Mutagenetix > Incidental Mutation

Incidental Mutation 'R0127:Mgea5'

21497

Institutional Source

Beutler Lab

Gene Symbol

Mgea5

Ensembl Gene

ENSMUSG00000025220

Gene Name

meningioma expressed antigen 5 (hyaluronidase)

Synonyms

2810009A20Rik, Hy5, 5830447M11Rik, 4833427O07Rik

MMRRC Submission

038412-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0127 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

45750261-45783520 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45771888 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 277 (I277N)

Ref Sequence

ENSEMBL: ENSMUSP00000026243 (fasta)

Gene Model

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

AlphaFold

Q9EQQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000026243
AA Change: I277N

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

SMART Domains

Protein: ENSMUSP00000026243
Gene: ENSMUSG00000025220
AA Change: I277N

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

0.9314

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

99% (85/86)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,707,454	T152A	probably benign	Het
Abca1	T	C	4: 53,067,155	I1351V	probably benign	Het
Acap1	A	T	11: 69,887,217		probably benign	Het
Als2cl	T	C	9: 110,891,867	L521P	probably damaging	Het
Ankrd50	T	C	3: 38,456,235	D661G	probably benign	Het
Atp6v1b2	T	A	8: 69,103,460	N262K	probably damaging	Het
Baz1a	T	A	12: 54,898,706	D1288V	possibly damaging	Het
Bbs1	A	T	19: 4,895,029	D371E	probably benign	Het
Bphl	A	G	13: 34,064,046		probably benign	Het
Caskin2	C	A	11: 115,800,994	R988S	probably damaging	Het
Cbr1	C	A	16: 93,609,987	T197N	probably damaging	Het
Ccdc88c	T	C	12: 100,935,740	E1213G	possibly damaging	Het
Ccna1	A	G	3: 55,049,748	F83L	probably damaging	Het
Cep290	T	A	10: 100,536,925		probably benign	Het
Cep89	C	A	7: 35,428,262	T543K	possibly damaging	Het
Cmtm7	T	C	9: 114,781,670	M45V	probably benign	Het
Col16a1	T	A	4: 130,052,857	V91E	probably damaging	Het
Csmd3	T	C	15: 47,981,930	N920S	probably benign	Het
Cyp26b1	A	G	6: 84,577,208		probably benign	Het
Dao	T	A	5: 114,019,963	H215Q	probably damaging	Het
Dido1	T	C	2: 180,671,824	D885G	probably benign	Het
Dlx4	T	G	11: 95,141,229	M240L	probably benign	Het
Dnah5	C	T	15: 28,294,925	P1351L	probably damaging	Het
Dnah6	T	A	6: 73,038,734		probably benign	Het
Dock5	A	T	14: 67,846,042	D139E	probably benign	Het
Fam234b	T	C	6: 135,218,823		probably benign	Het
Fat2	T	C	11: 55,289,286	T1410A	probably benign	Het
Fsip2	T	A	2: 82,984,925	N3667K	probably benign	Het
Gm14085	T	A	2: 122,517,069		probably null	Het
Gm5114	T	C	7: 39,408,456	I580V	probably benign	Het
Hapln1	A	T	13: 89,607,869	Y264F	probably benign	Het
Heatr5a	A	G	12: 51,925,405	V694A	probably benign	Het
Hps1	A	G	19: 42,771,111		probably benign	Het
Igsf9b	G	T	9: 27,334,385	R1216L	possibly damaging	Het
