Incidental Mutation 'IGL03142:Mgat5'
ID 410712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgat5
Ensembl Gene ENSMUSG00000036155
Gene Name mannoside acetylglucosaminyltransferase 5
Synonyms 4930471A21Rik, 5330407H02Rik, GlcNAc-TV, beta1,6N-acetylglucosaminyltransferase V
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03142
Quality Score
Status
Chromosome 1
Chromosomal Location 127132450-127413760 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 127339960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 447 (Q447P)
Ref Sequence ENSEMBL: ENSMUSP00000129166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038361] [ENSMUST00000171405]
AlphaFold Q8R4G6
Predicted Effect probably damaging
Transcript: ENSMUST00000038361
AA Change: Q447P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038359
Gene: ENSMUSG00000036155
AA Change: Q447P

DomainStartEndE-ValueType
Pfam:DUF4525 2 138 3.4e-70 PFAM
Pfam:Glyco_transf_18 171 725 9.8e-268 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171405
AA Change: Q447P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129166
Gene: ENSMUSG00000036155
AA Change: Q447P

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: ENSMUST00000195573
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,913,457 (GRCm39) S523G probably damaging Het
Ccnb1 A T 13: 100,920,039 (GRCm39) D157E probably damaging Het
Cep43 T A 17: 8,411,041 (GRCm39) S331R probably damaging Het
Cfap70 T C 14: 20,447,283 (GRCm39) T1055A probably damaging Het
Fn1 C A 1: 71,676,455 (GRCm39) R592L probably damaging Het
Frmpd4 T A X: 166,262,479 (GRCm39) D550V possibly damaging Het
Gcm2 A G 13: 41,256,711 (GRCm39) V346A probably benign Het
Gm10112 C T X: 110,209,673 (GRCm39) T4I probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Has2 A T 15: 56,545,491 (GRCm39) I37N possibly damaging Het
Hmgn3 A G 9: 83,028,482 (GRCm39) probably benign Het
Klhl29 T A 12: 5,187,603 (GRCm39) N254Y probably damaging Het
Kti12 A G 4: 108,705,362 (GRCm39) Y92C probably damaging Het
Lyset G A 12: 102,710,933 (GRCm39) S52N probably damaging Het
Mlh3 C A 12: 85,297,075 (GRCm39) probably null Het
Mrpl45 T C 11: 97,206,751 (GRCm39) W18R probably benign Het
Mtor A G 4: 148,538,356 (GRCm39) D138G probably benign Het
Mycbp2 C T 14: 103,536,212 (GRCm39) C246Y probably damaging Het
Mylk4 A T 13: 32,904,582 (GRCm39) V415E probably damaging Het
Olfm3 A T 3: 114,890,679 (GRCm39) Q124L probably damaging Het
Or4d11 A T 19: 12,013,752 (GRCm39) M118K probably damaging Het
Pam C T 1: 97,822,111 (GRCm39) G298R probably damaging Het
Pappa2 A C 1: 158,682,501 (GRCm39) I849R probably damaging Het
Pde3a T A 6: 141,438,025 (GRCm39) D1031E probably benign Het
Pik3cb A T 9: 98,947,615 (GRCm39) S521T probably benign Het
Pkn1 A G 8: 84,397,652 (GRCm39) F824L possibly damaging Het
Pspn C T 17: 57,306,566 (GRCm39) R121Q probably benign Het
Ric1 A G 19: 29,578,380 (GRCm39) D1195G possibly damaging Het
Sin3b A G 8: 73,471,196 (GRCm39) D381G probably damaging Het
Slc37a3 T C 6: 39,336,919 (GRCm39) probably null Het
Smtn T A 11: 3,482,601 (GRCm39) K124* probably null Het
Tbce A G 13: 14,194,449 (GRCm39) V70A possibly damaging Het
Tti1 A G 2: 157,842,597 (GRCm39) Y811H probably damaging Het
Uggt2 T C 14: 119,235,603 (GRCm39) Y1424C probably damaging Het
Upf1 A G 8: 70,785,977 (GRCm39) V994A probably benign Het
Vmn2r121 T C X: 123,042,635 (GRCm39) D174G 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
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
R5310:Mgat5 UTSW 1 127,315,251 (GRCm39) critical splice donor site probably null
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
Posted On 2016-08-02