Mutagenetix > Incidental Mutation

Incidental Mutation 'R7440:Mgat5b'

576912

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: 0.083) question?

Stock #

R7440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116918863-116986948 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 116968445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 34 (Y34*)

Gene Model

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

AlphaFold

Q765H6

Predicted Effect

probably null
Transcript: ENSMUST00000103027
AA Change: Y406*

SMART Domains

Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: Y406*

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 null
Transcript: ENSMUST00000136584
AA Change: Y34*

SMART Domains

Protein: ENSMUSP00000122276
Gene: ENSMUSG00000043857
AA Change: Y34*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	A	G	9: 50,764,913	V35A	probably benign	Het
9230104L09Rik	A	C	2: 148,846,991	C109W	probably damaging	Het
Acadm	G	A	3: 153,922,989	T403I	probably damaging	Het
Adat1	A	T	8: 111,989,898	M64K	probably damaging	Het
Adcy2	C	T	13: 68,796,667	V199M	probably damaging	Het
Ankrd13a	T	C	5: 114,803,575	S508P	possibly damaging	Het
Ap1g1	T	A	8: 109,802,724		probably null	Het
Bicral	C	T	17: 46,825,784	G167R	probably damaging	Het
Ccser2	T	C	14: 36,898,217	K727E	possibly damaging	Het
Cep350	T	G	1: 155,940,772	K332N	probably damaging	Het
Chd5	A	G	4: 152,384,651	N1811S	probably benign	Het
Chpf	A	T	1: 75,475,601	V565D	probably damaging	Het
Clcn6	A	T	4: 148,014,195	L489H	probably damaging	Het
Cntln	C	A	4: 85,063,216	T877K	possibly damaging	Het
Cog4	T	C	8: 110,879,706	V630A	probably benign	Het
Col6a5	G	T	9: 105,881,431	S2192*	probably null	Het
Cry2	G	A	2: 92,413,638	R397W	probably damaging	Het
Cyp1b1	T	C	17: 79,713,557	N252S	probably damaging	Het
Dhx9	T	C	1: 153,481,231	I91V	probably benign	Het
Dnajb6	G	A	5: 29,757,859	A256T	possibly damaging	Het
Epm2a	T	G	10: 11,390,875	Y121*	probably null	Het
Erlec1	T	C	11: 30,950,818	I117V	possibly damaging	Het
Exoc8	T	C	8: 124,895,781	M616V	probably benign	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Fuz	T	C	7: 44,896,572	L46P	probably damaging	Het
Gm15319	C	T	8: 20,356,948	S254N	unknown	Het
Insc	T	C	7: 114,845,043	S422P	possibly damaging	Het
Intu	A	G	3: 40,697,551	I813V	probably benign	Het
Jak3	T	A	8: 71,680,718	S352T	probably benign	Het
Klf11	T	C	12: 24,655,491	S315P	probably benign	Het
Lrrc63	T	C	14: 75,121,013	N400D	possibly damaging	Het
Lrrk1	T	C	7: 66,290,854	D760G	probably damaging	Het
Macf1	A	T	4: 123,455,446	L3976*	probably null	Het
Map7	C	T	10: 20,261,859	A259V	probably damaging	Het
Meioc	T	A	11: 102,674,237	D170E	possibly damaging	Het
Mgst1	A	G	6: 138,150,844	K68R	probably benign	Het
Miga1	T	A	3: 152,338,046		probably null	Het
Mrps33	G	A	6: 39,802,479	P94L	probably damaging	Het
Ncapg2	G	T	12: 116,450,413	G1068C	possibly damaging	Het
Ndufaf7	C	T	17: 78,942,117	H148Y	probably damaging	Het
Nkx6-3	A	T	8: 23,153,754	D57V	probably damaging	Het
Nlrp1a	T	C	11: 71,092,324	D1272G	probably damaging	Het
Oit3	T	C	10: 59,429,570	N291S	probably damaging	Het
Olfr362	A	T	2: 37,105,169	H160Q	possibly damaging	Het
Pld1	T	G	3: 28,041,270	S251A	probably benign	Het
Ppfibp1	T	C	6: 147,019,503	S580P	probably benign	Het
Prdx6b	A	T	2: 80,293,216	D123V	probably damaging	Het
Ptprs	A	G	17: 56,424,256	L1050P	possibly damaging	Het
Rcc1	A	C	4: 132,337,799	S138A	probably damaging	Het
Rimbp3	G	T	16: 17,213,201	R1496S	possibly damaging	Het
Sacs	T	C	14: 61,191,605	V371A	probably benign	Het
Sfxn4	A	G	19: 60,842,204	L260P	possibly damaging	Het
Slc17a1	G	A	13: 23,878,483	S211N	possibly damaging	Het
Slc39a11	C	T	11: 113,562,092	V8M	probably damaging	Het
Smpd2	A	G	10: 41,489,016	I78T	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Syt17	A	T	7: 118,381,884	V462E	probably damaging	Het
Tlr11	T	A	14: 50,361,344	D262E	probably benign	Het
Tnfrsf9	T	C	4: 150,929,874	V10A	probably benign	Het
Trpv3	C	A	11: 73,277,974	Q87K	probably benign	Het
Ugt1a5	T	C	1: 88,166,559	Y170H	probably benign	Het
Urb1	A	G	16: 90,787,408	L562P	probably damaging	Het
Usp3	G	T	9: 66,530,255	N299K	probably benign	Het
Vmn1r83	T	C	7: 12,321,629	Y167C	probably damaging	Het
Vmn2r117	T	A	17: 23,475,565	Y436F	probably benign	Het
Vps13d	A	G	4: 145,128,411	I2220T		Het
Zfp936	T	A	7: 43,187,261	V32D	probably damaging	Het
Znrd1	T	A	17: 36,957,844	L75F	probably benign	Het
Zswim2	A	G	2: 83,920,719	C259R	probably 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
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
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
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'- GTCAAGTACTGTACTTCCCTGACC -3'
(R):5'- CTTGTTAAGGCCATCCCATTG -3'

Sequencing Primer
(F):5'- GTACTTCCCTGACCTAGCCACAG -3'
(R):5'- CCTGCACATGTTGGGAGAC -3'

Posted On

2019-10-07