Incidental Mutation 'R5083:Mgat3'
ID 387277
Institutional Source Beutler Lab
Gene Symbol Mgat3
Ensembl Gene ENSMUSG00000042428
Gene Name mannoside acetylglucosaminyltransferase 3
Synonyms GnT-III, 1110038J12Rik
MMRRC Submission 042672-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R5083 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 80057922-80099720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80095499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 109 (V109M)
Ref Sequence ENSEMBL: ENSMUSP00000043077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044970]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000044970
AA Change: V109M

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043077
Gene: ENSMUSG00000042428
AA Change: V109M

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
low complexity region 73 87 N/A INTRINSIC
Pfam:Glyco_transf_17 191 362 3.2e-28 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced DEN and PB-induced hepatic tumors and reduced hepatocyte proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik C T 17: 48,473,558 (GRCm39) V120M possibly damaging Het
Abca6 T C 11: 110,109,793 (GRCm39) D646G probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Arid1b A G 17: 5,364,293 (GRCm39) T554A possibly damaging Het
Atp2a3 G T 11: 72,873,652 (GRCm39) V824L probably null Het
Bet1 T C 6: 4,077,895 (GRCm39) I115V possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cfap65 A G 1: 74,945,600 (GRCm39) S1373P probably damaging Het
Chd9 T C 8: 91,711,002 (GRCm39) L353P probably damaging Het
Chil3 C A 3: 106,071,405 (GRCm39) probably null Het
Comp C T 8: 70,833,950 (GRCm39) T655M probably damaging Het
Dctd T C 8: 48,564,751 (GRCm39) Y18H probably damaging Het
Ddx39b G A 17: 35,472,005 (GRCm39) G348D possibly damaging Het
Dhx36 A T 3: 62,379,420 (GRCm39) S889R probably benign Het
Dtx2 T C 5: 136,041,044 (GRCm39) Y150H probably damaging Het
Epx A G 11: 87,763,506 (GRCm39) F238S probably damaging Het
Ergic2 T C 6: 148,097,512 (GRCm39) T154A probably benign Het
Esco1 A G 18: 10,594,734 (GRCm39) I184T probably benign Het
Esf1 G T 2: 139,998,991 (GRCm39) A495E possibly damaging Het
Esf1 T C 2: 140,000,499 (GRCm39) Y429C possibly damaging Het
Fcho1 C A 8: 72,169,820 (GRCm39) R101L probably benign Het
Foxn4 T A 5: 114,394,988 (GRCm39) D313V probably damaging Het
Gm11568 T C 11: 99,748,798 (GRCm39) M1T probably null Het
Gphn T A 12: 78,670,063 (GRCm39) probably null Het
Grid2 C T 6: 64,297,136 (GRCm39) Q500* probably null Het
Igsf10 A G 3: 59,233,694 (GRCm39) S1680P probably damaging Het
Ints12 T C 3: 132,806,538 (GRCm39) M155T possibly damaging Het
Invs A T 4: 48,396,307 (GRCm39) M327L possibly damaging Het
Kdm3a T C 6: 71,598,346 (GRCm39) E180G probably damaging Het
Mrgprb3 A G 7: 48,292,762 (GRCm39) V263A probably benign Het
Mroh7 A T 4: 106,547,515 (GRCm39) V1109D probably benign Het
Myo15b A T 11: 115,757,482 (GRCm39) T1111S probably benign Het
Myo19 G T 11: 84,794,037 (GRCm39) A654S possibly damaging Het
Mypn A T 10: 62,954,307 (GRCm39) V1224D probably damaging Het
Nalcn A G 14: 123,560,706 (GRCm39) probably null Het
