Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Mgat5b'

551788

Institutional Source

Beutler Lab

Gene Symbol

Mgat5b

Ensembl Gene

ENSMUSG00000043857

Gene Name

mannoside acetylglucosaminyltransferase 5, isoenzyme B

Synonyms

GnT-IX

MMRRC Submission

045207-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R7116 (G1)

Quality Score

218.009

Status

Not validated

Chromosome

Chromosomal Location

116918863-116986948 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116944959 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 142 (S142C)

Ref Sequence

ENSEMBL: ENSMUSP00000099316 (fasta)

Gene Model

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

AlphaFold

Q765H6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103027
AA Change: S142C

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: S142C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	Het

Other mutations in Mgat5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Mgat5b	APN	11	116931662	missense	probably damaging	0.99
IGL01315:Mgat5b	APN	11	116923389	missense	probably damaging	1.00
IGL01432:Mgat5b	APN	11	116973376	missense	probably benign
IGL01480:Mgat5b	APN	11	116978452	missense	probably benign	0.00
IGL02573:Mgat5b	APN	11	116977714	missense	probably benign	0.01
IGL02627:Mgat5b	APN	11	116983616	missense	probably damaging	1.00
IGL03053:Mgat5b	APN	11	116923450	missense	possibly damaging	0.94
R0149:Mgat5b	UTSW	11	116985139	splice site	probably benign
R1175:Mgat5b	UTSW	11	116977796	missense	probably damaging	1.00
R1242:Mgat5b	UTSW	11	116978404	missense	probably benign	0.08
R1341:Mgat5b	UTSW	11	116978397	missense	probably benign	0.38
R1666:Mgat5b	UTSW	11	116983648	missense	probably benign	0.01
R1667:Mgat5b	UTSW	11	116947377	missense	probably benign	0.00
R1668:Mgat5b	UTSW	11	116983648	missense	probably benign	0.01
R1702:Mgat5b	UTSW	11	116948659	missense	possibly damaging	0.73
R1828:Mgat5b	UTSW	11	116977788	missense	probably damaging	1.00
R2019:Mgat5b	UTSW	11	116947348	missense	probably benign	0.07
R2102:Mgat5b	UTSW	11	116919429	start gained	probably benign
R2382:Mgat5b	UTSW	11	116919496	missense	probably damaging	0.99
R4995:Mgat5b	UTSW	11	116974199	critical splice donor site	probably null
R5028:Mgat5b	UTSW	11	116985029	missense	probably damaging	1.00
R5174:Mgat5b	UTSW	11	116977715	missense	probably benign	0.01
R5403:Mgat5b	UTSW	11	116948657	missense	probably benign	0.35
R5643:Mgat5b	UTSW	11	116973400	missense	probably damaging	0.99
R5644:Mgat5b	UTSW	11	116973400	missense	probably damaging	0.99
R7238:Mgat5b	UTSW	11	116984983	missense	probably benign	0.09
R7284:Mgat5b	UTSW	11	116944920	missense	probably damaging	0.96
R7440:Mgat5b	UTSW	11	116968445	nonsense	probably null
R7721:Mgat5b	UTSW	11	116966801	missense
R8179:Mgat5b	UTSW	11	116931728	missense	probably benign	0.01
R8229:Mgat5b	UTSW	11	116947387	missense	probably benign	0.11
R9091:Mgat5b	UTSW	11	116968443	missense
R9129:Mgat5b	UTSW	11	116968522	splice site	probably benign
R9270:Mgat5b	UTSW	11	116968443	missense
R9352:Mgat5b	UTSW	11	116966707	missense	probably benign	0.30
R9518:Mgat5b	UTSW	11	116978473	missense	probably benign	0.00
R9721:Mgat5b	UTSW	11	116966769	missense	probably damaging	1.00
R9733:Mgat5b	UTSW	11	116947248	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CAGAAGTGTGCTTTCCTGCTG -3'
(R):5'- TTTCCTGAGAACGGCAGAGG -3'

Sequencing Primer
(F):5'- TCCTGCTGTGTCCGAGG -3'
(R):5'- TCTAGCTTTTCCCAAACCAAAAGG -3'

Posted On

2019-05-15