Incidental Mutation 'R8096:Ggcx'
ID |
630191 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ggcx
|
Ensembl Gene |
ENSMUSG00000053460 |
Gene Name |
gamma-glutamyl carboxylase |
Synonyms |
vitamin K-dependent carboxylase |
MMRRC Submission |
067528-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.906)
|
Stock # |
R8096 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
72391291-72407695 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 72406976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 704
(R704Q)
|
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: R704Q
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000070109 Gene: ENSMUSG00000053460 AA Change: R704Q
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.3%
|
Validation Efficiency |
98% (44/45) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
G |
A |
14: 54,882,726 (GRCm39) |
A999V |
possibly damaging |
Het |
Actn4 |
A |
G |
7: 28,594,008 (GRCm39) |
I833T |
possibly damaging |
Het |
Actn4 |
C |
A |
7: 28,601,338 (GRCm39) |
R470L |
probably damaging |
Het |
Adgre4 |
T |
A |
17: 56,127,700 (GRCm39) |
I580N |
probably damaging |
Het |
Arid5b |
T |
A |
10: 68,021,982 (GRCm39) |
T203S |
probably benign |
Het |
Astn1 |
A |
G |
1: 158,436,890 (GRCm39) |
Y824C |
probably damaging |
Het |
Cacna2d3 |
A |
G |
14: 28,825,657 (GRCm39) |
V506A |
possibly damaging |
Het |
Cdk17 |
T |
G |
10: 93,052,229 (GRCm39) |
M103R |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,455,446 (GRCm39) |
E449V |
probably damaging |
Het |
Cux2 |
A |
G |
5: 122,007,160 (GRCm39) |
Y834H |
possibly damaging |
Het |
Dynlrb2 |
A |
G |
8: 117,234,256 (GRCm39) |
T7A |
possibly damaging |
Het |
Gpr87 |
A |
T |
3: 59,087,229 (GRCm39) |
L92Q |
possibly damaging |
Het |
Grik1 |
C |
T |
16: 87,803,355 (GRCm39) |
G279E |
|
Het |
Igsf10 |
G |
T |
3: 59,236,380 (GRCm39) |
T1267N |
probably damaging |
Het |
Mrc2 |
G |
T |
11: 105,234,333 (GRCm39) |
R951L |
probably damaging |
Het |
Muc4 |
T |
A |
16: 32,575,764 (GRCm39) |
S1755T |
unknown |
Het |
Muc5b |
T |
C |
7: 141,403,292 (GRCm39) |
V751A |
unknown |
Het |
Or10a3 |
A |
T |
7: 108,480,248 (GRCm39) |
C188* |
probably null |
Het |
Or1l4 |
T |
A |
2: 37,092,078 (GRCm39) |
V275E |
probably damaging |
Het |
Or8u9 |
T |
A |
2: 86,002,056 (GRCm39) |
Y35F |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,762,975 (GRCm39) |
Y531C |
|
Het |
Pigr |
A |
G |
1: 130,774,247 (GRCm39) |
E409G |
probably damaging |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Rsph14 |
T |
A |
10: 74,795,493 (GRCm39) |
I231F |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,708,626 (GRCm39) |
S4812P |
unknown |
Het |
Scgb2b24 |
T |
A |
7: 33,438,646 (GRCm39) |
|
probably null |
Het |
Scn2a |
T |
A |
2: 65,594,366 (GRCm39) |
H1738Q |
probably damaging |
Het |
Scrib |
A |
T |
15: 75,934,558 (GRCm39) |
D678E |
probably benign |
Het |
Slc39a8 |
T |
C |
3: 135,590,417 (GRCm39) |
F370S |
probably damaging |
Het |
Sphkap |
A |
T |
1: 83,255,279 (GRCm39) |
D823E |
probably damaging |
Het |
Srrm3 |
T |
A |
5: 135,898,094 (GRCm39) |
I555N |
unknown |
Het |
Stx19 |
A |
C |
16: 62,642,524 (GRCm39) |
E113D |
possibly damaging |
Het |
Tex30 |
A |
T |
1: 44,127,663 (GRCm39) |
Y91N |
probably damaging |
Het |
Tnfsf13 |
A |
G |
11: 69,575,983 (GRCm39) |
C35R |
probably damaging |
Het |
Tnik |
G |
A |
3: 28,715,927 (GRCm39) |
M1180I |
possibly damaging |
Het |
Tnn |
C |
T |
1: 159,950,411 (GRCm39) |
A732T |
probably damaging |
Het |
Tpra1 |
C |
T |
6: 88,888,699 (GRCm39) |
Q294* |
probably null |
Het |
Trim24 |
G |
T |
6: 37,935,592 (GRCm39) |
S895I |
probably benign |
Het |
Trim68 |
A |
G |
7: 102,327,649 (GRCm39) |
S435P |
probably damaging |
Het |
Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
Zfp280d |
T |
C |
9: 72,226,560 (GRCm39) |
C335R |
probably damaging |
Het |
Zfp958 |
G |
T |
8: 4,663,273 (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 |
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 |
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'- TCAGAGTAGGGTCTGCTTGC -3'
(R):5'- TGCGTAGACAATAAGCCTATAACAG -3'
Sequencing Primer
(F):5'- CATTTGAGATGTGGAAGGGTCATTTC -3'
(R):5'- AGAGCATCTGTACATCCCTCAG -3'
|
Posted On |
2020-06-30 |