Incidental Mutation 'R7847:Alg9'
ID 606690
Institutional Source Beutler Lab
Gene Symbol Alg9
Ensembl Gene ENSMUSG00000032059
Gene Name ALG9 alpha-1,2-mannosyltransferase
Synonyms B430313H07Rik, 8230402H15Rik, Dibd1
MMRRC Submission 045901-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7847 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 50686570-50754939 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50700905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 225 (L225S)
Ref Sequence ENSEMBL: ENSMUSP00000034561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000159576] [ENSMUST00000162073]
AlphaFold Q8VDI9
Predicted Effect possibly damaging
Transcript: ENSMUST00000034561
AA Change: L225S

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: L225S

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 60 482 3.5e-127 PFAM
low complexity region 598 611 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159576
SMART Domains Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 60 228 1e-43 PFAM
Predicted Effect silent
Transcript: ENSMUST00000162073
SMART Domains Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 60 167 7.5e-31 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T A 17: 35,879,549 (GRCm39) Y296N probably benign Het
Abcc4 T C 14: 118,864,892 (GRCm39) E378G probably damaging Het
Acp2 C T 2: 91,041,077 (GRCm39) H422Y possibly damaging Het
Aldoart1 C T 4: 72,770,193 (GRCm39) C205Y probably damaging Het
Anapc1 A C 2: 128,511,828 (GRCm39) V455G possibly damaging Het
Arhgef5 C A 6: 43,252,069 (GRCm39) S940* probably null Het
Asb15 C A 6: 24,564,266 (GRCm39) A240E probably damaging Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Ccdc17 A G 4: 116,457,103 (GRCm39) E529G probably benign Het
Cyp2b10 T C 7: 25,597,185 (GRCm39) S26P possibly damaging Het
Dcp1b T C 6: 119,192,256 (GRCm39) S391P probably benign Het
Dock6 A T 9: 21,712,503 (GRCm39) L2086Q unknown Het
Ephx1 A G 1: 180,829,426 (GRCm39) S41P probably benign Het
Erbb3 G A 10: 128,407,058 (GRCm39) T1034M probably damaging Het
Gm17334 T A 11: 53,663,564 (GRCm39) probably benign Het
Golgb1 A G 16: 36,752,282 (GRCm39) H3227R probably damaging Het
Grin2c G A 11: 115,151,804 (GRCm39) P52L possibly damaging Het
Herc2 T C 7: 55,807,308 (GRCm39) probably null Het
Il17rb A G 14: 29,718,763 (GRCm39) Y440H probably damaging Het
Kcng4 A G 8: 120,352,881 (GRCm39) L343P probably damaging Het
Knl1 G A 2: 118,901,457 (GRCm39) E1053K probably benign Het
Lipo4 A T 19: 33,491,599 (GRCm39) V128E possibly damaging Het
Lmntd2 T C 7: 140,790,063 (GRCm39) N650D probably benign Het
Lrrfip2 T C 9: 111,042,948 (GRCm39) L460P probably damaging Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Mtcl1 T C 17: 66,651,328 (GRCm39) Q1379R probably damaging Het
Mtfr2 G A 10: 20,233,198 (GRCm39) A256T probably benign Het
Mup17 T A 4: 61,511,456 (GRCm39) H159L probably benign Het
Ndufaf1 A T 2: 119,490,534 (GRCm39) D175E probably damaging Het
Nup210l A G 3: 90,058,430 (GRCm39) M610V probably benign Het
Or10ak14 G T 4: 118,611,565 (GRCm39) H59N possibly damaging Het
Or7a38 T A 10: 78,752,730 (GRCm39) S19T probably benign Het
Or8g35 A G 9: 39,381,801 (GRCm39) S74P probably benign Het
Pard3b A G 1: 62,383,093 (GRCm39) D729G probably benign Het
Phactr1 T C 13: 43,210,664 (GRCm39) L169P possibly damaging Het
Rad54b T A 4: 11,612,655 (GRCm39) S762R probably damaging Het
Senp5 C T 16: 31,808,991 (GRCm39) V88I probably benign Het
