Incidental Mutation 'IGL02316:Mgat1'
ID 288033
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 # IGL02316
Quality Score
Status
Chromosome 11
Chromosomal Location 49135018-49153854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49152185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 223 (Y223H)
Ref Sequence ENSEMBL: ENSMUSP00000126303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081794] [ENSMUST00000101293] [ENSMUST00000109194] [ENSMUST00000129588] [ENSMUST00000167400]
AlphaFold P27808
Predicted Effect probably damaging
Transcript: ENSMUST00000081794
AA Change: Y223H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080484
Gene: ENSMUSG00000020346
AA Change: Y223H

DomainStartEndE-ValueType
Pfam:GNT-I 12 446 1e-206 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101293
AA Change: Y223H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098851
Gene: ENSMUSG00000020346
AA Change: Y223H

DomainStartEndE-ValueType
Pfam:GNT-I 12 446 5.8e-207 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109194
AA Change: Y223H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104817
Gene: ENSMUSG00000020346
AA Change: Y223H

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 damaging
Transcript: ENSMUST00000167400
AA Change: Y223H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126303
Gene: ENSMUSG00000020346
AA Change: Y223H

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c13 G T 13: 4,253,458 (GRCm39) probably benign Het
Arhgap26 C T 18: 38,775,599 (GRCm39) noncoding transcript Het
Atp5f1b T C 10: 127,920,178 (GRCm39) V108A probably benign Het
B230307C23Rik G A 16: 97,809,850 (GRCm39) V9M probably damaging Het
Ccdc85c T A 12: 108,177,829 (GRCm39) H321L probably damaging Het
Diaph3 A T 14: 87,223,551 (GRCm39) M321K possibly damaging Het
Dicer1 G A 12: 104,668,812 (GRCm39) A1290V probably damaging Het
Dnah6 G A 6: 73,145,894 (GRCm39) T839M probably benign Het
Eif3a G A 19: 60,760,076 (GRCm39) probably benign Het
Eml1 T C 12: 108,501,018 (GRCm39) probably benign Het
Exoc4 A G 6: 33,887,519 (GRCm39) Q769R probably damaging Het
Fam184a T G 10: 53,514,335 (GRCm39) T426P probably damaging Het
Fsip2 C A 2: 82,809,137 (GRCm39) H1819N probably benign Het
Gm6686 T A 17: 15,786,500 (GRCm39) probably benign Het
Hadha T C 5: 30,331,565 (GRCm39) S464G probably benign Het
Ighv5-17 A T 12: 113,822,775 (GRCm39) C115* probably null Het
Jmjd6 T C 11: 116,733,928 (GRCm39) Y31C possibly damaging Het
Klrb1-ps1 G A 6: 129,093,532 (GRCm39) noncoding transcript Het
Muc4 T C 16: 32,569,668 (GRCm39) S243P possibly damaging Het
Numa1 T C 7: 101,650,577 (GRCm39) L69P probably damaging Het
Or11h6 T C 14: 50,879,744 (GRCm39) I2T probably benign Het
Or1j21 A T 2: 36,683,632 (GRCm39) H128L probably damaging Het
Or1j4 C A 2: 36,740,294 (GRCm39) P79T probably damaging Het
Or4p23 A G 2: 88,577,187 (GRCm39) F15S probably damaging Het
Pde1c A T 6: 56,128,336 (GRCm39) D332E possibly damaging Het
Pitpnm1 A G 19: 4,162,835 (GRCm39) I1143V probably benign Het
Rsl1 T A 13: 67,325,120 (GRCm39) probably null Het
Scg2 A C 1: 79,413,398 (GRCm39) L442V probably damaging Het
Sez6l A T 5: 112,610,828 (GRCm39) V530E probably damaging Het
Ubr4 T C 4: 139,200,489 (GRCm39) I4655T possibly damaging Het
Zcwpw1 T C 5: 137,808,272 (GRCm39) probably benign Het
Other mutations in Mgat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Mgat1 APN 11 49,151,562 (GRCm39) missense probably damaging 1.00
IGL02321:Mgat1 APN 11 49,152,536 (GRCm39) missense probably benign 0.04
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