Incidental Mutation 'IGL02039:Mgea5'
| ID |
184636 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mgea5
|
| Ensembl Gene |
ENSMUSG00000025220 |
| Gene Name |
meningioma expressed antigen 5 (hyaluronidase) |
| Synonyms |
2810009A20Rik, Hy5, 5830447M11Rik, 4833427O07Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02039
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
45750261-45783520 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45773703 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 237
(V237E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026243]
|
| AlphaFold |
Q9EQQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026243
AA Change: V237E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: V237E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
57 |
N/A |
INTRINSIC |
|
Pfam:NAGidase
|
62 |
361 |
2.5e-84 |
PFAM |
|
low complexity region
|
453 |
458 |
N/A |
INTRINSIC |
|
PDB:4BMH|A
|
700 |
915 |
1e-13 |
PDB |
|
SCOP:d1cjwa_
|
715 |
916 |
1e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit perinatal lethality associated with a developmental delay and respiratory failure. Mouse embryonic fibroblasts exhibit proliferative and mitotic defects, frequent cytokinesis failure, and loss of genomic stability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,297,193 (GRCm38) |
Y2313* |
probably null |
Het |
| Arhgef12 |
A |
G |
9: 42,972,267 (GRCm38) |
I1323T |
probably benign |
Het |
| C87436 |
A |
G |
6: 86,453,695 (GRCm38) |
M366V |
probably benign |
Het |
| Cep290 |
T |
C |
10: 100,514,602 (GRCm38) |
|
probably null |
Het |
| Cpsf3 |
T |
C |
12: 21,301,456 (GRCm38) |
M326T |
probably damaging |
Het |
| Cpxm2 |
A |
G |
7: 132,047,753 (GRCm38) |
V64A |
probably damaging |
Het |
| Csnka2ip |
G |
A |
16: 64,478,594 (GRCm38) |
S25F |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,875,021 (GRCm38) |
F168L |
possibly damaging |
Het |
| Dhx8 |
T |
C |
11: 101,764,027 (GRCm38) |
|
probably null |
Het |
| Dnah2 |
T |
A |
11: 69,499,212 (GRCm38) |
I736F |
probably damaging |
Het |
| Erf |
T |
C |
7: 25,244,544 (GRCm38) |
E454G |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,450,719 (GRCm38) |
V1482A |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,365,080 (GRCm38) |
L375P |
unknown |
Het |
| Foxm1 |
T |
C |
6: 128,369,360 (GRCm38) |
Y85H |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 80,612,971 (GRCm38) |
E631G |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,240,414 (GRCm38) |
D265G |
probably damaging |
Het |
| Gprc5c |
C |
T |
11: 114,864,486 (GRCm38) |
Q330* |
probably null |
Het |
| Grin1 |
C |
T |
2: 25,305,342 (GRCm38) |
V246M |
probably damaging |
Het |
| Ifitm3 |
C |
A |
7: 141,010,650 (GRCm38) |
|
probably benign |
Het |
| Igdcc3 |
G |
A |
9: 65,183,880 (GRCm38) |
V648I |
probably benign |
Het |
| Ighv5-2 |
A |
G |
12: 113,578,594 (GRCm38) |
I87T |
probably benign |
Het |
| Imp4 |
G |
A |
1: 34,443,768 (GRCm38) |
|
probably null |
Het |
| Ino80 |
T |
C |
2: 119,380,073 (GRCm38) |
N1327D |
probably damaging |
Het |
| Kif5a |
T |
C |
10: 127,233,867 (GRCm38) |
I830V |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,871,164 (GRCm38) |
Y4696C |
possibly damaging |
Het |
| Nrl |
T |
C |
14: 55,522,110 (GRCm38) |
E120G |
probably benign |
Het |
| Nsmaf |
T |
A |
4: 6,424,995 (GRCm38) |
|
probably benign |
Het |
| Nup35 |
T |
C |
2: 80,642,775 (GRCm38) |
M64T |
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,319,659 (GRCm38) |
N470I |
probably benign |
Het |
| Olfr109 |
T |
A |
17: 37,466,449 (GRCm38) |
I81N |
possibly damaging |
Het |
| Olfr1502 |
C |
T |
19: 13,862,719 (GRCm38) |
Q309* |
probably null |
Het |
| Os9 |
G |
A |
10: 127,096,291 (GRCm38) |
P604S |
possibly damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,105,032 (GRCm38) |
T287A |
probably benign |
Het |
| Pkd2l2 |
G |
T |
18: 34,435,368 (GRCm38) |
|
probably null |
Het |
| Pola2 |
A |
T |
19: 5,948,469 (GRCm38) |
I355N |
probably damaging |
Het |
| Pp2d1 |
T |
A |
17: 53,515,994 (GRCm38) |
R15* |
probably null |
Het |
| Prpf40a |
T |
C |
2: 53,144,803 (GRCm38) |
D749G |
probably damaging |
Het |
| Rhoh |
T |
C |
5: 65,892,638 (GRCm38) |
S84P |
probably damaging |
Het |
| Slc12a7 |
T |
C |
13: 73,809,094 (GRCm38) |
|
probably null |
Het |
| Slc37a2 |
A |
G |
9: 37,233,684 (GRCm38) |
I454T |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,716,137 (GRCm38) |
D28G |
probably damaging |
Het |
| Socs4 |
T |
C |
14: 47,290,193 (GRCm38) |
I195T |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,123,980 (GRCm38) |
