Incidental Mutation 'IGL02321:Mgat1'
ID 288233
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgat1
Ensembl Gene ENSMUSG00000020346
Gene Name mannoside acetylglucosaminyltransferase 1
Synonyms Mgat-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02321
Quality Score
Status
Chromosome 11
Chromosomal Location 49135018-49153854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49152536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 340 (F340L)
Ref Sequence ENSEMBL: ENSMUSP00000126303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081794] [ENSMUST00000101293] [ENSMUST00000109194] [ENSMUST00000129588] [ENSMUST00000167400]
AlphaFold P27808
Predicted Effect probably benign
Transcript: ENSMUST00000081794
AA Change: F340L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000080484
Gene: ENSMUSG00000020346
AA Change: F340L

DomainStartEndE-ValueType
Pfam:GNT-I 12 446 1e-206 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101293
AA Change: F340L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098851
Gene: ENSMUSG00000020346
AA Change: F340L

DomainStartEndE-ValueType
Pfam:GNT-I 12 446 5.8e-207 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109194
AA Change: F340L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104817
Gene: ENSMUSG00000020346
AA Change: F340L

DomainStartEndE-ValueType
Pfam:GNT-I 12 446 5.8e-207 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129541
Predicted Effect probably benign
Transcript: ENSMUST00000129588
SMART Domains Protein: ENSMUSP00000114965
Gene: ENSMUSG00000020346

DomainStartEndE-ValueType
Pfam:GNT-I 12 200 5.5e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135314
Predicted Effect probably benign
Transcript: ENSMUST00000167400
AA Change: F340L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000126303
Gene: ENSMUSG00000020346
AA Change: F340L

DomainStartEndE-ValueType
Pfam:GNT-I 12 446 5.8e-207 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156607
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential for normal embryogenesis. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations develop a deficiency of complex N-glycans during embryogenesis, exhibit defects of neural tube formation, vascularization, and left-right body axis determination, and die by embryonic day 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 C T 8: 123,506,853 (GRCm39) R49C possibly damaging Het
Alg2 T C 4: 47,474,249 (GRCm39) Y13C probably benign Het
Apoa4 A G 9: 46,154,218 (GRCm39) D273G probably damaging Het
Axl C T 7: 25,458,194 (GRCm39) V854I probably damaging Het
Bicral A G 17: 47,122,873 (GRCm39) S673P probably benign Het
Camkk2 A G 5: 122,902,190 (GRCm39) S40P probably damaging Het
Ccdc39 A G 3: 33,871,107 (GRCm39) probably benign Het
Ccdc87 A G 19: 4,891,059 (GRCm39) E517G probably damaging Het
Cd22 A G 7: 30,569,308 (GRCm39) S603P probably damaging Het
Cdk5rap3 A T 11: 96,804,291 (GRCm39) C21S probably damaging Het
Chml G A 1: 175,519,900 (GRCm39) P68L possibly damaging Het
Cplane1 A G 15: 8,246,056 (GRCm39) E1476G probably benign Het
Cstdc6 A G 16: 36,143,388 (GRCm39) probably benign Het
Ephb3 T C 16: 21,033,139 (GRCm39) V41A probably damaging Het
Gm4781 T A 10: 100,232,752 (GRCm39) noncoding transcript Het
Hip1r A T 5: 124,137,953 (GRCm39) I760F probably damaging Het
Hyal5 T C 6: 24,891,614 (GRCm39) L476P probably benign Het
Isyna1 A G 8: 71,048,920 (GRCm39) N333S probably damaging Het
Kcnmb1 A T 11: 33,920,091 (GRCm39) probably benign Het
Mark4 T C 7: 19,160,314 (GRCm39) T649A probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mmaa T G 8: 80,000,759 (GRCm39) Y233S probably damaging Het
Ntsr1 G T 2: 180,180,627 (GRCm39) probably null Het
Or2o1 T G 11: 49,051,602 (GRCm39) Y254D probably damaging Het
Orm2 T C 4: 63,281,229 (GRCm39) Y56H probably damaging Het
Pex26 C T 6: 121,170,468 (GRCm39) probably benign Het
Pik3r4 C T 9: 105,521,677 (GRCm39) A81V probably benign Het
Pramel32 A G 4: 88,548,340 (GRCm39) S22P probably benign Het
Prr14l G T 5: 32,985,151 (GRCm39) T1448K probably benign Het
Ralgapa2 A T 2: 146,254,736 (GRCm39) Y799* probably null Het
Ryr1 A C 7: 28,778,121 (GRCm39) L2132R probably damaging Het
Sec23b T C 2: 144,421,325 (GRCm39) probably null Het
Sirt5 C T 13: 43,533,164 (GRCm39) T164I probably damaging Het
Slc9c1 T C 16: 45,376,977 (GRCm39) V429A probably benign Het
Spen T C 4: 141,244,441 (GRCm39) D198G unknown Het
Syne2 A G 12: 75,965,773 (GRCm39) N832D possibly damaging Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Vmn1r191 T A 13: 22,363,068 (GRCm39) R229* probably null Het
Vps53 C T 11: 75,939,364 (GRCm39) D680N possibly damaging Het
Wbp1l G T 19: 46,642,749 (GRCm39) G234V probably benign Het
Wdfy3 A T 5: 102,070,475 (GRCm39) S1098T probably damaging Het
Yod1 T A 1: 130,646,688 (GRCm39) D188E probably damaging Het
Zbtb25 T C 12: 76,396,907 (GRCm39) D105G probably damaging Het
Other mutations in Mgat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Mgat1 APN 11 49,151,562 (GRCm39) missense probably damaging 1.00
IGL02316:Mgat1 APN 11 49,152,185 (GRCm39) missense probably damaging 1.00
R0981:Mgat1 UTSW 11 49,151,882 (GRCm39) missense probably damaging 1.00
R1818:Mgat1 UTSW 11 49,152,111 (GRCm39) missense possibly damaging 0.67
R4418:Mgat1 UTSW 11 49,152,072 (GRCm39) missense probably damaging 1.00
R5534:Mgat1 UTSW 11 49,151,976 (GRCm39) missense probably benign 0.44
R7994:Mgat1 UTSW 11 49,152,770 (GRCm39) missense probably damaging 1.00
R9037:Mgat1 UTSW 11 49,152,256 (GRCm39) missense probably damaging 1.00
R9102:Mgat1 UTSW 11 49,152,165 (GRCm39) missense probably damaging 1.00
R9172:Mgat1 UTSW 11 49,151,910 (GRCm39) missense probably damaging 0.96
R9567:Mgat1 UTSW 11 49,152,694 (GRCm39) missense probably benign 0.19
R9620:Mgat1 UTSW 11 49,152,122 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16