Incidental Mutation 'R0981:Mgat1'
ID 97187
Institutional Source Beutler Lab
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 # R0981 (G1)
Quality Score 205
Status Not validated
Chromosome 11
Chromosomal Location 49135018-49153854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 49151882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 122 (R122C)
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: R122C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080484
Gene: ENSMUSG00000020346
AA Change: R122C

DomainStartEndE-ValueType
Pfam:GNT-I 12 446 1e-206 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101293
AA Change: R122C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098851
Gene: ENSMUSG00000020346
AA Change: R122C

DomainStartEndE-ValueType
Pfam:GNT-I 12 446 5.8e-207 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109194
AA Change: R122C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104817
Gene: ENSMUSG00000020346
AA Change: R122C

DomainStartEndE-ValueType
Pfam:GNT-I 12 446 5.8e-207 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129541
Predicted Effect probably damaging
Transcript: ENSMUST00000129588
AA Change: R122C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114965
Gene: ENSMUSG00000020346
AA Change: R122C

DomainStartEndE-ValueType
Pfam:GNT-I 12 200 5.5e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149406
Predicted Effect probably damaging
Transcript: ENSMUST00000167400
AA Change: R122C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126303
Gene: ENSMUSG00000020346
AA Change: R122C

DomainStartEndE-ValueType
Pfam:GNT-I 12 446 5.8e-207 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155806
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.4%
  • 10x: 95.4%
  • 20x: 89.6%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,831,257 (GRCm39) C942S probably damaging Het
Alpk1 T C 3: 127,473,051 (GRCm39) N984S possibly damaging Het
Ankrd55 T C 13: 112,459,610 (GRCm39) V68A possibly damaging Het
Asap2 T C 12: 21,315,961 (GRCm39) S960P probably damaging Het
Atp2b1 T A 10: 98,851,491 (GRCm39) N66K probably damaging Het
Cckar C T 5: 53,863,632 (GRCm39) G39R probably damaging Het
Cimap1a A G 7: 140,428,208 (GRCm39) M7V probably benign Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Cpb1 C A 3: 20,329,654 (GRCm39) R24L probably benign Het
Dlg5 T G 14: 24,204,699 (GRCm39) R1258S probably damaging Het
Fanci A G 7: 79,054,914 (GRCm39) Q148R probably benign Het
Fcgbp T A 7: 27,784,535 (GRCm39) Y198* probably null Het
Gapt G C 13: 110,490,273 (GRCm39) T130R probably damaging Het
Garin5b T A 7: 4,760,588 (GRCm39) probably null Het
Glis1 A G 4: 107,472,239 (GRCm39) E272G probably damaging Het
Gm13741 T C 2: 87,486,578 (GRCm39) N229S probably benign Het
Gsdmc4 T A 15: 63,763,922 (GRCm39) I392F probably damaging Het
H2-M2 T C 17: 37,793,521 (GRCm39) T162A probably benign Het
Hk2 G A 6: 82,720,949 (GRCm39) R190W probably damaging Het
Irf1 T C 11: 53,664,548 (GRCm39) *52R probably null Het
Lman2l T A 1: 36,484,314 (GRCm39) M1L unknown Het
Mtrf1 T C 14: 79,639,030 (GRCm39) L54S probably benign Het
Myo5c A T 9: 75,178,873 (GRCm39) L676F probably damaging Het
Ofcc1 A G 13: 40,226,174 (GRCm39) I786T probably damaging Het
Or5p64 AGGT A 7: 107,855,228 (GRCm39) probably benign Het
Or5p64 GGTAG GG 7: 107,855,229 (GRCm39) probably benign Het
Pfn1 G A 11: 70,542,964 (GRCm39) R137C probably benign Het
Pgbd5 G A 8: 125,111,032 (GRCm39) R129* probably null Het
Pibf1 T C 14: 99,388,179 (GRCm39) probably null Het
Pkd2l1 A G 19: 44,142,861 (GRCm39) probably null Het
Plin5 C A 17: 56,421,020 (GRCm39) R215L probably damaging Het
Prrc2c C T 1: 162,533,550 (GRCm39) probably benign Het
Rnasel T G 1: 153,635,345 (GRCm39) C608G probably benign Het
Slc28a2 T A 2: 122,281,465 (GRCm39) V218D probably damaging Het
Snx1 T C 9: 66,016,841 (GRCm39) I29V probably benign Het
Tenm3 A G 8: 48,752,000 (GRCm39) W939R probably damaging Het
Tmem237 C A 1: 59,157,164 (GRCm39) R15L probably damaging Het
Tmx3 T C 18: 90,555,324 (GRCm39) V347A probably benign Het
Vmn1r191 T C 13: 22,363,389 (GRCm39) T122A probably benign Het
Wdfy4 G T 14: 32,869,049 (GRCm39) N326K probably benign Het
Zfp408 A G 2: 91,475,528 (GRCm39) L642P probably benign Het
Zfp808 C A 13: 62,319,487 (GRCm39) H239N possibly 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
IGL02321:Mgat1 APN 11 49,152,536 (GRCm39) missense probably benign 0.04
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
Predicted Primers PCR Primer
(F):5'- AGGGAACATGTCAGCTTAATCCTGC -3'
(R):5'- TGGCTGCACGGCAATGTTACTC -3'

Sequencing Primer
(F):5'- TAAACCCTTAGTGTGGGGACC -3'
(R):5'- ACGGCAATGTTACTCAGGTC -3'
Posted On 2014-01-05