Incidental Mutation 'R1668:Mgat5b'
ID 187391
Institutional Source Beutler Lab
Gene Symbol Mgat5b
Ensembl Gene ENSMUSG00000043857
Gene Name mannoside acetylglucosaminyltransferase 5, isoenzyme B
Synonyms GnT-IX
MMRRC Submission 039704-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R1668 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 116809689-116877774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116874474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 635 (N635K)
Ref Sequence ENSEMBL: ENSMUSP00000099316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103027]
AlphaFold Q765H6
Predicted Effect probably benign
Transcript: ENSMUST00000103027
AA Change: N635K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099316
Gene: ENSMUSG00000043857
AA Change: N635K

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Glyco_transf_18 184 777 3.5e-269 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126757
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra2c T C 5: 35,437,641 (GRCm39) S138P probably damaging Het
Appl1 A C 14: 26,645,811 (GRCm39) S666R probably damaging Het
Arhgap45 A G 10: 79,864,584 (GRCm39) S879G possibly damaging Het
Calcoco2 T C 11: 95,993,563 (GRCm39) M140V probably benign Het
Cap2 C A 13: 46,768,799 (GRCm39) H147N probably damaging Het
Chd9 A T 8: 91,767,814 (GRCm39) H2437L probably damaging Het
Col5a3 A G 9: 20,682,392 (GRCm39) I1684T unknown Het
Comp A T 8: 70,831,607 (GRCm39) probably null Het
Cyp2c50 A T 19: 40,079,499 (GRCm39) M198L probably benign Het
Dnaaf2 A G 12: 69,243,465 (GRCm39) V532A probably benign Het
Dnah10 A T 5: 124,842,626 (GRCm39) Q1358L probably benign Het
Dop1b T A 16: 93,562,404 (GRCm39) S832T probably damaging Het
Dus3l T G 17: 57,073,912 (GRCm39) F162C possibly damaging Het
Epb41l4a A G 18: 34,054,962 (GRCm39) L42P probably damaging Het
Ercc5 T A 1: 44,206,193 (GRCm39) S369T probably benign Het
Fbxl2 C T 9: 113,818,214 (GRCm39) V211M probably benign Het
Fermt3 A G 19: 6,996,060 (GRCm39) V45A probably damaging Het
Frs3 C A 17: 48,014,147 (GRCm39) P280Q possibly damaging Het
Fxn A G 19: 24,239,377 (GRCm39) Y172H probably damaging Het
Gabpa T C 16: 84,643,069 (GRCm39) V122A probably damaging Het
Gsta4 A G 9: 78,111,570 (GRCm39) T66A probably benign Het
Hsdl2 C T 4: 59,612,697 (GRCm39) T296M probably damaging Het
Kank4 T C 4: 98,667,133 (GRCm39) N438S probably damaging Het
Krt24 A G 11: 99,175,444 (GRCm39) I197T probably benign Het
Lct T C 1: 128,215,459 (GRCm39) probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mc4r A G 18: 66,992,480 (GRCm39) L211P probably damaging Het
Mfsd4b5 T C 10: 39,849,687 (GRCm39) T111A probably damaging Het
Mms19 A T 19: 41,940,995 (GRCm39) M443K possibly damaging Het
Morc2a G A 11: 3,625,885 (GRCm39) V162M probably benign Het
Mroh5 T C 15: 73,659,754 (GRCm39) N359S probably benign Het
Mroh9 T C 1: 162,852,161 (GRCm39) I843V possibly damaging Het
Nbeal2 T C 9: 110,467,961 (GRCm39) D436G probably damaging Het
