Mutagenetix > Incidental Mutation

Incidental Mutation 'R6677:Mgat4b'

527319

Institutional Source

Beutler Lab

Gene Symbol

Mgat4b

Ensembl Gene

ENSMUSG00000036620

Gene Name

mannoside acetylglucosaminyltransferase 4, isoenzyme B

Synonyms

MMRRC Submission

044796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6677 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50116162-50125930 bp(+) (GRCm39)

Type of Mutation

splice site (1972 bp from exon)

DNA Base Change (assembly)

A to G at 50123898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041725] [ENSMUST00000101265] [ENSMUST00000102772] [ENSMUST00000125555] [ENSMUST00000147468] [ENSMUST00000221525]

AlphaFold

Q812F8

Predicted Effect

probably damaging
Transcript: ENSMUST00000041725
AA Change: D346G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043346
Gene: ENSMUSG00000036620
AA Change: D346G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Glyco_transf_54	98	387	6.6e-138	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101265

SMART Domains

Protein: ENSMUSP00000098823
Gene: ENSMUSG00000020377

Domain	Start	End	E-Value	Type
Pfam:MAPEG	8	112	4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102772

SMART Domains

Protein: ENSMUSP00000099833
Gene: ENSMUSG00000020377

Domain	Start	End	E-Value	Type
Pfam:MAPEG	8	131	1.1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122977

Predicted Effect

probably benign
Transcript: ENSMUST00000125555

SMART Domains

Protein: ENSMUSP00000121584
Gene: ENSMUSG00000020377

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
low complexity region	64	83	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133714

Predicted Effect

probably null
Transcript: ENSMUST00000147468

Predicted Effect

probably benign
Transcript: ENSMUST00000151803

SMART Domains

Protein: ENSMUSP00000116802
Gene: ENSMUSG00000036620

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_54	46	252	1.9e-89	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221081

Predicted Effect

probably benign
Transcript: ENSMUST00000221525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180443

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (31/31)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a floxed targeted allele are viable and do not display any gross physical or behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	G	T	8: 87,261,381 (GRCm39)	H713Q	possibly damaging	Het
Akap9	A	G	5: 4,079,869 (GRCm39)	T1874A	probably benign	Het
Atl1	A	G	12: 70,000,218 (GRCm39)	I289M	probably damaging	Het
Atp12a	A	G	14: 56,618,311 (GRCm39)	D654G	probably damaging	Het
Bbox1	C	A	2: 110,135,770 (GRCm39)	D70Y	probably damaging	Het
Blzf1	A	T	1: 164,130,181 (GRCm39)	V50D	possibly damaging	Het
Ccdc168	G	T	1: 44,097,859 (GRCm39)	R1080S	probably benign	Het
Cfap65	C	A	1: 74,943,844 (GRCm39)	D1556Y	probably damaging	Het
Chrm2	A	T	6: 36,501,027 (GRCm39)	N295Y	probably damaging	Het
Clca3b	T	A	3: 144,529,145 (GRCm39)	E843V	probably benign	Het
Enpp3	T	A	10: 24,653,855 (GRCm39)	N701Y	possibly damaging	Het
Fbxo30	G	T	10: 11,166,380 (GRCm39)	L367F	possibly damaging	Het
Gm4841	A	T	18: 60,403,652 (GRCm39)	F147Y	probably damaging	Het
Itprid2	A	G	2: 79,485,445 (GRCm39)	T500A	possibly damaging	Het
Lama1	G	A	17: 68,102,228 (GRCm39)	V1951I	probably benign	Het
Mpp3	A	G	11: 101,899,444 (GRCm39)	V359A	probably benign	Het
Nhsl1	T	A	10: 18,401,610 (GRCm39)	D911E	probably damaging	Het
Or13a23-ps1	T	G	7: 140,118,465 (GRCm39)	F12V	probably damaging	Het
Polr1b	T	C	2: 128,962,131 (GRCm39)		probably benign	Het
Qrfprl	A	T	6: 65,433,229 (GRCm39)	I350F	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Saxo2	T	C	7: 82,284,484 (GRCm39)	R125G	probably benign	Het
Scn8a	A	G	15: 100,866,953 (GRCm39)	D103G	probably damaging	Het
Sfxn2	A	T	19: 46,570,967 (GRCm39)	N9I	possibly damaging	Het
Shroom1	G	A	11: 53,354,343 (GRCm39)	A88T	possibly damaging	Het
Slc24a5	G	T	2: 124,922,615 (GRCm39)	A126S	possibly damaging	Het
Sult5a1	A	G	8: 123,876,017 (GRCm39)	F100L	probably benign	Het
Syne1	T	C	10: 4,990,942 (GRCm39)	Q579R	possibly damaging	Het
Vmn1r113	G	A	7: 20,521,903 (GRCm39)	G232S	probably benign	Het
Zic5	C	G	14: 122,702,566 (GRCm39)	R55P	unknown	Het

Other mutations in Mgat4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01628:Mgat4b	APN	11	50,124,136 (GRCm39)	missense	probably benign	0.01
IGL01980:Mgat4b	APN	11	50,121,540 (GRCm39)	missense	probably damaging	1.00
IGL02533:Mgat4b	APN	11	50,124,379 (GRCm39)	missense	probably damaging	0.99
IGL02729:Mgat4b	APN	11	50,124,136 (GRCm39)	missense	probably benign	0.01
IGL02888:Mgat4b	APN	11	50,123,159 (GRCm39)	missense	probably damaging	1.00
IGL03369:Mgat4b	APN	11	50,124,936 (GRCm39)	missense	possibly damaging	0.79
R0085:Mgat4b	UTSW	11	50,121,826 (GRCm39)	missense	possibly damaging	0.87
R0136:Mgat4b	UTSW	11	50,121,908 (GRCm39)	missense	possibly damaging	0.91
R0394:Mgat4b	UTSW	11	50,121,746 (GRCm39)	splice site	probably null
R0631:Mgat4b	UTSW	11	50,121,590 (GRCm39)	missense	probably damaging	1.00
R0657:Mgat4b	UTSW	11	50,121,908 (GRCm39)	missense	possibly damaging	0.91
R3932:Mgat4b	UTSW	11	50,124,165 (GRCm39)	missense	possibly damaging	0.70
R4419:Mgat4b	UTSW	11	50,123,813 (GRCm39)	missense	probably damaging	0.99
R4816:Mgat4b	UTSW	11	50,101,848 (GRCm39)	missense	probably benign	0.01
R6315:Mgat4b	UTSW	11	50,122,591 (GRCm39)	missense	probably damaging	1.00
R6786:Mgat4b	UTSW	11	50,121,525 (GRCm39)	missense	probably damaging	1.00
R7053:Mgat4b	UTSW	11	50,124,367 (GRCm39)	missense	probably damaging	1.00
R7798:Mgat4b	UTSW	11	50,116,497 (GRCm39)	missense	possibly damaging	0.91
R8042:Mgat4b	UTSW	11	50,123,203 (GRCm39)	nonsense	probably null
R8165:Mgat4b	UTSW	11	50,101,801 (GRCm39)	missense	probably benign	0.09
R8428:Mgat4b	UTSW	11	50,121,512 (GRCm39)	missense	probably benign	0.01
R8859:Mgat4b	UTSW	11	50,121,674 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- AACAGGGTTAGTGGTACTCCC -3'
(R):5'- GCCGATCACAATGTTTCTGTG -3'

Sequencing Primer
(F):5'- TGGTACTCCCCACTCAGAG -3'
(R):5'- TGAACAGATTGGCGCCTTAG -3'

Posted On

2018-07-23