Incidental Mutation 'R4322:Ggcx'
ID |
323869 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ggcx
|
Ensembl Gene |
ENSMUSG00000053460 |
Gene Name |
gamma-glutamyl carboxylase |
Synonyms |
vitamin K-dependent carboxylase |
MMRRC Submission |
041093-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.906)
|
Stock # |
R4322 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
72391291-72407695 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72405803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 545
(S545G)
|
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 benign
Transcript: ENSMUST00000065906
AA Change: S545G
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000070109 Gene: ENSMUSG00000053460 AA Change: S545G
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: ENSMUST00000205335
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205738
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205823
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207000
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207012
|
Meta Mutation Damage Score |
0.0985 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
94% (48/51) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt2 |
G |
A |
4: 154,751,701 (GRCm39) |
A145V |
probably damaging |
Het |
Allc |
C |
A |
12: 28,604,023 (GRCm39) |
L353F |
probably benign |
Het |
Alx3 |
C |
T |
3: 107,502,691 (GRCm39) |
P67L |
probably benign |
Het |
Arhgef10l |
C |
A |
4: 140,270,037 (GRCm39) |
G882V |
probably benign |
Het |
Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
Bdp1 |
T |
A |
13: 100,228,731 (GRCm39) |
N299I |
probably damaging |
Het |
Ccdc80 |
G |
T |
16: 44,915,951 (GRCm39) |
V236L |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,881,534 (GRCm39) |
I1085L |
probably benign |
Het |
Csn2 |
C |
T |
5: 87,845,886 (GRCm39) |
|
probably null |
Het |
Dnajb14 |
G |
A |
3: 137,591,060 (GRCm39) |
G54S |
probably damaging |
Het |
Fyb1 |
T |
A |
15: 6,610,300 (GRCm39) |
L291Q |
possibly damaging |
Het |
Gm12250 |
G |
A |
11: 58,079,126 (GRCm39) |
|
noncoding transcript |
Het |
Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Kng1 |
A |
C |
16: 22,898,270 (GRCm39) |
M557L |
probably benign |
Het |
Lilrb4a |
T |
C |
10: 51,367,707 (GRCm39) |
F83S |
probably damaging |
Het |
Lmcd1 |
A |
G |
6: 112,292,724 (GRCm39) |
E192G |
possibly damaging |
Het |
Lrp2 |
C |
A |
2: 69,256,335 (GRCm39) |
E4602* |
probably null |
Het |
Mc4r |
T |
C |
18: 66,992,121 (GRCm39) |
R331G |
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,954,306 (GRCm39) |
D393G |
possibly damaging |
Het |
Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
Or4c10b |
A |
G |
2: 89,712,078 (GRCm39) |
K303E |
probably benign |
Het |
Or5p69 |
C |
T |
7: 107,967,555 (GRCm39) |
P286L |
probably damaging |
Het |
Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
Pot1a |
T |
C |
6: 25,745,929 (GRCm39) |
T591A |
probably benign |
Het |
Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sh3rf2 |
A |
T |
18: 42,244,464 (GRCm39) |
H310L |
probably damaging |
Het |
Shld2 |
G |
T |
14: 33,981,632 (GRCm39) |
T502K |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,705,711 (GRCm39) |
K238E |
probably damaging |
Het |
Ssc5d |
C |
T |
7: 4,931,449 (GRCm39) |
R219C |
probably damaging |
Het |
Them5 |
C |
A |
3: 94,253,463 (GRCm39) |
H158N |
probably damaging |
Het |
Vmn1r203 |
A |
T |
13: 22,708,408 (GRCm39) |
N63I |
probably damaging |
Het |
Vps41 |
T |
A |
13: 19,007,960 (GRCm39) |
F264L |
probably damaging |
Het |
Vtn |
A |
T |
11: 78,390,916 (GRCm39) |
|
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 |
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 |
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'- TTTCCCTGGTATGGAGGAAGGC -3'
(R):5'- AACGGCCTCTGGAATCACAG -3'
Sequencing Primer
(F):5'- AGGCCAGGGGAGATTTTGC -3'
(R):5'- GGAATCACAGCTTCTCCTAAATTTC -3'
|
Posted On |
2015-06-24 |