Mutagenetix > Incidental Mutation

Incidental Mutation 'R8558:Mgea5'

660896

Institutional Source

Beutler Lab

Gene Symbol

Mgea5

Ensembl Gene

ENSMUSG00000025220

Gene Name

meningioma expressed antigen 5 (hyaluronidase)

Synonyms

2810009A20Rik, Hy5, 5830447M11Rik, 4833427O07Rik

MMRRC Submission

068521-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8558 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45750261-45783520 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45758072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 763 (S763G)

Ref Sequence

ENSEMBL: ENSMUSP00000026243 (fasta)

Gene Model

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

AlphaFold

Q9EQQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000026243
AA Change: S763G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: S763G

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,594,635 (GRCm38)	R51S	probably benign	Het
1700067P10Rik	G	T	17: 48,090,329 (GRCm38)	E45*	probably null	Het
4932438A13Rik	T	A	3: 37,048,601 (GRCm38)	M1443K		Het
Abcb5	T	C	12: 118,877,831 (GRCm38)	T960A	probably benign	Het
Abcc3	A	G	11: 94,351,797 (GRCm38)		probably null	Het
Adamtsl3	A	T	7: 82,428,392 (GRCm38)	D95V	possibly damaging	Het
Ash1l	T	A	3: 88,984,406 (GRCm38)	S1197R	probably damaging	Het
BC034090	T	A	1: 155,221,339 (GRCm38)	H671L	possibly damaging	Het
Btnl9	T	C	11: 49,180,792 (GRCm38)	E68G	probably benign	Het
C1qtnf1	A	T	11: 118,448,323 (GRCm38)	Y273F	probably damaging	Het
C4b	A	T	17: 34,736,567 (GRCm38)	C714S	probably damaging	Het
Carmil1	G	A	13: 24,025,880 (GRCm38)	T1204I	probably benign	Het
Ccdc105	T	C	10: 78,747,201 (GRCm38)	K450E	probably damaging	Het
Cdk12	T	C	11: 98,211,089 (GRCm38)	L591P	unknown	Het
Ces2f	T	A	8: 104,953,126 (GRCm38)	L417*	probably null	Het
Chl1	T	A	6: 103,708,429 (GRCm38)	S810R	probably benign	Het
Ckap2	A	G	8: 22,168,795 (GRCm38)	V644A	possibly damaging	Het
Ctdsp2	T	A	10: 126,993,877 (GRCm38)	V126E	probably damaging	Het
Dok6	G	T	18: 89,473,942 (GRCm38)	H170Q	probably damaging	Het
Dynlrb1	T	C	2: 155,242,808 (GRCm38)		probably null	Het
Eif5b	T	C	1: 38,044,714 (GRCm38)	L757S	probably damaging	Het
Epas1	A	C	17: 86,809,468 (GRCm38)	T189P	possibly damaging	Het
Epha10	C	A	4: 124,894,984 (GRCm38)	N283K		Het
Epha5	C	A	5: 84,059,116 (GRCm38)	G853C	probably damaging	Het
Gapvd1	A	T	2: 34,704,481 (GRCm38)	H831Q	probably damaging	Het
Gcnt3	T	A	9: 70,034,714 (GRCm38)	K191*	probably null	Het
Gm14226	T	A	2: 155,024,989 (GRCm38)	S289T	probably benign	Het
Gm4846	T	A	1: 166,487,105 (GRCm38)	D323V	probably damaging	Het
Golga3	G	T	5: 110,208,555 (GRCm38)	R1036L	possibly damaging	Het
Gopc	T	C	10: 52,353,484 (GRCm38)	Q213R	probably damaging	Het
Hrh1	G	A	6: 114,480,603 (GRCm38)	V282M	probably benign	Het
Ighv5-4	T	C	12: 113,597,458 (GRCm38)	Y114C	probably damaging	Het
Igkv10-94	A	T	6: 68,704,652 (GRCm38)	I68N	probably damaging	Het
Kcnj3	A	G	2: 55,446,863 (GRCm38)	D247G	possibly damaging	Het
