Incidental Mutation 'R5310:Mgat5'
ID 404758
Institutional Source Beutler Lab
Gene Symbol Mgat5
Ensembl Gene ENSMUSG00000036155
Gene Name mannoside acetylglucosaminyltransferase 5
Synonyms 4930471A21Rik, 5330407H02Rik, GlcNAc-TV, beta1,6N-acetylglucosaminyltransferase V
MMRRC Submission 042893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5310 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 127132450-127413760 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 127315251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038361] [ENSMUST00000171405] [ENSMUST00000171405]
AlphaFold Q8R4G6
Predicted Effect probably null
Transcript: ENSMUST00000038361
SMART Domains Protein: ENSMUSP00000038359
Gene: ENSMUSG00000036155

DomainStartEndE-ValueType
Pfam:DUF4525 2 138 3.4e-70 PFAM
Pfam:Glyco_transf_18 171 725 9.8e-268 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000171405
SMART Domains Protein: ENSMUSP00000129166
Gene: ENSMUSG00000036155

DomainStartEndE-ValueType
Pfam:DUF4525 3 137 9.3e-64 PFAM
Pfam:Glyco_transf_18 171 725 1.9e-268 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000171405
SMART Domains Protein: ENSMUSP00000129166
Gene: ENSMUSG00000036155

DomainStartEndE-ValueType
Pfam:DUF4525 3 137 9.3e-64 PFAM
Pfam:Glyco_transf_18 171 725 1.9e-268 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190921
Meta Mutation Damage Score 0.9496 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.7%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for deficiencies in this gene have immune system abnormalities and reduced cancer growth and metastasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,931,839 (GRCm39) I31L possibly damaging Het
Abca17 T C 17: 24,500,204 (GRCm39) K1329R probably benign Het
Acap2 A G 16: 30,952,427 (GRCm39) Y197H probably benign Het
Adgrv1 A G 13: 81,624,809 (GRCm39) V3720A possibly damaging Het
Alms1 T A 6: 85,592,350 (GRCm39) S870T possibly damaging Het
Anapc4 A G 5: 53,016,501 (GRCm39) E493G probably benign Het
Ap2a1 A G 7: 44,555,489 (GRCm39) probably null Het
Arhgef38 A G 3: 132,822,227 (GRCm39) L179P probably damaging Het
Bicral T C 17: 47,124,909 (GRCm39) D630G possibly damaging Het
Ccdc97 A T 7: 25,415,201 (GRCm39) L154Q probably damaging Het
Cd40 T C 2: 164,905,483 (GRCm39) probably null Het
Celsr1 T A 15: 85,810,423 (GRCm39) N2155I possibly damaging Het
Cemip A T 7: 83,641,241 (GRCm39) L261H probably damaging Het
Cep57 G A 9: 13,730,164 (GRCm39) H98Y probably damaging Het
Chrna7 A T 7: 62,755,805 (GRCm39) L247Q probably damaging Het
Cyp2c40 T A 19: 39,766,474 (GRCm39) M374L probably damaging Het
Cyp4f13 T C 17: 33,144,795 (GRCm39) D372G probably damaging Het
Dazl C A 17: 50,588,311 (GRCm39) S288I probably damaging Het
Dnah5 T C 15: 28,311,474 (GRCm39) F1818L probably damaging Het
Echdc1 T C 10: 29,210,204 (GRCm39) V143A possibly damaging Het
Eif4enif1 T A 11: 3,192,687 (GRCm39) H838Q probably damaging Het
Erich3 A T 3: 154,469,217 (GRCm39) D1223V probably damaging Het
Fbxl2 A G 9: 113,815,576 (GRCm39) I229T possibly damaging Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Ggnbp2 A G 11: 84,760,794 (GRCm39) M1T probably null Het
Glb1l2 C T 9: 26,708,162 (GRCm39) probably benign Het
Gnl2 A G 4: 124,946,633 (GRCm39) K618R probably benign Het
