Incidental Mutation 'IGL01845:Mgea5'
| ID |
178177 |
| 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 # |
IGL01845
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
45750261-45783520 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45767862 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 447
(E447D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026243]
|
| AlphaFold |
Q9EQQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026243
AA Change: E447D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: E447D
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
T |
C |
17: 14,944,118 (GRCm38) |
L169P |
probably damaging |
Het |
| 4933405L10Rik |
C |
A |
8: 105,708,935 (GRCm38) |
A75E |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,090,297 (GRCm38) |
L384P |
probably damaging |
Het |
| Acox2 |
C |
A |
14: 8,251,617 (GRCm38) |
M293I |
probably damaging |
Het |
| Acp6 |
A |
G |
3: 97,173,807 (GRCm38) |
S288G |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 43,022,841 (GRCm38) |
H127L |
possibly damaging |
Het |
| Arid2 |
T |
G |
15: 96,356,797 (GRCm38) |
F175V |
probably damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,315,236 (GRCm38) |
Q468* |
probably null |
Het |
| Ccdc93 |
T |
C |
1: 121,463,130 (GRCm38) |
I277T |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,098,954 (GRCm38) |
|
probably benign |
Het |
| Cdipt |
T |
C |
7: 126,979,553 (GRCm38) |
S145P |
possibly damaging |
Het |
| Cfap206 |
T |
C |
4: 34,719,610 (GRCm38) |
N268S |
possibly damaging |
Het |
| Clcn3 |
A |
T |
8: 60,913,095 (GRCm38) |
N814K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,796,571 (GRCm38) |
D2019G |
probably damaging |
Het |
| Corin |
C |
A |
5: 72,353,939 (GRCm38) |
G432C |
probably damaging |
Het |
| Cyld |
C |
T |
8: 88,705,775 (GRCm38) |
Q134* |
probably null |
Het |
| Dhh |
C |
A |
15: 98,897,983 (GRCm38) |
R97L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,449,169 (GRCm38) |
V4239A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,708,865 (GRCm38) |
I296V |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,048,414 (GRCm38) |
|
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,219,949 (GRCm38) |
|
probably null |
Het |
| Ispd |
A |
G |
12: 36,547,919 (GRCm38) |
R350G |
probably benign |
Het |
| Itgam |
T |
A |
7: 128,112,472 (GRCm38) |
L753Q |
probably damaging |
Het |
| Kbtbd12 |
A |
G |
6: 88,613,940 (GRCm38) |
V430A |
probably benign |
Het |
| Kdm4a |
A |
G |
4: 118,160,459 (GRCm38) |
V470A |
possibly damaging |
Het |
| Larp1b |
A |
T |
3: 40,970,525 (GRCm38) |
T146S |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 111,199,660 (GRCm38) |
|
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,549,584 (GRCm38) |
C137S |
possibly damaging |
Het |
| Morc3 |
A |
G |
16: 93,860,567 (GRCm38) |
Y393C |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,322,387 (GRCm38) |
M217K |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,805,365 (GRCm38) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,193,034 (GRCm38) |
E1546G |
probably benign |
Het |
| Nlgn2 |
A |
G |
11: 69,825,849 (GRCm38) |
L622P |
possibly damaging |
Het |
| Olfr1419 |
A |
G |
19: 11,870,524 (GRCm38) |
S231P |
probably benign |
Het |
| Olfr181 |
T |
C |
16: 58,926,566 (GRCm38) |
M2V |
probably benign |
Het |
| Olfr339 |
A |
C |
2: 36,422,093 (GRCm38) |
K232Q |
probably benign |
Het |
| Olfr393 |
A |
G |
11: 73,847,472 (GRCm38) |
Y218H |
probably damaging |
Het |
| Olfr504 |
T |
A |
7: 108,565,136 (GRCm38) |
I220L |
possibly damaging |
Het |
| Phf20 |
C |
A |
2: 156,276,657 (GRCm38) |
S427* |
probably null |
Het |
| Pirt |
G |
A |
11: 66,925,968 (GRCm38) |
S35N |
probably damaging |
Het |
| Prss28 |
C |
A |
17: 25,310,037 (GRCm38) |
N117K |
possibly damaging |
Het |
| Rbbp8nl |
A |
G |
2: 180,283,311 (GRCm38) |
C34R |
probably damaging |
Het |
| Rtn3 |
A |
T |
19: 7,457,876 (GRCm38) |
D231E |
probably damaging |
Het |
| Sema5a |
T |
C |
15: 32,474,368 (GRCm38) |
|
probably benign |
Het |
| Sh3bp2 |
T |
A |
5: 34,556,003 (GRCm38) |
L196Q |
probably damaging |
Het |
| Slc26a9 |
G |
T |
1: 131,757,518 (GRCm38) |
D325Y |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,353,903 (GRCm38) |
V622A |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,407,096 (GRCm38) |
V284A |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,652,510 (GRCm38) |
F609L |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,868,006 (GRCm38) |
|
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,332,832 (GRCm38) |
Y881* |
probably null |
Het |
| Ttc41 |
A |
T |
10: 86,776,624 (GRCm38) |
T1254S |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,810,003 (GRCm38) |
D13754N |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,363,896 (GRCm38) |
F656L |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,225,366 (GRCm38) |
I478V |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,380,854 (GRCm38) |
|
probably benign |
Het |
| Zp2 |
T |
A |
7: 120,138,191 (GRCm38) |
D258V |
probably 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 |
|
IGL02039:Mgea5
|
APN |
19 |
45,773,703 (GRCm38) |
missense |
probably damaging |
0.98 |
|
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