Mutagenetix > Incidental Mutation

Incidental Mutation 'R9733:Mgat5b'

731568

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: 0.072) question?

Stock #

R9733 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116809689-116877774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116838074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 238 (S238P)

Ref Sequence

ENSEMBL: ENSMUSP00000099316 (fasta)

Gene Model

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

AlphaFold

Q765H6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103027
AA Change: S238P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: S238P

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: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 15,712,825 (GRCm39)		probably benign	Het
4930595D18Rik	T	A	12: 111,128,254 (GRCm39)		probably benign	Het
Adam34l	T	C	8: 44,079,186 (GRCm39)	N346S	possibly damaging	Het
Alpi	C	T	1: 87,028,516 (GRCm39)	A125T	probably benign	Het
Alppl2	T	A	1: 87,014,957 (GRCm39)	H468L	probably damaging	Het
Arhgef12	A	T	9: 42,901,294 (GRCm39)	L836*	probably null	Het
Arv1	T	C	8: 125,458,658 (GRCm39)	Y261H	probably damaging	Het
Atf6	C	T	1: 170,662,402 (GRCm39)	S286N	probably benign	Het
Atl3	G	A	19: 7,509,705 (GRCm39)	G478R	probably damaging	Het
Avil	C	T	10: 126,843,711 (GRCm39)	R184C	probably damaging	Het
Bcl6b	A	G	11: 70,119,323 (GRCm39)	I131T	probably damaging	Het
Bltp1	T	A	3: 37,102,732 (GRCm39)	M1437K		Het
Catsper3	T	C	13: 55,946,752 (GRCm39)	S150P	probably damaging	Het
Cd7	A	G	11: 120,928,637 (GRCm39)	S132P	probably benign	Het
Cfh	T	C	1: 140,016,533 (GRCm39)	D1142G	probably damaging	Het
Clca4b	T	G	3: 144,621,272 (GRCm39)	K601Q	probably benign	Het
Cp	A	G	3: 20,033,126 (GRCm39)	H651R	probably damaging	Het
Cyp2s1	T	A	7: 25,507,529 (GRCm39)	T307S	probably damaging	Het
Dcaf11	A	G	14: 55,803,170 (GRCm39)	D328G	probably damaging	Het
Eapp	A	T	12: 54,739,741 (GRCm39)	S25R	probably damaging	Het
Ebag9	T	A	15: 44,491,033 (GRCm39)		probably null	Het
Exog	G	A	9: 119,291,586 (GRCm39)	E288K	possibly damaging	Het
Fads2	A	T	19: 10,047,940 (GRCm39)	Y265N	probably damaging	Het
Fam234b	T	A	6: 135,194,008 (GRCm39)	S220R	possibly damaging	Het
Fcgbp	T	A	7: 27,803,012 (GRCm39)	C1539S	probably damaging	Het
Fcsk	T	C	8: 111,615,563 (GRCm39)	T589A	probably benign	Het
Fv1	C	T	4: 147,954,621 (GRCm39)	R396W	probably damaging	Het
Fv1	T	C	4: 147,954,654 (GRCm39)	F407L	probably benign	Het
Glp2r	T	C	11: 67,648,367 (GRCm39)	T112A	probably benign	Het
Hydin	T	C	8: 111,262,011 (GRCm39)	I2704T	probably benign	Het
Ighm	T	A	12: 113,386,097 (GRCm39)	E84D	probably benign	Het
Ikzf5	A	G	7: 130,994,012 (GRCm39)	V205A	probably benign	Het
Kcnt1	G	T	2: 25,797,351 (GRCm39)	V844L	probably benign	Het
Kif2a	A	C	13: 107,106,304 (GRCm39)	S528R	probably damaging	Het
Klhl29	G	A	12: 5,190,641 (GRCm39)	T118M	probably damaging	Het
