Mutagenetix > Incidental Mutation

Incidental Mutation 'R5174:Mgat5b'

399048

Institutional Source

Beutler Lab

Gene Symbol

Mgat5b

Ensembl Gene

ENSMUSG00000043857

Gene Name

mannoside acetylglucosaminyltransferase 5, isoenzyme B

Synonyms

GnT-IX

MMRRC Submission

042754-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5174 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116809689-116877774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116868541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 488 (Y488F)

Ref Sequence

ENSEMBL: ENSMUSP00000099316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103027]

AlphaFold

Q765H6

Predicted Effect

probably benign
Transcript: ENSMUST00000103027
AA Change: Y488F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: Y488F

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Glyco_transf_18	184	777	3.5e-269	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126757

Predicted Effect

unknown
Transcript: ENSMUST00000136584
AA Change: Y114F

SMART Domains

Protein: ENSMUSP00000122276
Gene: ENSMUSG00000043857
AA Change: Y114F

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_18	1	214	3e-116	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139905

Meta Mutation Damage Score

0.0776

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit low levels of O-man-linked beta1,6-branched glycans. Mice homozygous for a different knock-out allele exhibit decreased susceptibility to cuprizone induced injury. [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
Ank3	T	C	10: 69,728,209 (GRCm39)	S632P	probably damaging	Het
Arhgef16	G	A	4: 154,366,504 (GRCm39)	R451W	probably damaging	Het
Asxl3	A	T	18: 22,656,172 (GRCm39)	D1394V	probably benign	Het
Atp2a3	T	A	11: 72,871,041 (GRCm39)	I545N	probably damaging	Het
Cadps2	T	A	6: 23,287,742 (GRCm39)	Y1181F	probably damaging	Het
Camkmt	C	A	17: 85,759,665 (GRCm39)	F268L	probably benign	Het
Casp14	C	T	10: 78,551,225 (GRCm39)	G20D	possibly damaging	Het
Celf1	T	C	2: 90,831,353 (GRCm39)	C61R	probably damaging	Het
Cenpp	CAAACCTGAAAA	CAAA	13: 49,618,258 (GRCm39)		probably null	Het
Cers3	A	T	7: 66,434,616 (GRCm39)	K203M	probably damaging	Het
Clip4	T	C	17: 72,117,957 (GRCm39)	F334S	probably damaging	Het
Cyp2b13	T	A	7: 25,788,118 (GRCm39)	D415E	possibly damaging	Het
Decr2	A	T	17: 26,306,443 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,352,768 (GRCm39)		probably null	Het
Dnah7b	G	A	1: 46,282,509 (GRCm39)	A2881T	possibly damaging	Het
Dnaja3	A	G	16: 4,502,161 (GRCm39)	H55R	probably benign	Het
Dnajc11	T	C	4: 152,064,441 (GRCm39)	F531L	probably damaging	Het
Efcab6	A	G	15: 83,938,687 (GRCm39)	F10L	probably benign	Het
Epm2aip1	T	C	9: 111,102,455 (GRCm39)	F476S	probably damaging	Het
Fat3	T	C	9: 15,910,866 (GRCm39)	N1712S	probably damaging	Het
