Incidental Mutation 'IGL00229:Alg6'
ID 2431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alg6
Ensembl Gene ENSMUSG00000073792
Gene Name asparagine-linked glycosylation 6 (alpha-1,3,-glucosyltransferase)
Synonyms E230028F23Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL00229
Quality Score
Status
Chromosome 4
Chromosomal Location 99715664-99763460 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99753054 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 152 (F152I)
Ref Sequence ENSEMBL: ENSMUSP00000121980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097961] [ENSMUST00000107004] [ENSMUST00000139799]
AlphaFold Q3TAE8
Predicted Effect probably damaging
Transcript: ENSMUST00000097961
AA Change: F397I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095574
Gene: ENSMUSG00000073792
AA Change: F397I

DomainStartEndE-ValueType
Pfam:Alg6_Alg8 14 488 2.1e-148 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107004
SMART Domains Protein: ENSMUSP00000102617
Gene: ENSMUSG00000073792

DomainStartEndE-ValueType
Pfam:Alg6_Alg8 12 59 8.2e-21 PFAM
Pfam:Alg6_Alg8 57 204 5.1e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139799
AA Change: F152I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121980
Gene: ENSMUSG00000073792
AA Change: F152I

DomainStartEndE-ValueType
Pfam:Alg6_Alg8 12 57 2.5e-19 PFAM
Pfam:Alg6_Alg8 54 158 2.2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144805
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 first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A G 13: 63,199,500 probably benign Het
9030624J02Rik T A 7: 118,804,191 probably benign Het
Abca4 A G 3: 122,170,954 T929A probably damaging Het
Adam6b G A 12: 113,491,393 R610H probably damaging Het
Adamts12 T A 15: 11,311,599 M1314K probably benign Het
Arid5b A G 10: 68,128,975 S289P probably damaging Het
Axin1 T C 17: 26,194,072 F780L probably damaging Het
C87499 A G 4: 88,629,053 I214T probably damaging Het
C9 C T 15: 6,483,231 S278L possibly damaging Het
Calr4 A T 4: 109,244,115 I65F probably damaging Het
Cdh23 A G 10: 60,523,548 V260A probably benign Het
Ddx25 T C 9: 35,543,595 probably benign Het
Dppa4 A G 16: 48,291,083 T92A possibly damaging Het
Ercc5 T C 1: 44,163,898 Y232H probably damaging Het
Exoc4 A G 6: 33,918,399 probably null Het
Fam149a A G 8: 45,351,786 V253A probably damaging Het
Fam209 C T 2: 172,474,182 T159I probably damaging Het
Gcfc2 A T 6: 81,936,015 N265I probably damaging Het
Glud1 T C 14: 34,336,130 V366A probably benign Het
Hdac10 T C 15: 89,128,442 T3A probably damaging Het
Ifnar1 T C 16: 91,489,782 S54P probably damaging Het
Itpr2 T C 6: 146,144,185 Y2561C probably damaging Het
Klhl30 A G 1: 91,354,157 E160G possibly damaging Het
Kmt2d A T 15: 98,862,333 S1015T unknown Het
Lactb2 A G 1: 13,660,374 M26T probably damaging Het
Lactbl1 A T 4: 136,631,051 D111V probably damaging Het
Lig4 T C 8: 9,972,775 Y335C probably damaging Het
Lrrc8e T A 8: 4,235,921 D715E probably benign Het
Med6 A T 12: 81,579,574 V142D possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mettl13 A G 1: 162,535,865 V600A possibly damaging Het
Mpdz A T 4: 81,310,224 C1314* probably null Het
Nbeal2 A G 9: 110,635,869 V1009A probably damaging Het
Nmur2 A G 11: 56,040,777 L36P probably damaging Het
Nudt2 T A 4: 41,480,474 L119Q probably damaging Het
Olfr1472 T C 19: 13,453,840 M226V possibly damaging Het
Osbpl3 C T 6: 50,323,068 E519K probably damaging Het
Pak6 A T 2: 118,689,845 T106S possibly damaging Het
Pggt1b T G 18: 46,280,719 Q34P probably benign Het
Phactr4 T C 4: 132,370,992 T322A possibly damaging Het
Plekhj1 T C 10: 80,796,602 probably null Het
Pnpt1 T C 11: 29,154,217 probably null Het
Prr14l T C 5: 32,830,676 I492V probably benign Het
Ranbp2 C A 10: 58,477,256 A1266E probably damaging Het
Riok3 G A 18: 12,137,020 D140N probably damaging Het
Rsph4a G A 10: 33,914,343 E643K probably damaging Het
Scara3 T G 14: 65,933,121 E103A probably benign Het
Sgk3 T C 1: 9,868,384 V33A probably damaging Het
Slc38a4 A G 15: 96,999,494 F480S probably damaging Het
Slc44a1 G A 4: 53,543,571 V372M probably damaging Het
Slc9a2 A G 1: 40,767,737 Y728C probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Spidr A T 16: 15,895,578 L847Q probably damaging Het
Sptb A G 12: 76,620,753 S857P probably benign Het
Syde1 A G 10: 78,585,809 V636A probably damaging Het
Syna A G 5: 134,559,717 L126P possibly damaging Het
Taar2 A G 10: 23,941,368 T269A possibly damaging Het
Tapbp C T 17: 33,925,704 T258I probably damaging Het
Tcf20 T A 15: 82,857,142 Q36L possibly damaging Het
Tmem131l A T 3: 83,942,500 M260K probably damaging Het
Tnc T A 4: 64,016,824 probably benign Het
Ugp2 T A 11: 21,354,345 E27D probably benign Het
Wdr27 A T 17: 14,928,310 C140* probably null Het
Wnt2b T C 3: 104,953,133 T153A possibly damaging Het
Xirp2 A T 2: 67,513,375 T1987S probably benign Het
Zfp36l1 C A 12: 80,110,464 G48C probably damaging Het
Zfp474 A T 18: 52,638,493 I73F possibly damaging Het
Zfp790 T A 7: 29,828,563 F224L probably benign Het
Other mutations in Alg6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Alg6 APN 4 99742361 missense probably null
IGL01067:Alg6 APN 4 99741570 missense probably benign 0.14
IGL01360:Alg6 APN 4 99742406 missense probably benign 0.00
IGL02625:Alg6 APN 4 99746347 missense probably damaging 1.00
R0944:Alg6 UTSW 4 99762060 missense probably benign 0.00
R1033:Alg6 UTSW 4 99762033 missense probably benign 0.00
R1764:Alg6 UTSW 4 99741578 missense probably benign 0.02
R1852:Alg6 UTSW 4 99746362 missense probably benign 0.03
R2020:Alg6 UTSW 4 99738132 missense probably damaging 0.98
R2248:Alg6 UTSW 4 99738207 missense probably damaging 0.98
R4515:Alg6 UTSW 4 99752786 intron probably benign
R4976:Alg6 UTSW 4 99750728 critical splice acceptor site probably null
R5207:Alg6 UTSW 4 99719194 missense possibly damaging 0.79
R5444:Alg6 UTSW 4 99741579 missense probably benign 0.09
R5739:Alg6 UTSW 4 99744500 missense probably benign 0.01
R7060:Alg6 UTSW 4 99761961 missense possibly damaging 0.85
R7432:Alg6 UTSW 4 99753058 missense probably benign 0.01
R7476:Alg6 UTSW 4 99743876 missense probably damaging 1.00
R7498:Alg6 UTSW 4 99748696 missense probably damaging 1.00
R7585:Alg6 UTSW 4 99738134 missense probably damaging 0.99
R8145:Alg6 UTSW 4 99746327 missense probably damaging 0.99
Posted On 2011-12-09