Mutagenetix > Incidental Mutation

Incidental Mutation 'R1514:Mgea5'

168659

Institutional Source

Beutler Lab

Gene Symbol

Mgea5

Ensembl Gene

ENSMUSG00000025220

Gene Name

meningioma expressed antigen 5 (hyaluronidase)

Synonyms

2810009A20Rik, Hy5, 5830447M11Rik, 4833427O07Rik

MMRRC Submission

039561-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1514 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45750261-45783520 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45776931 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 146 (S146P)

Ref Sequence

ENSEMBL: ENSMUSP00000026243 (fasta)

Gene Model

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

AlphaFold

Q9EQQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000026243
AA Change: S146P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: S146P

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

Meta Mutation Damage Score

0.9453

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,612,867 (GRCm38)	L147Q	probably damaging	Het
Abcb1a	A	G	5: 8,674,791 (GRCm38)	T75A	possibly damaging	Het
Acvr1	A	T	2: 58,447,585 (GRCm38)	L495*	probably null	Het
Add1	T	C	5: 34,610,617 (GRCm38)	I240T	probably benign	Het
Adgra2	C	A	8: 27,121,278 (GRCm38)	S870*	probably null	Het
Amer3	G	A	1: 34,579,327 (GRCm38)		probably benign	Het
Baz2b	A	T	2: 59,962,326 (GRCm38)	V486D	probably benign	Het
Bcorl1	T	A	X: 48,405,944 (GRCm38)	D1697E	probably damaging	Het
Cenpf	T	C	1: 189,679,141 (GRCm38)	D282G	possibly damaging	Het
Cep112	A	G	11: 108,472,054 (GRCm38)	D200G	probably damaging	Het
Clec4a4	C	T	6: 122,990,442 (GRCm38)	P26S	probably benign	Het
Crygf	A	C	1: 65,928,038 (GRCm38)	R102S	possibly damaging	Het
Cyp2b19	A	T	7: 26,767,160 (GRCm38)	E404D	probably benign	Het
Dcdc2a	A	G	13: 25,061,254 (GRCm38)	I105V	probably benign	Het
Dus4l	T	C	12: 31,640,939 (GRCm38)	M238V	probably damaging	Het
Eprs	G	A	1: 185,381,834 (GRCm38)	M326I	probably damaging	Het
Evpl	T	C	11: 116,223,835 (GRCm38)	T1010A	probably benign	Het
Fam124b	T	C	1: 80,200,431 (GRCm38)	T284A	possibly damaging	Het
Fam84a	C	T	12: 14,149,863 (GRCm38)	V288M	probably damaging	Het
Glb1l2	A	G	9: 26,769,124 (GRCm38)		probably benign	Het
Gm15922	G	A	7: 3,739,640 (GRCm38)	T23I	possibly damaging	Het
Gm16223	T	A	5: 42,067,955 (GRCm38)		probably null	Het
Gm438	T	C	4: 144,777,759 (GRCm38)	N274S	probably damaging	Het
Gm4952	T	A	19: 12,626,914 (GRCm38)	M230K	probably damaging	Het
Gm5828	C	A	1: 16,769,359 (GRCm38)		noncoding transcript	Het
Gm597	T	A	1: 28,778,748 (GRCm38)	T68S	possibly damaging	Het
Hsh2d	G	A	8: 72,200,460 (GRCm38)	D229N	probably benign	Het
Ifna16	T	A	4: 88,676,742 (GRCm38)	T39S	possibly damaging	Het
Kcnc3	G	A	7: 44,595,603 (GRCm38)	G439D	probably damaging	Het
Kif1c	T	C	11: 70,705,729 (GRCm38)	S257P	probably damaging	Het
Kng1	A	G	16: 23,079,760 (GRCm38)	K456E	probably damaging	Het
Lpxn	T	C	19: 12,824,050 (GRCm38)	L142P	probably damaging	Het
Med23	A	G	10: 24,892,667 (GRCm38)		probably benign	Het
Mks1	A	T	11: 87,861,111 (GRCm38)	D369V	probably benign	Het
Myo1d	A	T	11: 80,685,908 (GRCm38)	Y114N	probably damaging	Het
Npas2	A	G	1: 39,311,854 (GRCm38)	D126G	possibly damaging	Het
Olfr1314	T	C	2: 112,092,036 (GRCm38)	I222V	probably benign	Het
Olfr1420	A	G	19: 11,896,614 (GRCm38)	T198A	probably benign	Het
Olfr148	T	C	9: 39,613,696 (GRCm38)	I43T	probably damaging	Het
Onecut2	T	C	18: 64,341,580 (GRCm38)	F401L	possibly damaging	Het
Parp11	T	A	6: 127,474,293 (GRCm38)	F102Y	possibly damaging	Het
Pcnx	C	T	12: 81,918,798 (GRCm38)	H580Y	probably damaging	Het
Pde3b	A	G	7: 114,530,766 (GRCm38)	H852R	probably damaging	Het
Pou2af1	A	G	9: 51,233,208 (GRCm38)	T141A	probably benign	Het
Rgs22	A	C	15: 36,013,100 (GRCm38)	V1190G	probably benign	Het
Rnf112	T	C	11: 61,450,410 (GRCm38)	S450G	probably benign	Het
Rpgrip1l	A	T	8: 91,260,750 (GRCm38)	I893N	probably damaging	Het
Rps3a1	A	G	3: 86,138,527 (GRCm38)	V210A	probably benign	Het
Runx2	C	T	17: 44,735,337 (GRCm38)	A114T	possibly damaging	Het
Sardh	A	G	2: 27,197,690 (GRCm38)	V723A	possibly damaging	Het
Sdk2	C	T	11: 113,838,646 (GRCm38)		silent	Het
Secisbp2	A	G	13: 51,682,095 (GRCm38)	S742G	possibly damaging	Het
Selenow	G	T	7: 15,920,298 (GRCm38)		probably benign	Het
Slc30a4	A	G	2: 122,689,414 (GRCm38)	V226A	probably damaging	Het
Sntb2	A	G	8: 106,991,532 (GRCm38)	N291D	probably damaging	Het
Sorbs2	A	G	8: 45,769,829 (GRCm38)	T190A	probably damaging	Het
Specc1	T	A	11: 62,156,532 (GRCm38)	L909H	probably damaging	Het
Sprr1b	T	C	3: 92,437,107 (GRCm38)	*154W	probably null	Het
Taar4	T	A	10: 23,960,612 (GRCm38)	M40K	possibly damaging	Het
Ubr2	A	T	17: 47,000,823 (GRCm38)	L34H	probably damaging	Het
Ubxn6	T	C	17: 56,069,003 (GRCm38)	K386R	probably benign	Het
Vmn2r112	A	T	17: 22,602,844 (GRCm38)	T168S	probably benign	Het
Xirp2	A	T	2: 67,514,323 (GRCm38)	R2303*	probably null	Het
Zbtb14	C	A	17: 69,388,502 (GRCm38)	F398L	probably damaging	Het
Zfp13	G	T	17: 23,576,412 (GRCm38)	T395K	probably damaging	Het
Zfp281	A	G	1: 136,626,697 (GRCm38)	N471S	probably benign	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
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
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'- AGACAACTGCTTCTCTACCCAAAACTTG -3'
(R):5'- TGCCATTTTGTATAGCCTGCTATCACG -3'

Sequencing Primer
(F):5'- CCCTCACTTCAATATTGAGTCAAGA -3'
(R):5'- tcaagtgcccaagagattacc -3'

Posted On

2014-04-13