Flnc	T	C	6: 29,448,893 (GRCm39)	V1343A	possibly damaging	Het
Fsip2	C	T	2: 82,811,085 (GRCm39)	P2468L	probably benign	Het
Gm5798	A	G	14: 41,070,620 (GRCm39)	H10R	possibly damaging	Het
Gm7168	A	G	17: 14,168,717 (GRCm39)	Y28C	probably damaging	Het
Gtpbp6	G	A	5: 110,255,983 (GRCm39)	R19C	possibly damaging	Het
Gucy2e	A	G	11: 69,127,392 (GRCm39)	F27S	probably benign	Het
Inhca	C	T	9: 103,159,755 (GRCm39)		probably null	Het
Krba1	A	G	6: 48,389,229 (GRCm39)	E548G	probably damaging	Het
Ltbr	A	G	6: 125,286,500 (GRCm39)	S229P	probably benign	Het
Mia3	T	A	1: 183,112,348 (GRCm39)	K475*	probably null	Het
Mrpl53	C	T	6: 83,086,638 (GRCm39)	T114M	possibly damaging	Het
Mrps35	T	C	6: 146,961,709 (GRCm39)	Y195H	possibly damaging	Het
Muc4	A	T	16: 32,570,556 (GRCm39)	I539F	possibly damaging	Het
Nedd1	T	A	10: 92,547,074 (GRCm39)	T150S	possibly damaging	Het
Nox4	T	G	7: 86,972,974 (GRCm39)	I327S	probably benign	Het
Nrk	C	G	X: 137,887,528 (GRCm39)	A1018G	probably benign	Het
Or4c102	T	A	2: 88,422,992 (GRCm39)	N281K	probably damaging	Het
Or4d5	T	C	9: 40,012,043 (GRCm39)	T248A	possibly damaging	Het
Or52ae7	T	A	7: 103,119,610 (GRCm39)	F121L	probably benign	Het
Or5w19	T	A	2: 87,698,755 (GRCm39)	V140E	possibly damaging	Het
Pdzd2	G	A	15: 12,372,600 (GRCm39)	P2512S	probably benign	Het
Ptgis	T	A	2: 167,045,390 (GRCm39)		probably null	Het
Rnf170	T	A	8: 26,619,196 (GRCm39)	M140K	probably benign	Het
Scaf4	A	T	16: 90,044,062 (GRCm39)	I637K	unknown	Het
Sdccag8	A	T	1: 176,672,916 (GRCm39)	T270S	probably damaging	Het
Sec24d	T	C	3: 123,158,575 (GRCm39)	C1022R	probably damaging	Het
Sec63	T	C	10: 42,705,077 (GRCm39)		probably benign	Het
Serpinb3d	C	G	1: 107,006,228 (GRCm39)	E287Q	possibly damaging	Het
Silc1	A	T	12: 27,192,027 (GRCm39)		noncoding transcript	Het
Smarcd2	A	G	11: 106,157,871 (GRCm39)		probably benign	Het
Sox15	A	G	11: 69,546,545 (GRCm39)	Y116C	probably damaging	Het
Spag16	T	C	1: 70,532,955 (GRCm39)	S545P	probably damaging	Het
Ssc5d	C	A	7: 4,930,970 (GRCm39)	T184N	possibly damaging	Het
St6galnac2	A	T	11: 116,572,773 (GRCm39)	F228I	probably damaging	Het
Syne1	T	C	10: 4,991,490 (GRCm39)	N8408S	probably damaging	Het
Trank1	A	C	9: 111,194,627 (GRCm39)	T884P	probably benign	Het
Ubr3	T	A	2: 69,839,506 (GRCm39)	L1540H	probably damaging	Het
Ugt2b37	C	A	5: 87,399,739 (GRCm39)	M256I	probably benign	Het
Vmn2r69	G	A	7: 85,064,739 (GRCm39)	T49I	possibly damaging	Het
Vmn2r72	T	A	7: 85,387,048 (GRCm39)	I839L	probably benign	Het
Zcrb1	A	G	15: 93,285,456 (GRCm39)		probably null	Het
Zfp319	A	T	8: 96,054,797 (GRCm39)		probably null	Het
Zfp592	T	C	7: 80,688,073 (GRCm39)	S1000P	probably damaging	Het
Zfp938	T	C	10: 82,061,838 (GRCm39)	N261D	possibly damaging	Het
Zfp957	A	G	14: 79,450,828 (GRCm39)	S324P	unknown	Het
Zswim6	G	T	13: 107,863,216 (GRCm39)		noncoding transcript	Het