Specc1l T C 10: 75,145,670 (GRCm39) V1105A probably damaging Het
Trak2 A C 1: 58,974,977 (GRCm39) S72A possibly damaging Het
Ttyh2 T C 11: 114,566,500 (GRCm39) probably null Het
Ush2a G A 1: 188,163,005 (GRCm39) C1029Y probably damaging Het
Vmn2r17 A G 5: 109,568,063 (GRCm39) Y62C probably damaging Het
Vmn2r41 A G 7: 8,164,547 (GRCm39) F2L probably benign Het
Xirp1 G T 9: 119,848,819 (GRCm39) D21E possibly damaging Het
Zfp114 C A 7: 23,880,460 (GRCm39) Q270K possibly damaging Het
Zfp341 T C 2: 154,476,114 (GRCm39) S441P probably damaging Het
Zfp780b A C 7: 27,663,843 (GRCm39) H237Q probably benign Het
Other mutations in Alg9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Alg9 APN 9 50,686,677 (GRCm39) splice site probably null
IGL02792:Alg9 APN 9 50,754,048 (GRCm39) missense possibly damaging 0.90
gum_drop UTSW 9 50,716,654 (GRCm39) missense possibly damaging 0.90
FR4976:Alg9 UTSW 9 50,686,731 (GRCm39) unclassified probably benign
R1183:Alg9 UTSW 9 50,700,833 (GRCm39) missense possibly damaging 0.82
R1270:Alg9 UTSW 9 50,698,872 (GRCm39) intron probably benign
R1575:Alg9 UTSW 9 50,686,802 (GRCm39) missense possibly damaging 0.65
R1773:Alg9 UTSW 9 50,690,396 (GRCm39) missense probably benign 0.30
R1837:Alg9 UTSW 9 50,717,615 (GRCm39) missense probably damaging 1.00
R2011:Alg9 UTSW 9 50,699,500 (GRCm39) missense probably damaging 1.00
R4324:Alg9 UTSW 9 50,716,643 (GRCm39) missense probably damaging 1.00
R4514:Alg9 UTSW 9 50,716,654 (GRCm39) missense possibly damaging 0.90
R4544:Alg9 UTSW 9 50,716,654 (GRCm39) missense possibly damaging 0.90
R4546:Alg9 UTSW 9 50,716,654 (GRCm39) missense possibly damaging 0.90
R4996:Alg9 UTSW 9 50,720,005 (GRCm39) missense probably damaging 1.00
R5007:Alg9 UTSW 9 50,699,524 (GRCm39) missense probably damaging 1.00
R5053:Alg9 UTSW 9 50,699,472 (GRCm39) missense probably damaging 1.00
R5308:Alg9 UTSW 9 50,734,011 (GRCm39) missense possibly damaging 0.95
R6803:Alg9 UTSW 9 50,700,860 (GRCm39) missense probably benign 0.37
R6994:Alg9 UTSW 9 50,703,422 (GRCm39) nonsense probably null
R6998:Alg9 UTSW 9 50,700,921 (GRCm39) missense possibly damaging 0.95
R7298:Alg9 UTSW 9 50,690,361 (GRCm39) missense probably damaging 0.97
R7480:Alg9 UTSW 9 50,733,928 (GRCm39) missense probably benign 0.06
R7561:Alg9 UTSW 9 50,754,074 (GRCm39) missense possibly damaging 0.95
R7578:Alg9 UTSW 9 50,700,835 (GRCm39) missense probably benign
R7721:Alg9 UTSW 9 50,687,942 (GRCm39) missense probably damaging 0.99
R7829:Alg9 UTSW 9 50,699,471 (GRCm39) missense probably damaging 1.00
R7878:Alg9 UTSW 9 50,754,083 (GRCm39) missense probably benign 0.00
R8113:Alg9 UTSW 9 50,720,080 (GRCm39) nonsense probably null
R8257:Alg9 UTSW 9 50,690,387 (GRCm39) missense possibly damaging 0.62
R9214:Alg9 UTSW 9 50,717,545 (GRCm39) missense probably damaging 1.00
R9497:Alg9 UTSW 9 50,711,436 (GRCm39) missense probably damaging 0.97
R9511:Alg9 UTSW 9 50,717,525 (GRCm39) missense probably damaging 1.00
RF003:Alg9 UTSW 9 50,686,727 (GRCm39) unclassified probably benign
RF006:Alg9 UTSW 9 50,686,717 (GRCm39) unclassified probably benign
RF058:Alg9 UTSW 9 50,686,727 (GRCm39) unclassified probably benign
Z1177:Alg9 UTSW 9 50,699,473 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATGTTTACAGTGATTGGCG -3'
(R):5'- CAGGAAGTAGGTAGTCGCTG -3'

Sequencing Primer
(F):5'- TGCAGGTGAAGCTTTAAAAATCAGC -3'
(R):5'- GTCGCTGTTCTCATTAGGATAAATC -3'
Posted On 2019-12-20