Lcn6	C	A	2: 25,680,706 (GRCm38)	S102Y	probably damaging	Het
Matk	C	A	10: 81,260,931 (GRCm38)	H232N	probably benign	Het
Mcm9	C	T	10: 53,615,972 (GRCm38)	V366I	probably benign	Het
Nadk	A	G	4: 155,585,387 (GRCm38)	I176V	probably benign	Het
Nlrp12	A	G	7: 3,249,481 (GRCm38)	L20P	probably damaging	Het
Olfr1118	A	T	2: 87,309,239 (GRCm38)	Q170L	probably benign	Het
Olfr1245	A	G	2: 89,574,985 (GRCm38)	L247P	probably damaging	Het
Olfr380	G	A	11: 73,453,483 (GRCm38)	S243F	probably damaging	Het
Park2	T	C	17: 11,237,585 (GRCm38)	S99P	probably benign	Het
Pcdhgb6	T	A	18: 37,744,184 (GRCm38)	D648E	probably damaging	Het
Pkd1l3	A	T	8: 109,635,380 (GRCm38)	N1018I	probably damaging	Het
Plch2	T	C	4: 154,998,934 (GRCm38)	K516E	probably damaging	Het
Pmpca	G	C	2: 26,395,034 (GRCm38)	E424Q	possibly damaging	Het
Pnma2	C	T	14: 66,916,523 (GRCm38)	A132V	probably benign	Het
Prune2	A	G	19: 17,122,238 (GRCm38)	E1702G	probably damaging	Het
Qars	T	A	9: 108,515,223 (GRCm38)	H756Q	probably benign	Het
Rab5a	A	G	17: 53,483,849 (GRCm38)		probably benign	Het
Rars2	A	G	4: 34,657,199 (GRCm38)	D515G	probably damaging	Het
Rpe65	T	A	3: 159,614,792 (GRCm38)	C329S	probably damaging	Het
Rps6ka2	G	A	17: 7,255,917 (GRCm38)	V231M	possibly damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,579,907 (GRCm38)		probably benign	Het
Scrt1	G	T	15: 76,519,643 (GRCm38)	S49*	probably null	Het
Sec23b	C	G	2: 144,586,388 (GRCm38)	D640E	possibly damaging	Het
Setdb1	C	T	3: 95,354,668 (GRCm38)	V96M	possibly damaging	Het
Sik3	C	A	9: 46,155,448 (GRCm38)	A175E	probably damaging	Het
Smarcad1	A	G	6: 65,083,924 (GRCm38)	K463E	probably benign	Het
Sobp	A	C	10: 43,127,892 (GRCm38)	C154G	probably damaging	Het
Sox6	A	G	7: 115,541,798 (GRCm38)	S482P	probably benign	Het
Spen	C	T	4: 141,470,370 (GRCm38)	A3396T	probably benign	Het
Spink11	T	A	18: 44,191,681 (GRCm38)	R75*	probably null	Het
Sptb	T	C	12: 76,612,787 (GRCm38)	H1113R	probably benign	Het
Sypl2	A	T	3: 108,217,688 (GRCm38)	V119E	probably damaging	Het
Tbc1d24	T	C	17: 24,208,929 (GRCm38)	S20G	unknown	Het
Top2a	A	T	11: 99,021,723 (GRCm38)	V106D	probably damaging	Het
Tspyl4	G	C	10: 34,298,265 (GRCm38)	R251P	probably damaging	Het
Ttc21a	T	A	9: 119,958,769 (GRCm38)	L801Q	probably damaging	Het
Vgll3	A	G	16: 65,827,958 (GRCm38)	E64G	probably damaging	Het
Vmn2r30	A	G	7: 7,312,656 (GRCm38)	I726T	possibly damaging	Het
Vmn2r81	T	C	10: 79,270,633 (GRCm38)	S482P	possibly damaging	Het
Wasf1	T	G	10: 40,930,652 (GRCm38)	M97R	possibly damaging	Het
Wdr33	T	A	18: 31,829,894 (GRCm38)	M98K	probably benign	Het
Wdr73	G	A	7: 80,898,506 (GRCm38)	T95I	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
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
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'- GAATGTACCATCACACTTGGTG -3'
(R):5'- AAGTCTGAAAACGGATGTTAGGTC -3'

Sequencing Primer
(F):5'- CTGAGAGCTCTTTGTCAC -3'
(R):5'- CGGATGTTAGGTCTATTTTCATTTCC -3'

Posted On

2021-03-08