Incidental Mutation 'IGL02661:Ggcx'
| ID |
302535 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ggcx
|
| Ensembl Gene |
ENSMUSG00000053460 |
| Gene Name |
gamma-glutamyl carboxylase |
| Synonyms |
vitamin K-dependent carboxylase |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.892)
|
| Stock # |
IGL02661
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
72391291-72407695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72395343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 145
(P145S)
|
| 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: P145S
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070109
Gene: ENSMUSG00000053460
AA Change: P145S
| 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: ENSMUST00000207012
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034E13Rik |
G |
T |
18: 52,793,566 (GRCm39) |
W33L |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,572 (GRCm39) |
C358S |
probably damaging |
Het |
| Ak5 |
C |
A |
3: 152,169,593 (GRCm39) |
V561F |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,066,327 (GRCm39) |
D158G |
probably benign |
Het |
| Bard1 |
A |
G |
1: 71,114,469 (GRCm39) |
S171P |
probably damaging |
Het |
| Bsn |
A |
C |
9: 107,984,135 (GRCm39) |
Y534* |
probably null |
Het |
| Clcn4 |
A |
T |
7: 7,294,730 (GRCm39) |
|
probably null |
Het |
| Cyp2j7 |
T |
C |
4: 96,124,887 (GRCm39) |
T4A |
probably benign |
Het |
| Dnajc10 |
T |
A |
2: 80,157,084 (GRCm39) |
|
probably benign |
Het |
| Dtl |
G |
T |
1: 191,273,483 (GRCm39) |
T475N |
probably benign |
Het |
| Eif3m |
T |
C |
2: 104,835,314 (GRCm39) |
Y120C |
probably damaging |
Het |
| Gab1 |
A |
G |
8: 81,515,566 (GRCm39) |
S251P |
probably damaging |
Het |
| Gba1 |
T |
A |
3: 89,110,834 (GRCm39) |
V14E |
probably benign |
Het |
| Gm13889 |
G |
A |
2: 93,787,024 (GRCm39) |
T150I |
probably benign |
Het |
| Gm4978 |
C |
A |
9: 69,358,180 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,762,821 (GRCm39) |
D850G |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,251 (GRCm39) |
I97V |
probably benign |
Het |
| Ighv1-4 |
T |
G |
12: 114,450,850 (GRCm39) |
K86T |
probably damaging |
Het |
| Ints4 |
C |
A |
7: 97,144,912 (GRCm39) |
L175I |
probably benign |
Het |
| Kif13b |
T |
G |
14: 65,005,140 (GRCm39) |
V1144G |
probably benign |
Het |
| Kpna3 |
T |
A |
14: 61,610,398 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,044,766 (GRCm39) |
D371G |
probably damaging |
Het |
| Mtf1 |
T |
C |
4: 124,718,902 (GRCm39) |
L305P |
probably damaging |
Het |
| Myo15b |
T |
G |
11: 115,774,895 (GRCm39) |
V2139G |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,830,321 (GRCm39) |
|
probably benign |
Het |
| Neurod2 |
T |
C |
11: 98,218,405 (GRCm39) |
Q253R |
possibly damaging |
Het |
| Nfkbil1 |
C |
A |
17: 35,439,647 (GRCm39) |
A289S |
probably benign |
Het |
| Or4k35 |
T |
A |
2: 111,099,811 (GRCm39) |
R300S |
possibly damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,827,413 (GRCm39) |
I474K |
probably benign |
Het |
| Pde6c |
A |
T |
19: 38,169,248 (GRCm39) |
I798F |
probably damaging |
Het |
| Pon3 |
T |
A |
6: 5,256,205 (GRCm39) |
T8S |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,587,689 (GRCm39) |
T2525A |
possibly damaging |
Het |
| Rnase10 |
T |
G |
14: 51,247,273 (GRCm39) |
V180G |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,114,778 (GRCm39) |
C712* |
probably null |
Het |
| Scamp2 |
T |
C |
9: 57,494,697 (GRCm39) |
|
probably benign |
Het |
| Serpina3i |
A |
T |
12: 104,231,515 (GRCm39) |
K51* |
probably null |
Het |
| Smyd4 |
C |
A |
11: 75,281,767 (GRCm39) |
C413* |
probably null |
Het |
| Spata2 |
C |
T |
2: 167,325,281 (GRCm39) |
V513M |
probably damaging |
Het |
| Sri |
T |
A |
5: 8,113,252 (GRCm39) |
|
probably benign |
Het |
| Urah |
A |
T |
7: 140,417,618 (GRCm39) |
K119M |
probably damaging |
Het |
| Wdr19 |
C |
T |
5: 65,403,151 (GRCm39) |
T1005I |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation