Incidental Mutation 'IGL01360:Alg6'
ID75703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alg6
Ensembl Gene ENSMUSG00000073792
Gene Nameasparagine-linked glycosylation 6 (alpha-1,3,-glucosyltransferase)
SynonymsE230028F23Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01360
Quality Score
Status
Chromosome4
Chromosomal Location99715664-99763460 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 99742406 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 161 (Y161N)
Ref Sequence ENSEMBL: ENSMUSP00000095574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097961] [ENSMUST00000107004] [ENSMUST00000139799]
Predicted Effect probably benign
Transcript: ENSMUST00000097961
AA Change: Y161N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000095574
Gene: ENSMUSG00000073792
AA Change: Y161N

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 noncoding transcript
Transcript: ENSMUST00000124147
Predicted Effect probably benign
Transcript: ENSMUST00000139799
SMART Domains Protein: ENSMUSP00000121980
Gene: ENSMUSG00000073792

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: ENSMUST00000141870
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430573F11Rik A G 8: 36,512,559 I439V probably benign Het
Abca12 T A 1: 71,286,489 I1517L possibly damaging Het
Akap12 A T 10: 4,357,537 D1449V probably benign Het
Arhgap45 A T 10: 80,028,648 probably benign Het
Arhgap5 A T 12: 52,518,240 I665F probably damaging Het
Bbs4 A G 9: 59,339,848 V123A possibly damaging Het
Carm1 C T 9: 21,587,302 T480I probably benign Het
Catsperb G A 12: 101,625,254 V1032M probably damaging Het
Cdc42bpb A C 12: 111,342,075 I101S probably damaging Het
Copa C A 1: 172,087,588 probably null Het
Cramp1l T C 17: 24,997,573 I189V probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Egf A T 3: 129,740,020 F57Y probably damaging Het
Flt4 T C 11: 49,643,506 I1168T probably benign Het
Gm12794 A T 4: 101,940,468 D21V possibly damaging Het
Gm14178 A G 11: 99,747,443 S37P unknown Het
Gpbp1 A T 13: 111,426,541 probably benign Het
Herc1 T C 9: 66,483,699 S3980P probably benign Het
Itga6 T C 2: 71,787,326 probably null Het
Itgb4 T C 11: 115,990,940 S772P probably damaging Het
Kcng4 C A 8: 119,625,677 G498V probably benign Het
Lrp1 T G 10: 127,545,820 D3795A possibly damaging Het
Lrrk2 T A 15: 91,700,569 probably null Het
Mettl25 A T 10: 105,823,197 H408Q probably damaging Het
Mki67 T C 7: 135,705,776 E457G probably damaging Het
Mpl G A 4: 118,455,661 T158I possibly damaging Het
Mtg2 C T 2: 180,084,077 T160I probably damaging Het
Mtif2 A G 11: 29,530,110 I59V probably benign Het
Ncapg C A 5: 45,674,385 S191* probably null Het
Nup214 T C 2: 32,038,178 probably benign Het
Olfr1154 T C 2: 87,903,527 T50A probably benign Het
Phf3 T A 1: 30,808,728 T1245S probably damaging Het
Piezo2 T C 18: 63,117,699 D443G probably damaging Het
Ptchd4 C A 17: 42,317,045 H132Q probably benign Het
Pum1 T C 4: 130,728,170 probably benign Het
Slc30a7 A T 3: 115,990,116 V136E probably damaging Het
Slc5a10 A G 11: 61,715,136 V116A probably damaging Het
Sos2 A T 12: 69,590,800 S1046T probably benign Het
Svep1 A G 4: 58,116,554 S899P possibly damaging Het
Tfr2 G A 5: 137,571,691 V120I probably benign Het
Tnfrsf18 A T 4: 156,028,036 R117* probably null Het
Vmn1r77 T G 7: 12,041,388 F30L probably benign Het
Vmn2r112 T C 17: 22,618,622 M688T probably benign Het
Vmn2r93 T A 17: 18,305,248 D389E possibly damaging Het
Zpld1 T G 16: 55,226,385 N407T probably benign Het
Zranb3 C T 1: 127,959,885 W935* probably null Het
Zyx G A 6: 42,350,444 R59Q probably damaging Het
Other mutations in Alg6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Alg6 APN 4 99753054 missense probably damaging 1.00
IGL00816:Alg6 APN 4 99742361 missense probably null
IGL01067:Alg6 APN 4 99741570 missense probably benign 0.14
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
Posted On2013-10-07