Other mutations in Mgat5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Mgat5b	APN	11	116,822,488 (GRCm39)	missense	probably damaging	0.99
IGL01315:Mgat5b	APN	11	116,814,215 (GRCm39)	missense	probably damaging	1.00
IGL01432:Mgat5b	APN	11	116,864,202 (GRCm39)	missense	probably benign
IGL01480:Mgat5b	APN	11	116,869,278 (GRCm39)	missense	probably benign	0.00
IGL02573:Mgat5b	APN	11	116,868,540 (GRCm39)	missense	probably benign	0.01
IGL02627:Mgat5b	APN	11	116,874,442 (GRCm39)	missense	probably damaging	1.00
IGL03053:Mgat5b	APN	11	116,814,276 (GRCm39)	missense	possibly damaging	0.94
R0149:Mgat5b	UTSW	11	116,875,965 (GRCm39)	splice site	probably benign
R1175:Mgat5b	UTSW	11	116,868,622 (GRCm39)	missense	probably damaging	1.00
R1242:Mgat5b	UTSW	11	116,869,230 (GRCm39)	missense	probably benign	0.08
R1341:Mgat5b	UTSW	11	116,869,223 (GRCm39)	missense	probably benign	0.38
R1666:Mgat5b	UTSW	11	116,874,474 (GRCm39)	missense	probably benign	0.01
R1667:Mgat5b	UTSW	11	116,838,203 (GRCm39)	missense	probably benign	0.00
R1668:Mgat5b	UTSW	11	116,874,474 (GRCm39)	missense	probably benign	0.01
R1702:Mgat5b	UTSW	11	116,839,485 (GRCm39)	missense	possibly damaging	0.73
R1828:Mgat5b	UTSW	11	116,868,614 (GRCm39)	missense	probably damaging	1.00
R2019:Mgat5b	UTSW	11	116,838,174 (GRCm39)	missense	probably benign	0.07
R2102:Mgat5b	UTSW	11	116,810,255 (GRCm39)	start gained	probably benign
R2382:Mgat5b	UTSW	11	116,810,322 (GRCm39)	missense	probably damaging	0.99
R4995:Mgat5b	UTSW	11	116,865,025 (GRCm39)	critical splice donor site	probably null
R5028:Mgat5b	UTSW	11	116,875,855 (GRCm39)	missense	probably damaging	1.00
R5403:Mgat5b	UTSW	11	116,839,483 (GRCm39)	missense	probably benign	0.35
R5643:Mgat5b	UTSW	11	116,864,226 (GRCm39)	missense	probably damaging	0.99
R5644:Mgat5b	UTSW	11	116,864,226 (GRCm39)	missense	probably damaging	0.99
R7116:Mgat5b	UTSW	11	116,835,785 (GRCm39)	missense	possibly damaging	0.93
R7238:Mgat5b	UTSW	11	116,875,809 (GRCm39)	missense	probably benign	0.09
R7284:Mgat5b	UTSW	11	116,835,746 (GRCm39)	missense	probably damaging	0.96
R7440:Mgat5b	UTSW	11	116,859,271 (GRCm39)	nonsense	probably null
R7721:Mgat5b	UTSW	11	116,857,627 (GRCm39)	missense
R8179:Mgat5b	UTSW	11	116,822,554 (GRCm39)	missense	probably benign	0.01
R8229:Mgat5b	UTSW	11	116,838,213 (GRCm39)	missense	probably benign	0.11
R9091:Mgat5b	UTSW	11	116,859,269 (GRCm39)	missense
R9129:Mgat5b	UTSW	11	116,859,348 (GRCm39)	splice site	probably benign
R9270:Mgat5b	UTSW	11	116,859,269 (GRCm39)	missense
R9352:Mgat5b	UTSW	11	116,857,533 (GRCm39)	missense	probably benign	0.30
R9518:Mgat5b	UTSW	11	116,869,299 (GRCm39)	missense	probably benign	0.00
R9721:Mgat5b	UTSW	11	116,857,595 (GRCm39)	missense	probably damaging	1.00
R9733:Mgat5b	UTSW	11	116,838,074 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GTGTCCATGGCCTTCTTCAG -3'
(R):5'- GGTAGATGCCTGCCATTCAG -3'

Sequencing Primer
(F):5'- AAGCCTCAGGTTTAGCTCAG -3'
(R):5'- CCATTCAGGGCTGTGACC -3'

Posted On

2016-07-06