Il4ra	G	T	7: 125,569,070	C87F	probably damaging	Het
Kmt5b	A	G	19: 3,786,465	M1V	probably null	Het
Krit1	A	G	5: 3,822,178	E401G	probably damaging	Het
Lamp1	T	C	8: 13,174,491	V385A	probably damaging	Het
Ly6g5b	A	G	17: 35,114,591	Y82H	probably damaging	Het
Mapre2	A	G	18: 23,804,175	I25V	probably benign	Het
Mep1a	A	G	17: 43,497,886		probably benign	Het
Mkrn1	A	G	6: 39,399,275	W466R	probably benign	Het
Muc2	C	A	7: 141,748,954	F11L	probably benign	Het
Nebl	T	A	2: 17,392,983	M501L	probably benign	Het
Olfr1151	A	G	2: 87,857,483	I103V	probably benign	Het
Olfr1179	A	G	2: 88,402,355	V193A	probably benign	Het
Olfr744	A	G	14: 50,618,332	I37V	probably benign	Het
Olfr951	A	G	9: 39,393,942	I50M	probably benign	Het
Pkd1l2	A	G	8: 117,050,048		probably benign	Het
Pkhd1l1	A	G	15: 44,554,605	M2886V	probably damaging	Het
Pop5	T	A	5: 115,240,171	L58H	probably damaging	Het
Prkch	C	A	12: 73,721,787	H444N	possibly damaging	Het
Reln	T	C	5: 22,004,136	D1148G	probably damaging	Het
Rffl	G	A	11: 82,812,632	T120M	probably damaging	Het
Rmdn2	A	T	17: 79,670,569	S320C	probably damaging	Het
Rrbp1	C	T	2: 143,989,944	R101H	probably benign	Het
Rtf1	G	A	2: 119,726,743	R443H	probably damaging	Het
Serac1	G	T	17: 6,048,840	L559I	probably damaging	Het
Slc12a1	A	G	2: 125,219,762	R958G	probably damaging	Het
Slc15a3	T	A	19: 10,855,986	W456R	probably damaging	Het
Slc35f5	C	T	1: 125,576,205	P290L	probably damaging	Het
Slc35g2	C	T	9: 100,553,117	R167Q	probably benign	Het
Spag4	T	C	2: 156,068,042	V302A	probably damaging	Het
Spire2	A	C	8: 123,358,097		probably benign	Het
Sptbn2	G	T	19: 4,724,744	V142L	probably damaging	Het
Syt17	T	A	7: 118,409,941	D352V	probably damaging	Het
Tarsl2	A	T	7: 65,664,969	D425V	probably benign	Het
Tctex1d1	T	C	4: 103,002,452		probably benign	Het
Thsd7a	A	G	6: 12,554,908	S326P	probably benign	Het
Tnpo2	T	C	8: 85,040,628	S64P	probably damaging	Het
Tonsl	G	T	15: 76,633,485	A678D	probably benign	Het
Trim12c	A	G	7: 104,340,906		probably null	Het
Tsc22d1	A	G	14: 76,418,981	T885A	possibly damaging	Het
Ttn	T	C	2: 76,742,198	D26117G	probably damaging	Het
Ttn	T	A	2: 76,877,011		probably benign	Het
Ugt3a1	T	C	15: 9,306,256	F164L	probably benign	Het
Vmn2r89	A	G	14: 51,455,703	N170S	probably damaging	Het
Vrk2	G	T	11: 26,534,313		probably benign	Het
Wt1	C	A	2: 105,133,457	D207E	probably damaging	Het
Zbtb46	G	A	2: 181,411,815	A368V	probably benign	Het
Zc3h13	A	T	14: 75,323,254	D428V	unknown	Het
Zcchc8	C	G	5: 123,707,337	G320A	probably damaging	Het
Znfx1	T	C	2: 167,044,210	E810G	possibly damaging	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
IGL02971:Mgea5	APN	19	45762243	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

Predicted Primers

PCR Primer
(F):5'- GTGGCAAGGGTGTGTATGGCAA -3'
(R):5'- CCCAGCGTATTTCATCTCGTTACAGTTT -3'

Sequencing Primer
(F):5'- AGGGTGTGTATGGCAACGTAG -3'
(R):5'- gagccatctcaccaactcc -3'

Posted On

2013-04-11