Nbr1 A G 11: 101,460,592 (GRCm39) D502G probably benign Het
Ngfr C T 11: 95,478,371 (GRCm39) G5D probably damaging Het
Nlrc4 G A 17: 74,752,901 (GRCm39) T494M probably damaging Het
Notch3 T A 17: 32,377,563 (GRCm39) H171L probably damaging Het
Nsmaf A G 4: 6,398,880 (GRCm39) L795P probably damaging Het
Nup210 T C 6: 91,005,787 (GRCm39) T616A possibly damaging Het
Or10d5 C A 9: 39,861,465 (GRCm39) V201L possibly damaging Het
Or1j18 T A 2: 36,625,204 (GRCm39) Y290* probably null Het
Or5ak25 T A 2: 85,269,220 (GRCm39) Y94F probably benign Het
Or5b113 A C 19: 13,342,234 (GRCm39) M81L probably benign Het
Osbpl5 T C 7: 143,262,776 (GRCm39) H192R probably damaging Het
Parp2 G A 14: 51,058,313 (GRCm39) R486Q probably benign Het
Pcgf6 G A 19: 47,028,544 (GRCm39) A286V probably damaging Het
Pla2r1 T C 2: 60,258,990 (GRCm39) T1133A probably damaging Het
Plekha2 T C 8: 25,562,070 (GRCm39) N48S probably damaging Het
Pole T G 5: 110,445,235 (GRCm39) S461A probably damaging Het
Ppfibp2 T C 7: 107,329,099 (GRCm39) L536P probably damaging Het
Prkcz G T 4: 155,374,208 (GRCm39) F69L probably damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Rab23 A T 1: 33,773,935 (GRCm39) K132* probably null Het
Rbck1 T A 2: 152,158,819 (GRCm39) S488C probably damaging Het
Rbl1 T C 2: 157,001,654 (GRCm39) Y878C probably damaging Het
Rpn2 C T 2: 157,136,075 (GRCm39) T161M possibly damaging Het
Rufy4 G A 1: 74,186,837 (GRCm39) V542I probably benign Het
Serpinb3d A G 1: 107,008,481 (GRCm39) V128A probably benign Het
Smarca2 A G 19: 26,624,434 (GRCm39) I365V possibly damaging Het
Spata31f1a G T 4: 42,848,424 (GRCm39) T1244K probably damaging Het
Sptb A G 12: 76,667,943 (GRCm39) V718A probably benign Het
Susd4 A G 1: 182,686,128 (GRCm39) H226R probably benign Het
Tmem151b T C 17: 45,856,831 (GRCm39) Y203C probably damaging Het
Tmppe T C 9: 114,233,968 (GRCm39) V89A possibly damaging Het
Trappc6b A T 12: 59,094,907 (GRCm39) probably null Het
Ube4b A T 4: 149,445,751 (GRCm39) M433K probably benign Het
Vmn1r202 A T 13: 22,685,540 (GRCm39) D292E possibly damaging Het
Vmn1r22 A G 6: 57,877,704 (GRCm39) M91T probably benign Het
Vmn1r43 T C 6: 89,846,683 (GRCm39) I268V probably benign Het
Vmn1r49 T A 6: 90,049,764 (GRCm39) R79S probably benign Het
Vmn2r14 T A 5: 109,366,913 (GRCm39) K436* probably null Het
Wdr72 A G 9: 74,117,444 (GRCm39) S719G probably damaging Het
Zfp526 T C 7: 24,924,967 (GRCm39) F409L probably benign Het
Zfp804b A C 5: 6,821,323 (GRCm39) L580R possibly damaging Het
Zfp977 T C 7: 42,230,070 (GRCm39) T152A probably benign Het
Zyx T A 6: 42,332,966 (GRCm39) V372E possibly damaging 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
IGL03053:Mgat5b APN 11 116,814,276 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- CATCCCTCGGGATTTCCTTGGAAAC -3'
(R):5'- GGCTGCCATTGGTTCTACTAGCTC -3'

Sequencing Primer
(F):5'- CGGGATTTCCTTGGAAACACAAAG -3'
(R):5'- CATGATTGTTGGACCCCAGG -3'
Posted On 2014-05-09