Incidental Mutation 'IGL01395:Alg8'
ID 79388
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alg8
Ensembl Gene ENSMUSG00000035704
Gene Name ALG8 alpha-1,3-glucosyltransferase
Synonyms LOC381903
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01395
Quality Score
Status
Chromosome 7
Chromosomal Location 97020813-97041392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97027383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 84 (Y84N)
Ref Sequence ENSEMBL: ENSMUSP00000095901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098300]
AlphaFold Q6P8H8
Predicted Effect possibly damaging
Transcript: ENSMUST00000098300
AA Change: Y84N

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095901
Gene: ENSMUSG00000035704
AA Change: Y84N

DomainStartEndE-ValueType
Pfam:Alg6_Alg8 21 510 1.3e-165 PFAM
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 encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging Het
Other mutations in Alg8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02349:Alg8 APN 7 97,029,101 (GRCm39) missense possibly damaging 0.95
IGL02441:Alg8 APN 7 97,029,504 (GRCm39) missense probably benign 0.04
R0238:Alg8 UTSW 7 97,032,891 (GRCm39) critical splice acceptor site probably null
R0238:Alg8 UTSW 7 97,032,891 (GRCm39) critical splice acceptor site probably null
R0239:Alg8 UTSW 7 97,032,891 (GRCm39) critical splice acceptor site probably null
R0239:Alg8 UTSW 7 97,032,891 (GRCm39) critical splice acceptor site probably null
R1109:Alg8 UTSW 7 97,032,891 (GRCm39) critical splice acceptor site probably null
R1429:Alg8 UTSW 7 97,039,499 (GRCm39) missense probably benign 0.18
R3838:Alg8 UTSW 7 97,037,752 (GRCm39) missense probably damaging 1.00
R5343:Alg8 UTSW 7 97,036,126 (GRCm39) missense possibly damaging 0.53
R5622:Alg8 UTSW 7 97,036,006 (GRCm39) splice site probably benign
R5910:Alg8 UTSW 7 97,039,493 (GRCm39) missense possibly damaging 0.67
R5963:Alg8 UTSW 7 97,029,037 (GRCm39) missense probably benign 0.00
R6484:Alg8 UTSW 7 97,032,135 (GRCm39) missense probably benign
R6735:Alg8 UTSW 7 97,032,189 (GRCm39) missense probably benign 0.05
R7896:Alg8 UTSW 7 97,040,123 (GRCm39) missense probably damaging 1.00
R7957:Alg8 UTSW 7 97,040,131 (GRCm39) missense probably benign 0.04
R7958:Alg8 UTSW 7 97,036,128 (GRCm39) missense possibly damaging 0.65
R9226:Alg8 UTSW 7 97,027,423 (GRCm39) missense probably damaging 1.00
R9701:Alg8 UTSW 7 97,027,486 (GRCm39) missense possibly damaging 0.87
R9802:Alg8 UTSW 7 97,027,486 (GRCm39) missense possibly damaging 0.87
Z1176:Alg8 UTSW 7 97,032,968 (GRCm39) missense probably benign 0.01
Z1177:Alg8 UTSW 7 97,020,869 (GRCm39) missense probably benign
Posted On 2013-11-05