Greb1 A T 12: 16,766,760 (GRCm39) I346K probably benign Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Gtse1 A G 15: 85,757,993 (GRCm39) Q533R probably benign Het
Hemgn A G 4: 46,403,927 (GRCm39) S23P possibly damaging Het
Htr6 G T 4: 138,788,977 (GRCm39) H359Q probably damaging Het
Ifit1 T C 19: 34,626,204 (GRCm39) F447L probably benign Het
Kansl1 T C 11: 104,315,684 (GRCm39) Y118C possibly damaging Het
Khk G A 5: 31,084,373 (GRCm39) V118M probably benign Het
Klra17 T A 6: 129,845,671 (GRCm39) K181M probably damaging Het
Lbh T C 17: 73,228,287 (GRCm39) probably null Het
Lmo2 T C 2: 103,806,445 (GRCm39) I108T probably damaging Het
Maco1 T C 4: 134,564,330 (GRCm39) probably benign Het
Mink1 T C 11: 70,498,169 (GRCm39) V525A probably benign Het
Myo10 C A 15: 25,778,164 (GRCm39) probably null Het
Nlrp2 T C 7: 5,328,007 (GRCm39) N682S probably benign Het
Nr2e3 G A 9: 59,856,617 (GRCm39) probably benign Het
Or5p5 T C 7: 107,414,171 (GRCm39) C129R probably damaging Het
Or6b2b T C 1: 92,418,758 (GRCm39) T240A probably damaging Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Pfas G A 11: 68,878,847 (GRCm39) S1319F probably damaging Het
Phf3 T C 1: 30,842,887 (GRCm39) K2024R probably damaging Het
Pld4 G A 12: 112,735,046 (GRCm39) C501Y probably damaging Het
Psg16 C T 7: 16,824,560 (GRCm39) R115W probably damaging Het
Rab3gap1 G A 1: 127,870,110 (GRCm39) probably null Het
Rimkla C A 4: 119,335,049 (GRCm39) K111N probably damaging Het
Rrm2b T C 15: 37,927,571 (GRCm39) E113G probably damaging Het
Rspry1 C T 8: 95,349,813 (GRCm39) T67I probably benign Het
Skint6 C A 4: 113,041,965 (GRCm39) E292* probably null Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc13a1 A G 6: 24,134,373 (GRCm39) M170T probably benign Het
Slc15a5 T C 6: 138,050,034 (GRCm39) N127S probably benign Het
Slc39a10 G A 1: 46,875,285 (GRCm39) H6Y probably damaging Het
Spata31e2 A C 1: 26,724,169 (GRCm39) V337G probably benign Het
Sugct A T 13: 17,427,145 (GRCm39) C338* probably null Het
Tbk1 A T 10: 121,391,956 (GRCm39) M486K probably benign Het
Terf1 A T 1: 15,875,909 (GRCm39) E3V probably damaging Het
Thoc5 T A 11: 4,860,648 (GRCm39) Y246N probably damaging Het
Tmem167b G A 3: 108,469,415 (GRCm39) probably benign Het
Tmtc1 T A 6: 148,256,910 (GRCm39) probably benign Het
Zfp322a A T 13: 23,541,532 (GRCm39) M70K possibly damaging Het
Zfp979 A T 4: 147,698,375 (GRCm39) H111Q possibly damaging Het
Other mutations in Mgat5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Mgat5 APN 1 127,315,204 (GRCm39) missense probably damaging 1.00
IGL00813:Mgat5 APN 1 127,312,543 (GRCm39) missense probably benign
IGL01795:Mgat5 APN 1 127,396,968 (GRCm39) missense probably damaging 0.98
IGL01830:Mgat5 APN 1 127,339,869 (GRCm39) missense probably damaging 1.00
IGL01879:Mgat5 APN 1 127,325,287 (GRCm39) missense probably damaging 0.99
IGL02322:Mgat5 APN 1 127,310,722 (GRCm39) missense probably benign 0.00
IGL02621:Mgat5 APN 1 127,325,326 (GRCm39) missense possibly damaging 0.86
IGL02695:Mgat5 APN 1 127,339,868 (GRCm39) missense probably damaging 1.00
IGL03142:Mgat5 APN 1 127,339,960 (GRCm39) missense probably damaging 1.00
Cowlick UTSW 1 127,399,301 (GRCm39) missense probably benign 0.36
Curls UTSW 1 127,248,371 (GRCm39) missense possibly damaging 0.77