Krt4	C	A	15: 101,827,564 (GRCm39)	G492C	unknown	Het
Lama1	T	A	17: 68,116,940 (GRCm39)	I2441N		Het
Lin7a	T	C	10: 107,247,905 (GRCm39)	V192A	possibly damaging	Het
Marchf8	T	A	6: 116,378,990 (GRCm39)	V308D	probably damaging	Het
Mrps25	A	G	6: 92,155,715 (GRCm39)	S73P	probably damaging	Het
Muc6	G	T	7: 141,216,310 (GRCm39)	P2788T	unknown	Het
Ncf1	T	C	5: 134,250,899 (GRCm39)	T347A	probably benign	Het
Ndufaf4	T	C	4: 24,903,177 (GRCm39)	M122T	probably benign	Het
Nfil3	C	T	13: 53,121,591 (GRCm39)	A438T	probably damaging	Het
Noc2l	T	G	4: 156,328,022 (GRCm39)	I504S	probably damaging	Het
Nphs1	T	C	7: 30,166,955 (GRCm39)	C735R	probably damaging	Het
Or10g6	A	T	9: 39,934,171 (GRCm39)	S161C	probably benign	Het
Or2y10	T	C	11: 49,454,961 (GRCm39)	L71P	probably damaging	Het
Or5d38	C	A	2: 87,955,000 (GRCm39)	V110L	probably damaging	Het
Or6b9	A	C	7: 106,555,846 (GRCm39)	L99R	possibly damaging	Het
Pcdhac1	A	G	18: 37,225,506 (GRCm39)	H773R	probably benign	Het
Pcnt	A	G	10: 76,237,314 (GRCm39)	V1324A	probably benign	Het
Pcsk4	T	C	10: 80,158,034 (GRCm39)	Y568C	probably damaging	Het
Pdlim1	A	T	19: 40,219,040 (GRCm39)	M197K	probably damaging	Het
Plekho1	C	T	3: 95,903,091 (GRCm39)	G7S	probably benign	Het
Pramel17	A	G	4: 101,692,965 (GRCm39)	V345A	possibly damaging	Het
Prl7d1	A	C	13: 27,898,339 (GRCm39)	S57A	probably benign	Het
Prpf3	A	G	3: 95,741,512 (GRCm39)	V548A	possibly damaging	Het
Prss56	C	T	1: 87,111,219 (GRCm39)	P2L	possibly damaging	Het
Ric1	A	G	19: 29,580,030 (GRCm39)	D1277G	possibly damaging	Het
Rnf19b	T	A	4: 128,977,812 (GRCm39)	D676E	probably damaging	Het
Rph3a	T	A	5: 121,100,521 (GRCm39)	T126S	probably benign	Het
Sh3gl3	T	C	7: 81,917,562 (GRCm39)		probably null	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc35f2	T	C	9: 53,708,385 (GRCm39)	V126A	probably benign	Het
Snrnp200	A	T	2: 127,068,240 (GRCm39)	Q860L	probably damaging	Het
Srbd1	T	C	17: 86,422,711 (GRCm39)	N435S	probably damaging	Het
Tab2	A	G	10: 7,795,214 (GRCm39)	S349P	possibly damaging	Het
Tie1	A	T	4: 118,330,183 (GRCm39)	W1040R	probably null	Het
Tnni3k	A	T	3: 154,562,244 (GRCm39)	Y678N	probably damaging	Het
Trav12-3	T	C	14: 53,859,474 (GRCm39)	V40A	possibly damaging	Het
Ttn	G	A	2: 76,576,379 (GRCm39)	S24838L	probably damaging	Het
Ttn	A	G	2: 76,725,660 (GRCm39)	W6158R	unknown	Het
Vegfa	T	C	17: 46,335,401 (GRCm39)	S298G	probably damaging	Het
Zer1	T	C	2: 29,997,643 (GRCm39)	K421R	probably benign	Het
Zfp959	C	A	17: 56,204,866 (GRCm39)	T301N	probably benign	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
R5174:Mgat5b	UTSW	11	116,868,541 (GRCm39)	missense	probably benign	0.01
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

Predicted Primers

PCR Primer
(F):5'- ATTCAGGGCTGATTGGGTCC -3'
(R):5'- TCCAAGCACTCCCTGAAAGG -3'

Sequencing Primer
(F):5'- CTAGAGTGAGTATTGGAAGGTGC -3'
(R):5'- AGGATAACATACTTGCTTCTGGTCC -3'

Posted On

2022-11-14