Incidental Mutation 'IGL02581:Mgea5'
ID299345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgea5
Ensembl Gene ENSMUSG00000025220
Gene Namemeningioma expressed antigen 5 (hyaluronidase)
Synonyms2810009A20Rik, Hy5, 5830447M11Rik, 4833427O07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02581
Quality Score
Status
Chromosome19
Chromosomal Location45750261-45783520 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45752191 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 902 (M902L)
Ref Sequence ENSEMBL: ENSMUSP00000026243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026243] [ENSMUST00000070215]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026243
AA Change: M902L

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: M902L

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000070215
SMART Domains Protein: ENSMUSP00000069578
Gene: ENSMUSG00000056209

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
low complexity region 17 32 N/A INTRINSIC
Pfam:Nucleoplasmin 35 170 2.2e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144165
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034H15Rik A G 1: 191,903,540 probably benign Het
Abca13 C T 11: 9,399,132 probably benign Het
Aga T C 8: 53,521,044 probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
BC100530 T C 16: 36,359,498 T86A probably damaging Het
C1rl T C 6: 124,493,154 S2P possibly damaging Het
Dgkd T C 1: 87,918,002 probably benign Het
Dnajb11 A G 16: 22,871,018 N311D probably benign Het
Flg2 A C 3: 93,219,892 Q2037P unknown Het
Glyctk T C 9: 106,157,781 T29A probably benign Het
Gtf3c1 C A 7: 125,646,515 R1672L possibly damaging Het
Hps3 A T 3: 20,003,221 probably benign Het
Kcnh3 G T 15: 99,238,171 C683F possibly damaging Het
Lmtk2 T G 5: 144,148,348 F213V probably damaging Het
Malrd1 C A 2: 16,142,312 C1988* probably null Het
Map3k11 T A 19: 5,700,806 M684K probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Plekhh1 T C 12: 79,079,108 probably null Het
Rev3l C A 10: 39,821,281 N591K probably benign Het
Rrp9 T A 9: 106,483,628 N269K probably damaging Het
Sec14l4 T C 11: 4,039,941 I80T possibly damaging Het
Srpr G A 9: 35,215,032 probably null Het
Tmc8 G A 11: 117,783,888 R143H probably benign Het
Trank1 T C 9: 111,383,125 I1777T probably benign Het
Trim17 C A 11: 58,971,076 Y311* probably null Het
Vps13a C T 19: 16,655,322 A2557T probably benign Het
Vps53 T G 11: 76,102,057 N106T probably damaging Het
Other mutations in Mgea5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Mgea5 APN 19 45765540 missense possibly damaging 0.89
IGL01845:Mgea5 APN 19 45767862 missense probably benign 0.00
IGL02039:Mgea5 APN 19 45773703 missense probably damaging 0.98
IGL02428:Mgea5 APN 19 45765501 missense probably damaging 1.00
IGL02971:Mgea5 APN 19 45762243 missense probably damaging 1.00
R0127:Mgea5 UTSW 19 45771888 missense probably damaging 1.00
R0815:Mgea5 UTSW 19 45782986 missense probably benign 0.00
R0863:Mgea5 UTSW 19 45782986 missense probably benign 0.00
R1127:Mgea5 UTSW 19 45752155 nonsense probably null
R1501:Mgea5 UTSW 19 45778640 missense probably null 1.00
R1514:Mgea5 UTSW 19 45776931 missense probably damaging 1.00
R1586:Mgea5 UTSW 19 45776910 missense possibly damaging 0.94
R1716:Mgea5 UTSW 19 45752174 missense probably benign 0.35
R1755:Mgea5 UTSW 19 45758406 missense possibly damaging 0.93
R1774:Mgea5 UTSW 19 45776984 missense probably benign 0.37
R2152:Mgea5 UTSW 19 45758022 nonsense probably null
R4403:Mgea5 UTSW 19 45778639 missense probably damaging 1.00
R4664:Mgea5 UTSW 19 45771945 missense probably benign 0.15
R4971:Mgea5 UTSW 19 45770046 splice site probably null
R5377:Mgea5 UTSW 19 45758022 nonsense probably null
R5571:Mgea5 UTSW 19 45777006 missense probably benign
R5639:Mgea5 UTSW 19 45776999 missense probably damaging 1.00
R5665:Mgea5 UTSW 19 45776997 missense probably benign 0.00
R5776:Mgea5 UTSW 19 45771924 missense probably damaging 1.00
R6050:Mgea5 UTSW 19 45765480 missense possibly damaging 0.95
R6054:Mgea5 UTSW 19 45776132 missense probably damaging 1.00
R6317:Mgea5 UTSW 19 45771680 critical splice donor site probably null
R6410:Mgea5 UTSW 19 45776045 splice site probably null
R6990:Mgea5 UTSW 19 45767476 missense probably benign 0.00
R7103:Mgea5 UTSW 19 45783166 start gained probably benign
R7340:Mgea5 UTSW 19 45767456 nonsense probably null
R7437:Mgea5 UTSW 19 45778607 missense possibly damaging 0.76
R7490:Mgea5 UTSW 19 45767447 nonsense probably null
R7741:Mgea5 UTSW 19 45776062 missense probably damaging 1.00
R7823:Mgea5 UTSW 19 45776915 missense possibly damaging 0.51
R8017:Mgea5 UTSW 19 45773668 missense probably damaging 1.00
R8019:Mgea5 UTSW 19 45773668 missense probably damaging 1.00
R8066:Mgea5 UTSW 19 45771852 missense probably damaging 0.99
R8075:Mgea5 UTSW 19 45761182 missense probably damaging 0.97
R8172:Mgea5 UTSW 19 45776900 missense probably damaging 0.99
R8558:Mgea5 UTSW 19 45758072 missense probably benign 0.00
Posted On2015-04-16