|
probably null |
Het |
| Thbd |
T |
C |
2: 148,406,542 (GRCm38) |
T469A |
probably benign |
Het |
| Thoc5 |
T |
C |
11: 4,922,027 (GRCm38) |
|
probably null |
Het |
| Vmn1r173 |
G |
T |
7: 23,702,896 (GRCm38) |
M185I |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,454,381 (GRCm38) |
S127G |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,556,189 (GRCm38) |
E408G |
probably damaging |
Het |
| Yars |
A |
T |
4: 129,215,259 (GRCm38) |
I428F |
probably damaging |
Het |
| Zglp1 |
T |
C |
9: 21,067,039 (GRCm38) |
E14G |
possibly damaging |
Het |
|
| Other mutations in Mgea5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Mgea5
|
APN |
19 |
45,765,540 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL01845:Mgea5
|
APN |
19 |
45,767,862 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02428:Mgea5
|
APN |
19 |
45,765,501 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02581:Mgea5
|
APN |
19 |
45,752,191 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL02971:Mgea5
|
APN |
19 |
45,762,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0127:Mgea5
|
UTSW |
19 |
45,771,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0815:Mgea5
|
UTSW |
19 |
45,782,986 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0863:Mgea5
|
UTSW |
19 |
45,782,986 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1127:Mgea5
|
UTSW |
19 |
45,752,155 (GRCm38) |
nonsense |
probably null |
|
|
R1501:Mgea5
|
UTSW |
19 |
45,778,640 (GRCm38) |
missense |
probably null |
1.00 |
|
R1514:Mgea5
|
UTSW |
19 |
45,776,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1586:Mgea5
|
UTSW |
19 |
45,776,910 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1716:Mgea5
|
UTSW |
19 |
45,752,174 (GRCm38) |
missense |
probably benign |
0.35 |
|
R1755:Mgea5
|
UTSW |
19 |
45,758,406 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1774:Mgea5
|
UTSW |
19 |
45,776,984 (GRCm38) |
missense |
probably benign |
0.37 |
|
R2152:Mgea5
|
UTSW |
19 |
45,758,022 (GRCm38) |
nonsense |
probably null |
|
|
R4403:Mgea5
|
UTSW |
19 |
45,778,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4664:Mgea5
|
UTSW |
19 |
45,771,945 (GRCm38) |
missense |
probably benign |
0.15 |
|
R4971:Mgea5
|
UTSW |
19 |
45,770,046 (GRCm38) |
splice site |
probably null |
|
|
R5377:Mgea5
|
UTSW |
19 |
45,758,022 (GRCm38) |
nonsense |
probably null |
|
|
R5571:Mgea5
|
UTSW |
19 |
45,777,006 (GRCm38) |
missense |
probably benign |
|
|
R5639:Mgea5
|
UTSW |
19 |
45,776,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5665:Mgea5
|
UTSW |
19 |
45,776,997 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5776:Mgea5
|
UTSW |
19 |
45,771,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6050:Mgea5
|
UTSW |
19 |
45,765,480 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6054:Mgea5
|
UTSW |
19 |
45,776,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6317:Mgea5
|
UTSW |
19 |
45,771,680 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6410:Mgea5
|
UTSW |
19 |
45,776,045 (GRCm38) |
splice site |
probably null |
|
|
R6990:Mgea5
|
UTSW |
19 |
45,767,476 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7103:Mgea5
|
UTSW |
19 |
45,783,166 (GRCm38) |
start gained |
probably benign |
|
|
R7340:Mgea5
|
UTSW |
19 |
45,767,456 (GRCm38) |
nonsense |
probably null |
|
|
R7437:Mgea5
|
UTSW |
19 |
45,778,607 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R7490:Mgea5
|
UTSW |
19 |
45,767,447 (GRCm38) |
nonsense |
probably null |
|
|
R7741:Mgea5
|
UTSW |
19 |
45,776,062 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7823:Mgea5
|
UTSW |
19 |
45,776,915 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R8017:Mgea5
|
UTSW |
19 |
45,773,668 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8019:Mgea5
|
UTSW |
19 |
45,773,668 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8066:Mgea5
|
UTSW |
19 |
45,771,852 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8075:Mgea5
|
UTSW |
19 |
45,761,182 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8172:Mgea5
|
UTSW |
19 |
45,776,900 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8558:Mgea5
|
UTSW |
19 |
45,758,072 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9050:Mgea5
|
UTSW |
19 |
45,767,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9150:Mgea5
|
UTSW |
19 |
45,782,982 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9404:Mgea5
|
UTSW |
19 |
45,754,657 (GRCm38) |
frame shift |
probably null |
|
|
R9562:Mgea5
|
UTSW |
19 |
45,754,657 (GRCm38) |
frame shift |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation