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)
|
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
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 |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |