Incidental Mutation 'IGL01328:Alg14'
ID 74372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alg14
Ensembl Gene ENSMUSG00000039887
Gene Name asparagine-linked glycosylation 14
Synonyms 5430428G01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01328
Quality Score
Status
Chromosome 3
Chromosomal Location 121085422-121156743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121155232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 151 (V151I)
Ref Sequence ENSEMBL: ENSMUSP00000038387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039442] [ENSMUST00000199554]
AlphaFold Q9D081
Predicted Effect probably benign
Transcript: ENSMUST00000039442
AA Change: V151I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000038387
Gene: ENSMUSG00000039887
AA Change: V151I

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:Alg14 39 216 1.9e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199554
SMART Domains Protein: ENSMUSP00000142857
Gene: ENSMUSG00000039887

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 62 79 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 C T 18: 59,181,954 (GRCm39) S1131F possibly damaging Het
Ano5 G A 7: 51,206,019 (GRCm39) probably null Het
Arhgef28 A T 13: 98,106,831 (GRCm39) C698S probably damaging Het
Cacnb4 T C 2: 52,354,637 (GRCm39) H247R probably damaging Het
Clec12b A T 6: 129,356,517 (GRCm39) W216R probably damaging Het
Clnk C T 5: 38,941,871 (GRCm39) S35N possibly damaging Het
Cnot4 T A 6: 35,055,049 (GRCm39) N80I probably damaging Het
Cntn5 C T 9: 9,781,773 (GRCm39) M635I probably damaging Het
Dlg5 A G 14: 24,252,419 (GRCm39) V107A probably damaging Het
Dsc2 A T 18: 20,181,343 (GRCm39) F155I probably damaging Het
Dtwd1 A G 2: 126,006,739 (GRCm39) I254V probably damaging Het
Dzip3 A T 16: 48,792,621 (GRCm39) D221E probably damaging Het
F13b T A 1: 139,435,820 (GRCm39) probably benign Het
Fam131b G A 6: 42,295,206 (GRCm39) L324F probably damaging Het
Fam83a A T 15: 57,849,901 (GRCm39) R148S probably damaging Het
Farsb T C 1: 78,447,729 (GRCm39) I236V probably benign Het
Fat4 T A 3: 39,034,807 (GRCm39) F2820I probably damaging Het
Fat4 T A 3: 38,944,140 (GRCm39) V1011E probably damaging Het
Fgf7 A G 2: 125,930,164 (GRCm39) E99G probably damaging Het
Fign T C 2: 63,809,216 (GRCm39) T685A probably damaging Het
Fubp1 G A 3: 151,925,855 (GRCm39) G289E probably damaging Het
Gata6 G T 18: 11,064,530 (GRCm39) M477I probably damaging Het
Gm14496 A G 2: 181,637,673 (GRCm39) Y249C probably damaging Het
Hectd1 T C 12: 51,807,904 (GRCm39) D1768G probably damaging Het
Htatip2 T A 7: 49,420,697 (GRCm39) probably null Het
Irs2 C A 8: 11,054,792 (GRCm39) Q1213H probably damaging Het
Jak3 C T 8: 72,132,264 (GRCm39) R210C probably damaging Het
Klk1b27 T C 7: 43,705,303 (GRCm39) S157P probably damaging Het
Klri1 T C 6: 129,675,800 (GRCm39) S157G probably damaging Het
Mtmr2 G T 9: 13,713,223 (GRCm39) G395* probably null Het
Mx1 T A 16: 97,256,832 (GRCm39) I116F probably damaging Het
Oip5 A C 2: 119,442,314 (GRCm39) M200R possibly damaging Het
Or10ag56 T A 2: 87,139,925 (GRCm39) L284Q possibly damaging Het
Or10g3 T C 14: 52,609,967 (GRCm39) D181G probably damaging Het
Or4b1d T C 2: 89,969,418 (GRCm39) K22E probably benign Het
Or4k39 A G 2: 111,239,564 (GRCm39) Y268C probably damaging Het
Pamr1 T A 2: 102,472,482 (GRCm39) S594T probably benign Het
Phf13 C T 4: 152,080,285 (GRCm39) E13K probably benign Het
Plekha6 A T 1: 133,200,074 (GRCm39) probably null Het
Rad17 A C 13: 100,754,311 (GRCm39) N636K probably benign Het
Rad21 T A 15: 51,836,520 (GRCm39) D217V probably damaging Het
Slc7a10 A G 7: 34,885,917 (GRCm39) D4G possibly damaging Het
Stc1 A G 14: 69,275,726 (GRCm39) D173G probably benign Het
Supt16 C T 14: 52,414,489 (GRCm39) E438K probably benign Het
Tex15 C T 8: 34,061,424 (GRCm39) Q559* probably null Het
Trim44 T A 2: 102,230,365 (GRCm39) E222V probably benign Het
Ubr5 T C 15: 37,981,767 (GRCm39) E2343G possibly damaging Het
Vmn2r86 T C 10: 130,288,365 (GRCm39) T379A possibly damaging Het
Vmn2r93 A G 17: 18,545,819 (GRCm39) T564A probably benign Het
Vsir C A 10: 60,203,539 (GRCm39) probably benign Het
Vwc2l T A 1: 70,768,163 (GRCm39) probably null Het
Xrn2 T C 2: 146,871,850 (GRCm39) V396A possibly damaging Het
Zbbx T A 3: 75,000,382 (GRCm39) K208* probably null Het
Zfhx4 C A 3: 5,309,344 (GRCm39) L857M probably damaging Het
Zfp180 A G 7: 23,800,904 (GRCm39) D53G probably benign Het
Other mutations in Alg14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0833:Alg14 UTSW 3 121,092,259 (GRCm39) missense probably damaging 1.00
R0836:Alg14 UTSW 3 121,092,259 (GRCm39) missense probably damaging 1.00
R1847:Alg14 UTSW 3 121,155,415 (GRCm39) missense probably damaging 0.99
R5858:Alg14 UTSW 3 121,113,737 (GRCm39) utr 3 prime probably benign
R7647:Alg14 UTSW 3 121,155,334 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07