Incidental Mutation 'R5377:Mgea5'
| ID |
425656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgea5
|
| Ensembl Gene |
ENSMUSG00000025220 |
| Gene Name |
meningioma expressed antigen 5 (hyaluronidase) |
| Synonyms |
2810009A20Rik, Hy5, 5830447M11Rik, 4833427O07Rik |
| MMRRC Submission |
042845-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5377 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
45750261-45783520 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 45758022 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 779
(Y779*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026243]
|
| AlphaFold |
Q9EQQ9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026243
AA Change: Y779*
|
| SMART Domains |
Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: Y779*
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
T |
6: 121,645,253 (GRCm38) |
V372F |
probably benign |
Het |
| Adcy10 |
G |
A |
1: 165,519,895 (GRCm38) |
C393Y |
probably damaging |
Het |
| Adgrg7 |
A |
C |
16: 56,730,306 (GRCm38) |
I681S |
possibly damaging |
Het |
| Akap8l |
T |
C |
17: 32,321,511 (GRCm38) |
|
probably benign |
Het |
| Akr1a1 |
A |
T |
4: 116,639,895 (GRCm38) |
V156E |
probably damaging |
Het |
| Alk |
T |
G |
17: 71,895,739 (GRCm38) |
D1167A |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 122,893,714 (GRCm38) |
|
probably null |
Het |
| Aspm |
T |
A |
1: 139,457,483 (GRCm38) |
N288K |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,470,395 (GRCm38) |
|
probably null |
Het |
| Asxl2 |
G |
A |
12: 3,474,618 (GRCm38) |
|
probably null |
Het |
| Atp6v0a1 |
A |
G |
11: 101,055,587 (GRCm38) |
H802R |
probably damaging |
Het |
| B4galnt1 |
A |
G |
10: 127,171,822 (GRCm38) |
T531A |
possibly damaging |
Het |
| Ccdc114 |
C |
T |
7: 45,942,082 (GRCm38) |
R257* |
probably null |
Het |
| Cecr2 |
A |
G |
6: 120,756,569 (GRCm38) |
N506D |
possibly damaging |
Het |
| Crebrf |
T |
C |
17: 26,759,865 (GRCm38) |
V509A |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,675,616 (GRCm38) |
I413F |
probably null |
Het |
| Defb12 |
C |
A |
8: 19,114,326 (GRCm38) |
|
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,421,848 (GRCm38) |
E4297G |
probably damaging |
Het |
| Dpysl5 |
A |
T |
5: 30,791,513 (GRCm38) |
N371Y |
probably damaging |
Het |
| Eef1d |
G |
T |
15: 75,903,189 (GRCm38) |
T207N |
probably benign |
Het |
| Esrrb |
C |
T |
12: 86,519,009 (GRCm38) |
Q416* |
probably null |
Het |
| Exd2 |
T |
C |
12: 80,489,448 (GRCm38) |
L284P |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,376,443 (GRCm38) |
I595F |
probably benign |
Het |
| Gm9920 |
A |
G |
15: 55,108,975 (GRCm38) |
|
probably benign |
Het |
| Hephl1 |
T |
C |
9: 15,069,788 (GRCm38) |
K783E |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,005,277 (GRCm38) |
S1052P |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,963,093 (GRCm38) |
I192V |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,453,746 (GRCm38) |
D722G |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,815,019 (GRCm38) |
V1080A |
possibly damaging |
Het |
| Lpin1 |
C |
T |
12: 16,563,655 (GRCm38) |
G504S |
probably damaging |
Het |
| Lrit2 |
A |
C |
14: 37,069,183 (GRCm38) |
Q273P |
possibly damaging |
Het |
| Mlkl |
T |
A |
8: 111,327,937 (GRCm38) |
E189D |
probably benign |
Het |
| Mttp |
C |
T |
3: 138,105,029 (GRCm38) |
R608H |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,589,160 (GRCm38) |
V2011A |
probably benign |
Het |
| Nos2 |
A |
T |
11: 78,957,491 (GRCm38) |
I1075F |
probably benign |
Het |
| Npat |
A |
G |
9: 53,550,036 (GRCm38) |
|
probably null |
Het |
| Nucks1 |
T |
C |
1: 131,919,033 (GRCm38) |
F16L |
probably damaging |
Het |
| Nus1 |
T |
C |
10: 52,429,213 (GRCm38) |
S150P |
possibly damaging |
Het |
| Olfr1230 |
G |
T |
2: 89,297,162 (GRCm38) |
T36K |
probably damaging |
Het |
| Olfr881 |
A |
T |
9: 37,992,612 (GRCm38) |
Y40F |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,681,353 (GRCm38) |
T3290A |
unknown |
Het |
| Pign |
A |
T |
1: 105,657,812 (GRCm38) |
F4Y |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,860,542 (GRCm38) |
N233D |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,160,195 (GRCm38) |
M1325L |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 (GRCm38) |
C537R |
probably damaging |
Het |
| Scaf11 |
T |
A |
15: 96,417,120 (GRCm38) |
H1227L |
possibly damaging |
Het |
| Sec31b |
G |
T |
19: 44,518,637 (GRCm38) |
P840T |
probably damaging |
Het |
| Slc16a9 |
T |
A |
10: 70,283,128 (GRCm38) |
L426I |
probably damaging |
Het |
| Slc17a2 |
T |
C |
13: 23,812,592 (GRCm38) |
S27P |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,344,393 (GRCm38) |
Q436* |
probably null |
Het |
| Tacc1 |
A |
G |
8: 25,182,283 (GRCm38) |
S310P |
possibly damaging |
Het |
| Tmem245 |
G |
A |
4: 56,947,084 (GRCm38) |
R110C |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,757,431 (GRCm38) |
Y953C |
probably damaging |
Het |
| Trpm7 |
C |
A |
2: 126,842,855 (GRCm38) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,912,123 (GRCm38) |
V4561I |
probably benign |
Het |
| Vmn1r192 |
C |
T |
13: 22,187,631 (GRCm38) |
V140I |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 85,006,818 (GRCm38) |
I330N |
probably damaging |
Het |
| Vmn2r99 |
T |
C |
17: 19,379,269 (GRCm38) |
V405A |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,272,221 (GRCm38) |
V172G |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 108,951,185 (GRCm38) |
R2956C |
possibly damaging |
Het |
| Zfp446 |
T |
C |
7: 12,982,251 (GRCm38) |
L283P |
possibly damaging |
Het |
| Zfp82 |
T |
C |
7: 30,057,166 (GRCm38) |
K164E |
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 |
|
IGL01845:Mgea5
|
APN |
19 |
45,767,862 (GRCm38) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGAATGTACCATCACACTTGG -3'
(R):5'- GTCTGAAAACGGATGTTAGGTC -3'
Sequencing Primer
(F):5'- CTTCTCTTGCATGAAGGG -3'
(R):5'- TCATTTCCTGATATTCCAAAGGTTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation