Mutagenetix > Incidental Mutation

Incidental Mutation 'R9721:Mgat5b'

730806

Institutional Source

Beutler Lab

Gene Symbol

Mgat5b

Ensembl Gene

ENSMUSG00000043857

Gene Name

mannoside acetylglucosaminyltransferase 5, isoenzyme B

Synonyms

GnT-IX

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9721 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116918863-116986948 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116966769 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 363 (L363P)

Ref Sequence

ENSEMBL: ENSMUSP00000099316 (fasta)

Gene Model

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

AlphaFold

Q765H6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103027
AA Change: L363P

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

SMART Domains

Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: L363P

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

probably benign
Transcript: ENSMUST00000136584

SMART Domains

Protein: ENSMUSP00000122276
Gene: ENSMUSG00000043857

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,419,283 (GRCm38)	Y120N	probably benign	Het
AAdacl4fm3	A	T	4: 144,703,372 (GRCm38)	V349D	possibly damaging	Het
Alox8	T	A	11: 69,197,085 (GRCm38)	H131L	probably benign	Het
Atp13a1	A	G	8: 69,799,437 (GRCm38)	E588G	probably damaging	Het
AU040320	G	A	4: 126,839,648 (GRCm38)	V654M	probably damaging	Het
Bicra	A	G	7: 15,979,176 (GRCm38)	L982P	probably damaging	Het
Cdh11	A	T	8: 102,679,625 (GRCm38)	V72E	probably damaging	Het
Cfap65	T	C	1: 74,919,342 (GRCm38)	T869A	probably benign	Het
Cplane1	A	G	15: 8,225,409 (GRCm38)	T27A	unknown	Het
Ddx19a	A	G	8: 110,978,475 (GRCm38)	F338S	probably damaging	Het
Dhrs7c	T	A	11: 67,815,078 (GRCm38)	V219E	probably damaging	Het
Dhx33	A	G	11: 71,001,598 (GRCm38)	V115A	probably damaging	Het
Dst	A	G	1: 34,192,785 (GRCm38)	D3153G	probably benign	Het
Ecpas	A	T	4: 58,850,938 (GRCm38)	S412T	probably benign	Het
Eif5b	T	C	1: 38,037,659 (GRCm38)		probably null	Het
Ep300	A	G	15: 81,608,315 (GRCm38)	N284S	unknown	Het
Fam83a	A	G	15: 57,986,117 (GRCm38)	N19S	probably benign	Het
Fgd5	A	T	6: 91,988,297 (GRCm38)	T504S	probably benign	Het
Flt4	G	A	11: 49,644,433 (GRCm38)		probably null	Het
Ggta1	G	T	2: 35,413,406 (GRCm38)	D91E	probably benign	Het
Gls	A	G	1: 52,212,268 (GRCm38)	V310A	probably damaging	Het
Gm5414	A	T	15: 101,628,147 (GRCm38)	C14*	probably null	Het
Gm9887	C	G	12: 69,371,855 (GRCm38)	A202P	unknown	Het
Ifi214	T	C	1: 173,527,913 (GRCm38)	T110A	possibly damaging	Het
Il4i1	A	G	7: 44,839,689 (GRCm38)	R293G	probably benign	Het
Itpr1	A	T	6: 108,406,102 (GRCm38)	T1464S	probably damaging	Het
Kif18a	T	C	2: 109,293,055 (GRCm38)	S225P	probably damaging	Het
Kif21a	A	T	15: 90,971,127 (GRCm38)	I678N	probably damaging	Het
Klf11	T	A	12: 24,660,241 (GRCm38)	D429E	probably damaging	Het
Kntc1	A	G	5: 123,801,885 (GRCm38)	T1581A	probably benign	Het
Lama2	T	C	10: 27,467,342 (GRCm38)	N45D	possibly damaging	Het
Lrrk1	T	C	7: 66,274,875 (GRCm38)	I1319V	probably damaging	Het
Ltbr	G	A	6: 125,307,385 (GRCm38)	R365W	probably damaging	Het
Malrd1	C	T	2: 15,696,827 (GRCm38)	T751I	unknown	Het
Matcap1	A	T	8: 105,283,188 (GRCm38)	D376E	probably benign	Het
Mphosph9	A	T	5: 124,298,675 (GRCm38)	S535R	possibly damaging	Het
Nckap5	C	T	1: 126,027,280 (GRCm38)	D512N	probably damaging	Het
Ngef	T	A	1: 87,479,135 (GRCm38)	D637V	probably damaging	Het
Nup93	T	C	8: 94,303,685 (GRCm38)	Y391H	probably damaging	Het
Or10j7	C	A	1: 173,184,348 (GRCm38)	V29F	probably benign	Het
Or4c110	T	C	2: 89,001,716 (GRCm38)	T191A		Het
Or5b3	A	T	19: 13,410,970 (GRCm38)	T134S	probably benign	Het
Pcdhb4	C	A	18: 37,309,852 (GRCm38)	D738E	possibly damaging	Het
Pfpl	G	C	19: 12,428,933 (GRCm38)	E183Q	probably damaging	Het
Phactr3	G	A	2: 178,256,250 (GRCm38)	E86K	probably damaging	Het
Psd	C	T	19: 46,323,189 (GRCm38)	D351N	probably benign	Het
Pzp	A	G	6: 128,495,191 (GRCm38)		probably null	Het
Rerg	T	A	6: 137,056,417 (GRCm38)	K106*	probably null	Het
Samd9l	T	C	6: 3,375,854 (GRCm38)	E469G	possibly damaging	Het
Smok2b	C	A	17: 13,234,978 (GRCm38)	Y8*	probably null	Het
Spata31e3	T	C	13: 50,246,652 (GRCm38)	Y546C	possibly damaging	Het
Spn	A	G	7: 127,136,265 (GRCm38)	S357P	probably benign	Het
Tek	T	G	4: 94,804,302 (GRCm38)	W216G	possibly damaging	Het
Trpm3	A	T	19: 22,889,398 (GRCm38)	H531L	probably benign	Het
Trpm6	A	G	19: 18,829,972 (GRCm38)	M1027V	probably benign	Het
Tsc2	G	A	17: 24,599,642 (GRCm38)	R1408*	probably null	Het
Tut4	T	A	4: 108,555,581 (GRCm38)	M1493K	probably benign	Het
Unc13b	A	G	4: 43,101,869 (GRCm38)	N155D	probably benign	Het
Vmn1r52	G	A	6: 90,179,026 (GRCm38)	C104Y	probably damaging	Het
Xylt1	A	T	7: 117,549,020 (GRCm38)	E273V	probably damaging	Het
Zc3h4	C	A	7: 16,434,845 (GRCm38)	Q1035K	unknown	Het
Zfp14	A	T	7: 30,039,184 (GRCm38)	S125R	probably benign	Het

Other mutations in Mgat5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Mgat5b	APN	11	116,931,662 (GRCm38)	missense	probably damaging	0.99
IGL01315:Mgat5b	APN	11	116,923,389 (GRCm38)	missense	probably damaging	1.00
IGL01432:Mgat5b	APN	11	116,973,376 (GRCm38)	missense	probably benign
IGL01480:Mgat5b	APN	11	116,978,452 (GRCm38)	missense	probably benign	0.00
IGL02573:Mgat5b	APN	11	116,977,714 (GRCm38)	missense	probably benign	0.01
IGL02627:Mgat5b	APN	11	116,983,616 (GRCm38)	missense	probably damaging	1.00
IGL03053:Mgat5b	APN	11	116,923,450 (GRCm38)	missense	possibly damaging	0.94
R0149:Mgat5b	UTSW	11	116,985,139 (GRCm38)	splice site	probably benign
R1175:Mgat5b	UTSW	11	116,977,796 (GRCm38)	missense	probably damaging	1.00
R1242:Mgat5b	UTSW	11	116,978,404 (GRCm38)	missense	probably benign	0.08
R1341:Mgat5b	UTSW	11	116,978,397 (GRCm38)	missense	probably benign	0.38
R1666:Mgat5b	UTSW	11	116,983,648 (GRCm38)	missense	probably benign	0.01
R1667:Mgat5b	UTSW	11	116,947,377 (GRCm38)	missense	probably benign	0.00
R1668:Mgat5b	UTSW	11	116,983,648 (GRCm38)	missense	probably benign	0.01
R1702:Mgat5b	UTSW	11	116,948,659 (GRCm38)	missense	possibly damaging	0.73
R1828:Mgat5b	UTSW	11	116,977,788 (GRCm38)	missense	probably damaging	1.00
R2019:Mgat5b	UTSW	11	116,947,348 (GRCm38)	missense	probably benign	0.07
R2102:Mgat5b	UTSW	11	116,919,429 (GRCm38)	start gained	probably benign
R2382:Mgat5b	UTSW	11	116,919,496 (GRCm38)	missense	probably damaging	0.99
R4995:Mgat5b	UTSW	11	116,974,199 (GRCm38)	critical splice donor site	probably null
R5028:Mgat5b	UTSW	11	116,985,029 (GRCm38)	missense	probably damaging	1.00
R5174:Mgat5b	UTSW	11	116,977,715 (GRCm38)	missense	probably benign	0.01
R5403:Mgat5b	UTSW	11	116,948,657 (GRCm38)	missense	probably benign	0.35
R5643:Mgat5b	UTSW	11	116,973,400 (GRCm38)	missense	probably damaging	0.99
R5644:Mgat5b	UTSW	11	116,973,400 (GRCm38)	missense	probably damaging	0.99
R7116:Mgat5b	UTSW	11	116,944,959 (GRCm38)	missense	possibly damaging	0.93
R7238:Mgat5b	UTSW	11	116,984,983 (GRCm38)	missense	probably benign	0.09
R7284:Mgat5b	UTSW	11	116,944,920 (GRCm38)	missense	probably damaging	0.96
R7440:Mgat5b	UTSW	11	116,968,445 (GRCm38)	nonsense	probably null
R7721:Mgat5b	UTSW	11	116,966,801 (GRCm38)	missense
R8179:Mgat5b	UTSW	11	116,931,728 (GRCm38)	missense	probably benign	0.01
R8229:Mgat5b	UTSW	11	116,947,387 (GRCm38)	missense	probably benign	0.11
R9091:Mgat5b	UTSW	11	116,968,443 (GRCm38)	missense
R9129:Mgat5b	UTSW	11	116,968,522 (GRCm38)	splice site	probably benign
R9270:Mgat5b	UTSW	11	116,968,443 (GRCm38)	missense
R9352:Mgat5b	UTSW	11	116,966,707 (GRCm38)	missense	probably benign	0.30
R9518:Mgat5b	UTSW	11	116,978,473 (GRCm38)	missense	probably benign	0.00
R9733:Mgat5b	UTSW	11	116,947,248 (GRCm38)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TTGATTCATCTCTGAGAGTGGC -3'
(R):5'- CAGTAATTCCTGGTTCTGGGTC -3'

Sequencing Primer
(F):5'- GGCTCTCACTGCCCCGC -3'
(R):5'- TCTACCCTGGGCTAGCTG -3'

Posted On

2022-10-06