Incidental Mutation 'R8356:Ggcx'
| ID |
660329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggcx
|
| Ensembl Gene |
ENSMUSG00000053460 |
| Gene Name |
gamma-glutamyl carboxylase |
| Synonyms |
vitamin K-dependent carboxylase |
| MMRRC Submission |
067870-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.892)
|
| Stock # |
R8356 (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 G
at 72406574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 679
(E679G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059472]
[ENSMUST00000065906]
[ENSMUST00000205335]
[ENSMUST00000205738]
[ENSMUST00000205823]
[ENSMUST00000206692]
|
| 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: E679G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000070109
Gene: ENSMUSG00000053460
AA Change: E679G
| 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 |
probably benign
Transcript: ENSMUST00000205738
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205823
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206692
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206904
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207000
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207012
|
| Meta Mutation Damage Score |
0.1514 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
A |
5: 113,861,868 (GRCm39) |
M1L |
unknown |
Het |
| Abcc9 |
A |
T |
6: 142,536,096 (GRCm39) |
M1546K |
probably benign |
Het |
| Acbd3 |
T |
C |
1: 180,553,881 (GRCm39) |
M72T |
probably benign |
Het |
| Adam6a |
T |
G |
12: 113,509,757 (GRCm39) |
L710R |
probably benign |
Het |
| Aldh4a1 |
T |
C |
4: 139,365,833 (GRCm39) |
S275P |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,568,737 (GRCm39) |
L47Q |
probably damaging |
Het |
| Arhgap19 |
G |
A |
19: 41,762,615 (GRCm39) |
R414C |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,526,003 (GRCm39) |
S572P |
probably benign |
Het |
| Cdk10 |
G |
A |
8: 123,955,096 (GRCm39) |
R78H |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,320,847 (GRCm39) |
R655H |
possibly damaging |
Het |
| Cntnap2 |
T |
A |
6: 47,026,307 (GRCm39) |
H44Q |
probably benign |
Het |
| Cpped1 |
A |
T |
16: 11,712,793 (GRCm39) |
C32* |
probably null |
Het |
| Ddi1 |
A |
G |
9: 6,266,249 (GRCm39) |
V40A |
probably benign |
Het |
| Ddx50 |
T |
C |
10: 62,457,287 (GRCm39) |
T588A |
probably benign |
Het |
| Degs2 |
A |
G |
12: 108,658,223 (GRCm39) |
I252T |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,994,972 (GRCm39) |
V2762I |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,444,313 (GRCm39) |
D4037G |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,444,469 (GRCm39) |
A4089V |
probably null |
Het |
| Dthd1 |
A |
T |
5: 63,007,081 (GRCm39) |
D594V |
probably damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,742,781 (GRCm39) |
M466K |
probably benign |
Het |
| Erich2 |
A |
T |
2: 70,357,873 (GRCm39) |
|
probably null |
Het |
| Fam221b |
T |
C |
4: 43,665,519 (GRCm39) |
D313G |
probably benign |
Het |
| Fbxl22 |
T |
C |
9: 66,421,732 (GRCm39) |
D35G |
possibly damaging |
Het |
| Gm14295 |
A |
G |
2: 176,501,307 (GRCm39) |
T266A |
probably benign |
Het |
| Hnrnpa1 |
A |
G |
15: 103,150,529 (GRCm39) |
D160G |
probably null |
Het |
| Hnrnpul1 |
T |
C |
7: 25,422,247 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,259,756 (GRCm39) |
E2576G |
possibly damaging |
Het |
| Ifit2 |
T |
A |
19: 34,550,908 (GRCm39) |
C149* |
probably null |
Het |
| Il18rap |
T |
A |
1: 40,564,084 (GRCm39) |
S67R |
probably benign |
Het |
| Kcnk4 |
T |
G |
19: 6,903,668 (GRCm39) |
S294R |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,100,683 (GRCm39) |
H1588R |
probably damaging |
Het |
| Klhl35 |
A |
T |
7: 99,122,129 (GRCm39) |
S77C |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,934,867 (GRCm39) |
M228K |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,662,256 (GRCm39) |
D587G |
probably benign |
Het |
| Lrrd1 |
C |
A |
5: 3,916,509 (GRCm39) |
T842K |
probably benign |
Het |
| Mafb |
G |
A |
2: 160,208,125 (GRCm39) |
H158Y |
probably benign |
Het |
| Mapk8ip3 |
T |
A |
17: 25,123,925 (GRCm39) |
E561D |
probably damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,717,542 (GRCm39) |
T158A |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,794,463 (GRCm39) |
E1214V |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,570,074 (GRCm39) |
I815T |
unknown |
Het |
| Ncoa6 |
T |
A |
2: 155,248,172 (GRCm39) |
I1711L |
possibly damaging |
Het |
| Neo1 |
G |
A |
9: 58,785,402 (GRCm39) |
T1408M |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,571,901 (GRCm39) |
V282D |
probably damaging |
Het |
| Nnt |
A |
C |
13: 119,476,368 (GRCm39) |
F632C |
probably damaging |
Het |
| Nup210 |
G |
A |
6: 91,051,330 (GRCm39) |
T351I |
probably benign |
Het |
| Or4f59 |
A |
G |
2: 111,872,943 (GRCm39) |
S145P |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,934 (GRCm39) |
S2P |
probably benign |
Het |
| P4ha1 |
C |
T |
10: 59,191,185 (GRCm39) |
T364I |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,252 (GRCm39) |
L194Q |
probably damaging |
Het |
| Pramel52-ps |
A |
G |
5: 94,531,703 (GRCm39) |
K196E |
probably damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,901,879 (GRCm39) |
|
probably null |
Het |
| Rbm11 |
G |
A |
16: 75,397,694 (GRCm39) |
R208K |
probably benign |
Het |
| Rps6ka1 |
T |
A |
4: 133,587,368 (GRCm39) |
Q535L |
possibly damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,516,505 (GRCm39) |
D621G |
probably benign |
Het |
| Sox10 |
T |
G |
15: 79,040,652 (GRCm39) |
E296A |
probably damaging |
Het |
| St3gal4 |
A |
C |
9: 34,964,438 (GRCm39) |
V188G |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,178 (GRCm39) |
I327F |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Zc2hc1c |
A |
G |
12: 85,337,471 (GRCm39) |
E376G |
probably damaging |
Het |
| Zfp423 |
G |
A |
8: 88,509,910 (GRCm39) |
P77S |
probably damaging |
Het |
| Zfp560 |
A |
T |
9: 20,260,231 (GRCm39) |
S210R |
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 |
|
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 |
|
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'- ATGGGCCTTCTCATCGGATC -3'
(R):5'- CAGACCCTACTCTGAAGCTTGAC -3'
Sequencing Primer
(F):5'- CATCGGATCCTTTTTGGTGTC -3'
(R):5'- GCTTGACAAGATTCTAGGGTAAAAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation