Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Mgea5'

365797

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) question?

Stock #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

45750261-45783520 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45762243 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 671 (F671S)

Ref Sequence

ENSEMBL: ENSMUSP00000026243 (fasta)

Gene Model

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

AlphaFold

Q9EQQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000026243
AA Change: F671S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: F671S

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	C	T	2: 104,123,219	T130I	probably benign	Het
Ahi1	T	C	10: 21,000,551	L787P	possibly damaging	Het
Atf3	A	G	1: 191,177,443	S10P	probably benign	Het
Cdr2l	A	G	11: 115,390,900	N77S	probably damaging	Het
Cnp	A	G	11: 100,576,699	D156G	probably benign	Het
Cntn3	A	T	6: 102,168,933	D982E	probably damaging	Het
Col22a1	A	G	15: 72,006,738	L190S	probably damaging	Het
Csmd3	C	T	15: 47,913,929		probably benign	Het
Dnah5	A	G	15: 28,384,461	D3117G	probably damaging	Het
Dock5	T	C	14: 67,757,109	E1834G	probably null	Het
Eea1	A	G	10: 96,041,527	T1368A	probably benign	Het
Fam83f	T	C	15: 80,672,149	V78A	probably benign	Het
Fcgbp	G	A	7: 28,101,473	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,548,923	Y364*	probably null	Het
Gm21976	G	A	13: 98,302,549	G16R	probably null	Het
Guca2b	A	G	4: 119,657,688	S59P	probably damaging	Het
Hars2	A	G	18: 36,786,178	E123G	probably damaging	Het
Hdac2	A	T	10: 37,000,374	K462*	probably null	Het
Huwe1	T	A	X: 151,927,626		probably benign	Het
Iqgap3	T	A	3: 88,090,304	N262K	probably benign	Het
Kat6b	A	G	14: 21,669,758	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,257,080	D328E	probably benign	Het
Naca	C	T	10: 128,041,568		probably benign	Het
Npffr1	T	C	10: 61,614,139	V64A	probably damaging	Het
Olfr331	A	G	11: 58,502,385	L57P	probably damaging	Het
Olfr918	T	A	9: 38,673,268	M72L	probably damaging	Het
Pcca	A	G	14: 122,889,533	D718G	probably damaging	Het
Pde6a	A	C	18: 61,264,255	D670A	probably damaging	Het
Pramel7	T	A	2: 87,490,073	E292V	probably benign	Het
Prmt9	A	C	8: 77,565,069	M357L	probably benign	Het
Ptgfr	A	T	3: 151,835,326	S182T	probably benign	Het
Rtraf	A	T	14: 19,816,192	M152K	possibly damaging	Het
Satb1	T	C	17: 51,742,689	D579G	possibly damaging	Het
Serpinb6a	A	G	13: 33,931,470		probably null	Het
Slc5a9	T	C	4: 111,890,300	I297V	possibly damaging	Het
Slf1	T	A	13: 77,047,104		probably benign	Het
St8sia2	C	T	7: 73,966,811	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,689,280	M262V	probably benign	Het
Tmem147	A	G	7: 30,729,422		probably benign	Het
Tmem220	A	G	11: 67,034,107		probably null	Het
Uspl1	A	G	5: 149,188,346	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,606,334	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 124,127,894	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,305,744	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,300,966	M57K	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
IGL02428:Mgea5	APN	19	45765501	missense	probably damaging	1.00
IGL02581:Mgea5	APN	19	45752191	missense	possibly damaging	0.53
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
R9050:Mgea5	UTSW	19	45767915	missense	probably damaging	1.00
R9150:Mgea5	UTSW	19	45782982	missense	probably benign	0.00
R9404:Mgea5	UTSW	19	45754657	frame shift	probably null
R9562:Mgea5	UTSW	19	45754657	frame shift	probably null

Posted On

2015-12-18