Incidental Mutation 'R3898:Alg1'
ID 309073
Institutional Source Beutler Lab
Gene Symbol Alg1
Ensembl Gene ENSMUSG00000039427
Gene Name ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
Synonyms HMT1, HMAT1
MMRRC Submission 040906-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3898 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 5051485-5062776 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 5054253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 154 (I154L)
Ref Sequence ENSEMBL: ENSMUSP00000097770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049207] [ENSMUST00000100196]
AlphaFold Q921Q3
Predicted Effect possibly damaging
Transcript: ENSMUST00000049207
AA Change: I128L

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046534
Gene: ENSMUSG00000039427
AA Change: I128L

DomainStartEndE-ValueType
transmembrane domain 5 23 N/A INTRINSIC
Pfam:Glycos_transf_1 246 422 8e-14 PFAM
Pfam:Glyco_trans_1_4 250 400 1.4e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100196
AA Change: I154L

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097770
Gene: ENSMUSG00000039427
AA Change: I154L

DomainStartEndE-ValueType
transmembrane domain 5 23 N/A INTRINSIC
Pfam:Glycos_transf_1 270 447 2.4e-13 PFAM
Pfam:Glyco_trans_1_4 276 426 1.5e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153730
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankra2 C T 13: 98,410,317 (GRCm39) L136F probably benign Het
Anpep A G 7: 79,488,973 (GRCm39) S372P probably benign Het
Cabyr T C 18: 12,884,580 (GRCm39) S356P probably benign Het
Cad G T 5: 31,231,366 (GRCm39) C1633F probably benign Het
Cadps2 G A 6: 23,528,125 (GRCm39) R425W probably damaging Het
Ccdc180 A G 4: 45,912,799 (GRCm39) K593E possibly damaging Het
Cdh8 T A 8: 99,898,005 (GRCm39) E436V probably damaging Het
Cfap95 A G 19: 23,570,466 (GRCm39) V101A probably benign Het
Cln6 T G 9: 62,757,934 (GRCm39) F231C probably damaging Het
Cul2 A G 18: 3,434,033 (GRCm39) K677E probably benign Het
Cyp2c69 T C 19: 39,864,834 (GRCm39) I215V probably benign Het
Dhx36 T C 3: 62,399,790 (GRCm39) D393G probably damaging Het
Dnah7b T C 1: 46,282,417 (GRCm39) V2850A probably damaging Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Drg2 T A 11: 60,347,460 (GRCm39) S50T probably benign Het
Ecscr A G 18: 35,846,705 (GRCm39) S230P possibly damaging Het
Eif2ak4 T C 2: 118,261,404 (GRCm39) V527A probably damaging Het
Elfn1 G A 5: 139,957,719 (GRCm39) R241H probably damaging Het
Fchsd2 A G 7: 100,841,006 (GRCm39) K172E possibly damaging Het
Fli1 C T 9: 32,388,018 (GRCm39) G24R possibly damaging Het
Frmd3 A G 4: 73,992,346 (GRCm39) D71G probably damaging Het
Ggnbp1 A G 17: 27,244,312 (GRCm39) probably benign Het
Gpat2 T C 2: 127,277,018 (GRCm39) F713S probably damaging Het
H2-Q2 C T 17: 35,561,743 (GRCm39) P78S probably damaging Het
Kcnq2 C T 2: 180,751,479 (GRCm39) A306T probably damaging Het
Lmntd1 G A 6: 145,359,152 (GRCm39) P333S probably benign Het
Lrp1 G A 10: 127,427,969 (GRCm39) R535* probably null Het
Mmrn2 G T 14: 34,121,517 (GRCm39) probably null Het
Nlrp1a G A 11: 71,013,700 (GRCm39) P517S probably benign Het
Or2y13 A T 11: 49,415,386 (GRCm39) I279F probably damaging Het
Pou4f1 T C 14: 104,703,165 (GRCm39) *422W probably null Het
Ptpn14 C T 1: 189,582,728 (GRCm39) P525L probably benign Het
Pyroxd2 C A 19: 42,728,831 (GRCm39) G190C probably damaging Het
Rd3 T C 1: 191,717,217 (GRCm39) V114A probably damaging Het
Sptbn5 T C 2: 119,887,691 (GRCm39) noncoding transcript Het
Tbc1d5 A T 17: 51,270,772 (GRCm39) F153Y probably damaging Het
Thop1 G A 10: 80,916,278 (GRCm39) G429S probably damaging Het
Trim30d T A 7: 104,132,736 (GRCm39) I184L probably benign Het
Ubr5 T C 15: 37,997,983 (GRCm39) S1727G probably benign Het
Vezf1 T C 11: 87,966,999 (GRCm39) F77L probably benign Het
Vmn2r12 C T 5: 109,238,370 (GRCm39) A457T probably benign Het
Xirp1 A T 9: 119,848,406 (GRCm39) M159K probably benign Het
Zkscan17 C T 11: 59,394,263 (GRCm39) A113T probably damaging Het
Zyg11a T A 4: 108,067,391 (GRCm39) N40Y probably damaging Het
Other mutations in Alg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01731:Alg1 APN 16 5,062,383 (GRCm39) missense probably benign 0.27
IGL02536:Alg1 APN 16 5,057,023 (GRCm39) nonsense probably null
IGL02576:Alg1 APN 16 5,062,393 (GRCm39) missense possibly damaging 0.89
IGL02961:Alg1 APN 16 5,052,861 (GRCm39) missense probably benign 0.45
FR4976:Alg1 UTSW 16 5,062,425 (GRCm39) frame shift probably null
R1378:Alg1 UTSW 16 5,061,580 (GRCm39) missense probably damaging 1.00
R1797:Alg1 UTSW 16 5,057,007 (GRCm39) missense probably benign 0.00
R5589:Alg1 UTSW 16 5,053,086 (GRCm39) missense probably benign 0.11
R5716:Alg1 UTSW 16 5,057,820 (GRCm39) missense probably damaging 0.96
R8768:Alg1 UTSW 16 5,060,416 (GRCm39) missense probably damaging 1.00
R8849:Alg1 UTSW 16 5,051,532 (GRCm39) missense possibly damaging 0.67
R8868:Alg1 UTSW 16 5,061,557 (GRCm39) missense probably benign 0.21
R9373:Alg1 UTSW 16 5,056,990 (GRCm39) missense probably benign 0.19
R9386:Alg1 UTSW 16 5,059,201 (GRCm39) missense probably damaging 1.00
R9460:Alg1 UTSW 16 5,060,425 (GRCm39) missense probably damaging 1.00
R9540:Alg1 UTSW 16 5,061,595 (GRCm39) missense probably benign 0.00
R9557:Alg1 UTSW 16 5,057,820 (GRCm39) missense probably damaging 0.96
Z1177:Alg1 UTSW 16 5,057,831 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AGGGGATCTTCTTTCTGCCC -3'
(R):5'- ACACAATGAGATGGGCAGCC -3'

Sequencing Primer
(F):5'- CCCGGGCTGATGAGAGC -3'
(R):5'- AGTGGAACTGAGGACCCTGC -3'
Posted On 2015-04-17