R0518:Mgat5 UTSW 1 127,312,584 (GRCm39) missense probably damaging 1.00
R0594:Mgat5 UTSW 1 127,339,985 (GRCm39) missense probably damaging 0.96
R1480:Mgat5 UTSW 1 127,387,716 (GRCm39) missense probably damaging 1.00
R1501:Mgat5 UTSW 1 127,325,378 (GRCm39) critical splice donor site probably null
R1712:Mgat5 UTSW 1 127,248,375 (GRCm39) missense probably benign 0.34
R1744:Mgat5 UTSW 1 127,407,206 (GRCm39) missense probably damaging 1.00
R1862:Mgat5 UTSW 1 127,387,706 (GRCm39) missense probably damaging 1.00
R1994:Mgat5 UTSW 1 127,387,696 (GRCm39) missense possibly damaging 0.82
R2054:Mgat5 UTSW 1 127,325,344 (GRCm39) missense probably damaging 1.00
R2150:Mgat5 UTSW 1 127,396,987 (GRCm39) missense probably damaging 1.00
R2303:Mgat5 UTSW 1 127,374,036 (GRCm39) missense probably benign 0.00
R2566:Mgat5 UTSW 1 127,234,741 (GRCm39) missense probably benign 0.01
R3498:Mgat5 UTSW 1 127,312,571 (GRCm39) missense possibly damaging 0.55
R3788:Mgat5 UTSW 1 127,294,180 (GRCm39) missense probably benign
R4674:Mgat5 UTSW 1 127,318,495 (GRCm39) missense probably damaging 1.00
R4873:Mgat5 UTSW 1 127,396,986 (GRCm39) missense probably damaging 1.00
R4875:Mgat5 UTSW 1 127,396,986 (GRCm39) missense probably damaging 1.00
R5175:Mgat5 UTSW 1 127,387,649 (GRCm39) missense probably damaging 0.97
R5337:Mgat5 UTSW 1 127,387,658 (GRCm39) missense possibly damaging 0.84
R5597:Mgat5 UTSW 1 127,325,303 (GRCm39) missense probably damaging 1.00
R5599:Mgat5 UTSW 1 127,325,303 (GRCm39) missense probably damaging 1.00
R5861:Mgat5 UTSW 1 127,315,129 (GRCm39) missense probably damaging 1.00
R5956:Mgat5 UTSW 1 127,310,676 (GRCm39) missense probably benign 0.10
R6042:Mgat5 UTSW 1 127,387,636 (GRCm39) missense probably damaging 1.00
R6223:Mgat5 UTSW 1 127,310,716 (GRCm39) missense possibly damaging 0.86
R6492:Mgat5 UTSW 1 127,399,301 (GRCm39) missense probably benign 0.36
R6662:Mgat5 UTSW 1 127,396,974 (GRCm39) missense probably damaging 1.00
R6960:Mgat5 UTSW 1 127,248,371 (GRCm39) missense possibly damaging 0.77
R6981:Mgat5 UTSW 1 127,318,588 (GRCm39) missense probably damaging 0.98
R7110:Mgat5 UTSW 1 127,310,716 (GRCm39) missense possibly damaging 0.92
R7133:Mgat5 UTSW 1 127,292,926 (GRCm39) missense probably benign
R7142:Mgat5 UTSW 1 127,339,924 (GRCm39) missense probably damaging 1.00
R7151:Mgat5 UTSW 1 127,373,999 (GRCm39) missense probably damaging 0.97
R7506:Mgat5 UTSW 1 127,294,192 (GRCm39) missense probably benign 0.24
R7790:Mgat5 UTSW 1 127,339,941 (GRCm39) missense probably benign 0.23
R7980:Mgat5 UTSW 1 127,407,248 (GRCm39) missense probably benign 0.13
R8548:Mgat5 UTSW 1 127,248,409 (GRCm39) missense possibly damaging 0.77
R9008:Mgat5 UTSW 1 127,407,308 (GRCm39) missense probably damaging 1.00
R9127:Mgat5 UTSW 1 127,294,197 (GRCm39) missense probably benign 0.14
R9279:Mgat5 UTSW 1 127,325,348 (GRCm39) missense probably damaging 1.00
R9599:Mgat5 UTSW 1 127,248,445 (GRCm39) missense probably benign 0.02
X0028:Mgat5 UTSW 1 127,294,222 (GRCm39) missense possibly damaging 0.91
Z1177:Mgat5 UTSW 1 127,410,429 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATCCTTGTTCACCTGGGG -3'
(R):5'- CCTGGTGTTCATTTATGAGGCC -3'

Sequencing Primer
(F):5'- TTCACCTGGGGCTCCTGAC -3'
(R):5'- TCATTTATGAGGCCCCGGGAG -3'
Posted On 2016-07-22