Or2a52 G T 6: 43,144,273 (GRCm39) A94S probably benign Het
Or52e7 A T 7: 104,684,618 (GRCm39) Y71F probably damaging Het
Or8c10 G A 9: 38,279,358 (GRCm39) C172Y possibly damaging Het
Pdcd2 A G 17: 15,743,084 (GRCm39) I247T possibly damaging Het
Pik3c2a A T 7: 115,941,636 (GRCm39) N1571K probably damaging Het
Plagl2 T C 2: 153,077,964 (GRCm39) T6A probably benign Het
Ros1 T A 10: 52,040,037 (GRCm39) Y318F possibly damaging Het
Sdccag8 C A 1: 176,652,458 (GRCm39) H70N probably damaging Het
Skint1 A G 4: 111,886,630 (GRCm39) R359G probably benign Het
Slc44a5 A T 3: 153,953,424 (GRCm39) I269L probably benign Het
Slfn10-ps T A 11: 82,921,341 (GRCm39) noncoding transcript Het
Suclg1 C A 6: 73,240,963 (GRCm39) T164K probably benign Het
Tgds C A 14: 118,353,491 (GRCm39) probably null Het
Ttn T C 2: 76,643,877 (GRCm39) D13117G probably damaging Het
Ttn T C 2: 76,701,081 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,483,671 (GRCm39) I843N possibly damaging Het
Vmn2r52 A T 7: 9,893,392 (GRCm39) Y582* probably null Het
Vps33b G T 7: 79,924,389 (GRCm39) K65N probably damaging Het
Zfp1010 A G 2: 176,957,364 (GRCm39) F45L probably damaging Het
Other mutations in Mgat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Mgat3 APN 15 80,096,634 (GRCm39) missense probably damaging 1.00
IGL01134:Mgat3 APN 15 80,096,377 (GRCm39) missense probably benign 0.17
R0077:Mgat3 UTSW 15 80,096,778 (GRCm39) missense probably benign 0.00
R1171:Mgat3 UTSW 15 80,095,838 (GRCm39) missense probably benign 0.26
R1885:Mgat3 UTSW 15 80,095,820 (GRCm39) missense probably benign 0.25
R1886:Mgat3 UTSW 15 80,095,820 (GRCm39) missense probably benign 0.25
R1986:Mgat3 UTSW 15 80,096,390 (GRCm39) missense probably benign 0.04
R2125:Mgat3 UTSW 15 80,096,087 (GRCm39) missense probably benign 0.00
R3081:Mgat3 UTSW 15 80,096,055 (GRCm39) missense probably benign 0.33
R4819:Mgat3 UTSW 15 80,096,550 (GRCm39) missense probably damaging 1.00
R4992:Mgat3 UTSW 15 80,096,743 (GRCm39) missense probably benign
R5356:Mgat3 UTSW 15 80,096,655 (GRCm39) missense probably damaging 1.00
R5356:Mgat3 UTSW 15 80,095,811 (GRCm39) missense possibly damaging 0.88
R6508:Mgat3 UTSW 15 80,096,225 (GRCm39) missense possibly damaging 0.90
R6784:Mgat3 UTSW 15 80,096,401 (GRCm39) missense probably damaging 0.98
R7021:Mgat3 UTSW 15 80,096,655 (GRCm39) missense probably damaging 1.00
R7056:Mgat3 UTSW 15 80,096,097 (GRCm39) missense probably damaging 0.99
R7592:Mgat3 UTSW 15 80,095,193 (GRCm39) missense probably damaging 0.96
R7774:Mgat3 UTSW 15 80,095,743 (GRCm39) missense probably damaging 0.96
R7819:Mgat3 UTSW 15 80,095,973 (GRCm39) nonsense probably null
R8559:Mgat3 UTSW 15 80,096,370 (GRCm39) missense probably damaging 1.00
R8678:Mgat3 UTSW 15 80,096,472 (GRCm39) missense possibly damaging 0.74
R9285:Mgat3 UTSW 15 80,096,538 (GRCm39) missense probably damaging 1.00
R9483:Mgat3 UTSW 15 80,095,641 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCTGGAACAATGCCCCTGTC -3'
(R):5'- TGGAATACTGCACCACCGTG -3'

Sequencing Primer
(F):5'- GAACAATGCCCCTGTCACTCC -3'
(R):5'- AACCCACTTGCGCCTAGTG -3'
Posted On 2016-06-06