
307933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ggcx
|
Ensembl Gene |
ENSMUSG00000053460 |
Gene Name |
gamma-glutamyl carboxylase |
Synonyms |
vitamin K-dependent carboxylase |
MMRRC Submission |
040828-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.892)
|
Stock # |
R3951 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
72391291-72407695 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 72403541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 363
(G363R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065906]
[ENSMUST00000205738]
|
AlphaFold |
Q9QYC7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065906
AA Change: G363R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000070109 Gene: ENSMUSG00000053460 AA Change: G363R
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: ENSMUST00000207000
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207012
|
Meta Mutation Damage Score |
0.1159 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (55/55) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
C |
10: 100,451,158 (GRCm39) |
|
probably benign |
Het |
4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
Akr1c18 |
C |
T |
13: 4,185,284 (GRCm39) |
V283I |
probably benign |
Het |
Atp2b2 |
T |
A |
6: 113,737,792 (GRCm39) |
M861L |
possibly damaging |
Het |
Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
Clspn |
A |
G |
4: 126,470,172 (GRCm39) |
E814G |
probably damaging |
Het |
Csgalnact1 |
T |
C |
8: 68,913,914 (GRCm39) |
Q97R |
probably benign |
Het |
Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
Ect2 |
A |
T |
3: 27,184,269 (GRCm39) |
D517E |
probably benign |
Het |
Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,187,208 (GRCm39) |
T1213A |
probably benign |
Het |
Fkbp8 |
T |
A |
8: 70,985,311 (GRCm39) |
L275Q |
probably damaging |
Het |
Gabrb2 |
A |
G |
11: 42,517,708 (GRCm39) |
Y510C |
probably damaging |
Het |
Gda |
T |
C |
19: 21,449,809 (GRCm39) |
T16A |
probably benign |
Het |
Gm527 |
T |
G |
12: 64,970,276 (GRCm39) |
|
probably benign |
Het |
Hoxb2 |
A |
G |
11: 96,244,001 (GRCm39) |
E204G |
probably damaging |
Het |
Hsd17b11 |
G |
A |
5: 104,140,803 (GRCm39) |
|
probably benign |
Het |
Kat14 |
T |
C |
2: 144,249,249 (GRCm39) |
|
probably benign |
Het |
Kif16b |
C |
T |
2: 142,549,279 (GRCm39) |
V1079I |
probably benign |
Het |
Klhl29 |
T |
A |
12: 5,190,660 (GRCm39) |
S112C |
probably damaging |
Het |
Lpcat2 |
G |
T |
8: 93,591,531 (GRCm39) |
M58I |
probably benign |
Het |
Lrrc8d |
G |
T |
5: 105,962,142 (GRCm39) |
V851F |
probably benign |
Het |
Ltbp3 |
T |
C |
19: 5,806,029 (GRCm39) |
V929A |
probably damaging |
Het |
Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
Map3k9 |
T |
C |
12: 81,769,295 (GRCm39) |
M941V |
probably benign |
Het |
Myom2 |
A |
T |
8: 15,134,556 (GRCm39) |
Y453F |
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,163,747 (GRCm39) |
K78E |
probably damaging |
Het |
Ncor2 |
G |
T |
5: 125,109,320 (GRCm39) |
D1496E |
possibly damaging |
Het |
Ndnf |
T |
C |
6: 65,680,125 (GRCm39) |
Y135H |
possibly damaging |
Het |
Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
Nmur2 |
G |
C |
11: 55,931,051 (GRCm39) |
P220R |
probably damaging |
Het |
Nsd1 |
G |
C |
13: 55,416,267 (GRCm39) |
E1438Q |
probably benign |
Het |
Or5al7 |
G |
T |
2: 85,992,962 (GRCm39) |
C110* |
probably null |
Het |
Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
Or8g2 |
A |
T |
9: 39,822,021 (GRCm39) |
R307S |
probably benign |
Het |
Or9s23 |
T |
A |
1: 92,501,511 (GRCm39) |
M206K |
possibly damaging |
Het |
Pom121l2 |
T |
G |
13: 22,166,298 (GRCm39) |
S190A |
probably damaging |
Het |
Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
Scarb1 |
A |
C |
5: 125,364,475 (GRCm39) |
C85G |
probably damaging |
Het |
Sh2d4b |
A |
G |
14: 40,594,503 (GRCm39) |
I159T |
probably damaging |
Het |
Skic3 |
T |
G |
13: 76,278,338 (GRCm39) |
L551V |
probably damaging |
Het |
Sntg1 |
C |
T |
1: 8,853,125 (GRCm39) |
|
probably benign |
Het |
Sos1 |
G |
A |
17: 80,731,610 (GRCm39) |
T630I |
probably damaging |
Het |
Spata7 |
T |
A |
12: 98,635,732 (GRCm39) |
D517E |
probably damaging |
Het |
Tcaf1 |
T |
C |
6: 42,655,993 (GRCm39) |
T328A |
probably benign |
Het |
Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
Trpc2 |
T |
A |
7: 101,742,781 (GRCm39) |
M597K |
probably damaging |
Het |
Tubb3 |
C |
A |
8: 124,148,003 (GRCm39) |
T312N |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,120,405 (GRCm39) |
V277M |
probably damaging |
Het |
Uhrf2 |
G |
A |
19: 30,057,261 (GRCm39) |
R473Q |
probably damaging |
Het |
Vmn2r43 |
T |
A |
7: 8,258,319 (GRCm39) |
H298L |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTTTCCCTATGTCATGCTGG -3'
(R):5'- GCACACAGCATTGGTTTAGTG -3'
Sequencing Primer
(F):5'- GCCAGCAGCCCTCTCTTCTG -3'
(R):5'- ATTGGTTTAGTGCTTCTCTACCAAG -3'
|
Posted On |
2015-04-17 |