Incidental Mutation 'R5207:Alg6'
ID 402070
Institutional Source Beutler Lab
Gene Symbol Alg6
Ensembl Gene ENSMUSG00000073792
Gene Name ALG6 alpha-1,3-glucosyltransferase
Synonyms E230028F23Rik
MMRRC Submission 042782-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5207 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 99603901-99651697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99607431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 15 (L15F)
Ref Sequence ENSEMBL: ENSMUSP00000095574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097961] [ENSMUST00000107004] [ENSMUST00000139799]
AlphaFold Q3TAE8
Predicted Effect possibly damaging
Transcript: ENSMUST00000097961
AA Change: L15F

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095574
Gene: ENSMUSG00000073792
AA Change: L15F

DomainStartEndE-ValueType
Pfam:Alg6_Alg8 14 488 2.1e-148 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000107004
AA Change: L15F
SMART Domains Protein: ENSMUSP00000102617
Gene: ENSMUSG00000073792
AA Change: L15F

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 noncoding transcript
Transcript: ENSMUST00000137473
Predicted Effect possibly damaging
Transcript: ENSMUST00000139799
AA Change: L15F

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121980
Gene: ENSMUSG00000073792
AA Change: L15F

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (60/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A T 1: 179,621,159 (GRCm39) probably benign Het
Allc T A 12: 28,605,325 (GRCm39) M325L probably benign Het
Ap3b2 T C 7: 81,126,517 (GRCm39) N361S possibly damaging Het
Bmp8b A G 4: 123,009,714 (GRCm39) probably benign Het
Borcs6 A T 11: 68,951,674 (GRCm39) T351S probably damaging Het
Ccar1 T C 10: 62,589,060 (GRCm39) R808G unknown Het
Celsr3 A T 9: 108,709,958 (GRCm39) T1480S probably benign Het
Chdh C T 14: 29,753,318 (GRCm39) P76S probably damaging Het
Chmp7 T C 14: 69,969,755 (GRCm39) S62G probably benign Het
Cldn23 A T 8: 36,293,182 (GRCm39) V102E probably damaging Het
Csn2 G A 5: 87,842,821 (GRCm39) Q69* probably null Het
Ctrc A C 4: 141,567,695 (GRCm39) I136S probably damaging Het
Cysltr2 A C 14: 73,266,951 (GRCm39) L253R probably damaging Het
Ddr2 G A 1: 169,812,530 (GRCm39) T654M probably damaging Het
Derl2 G T 11: 70,910,073 (GRCm39) probably null Het
Dnai7 A T 6: 145,124,794 (GRCm39) D510E probably damaging Het
Dock5 T C 14: 68,013,733 (GRCm39) S1330G probably benign Het
Emp3 T C 7: 45,569,373 (GRCm39) N56S probably benign Het
Fam161a A T 11: 22,970,583 (GRCm39) K195* probably null Het
Ficd T A 5: 113,875,072 (GRCm39) V47E probably benign Het
Garin3 T C 11: 46,295,990 (GRCm39) S121P probably benign Het
Gbp10 T C 5: 105,372,575 (GRCm39) T123A probably benign Het
Gdf7 C T 12: 8,348,371 (GRCm39) A309T unknown Het
Gm14486 G T 2: 30,548,572 (GRCm39) noncoding transcript Het
Herc1 T A 9: 66,307,151 (GRCm39) C990* probably null Het
Itgb4 T C 11: 115,897,365 (GRCm39) V1530A probably damaging Het
Itpka G A 2: 119,580,974 (GRCm39) R374H probably damaging Het
Lacc1 T A 14: 77,271,594 (GRCm39) probably null Het
Med23 A T 10: 24,771,734 (GRCm39) K225* probably null Het
Mrgpra3 T A 7: 47,239,909 (GRCm39) T6S probably benign Het
Mroh7 T A 4: 106,578,583 (GRCm39) N32Y probably damaging Het
Mrps2 A G 2: 28,359,763 (GRCm39) R207G probably damaging Het
Mup20 A C 4: 61,969,823 (GRCm39) probably null Het
