Incidental Mutation 'IGL03053:Mgat5b'
ID 409132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgat5b
Ensembl Gene ENSMUSG00000043857
Gene Name mannoside acetylglucosaminyltransferase 5, isoenzyme B
Synonyms GnT-IX
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL03053
Quality Score
Status
Chromosome 11
Chromosomal Location 116809689-116877774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116814276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 60 (E60G)
Ref Sequence ENSEMBL: ENSMUSP00000099316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103027]
AlphaFold Q765H6
Predicted Effect possibly damaging
Transcript: ENSMUST00000103027
AA Change: E60G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: E60G

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 G A 4: 106,613,050 (GRCm39) Q342* probably null Het
Arglu1 T A 8: 8,733,960 (GRCm39) I119L probably benign Het
Atp1a2 G A 1: 172,105,923 (GRCm39) T914I probably damaging Het
Birc6 C T 17: 74,872,967 (GRCm39) R409C probably damaging Het
Brwd1 A T 16: 95,818,877 (GRCm39) S1318R possibly damaging Het
C1qtnf12 A T 4: 156,050,921 (GRCm39) N297Y probably damaging Het
Cgas A T 9: 78,344,719 (GRCm39) F234Y probably benign Het
Cyp2a4 A T 7: 26,012,975 (GRCm39) probably benign Het
Cyp2j7 C T 4: 96,118,274 (GRCm39) M106I probably benign Het
Dis3 A G 14: 99,336,170 (GRCm39) V112A probably benign Het
Ehd3 A G 17: 74,112,437 (GRCm39) Y67C probably damaging Het
Elavl4 A T 4: 110,108,691 (GRCm39) S16T possibly damaging Het
F2rl1 A C 13: 95,650,126 (GRCm39) V252G probably benign Het
Fggy A T 4: 95,815,046 (GRCm39) probably benign Het
Hc G T 2: 34,914,210 (GRCm39) N832K probably benign Het
Hnf1a T A 5: 115,108,792 (GRCm39) M38L probably benign Het
Kif13a T C 13: 46,905,564 (GRCm39) N793S probably benign Het
Kit A G 5: 75,771,574 (GRCm39) N244D probably benign Het
Obsl1 T C 1: 75,469,723 (GRCm39) H1098R probably benign Het
Or2l13 A T 16: 19,305,969 (GRCm39) H127L probably benign Het
Or2n1e A C 17: 38,585,682 (GRCm39) S7R probably damaging Het
Or4c123 A C 2: 89,126,789 (GRCm39) I275S probably damaging Het
Or4p7 A G 2: 88,221,938 (GRCm39) M116V probably damaging Het
Or5ac16 A G 16: 59,022,610 (GRCm39) Y60H probably damaging Het
Or5t9 A G 2: 86,659,607 (GRCm39) I170M possibly damaging Het
Or6d15 T C 6: 116,559,206 (GRCm39) R234G possibly damaging Het
Pitpnm2 A G 5: 124,281,664 (GRCm39) I42T probably damaging Het
Prkd2 A G 7: 16,584,188 (GRCm39) D347G possibly damaging Het
Prkdc A G 16: 15,652,030 (GRCm39) I3806V probably benign Het
Rasgrp2 T C 19: 6,457,362 (GRCm39) probably benign Het
Rc3h1 T A 1: 160,783,387 (GRCm39) D734E probably benign Het
Rtel1 A G 2: 180,993,737 (GRCm39) K619E probably benign Het
Tnfrsf26 T C 7: 143,168,597 (GRCm39) D147G possibly damaging Het
Ufl1 A G 4: 25,275,833 (GRCm39) I110T probably damaging Het
Ugt2b36 A G 5: 87,239,933 (GRCm39) S151P possibly damaging Het
Vmn2r25 T C 6: 123,800,077 (GRCm39) Y755C probably damaging Het
Zfhx3 T C 8: 109,673,132 (GRCm39) V1394A probably damaging Het
Zng1 T A 19: 24,932,741 (GRCm39) E97D probably damaging Het
Zzef1 G T 11: 72,722,365 (GRCm39) probably benign Het
Other mutations in Mgat5b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7440:Mgat5b UTSW 11 116,859,271 (GRCm39) nonsense probably null
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
Posted On 2016-08-02