Incidental Mutation 'IGL00233:Mgat5b'
ID306858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgat5b
Ensembl Gene ENSMUSG00000043857
Gene Namemannoside acetylglucosaminyltransferase 5, isoenzyme B
SynonymsGnT-IX
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL00233
Quality Score
Status
Chromosome11
Chromosomal Location116918863-116986948 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116931662 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 74 (M74K)
Ref Sequence ENSEMBL: ENSMUSP00000099316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103027]
Predicted Effect probably damaging
Transcript: ENSMUST00000103027
AA Change: M74K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: M74K

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Glyco_transf_18 184 777 3.5e-269 PFAM
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp1 A T 3: 132,677,143 probably benign Het
Arpc5 A G 1: 152,768,907 I64V probably benign Het
C030048H21Rik G A 2: 26,256,620 R1227W probably damaging Het
Cacnb1 T C 11: 98,022,364 E21G possibly damaging Het
Catsper3 A G 13: 55,798,822 K111E possibly damaging Het
Cda T C 4: 138,367,846 Y33C probably damaging Het
Celsr3 A T 9: 108,848,925 R3118W probably damaging Het
Clvs1 G A 4: 9,281,939 G128R probably damaging Het
Col9a1 A G 1: 24,185,225 S163G unknown Het
Cyp4v3 T C 8: 45,307,003 D64G probably benign Het
Dst C A 1: 34,251,839 L837M probably damaging Het
Eif2ak4 T A 2: 118,464,055 I1349N probably damaging Het
Elob C A 17: 23,824,980 probably null Het
Glipr1 T A 10: 111,985,650 I216L probably benign Het
Gm3238 C T 10: 77,771,292 probably benign Het
Gm43638 C T 5: 87,460,399 R527H probably damaging Het
H2-M11 A G 17: 36,547,553 K80E probably benign Het
Htt A G 5: 34,896,026 probably null Het
Kif26a A G 12: 112,157,632 S224G probably damaging Het
Ms4a7 A T 19: 11,322,360 V89D probably damaging Het
Nlrx1 G A 9: 44,264,068 T137I probably benign Het
Pcdhb12 A G 18: 37,436,982 T394A probably benign Het
Pkhd1l1 T C 15: 44,477,586 I151T probably damaging Het
Plcl1 T C 1: 55,406,536 V50A probably benign Het
Prkd2 T C 7: 16,865,862 F750S probably damaging Het
Psmd13 T C 7: 140,897,621 V311A probably damaging Het
Rec8 C T 14: 55,623,515 Q334* probably null Het
Rfx7 G A 9: 72,607,690 V157I probably damaging Het
Sele G A 1: 164,051,834 C312Y probably damaging Het
Sorcs3 A G 19: 48,748,319 T694A probably benign Het
Tma16 G T 8: 66,480,445 Q95K probably benign Het
Vmn1r191 T C 13: 22,178,720 D288G probably damaging Het
Vmn1r231 A T 17: 20,890,566 I29N possibly damaging Het
Vmn2r1 T A 3: 64,104,968 L750* probably null Het
Other mutations in Mgat5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7440:Mgat5b UTSW 11 116968445 nonsense probably null
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
Posted On2015-04-16