Mutagenetix > Incidental Mutations

Incidental Mutation 'R1702:Mgat5b'

189822

Institutional Source

Beutler Lab

Gene Symbol

Mgat5b

Ensembl Gene

ENSMUSG00000043857

Gene Name

mannoside acetylglucosaminyltransferase 5, isoenzyme B

Synonyms

GnT-IX

MMRRC Submission

039735-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R1702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116918863-116986948 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116948659 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 334 (T334A)

Ref Sequence

ENSEMBL: ENSMUSP00000099316 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103027
AA Change: T334A

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: T334A

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: ENSMUST00000139905

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,289,028	C2126S	probably damaging	Het
Abca15	T	C	7: 120,382,702	V1080A	probably benign	Het
Abcg4	A	C	9: 44,275,073	V553G	probably damaging	Het
Ache	T	C	5: 137,290,989	V319A	possibly damaging	Het
Acsm2	T	A	7: 119,573,564	M134K	possibly damaging	Het
Ank2	A	T	3: 126,955,899	S494T	probably benign	Het
Asic3	A	T	5: 24,415,456	T202S	probably damaging	Het
Baiap3	T	A	17: 25,244,805	H886L	probably damaging	Het
Cidea	T	A	18: 67,366,421	I126K	probably damaging	Het
Cmklr1	T	G	5: 113,613,842	K366T	probably benign	Het
Cntrl	A	T	2: 35,171,836		probably null	Het
Crhr2	A	G	6: 55,092,535	F378S	probably damaging	Het
Deaf1	C	G	7: 141,314,954	R303T	probably damaging	Het
Dnah9	T	A	11: 66,085,195	N1343Y	possibly damaging	Het
Dopey2	A	G	16: 93,747,621	K99E	possibly damaging	Het
Dpp4	A	T	2: 62,386,429		probably null	Het
Dst	T	C	1: 34,167,340	V598A	probably damaging	Het
Ece2	C	T	16: 20,631,246	R136C	probably damaging	Het
Egf	C	A	3: 129,690,811	V453L	probably benign	Het
Egr3	T	A	14: 70,079,767	F342L	probably damaging	Het
Eif2ak2	A	T	17: 78,856,634	I434N	probably damaging	Het
Emc1	A	G	4: 139,375,201	T936A	probably damaging	Het
Fmod	A	T	1: 134,040,762	E180V	probably damaging	Het
Gabrg3	T	C	7: 56,985,100	T112A	probably damaging	Het
Gak	T	C	5: 108,606,376		probably null	Het
Gas2	T	A	7: 51,953,341		probably null	Het
Gm11639	C	T	11: 104,691,006	P58L	probably benign	Het
Gm2381	T	A	7: 42,820,231	Q156H	probably benign	Het
Golga2	T	A	2: 32,299,275	S273T	probably damaging	Het
Homez	T	A	14: 54,856,995	T419S	probably damaging	Het
Igfbp6	T	A	15: 102,148,182	Y184*	probably null	Het
Il11	A	G	7: 4,773,734	S86P	probably damaging	Het
Itgal	A	G	7: 127,305,025	N270S	probably benign	Het
Lama2	T	C	10: 27,190,529	R1119G	probably benign	Het
Lamp3	G	T	16: 19,676,072	N294K	probably benign	Het
Mars	T	C	10: 127,310,079	I113M	possibly damaging	Het
Mis18bp1	A	G	12: 65,161,744	I65T	probably benign	Het
Mmrn2	A	T	14: 34,397,914	N247I	probably benign	Het
Muc6	G	T	7: 141,650,487	N322K	probably damaging	Het
Mx2	A	G	16: 97,558,683	H551R	probably benign	Het
Mylk	T	A	16: 34,921,944	V942E	probably benign	Het
Nes	A	G	3: 87,975,979	E515G	probably benign	Het
Nfatc3	T	G	8: 106,092,160	S503R	probably damaging	Het
Nkain3	C	A	4: 20,158,339		probably null	Het
Noxa1	A	G	2: 25,092,584	V73A	probably damaging	Het
Nup160	A	T	2: 90,683,958	E83D	probably damaging	Het
Olfr1427	C	A	19: 12,099,166	V158L	probably benign	Het
Olfr205	C	A	16: 59,329,141	V123L	probably benign	Het
Olfr530	A	T	7: 140,372,742	Y289*	probably null	Het
Olfr923	A	G	9: 38,828,543	Y284C	probably damaging	Het
Plxnb2	A	G	15: 89,161,984		probably null	Het
Rundc3b	A	G	5: 8,512,318	V350A	probably benign	Het
Scn1a	C	T	2: 66,318,223	D993N	probably damaging	Het
Sec24c	G	T	14: 20,686,573	G226V	probably null	Het
Sept11	T	A	5: 93,156,924	I200N	probably damaging	Het
Shank3	G	T	15: 89,499,896	G14C	probably damaging	Het
Slc25a39	T	C	11: 102,406,626	D5G	possibly damaging	Het
Stoml3	A	T	3: 53,505,431	T169S	probably benign	Het
Taf1b	T	A	12: 24,509,126	I83K	possibly damaging	Het
Tarbp1	T	A	8: 126,428,218	Q1389L	probably damaging	Het
Thbs1	T	A	2: 118,113,442	D180E	probably benign	Het
Tmc5	T	A	7: 118,672,239	V925D	probably benign	Het
Tmem62	T	C	2: 120,979,227	V130A	probably damaging	Het
Tpp2	C	T	1: 43,990,548	P997L	probably damaging	Het
Trip12	A	T	1: 84,745,063	I127N	probably damaging	Het
Ttc37	A	G	13: 76,122,743	K153R	possibly damaging	Het
Upp2	T	C	2: 58,771,550	F142L	possibly damaging	Het
Usf3	C	T	16: 44,219,632	Q1492*	probably null	Het
Vcp	T	C	4: 42,990,840	D205G	probably damaging	Het
Vmn1r180	G	A	7: 23,952,969	V186I	possibly damaging	Het
Washc2	T	C	6: 116,229,306	S496P	probably damaging	Het
Wee2	T	C	6: 40,464,201	I480T	probably benign	Het
Xylt2	T	A	11: 94,668,745	H357L	probably damaging	Het
Zbed4	T	C	15: 88,780,853	S375P	probably damaging	Het
Zfp442	A	T	2: 150,409,180	Y266*	probably null	Het
Zfp600	A	G	4: 146,196,927	T722A	probably benign	Het
Zfp976	T	A	7: 42,616,000	H55L	possibly damaging	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
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
R7116:Mgat5b	UTSW	11	116944959	missense	possibly damaging	0.93
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

Predicted Primers

PCR Primer
(F):5'- TACAGACCTACGAGCTGCTTGCTG -3'
(R):5'- GCTGCTATGCAAACACGCTTCC -3'

Sequencing Primer
(F):5'- GAGCTGCTTGCTGCTCTC -3'
(R):5'- ATACAAACGTGTGTCTGCATGG -3'

Posted On

2014-05-14