Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01628:Mgat4b'

92835

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mgat4b

Ensembl Gene

ENSMUSG00000036620

Gene Name

mannoside acetylglucosaminyltransferase 4, isoenzyme B

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01628

Quality Score

Status

Chromosome

Chromosomal Location

50116162-50125930 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50124136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 359 (I359V)

Ref Sequence

ENSEMBL: ENSMUSP00000043346 (fasta)

Gene Model

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

AlphaFold

Q812F8

Predicted Effect

probably benign
Transcript: ENSMUST00000041725
AA Change: I359V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000043346
Gene: ENSMUSG00000036620
AA Change: I359V

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 benign
Transcript: ENSMUST00000147468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185146

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: ENSMUST00000222498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221391

Predicted Effect

probably benign
Transcript: ENSMUST00000221525

Coding Region Coverage

Validation Efficiency

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430005L14Rik	T	C	4: 154,045,436 (GRCm39)	V155A	probably damaging	Het
Agtpbp1	T	A	13: 59,655,877 (GRCm39)		probably benign	Het
Bltp1	T	G	3: 37,062,634 (GRCm39)	V3382G	probably damaging	Het
Cd300ld	A	G	11: 114,876,999 (GRCm39)	I144T	probably benign	Het
Cmc1	A	T	9: 117,944,452 (GRCm39)	I22K	probably benign	Het
Cyp3a59	A	G	5: 146,036,629 (GRCm39)	N277S	possibly damaging	Het
Edil3	G	T	13: 89,467,945 (GRCm39)		probably benign	Het
Glipr2	C	A	4: 43,977,565 (GRCm39)	A136E	probably damaging	Het
Gm8297	G	A	14: 16,164,995 (GRCm39)	M1I	probably null	Het
Insrr	C	A	3: 87,708,099 (GRCm39)	C180*	probably null	Het
Kat2b	A	G	17: 53,917,925 (GRCm39)	N95D	possibly damaging	Het
Or2h2	A	T	17: 37,396,192 (GRCm39)	Y288*	probably null	Het
Parp9	A	G	16: 35,777,285 (GRCm39)	T177A	possibly damaging	Het
Rmdn2	T	A	17: 79,979,817 (GRCm39)	Y361*	probably null	Het
Rusc2	A	C	4: 43,425,729 (GRCm39)	Q1278P	probably damaging	Het
Setbp1	A	T	18: 78,899,992 (GRCm39)	L1225Q	probably damaging	Het
Slc39a10	A	T	1: 46,874,683 (GRCm39)	H206Q	probably benign	Het
Slc4a10	A	G	2: 62,099,010 (GRCm39)	Y586C	probably damaging	Het
Sos1	C	T	17: 80,730,106 (GRCm39)		probably benign	Het
Tnn	A	G	1: 159,975,172 (GRCm39)	I85T	possibly damaging	Het
Ttn	A	G	2: 76,769,036 (GRCm39)		probably null	Het
Wdr33	G	T	18: 32,021,363 (GRCm39)	G638C	unknown	Het
Zfp976	T	C	7: 42,261,935 (GRCm39)	Y634C	unknown	Het

Other mutations in Mgat4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6677:Mgat4b	UTSW	11	50,123,898 (GRCm39)	splice site	probably null
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

Posted On

2013-12-09