Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02428:Mgea5'

293006

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02428

Quality Score

Status

Chromosome

Chromosomal Location

45750261-45783520 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45765501 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 645 (W645R)

Ref Sequence

ENSEMBL: ENSMUSP00000026243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026243]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026243
AA Change: W645R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: W645R

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	C	14: 32,388,248		probably benign	Het
AB124611	C	T	9: 21,528,925	S69L	possibly damaging	Het
Abca6	G	A	11: 110,178,792	A1566V	possibly damaging	Het
Ahnak	A	G	19: 9,014,833	I4494V	possibly damaging	Het
Ascc3	T	A	10: 50,845,695	Y2081*	probably null	Het
Cdc42bpb	T	C	12: 111,323,127	T423A	probably benign	Het
Cdh6	T	A	15: 13,064,430	I125F	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Csmd2	T	C	4: 128,474,816	L1845P	possibly damaging	Het
Epha4	A	G	1: 77,506,748	V208A	possibly damaging	Het
Fanci	A	G	7: 79,444,516		probably benign	Het
Fezf2	T	C	14: 12,344,494	E231G	probably damaging	Het
Flnc	A	G	6: 29,451,485	D1566G	probably damaging	Het
Gm11565	A	G	11: 99,914,985	T68A	probably benign	Het
Ifng	G	A	10: 118,445,254	R154H	probably damaging	Het
Il1r1	G	A	1: 40,313,232	E521K	possibly damaging	Het
Irf3	G	T	7: 44,998,739	L9F	probably damaging	Het
Jade1	T	G	3: 41,613,939	I814S	probably benign	Het
Kcnh1	G	A	1: 192,337,543	W365*	probably null	Het
Kif16b	T	C	2: 142,672,360	T1209A	possibly damaging	Het
Mcur1	A	T	13: 43,541,727	S324T	probably damaging	Het
Mgat2	C	A	12: 69,184,784	A44E	probably benign	Het
Nox1	A	G	X: 134,107,834		probably benign	Het
Olfr608	A	T	7: 103,470,383	I115F	probably benign	Het
Olfr993	A	G	2: 85,414,193	S229P	probably benign	Het
Pcnt	A	T	10: 76,429,256	I340N	probably damaging	Het
Pde11a	T	C	2: 76,046,845	E760G	possibly damaging	Het
Per3	C	T	4: 151,018,217		probably null	Het
Rabep1	G	A	11: 70,917,480	A421T	probably benign	Het
Rint1	C	T	5: 23,794,452	Q80*	probably null	Het
Rnaset2b	G	A	17: 6,981,169		probably null	Het
Sccpdh	T	C	1: 179,680,505	Y237H	probably benign	Het
Scn10a	T	A	9: 119,691,562	T91S	probably damaging	Het
Spock1	A	G	13: 57,444,432		probably benign	Het
Stat1	A	G	1: 52,142,966		probably benign	Het
Svil	A	G	18: 5,118,203	E2212G	probably damaging	Het
Taok1	T	A	11: 77,549,277	R635W	probably benign	Het
Vmn1r39	A	G	6: 66,804,962	I124T	probably benign	Het
Vmn2r32	T	C	7: 7,474,284	I369M	probably benign	Het

Other mutations in Mgea5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02581:Mgea5	APN	19	45752191	missense	possibly damaging	0.53
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

Posted On

2015-04-16