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

045516-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R7440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116809689-116877774 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 116859271 bp (GRCm39)

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
Acadm	G	A	3: 153,628,626 (GRCm39)	T403I	probably damaging	Het
Adat1	A	T	8: 112,716,530 (GRCm39)	M64K	probably damaging	Het
Adcy2	C	T	13: 68,944,786 (GRCm39)	V199M	probably damaging	Het
Ankrd13a	T	C	5: 114,941,636 (GRCm39)	S508P	possibly damaging	Het
Ap1g1	T	A	8: 110,529,356 (GRCm39)		probably null	Het
Bicral	C	T	17: 47,136,710 (GRCm39)	G167R	probably damaging	Het
Ccser2	T	C	14: 36,620,174 (GRCm39)	K727E	possibly damaging	Het
Cep350	T	G	1: 155,816,518 (GRCm39)	K332N	probably damaging	Het
Cfap68	A	G	9: 50,676,213 (GRCm39)	V35A	probably benign	Het
Chd5	A	G	4: 152,469,108 (GRCm39)	N1811S	probably benign	Het
Chpf	A	T	1: 75,452,245 (GRCm39)	V565D	probably damaging	Het
Clcn6	A	T	4: 148,098,652 (GRCm39)	L489H	probably damaging	Het
Cntln	C	A	4: 84,981,453 (GRCm39)	T877K	possibly damaging	Het
Cog4	T	C	8: 111,606,338 (GRCm39)	V630A	probably benign	Het
Col6a5	G	T	9: 105,758,630 (GRCm39)	S2192*	probably null	Het
Cry2	G	A	2: 92,243,983 (GRCm39)	R397W	probably damaging	Het
Cstdc2	A	C	2: 148,688,911 (GRCm39)	C109W	probably damaging	Het
Cyp1b1	T	C	17: 80,020,986 (GRCm39)	N252S	probably damaging	Het
Dhx9	T	C	1: 153,356,977 (GRCm39)	I91V	probably benign	Het
Dnajb6	G	A	5: 29,962,857 (GRCm39)	A256T	possibly damaging	Het
Epm2a	T	G	10: 11,266,619 (GRCm39)	Y121*	probably null	Het
Erlec1	T	C	11: 30,900,818 (GRCm39)	I117V	possibly damaging	Het
Exoc8	T	C	8: 125,622,520 (GRCm39)	M616V	probably benign	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Fuz	T	C	7: 44,545,996 (GRCm39)	L46P	probably damaging	Het
Insc	T	C	7: 114,444,278 (GRCm39)	S422P	possibly damaging	Het
Intu	A	G	3: 40,651,981 (GRCm39)	I813V	probably benign	Het
Jak3	T	A	8: 72,133,362 (GRCm39)	S352T	probably benign	Het
Klf11	T	C	12: 24,705,490 (GRCm39)	S315P	probably benign	Het
Lrrc63	T	C	14: 75,358,453 (GRCm39)	N400D	possibly damaging	Het
Lrrk1	T	C	7: 65,940,602 (GRCm39)	D760G	probably damaging	Het
Macf1	A	T	4: 123,349,239 (GRCm39)	L3976*	probably null	Het
Map7	C	T	10: 20,137,605 (GRCm39)	A259V	probably damaging	Het
Meioc	T	A	11: 102,565,063 (GRCm39)	D170E	possibly damaging	Het
Mgst1	A	G	6: 138,127,842 (GRCm39)	K68R	probably benign	Het
Miga1	T	A	3: 152,043,683 (GRCm39)		probably null	Het
Mrps33	G	A	6: 39,779,413 (GRCm39)	P94L	probably damaging	Het
Ncapg2	G	T	12: 116,414,033 (GRCm39)	G1068C	possibly damaging	Het
Ndufaf7	C	T	17: 79,249,546 (GRCm39)	H148Y	probably damaging	Het
Nkx6-3	A	T	8: 23,643,770 (GRCm39)	D57V	probably damaging	Het
Nlrp1a	T	C	11: 70,983,150 (GRCm39)	D1272G	probably damaging	Het
Oit3	T	C	10: 59,265,392 (GRCm39)	N291S	probably damaging	Het
Or1b1	A	T	2: 36,995,181 (GRCm39)	H160Q	possibly damaging	Het
Pld1	T	G	3: 28,095,419 (GRCm39)	S251A	probably benign	Het
Polr1h	T	A	17: 37,268,736 (GRCm39)	L75F	probably benign	Het
Potefam3a	C	T	8: 20,356,948 (GRCm38)	S254N	unknown	Het
Ppfibp1	T	C	6: 146,921,001 (GRCm39)	S580P	probably benign	Het
Prdx6b	A	T	2: 80,123,560 (GRCm39)	D123V	probably damaging	Het
Ptprs	A	G	17: 56,731,256 (GRCm39)	L1050P	possibly damaging	Het
Rcc1	A	C	4: 132,065,110 (GRCm39)	S138A	probably damaging	Het
Rimbp3	G	T	16: 17,031,065 (GRCm39)	R1496S	possibly damaging	Het
Sacs	T	C	14: 61,429,054 (GRCm39)	V371A	probably benign	Het
Sfxn4	A	G	19: 60,830,642 (GRCm39)	L260P	possibly damaging	Het
Slc17a1	G	A	13: 24,062,466 (GRCm39)	S211N	possibly damaging	Het
Slc39a11	C	T	11: 113,452,918 (GRCm39)	V8M	probably damaging	Het
Smpd2	A	G	10: 41,365,012 (GRCm39)	I78T	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Syt17	A	T	7: 117,981,107 (GRCm39)	V462E	probably damaging	Het
Tlr11	T	A	14: 50,598,801 (GRCm39)	D262E	probably benign	Het
Tnfrsf9	T	C	4: 151,014,331 (GRCm39)	V10A	probably benign	Het
Trpv3	C	A	11: 73,168,800 (GRCm39)	Q87K	probably benign	Het
Ugt1a5	T	C	1: 88,094,281 (GRCm39)	Y170H	probably benign	Het
Urb1	A	G	16: 90,584,296 (GRCm39)	L562P	probably damaging	Het
Usp3	G	T	9: 66,437,537 (GRCm39)	N299K	probably benign	Het
Vmn1r83	T	C	7: 12,055,556 (GRCm39)	Y167C	probably damaging	Het
Vmn2r117	T	A	17: 23,694,539 (GRCm39)	Y436F	probably benign	Het
Vps13d	A	G	4: 144,854,981 (GRCm39)	I2220T		Het
Zfp936	T	A	7: 42,836,685 (GRCm39)	V32D	probably damaging	Het
Zswim2	A	G	2: 83,751,063 (GRCm39)	C259R	probably damaging	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
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
R9733:Mgat5b	UTSW	11	116,838,074 (GRCm39)	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