Incidental Mutation 'IGL02533:Mgat4b'
ID297398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgat4b
Ensembl Gene ENSMUSG00000036620
Gene Namemannoside acetylglucosaminyltransferase 4, isoenzyme B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02533
Quality Score
Status
Chromosome11
Chromosomal Location50210890-50235103 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 50233552 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 413 (F413Y)
Ref Sequence ENSEMBL: ENSMUSP00000043346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041725] [ENSMUST00000101265] [ENSMUST00000102772] [ENSMUST00000125555] [ENSMUST00000147468] [ENSMUST00000221525]
Predicted Effect probably damaging
Transcript: ENSMUST00000041725
AA Change: F413Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043346
Gene: ENSMUSG00000036620
AA Change: F413Y

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:MAPEG 8 112 4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102772
SMART Domains Protein: ENSMUSP00000099833
Gene: ENSMUSG00000020377

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000151803
SMART Domains Protein: ENSMUSP00000116802
Gene: ENSMUSG00000036620

DomainStartEndE-ValueType
Pfam:Glyco_transf_54 46 252 1.9e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221391
Predicted Effect probably benign
Transcript: ENSMUST00000221525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222498
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1m2 T C 9: 21,296,501 Y396C probably damaging Het
Bach2 T C 4: 32,562,451 V306A probably benign Het
BC080695 A G 4: 143,571,002 probably benign Het
Cnga4 T C 7: 105,407,961 Y424H probably damaging Het
Cops9 T C 1: 92,639,716 E79G possibly damaging Het
Crebbp T C 16: 4,107,432 N769D probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd4b A T 3: 90,272,310 H636L probably benign Het
Dpysl3 T C 18: 43,325,794 T632A probably benign Het
Gabbr1 C T 17: 37,072,147 R857C probably damaging Het
Gbp10 A T 5: 105,220,035 V424D probably damaging Het
Gnptg T C 17: 25,235,455 E146G possibly damaging Het
Has2 A T 15: 56,681,695 H170Q probably benign Het
Il22ra1 G A 4: 135,744,723 G190D possibly damaging Het
Lhcgr T C 17: 88,742,410 T563A probably benign Het
Mms22l T A 4: 24,581,099 probably benign Het
Muc19 C T 15: 91,898,047 noncoding transcript Het
Ncoa7 A C 10: 30,722,785 D47E probably damaging Het
Ncoa7 A T 10: 30,690,899 S545R possibly damaging Het
Nme1 A G 11: 93,959,431 Y142H possibly damaging Het
Olfr1104 T A 2: 87,022,353 S64C probably damaging Het
Olfr1404 A T 1: 173,216,061 M137L probably damaging Het
Olfr193 T A 16: 59,109,684 T309S probably benign Het
Per2 A G 1: 91,431,002 I587T possibly damaging Het
Pias3 A G 3: 96,699,616 D65G possibly damaging Het
Prkacb T C 3: 146,732,696 I304M possibly damaging Het
Ripor2 G T 13: 24,701,395 E538* probably null Het
Sart1 G A 19: 5,383,721 R363* probably null Het
Serpinb3a T G 1: 107,047,162 I214L probably benign Het
Spon2 C A 5: 33,214,598 C288F probably damaging Het
Tmprss11a G A 5: 86,414,527 R320C probably damaging Het
Trpm5 T A 7: 143,089,545 I22F probably benign Het
Ube3a T C 7: 59,304,832 F818L probably damaging Het
Vmn1r120 T G 7: 21,053,138 Q216P probably damaging Het
Vmn2r4 A C 3: 64,398,419 Y527* probably null Het
Zfp618 A T 4: 63,089,405 Y125F probably damaging Het
Other mutations in Mgat4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01628:Mgat4b APN 11 50233309 missense probably benign 0.01
IGL01980:Mgat4b APN 11 50230713 missense probably damaging 1.00
IGL02729:Mgat4b APN 11 50233309 missense probably benign 0.01
IGL02888:Mgat4b APN 11 50232332 missense probably damaging 1.00
IGL03369:Mgat4b APN 11 50234109 missense possibly damaging 0.79
R0085:Mgat4b UTSW 11 50230999 missense possibly damaging 0.87
R0136:Mgat4b UTSW 11 50231081 missense possibly damaging 0.91
R0394:Mgat4b UTSW 11 50230919 intron probably null
R0631:Mgat4b UTSW 11 50230763 missense probably damaging 1.00
R0657:Mgat4b UTSW 11 50231081 missense possibly damaging 0.91
R3932:Mgat4b UTSW 11 50233338 missense possibly damaging 0.70
R4419:Mgat4b UTSW 11 50232986 missense probably damaging 0.99
R4816:Mgat4b UTSW 11 50211021 missense probably benign 0.01
R6315:Mgat4b UTSW 11 50231764 missense probably damaging 1.00
R6677:Mgat4b UTSW 11 50233071 unclassified probably null
R6786:Mgat4b UTSW 11 50230698 missense probably damaging 1.00
R7053:Mgat4b UTSW 11 50233540 missense probably damaging 1.00
R7798:Mgat4b UTSW 11 50225670 missense possibly damaging 0.91
R8042:Mgat4b UTSW 11 50232376 nonsense probably null
Posted On2015-04-16