Nagpa A G 16: 5,017,478 (GRCm39) probably null Het
Nek3 A T 8: 22,622,243 (GRCm39) probably benign Het
Nes G A 3: 87,885,935 (GRCm39) G1398E probably damaging Het
Nf1 G T 11: 79,345,015 (GRCm39) V1323L probably damaging Het
Or5b96 T A 19: 12,867,801 (GRCm39) I47F probably benign Het
Or6b2 A T 1: 92,407,594 (GRCm39) F250I probably benign Het
Or6c2 T C 10: 129,362,773 (GRCm39) F226L probably benign Het
Paqr8 G T 1: 21,005,482 (GRCm39) C212F probably benign Het
Pcdhb1 T C 18: 37,399,515 (GRCm39) Y489H probably damaging Het
Piwil2 T C 14: 70,629,966 (GRCm39) K683E probably damaging Het
Pjvk A C 2: 76,480,734 (GRCm39) probably null Het
Pkd1l3 A T 8: 110,359,823 (GRCm39) S893C probably damaging Het
Plxna2 A G 1: 194,471,207 (GRCm39) T993A probably benign Het
Ppp2r2b A T 18: 42,821,417 (GRCm39) I247N probably damaging Het
Rac2 T C 15: 78,449,654 (GRCm39) N92S probably damaging Het
Senp2 A T 16: 21,860,130 (GRCm39) H501L possibly damaging Het
Snx29 A T 16: 11,556,227 (GRCm39) I753F probably damaging Het
Tcf20 T A 15: 82,740,386 (GRCm39) H355L probably damaging Het
Tex2 T C 11: 106,437,666 (GRCm39) D668G unknown Het
Tlr12 G A 4: 128,510,502 (GRCm39) Q583* probably null Het
Tmem119 T C 5: 113,933,289 (GRCm39) I171V probably damaging Het
Ube2m C T 7: 12,770,249 (GRCm39) probably null Het
Vmn2r25 A T 6: 123,817,062 (GRCm39) I173N probably damaging Het
Whrn A T 4: 63,350,951 (GRCm39) V15E probably damaging Het
Zfp558 A C 9: 18,368,296 (GRCm39) V164G possibly damaging Het
Other mutations in Alg6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Alg6 APN 4 99,641,291 (GRCm39) missense probably damaging 1.00
IGL00816:Alg6 APN 4 99,630,598 (GRCm39) missense probably null
IGL01067:Alg6 APN 4 99,629,807 (GRCm39) missense probably benign 0.14
IGL01360:Alg6 APN 4 99,630,643 (GRCm39) missense probably benign 0.00
IGL02625:Alg6 APN 4 99,634,584 (GRCm39) missense probably damaging 1.00
R0944:Alg6 UTSW 4 99,650,297 (GRCm39) missense probably benign 0.00
R1033:Alg6 UTSW 4 99,650,270 (GRCm39) missense probably benign 0.00
R1764:Alg6 UTSW 4 99,629,815 (GRCm39) missense probably benign 0.02
R1852:Alg6 UTSW 4 99,634,599 (GRCm39) missense probably benign 0.03
R2020:Alg6 UTSW 4 99,626,369 (GRCm39) missense probably damaging 0.98
R2248:Alg6 UTSW 4 99,626,444 (GRCm39) missense probably damaging 0.98
R4515:Alg6 UTSW 4 99,641,023 (GRCm39) intron probably benign
R4976:Alg6 UTSW 4 99,638,965 (GRCm39) critical splice acceptor site probably null
R5444:Alg6 UTSW 4 99,629,816 (GRCm39) missense probably benign 0.09
R5739:Alg6 UTSW 4 99,632,737 (GRCm39) missense probably benign 0.01
R7060:Alg6 UTSW 4 99,650,198 (GRCm39) missense possibly damaging 0.85
R7432:Alg6 UTSW 4 99,641,295 (GRCm39) missense probably benign 0.01
R7476:Alg6 UTSW 4 99,632,113 (GRCm39) missense probably damaging 1.00
R7498:Alg6 UTSW 4 99,636,933 (GRCm39) missense probably damaging 1.00
R7585:Alg6 UTSW 4 99,626,371 (GRCm39) missense probably damaging 0.99
R8145:Alg6 UTSW 4 99,634,564 (GRCm39) missense probably damaging 0.99
R9621:Alg6 UTSW 4 99,615,131 (GRCm39) nonsense probably null
R9739:Alg6 UTSW 4 99,650,195 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- TTTCTCCCTAGGCTACAAAGAC -3'
(R):5'- CAGTCTGTCATCCTCCAAGC -3'

Sequencing Primer
(F):5'- TCTCCCTAGGCTACAAAGACATAATC -3'
(R):5'- AGTCTGTCATCCTCCAAGCTAGAG -3'
Posted On 2016-07-22