Incidental Mutation 'R7298:Alg9'
ID 566807
Institutional Source Beutler Lab
Gene Symbol Alg9
Ensembl Gene ENSMUSG00000032059
Gene Name asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase)
Synonyms B430313H07Rik, 8230402H15Rik, Dibd1
MMRRC Submission 045402-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7298 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 50775019-50843542 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50779061 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 121 (A121V)
Ref Sequence ENSEMBL: ENSMUSP00000034561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000159576] [ENSMUST00000162073]
AlphaFold Q8VDI9
Predicted Effect probably damaging
Transcript: ENSMUST00000034561
AA Change: A121V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: A121V

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 60 482 3.5e-127 PFAM
low complexity region 598 611 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159576
AA Change: A121V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059
AA Change: A121V

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 60 228 1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162073
AA Change: A121V

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059
AA Change: A121V

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 60 167 7.5e-31 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (52/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 120,207,883 (GRCm38) T51S probably benign Het
Abcc1 A G 16: 14,396,472 (GRCm38) D204G possibly damaging Het
Acaa1b C T 9: 119,151,847 (GRCm38) E172K probably benign Het
Adamts5 G A 16: 85,899,918 (GRCm38) T117I probably benign Het
Agmat A G 4: 141,746,964 (GRCm38) E52G possibly damaging Het
Atf7ip2 T C 16: 10,209,168 (GRCm38) I100T possibly damaging Het
Calm2 T C 17: 87,442,737 (GRCm38) probably null Het
Cfap44 A T 16: 44,481,412 (GRCm38) M1838L probably benign Het
Cym A G 3: 107,219,693 (GRCm38) Y49H probably benign Het
Dchs1 G A 7: 105,755,131 (GRCm38) R2735* probably null Het
Dnajc6 T C 4: 101,606,611 (GRCm38) I187T probably benign Het
Fam151a G T 4: 106,735,528 (GRCm38) R69L possibly damaging Het
Gm13089 C A 4: 143,698,505 (GRCm38) D123Y probably benign Het
Gm14548 T A 7: 3,895,265 (GRCm38) I353F possibly damaging Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 101,794,171 (GRCm38) probably benign Het
Gm9922 C A 14: 101,729,525 (GRCm38) G97V unknown Het
Hacl1 A T 14: 31,616,486 (GRCm38) M378K probably damaging Het
Idh2 TCCCAGG T 7: 80,098,331 (GRCm38) probably benign Het
Ighv1-82 A T 12: 115,952,954 (GRCm38) I6N possibly damaging Het
Kctd19 A C 8: 105,382,984 (GRCm38) V942G probably benign Het
Lce1l C T 3: 92,850,176 (GRCm38) C125Y unknown Het
Mmp8 T C 9: 7,560,448 (GRCm38) F42S probably damaging Het
Myom2 T C 8: 15,098,411 (GRCm38) L529P probably damaging Het
Nectin3 A T 16: 46,448,396 (GRCm38) Y548N probably damaging Het
Olfml3 T C 3: 103,735,860 (GRCm38) K402E probably damaging Het
Olfr1255 T C 2: 89,816,521 (GRCm38) F59S probably damaging Het
Olfr303 T A 7: 86,394,923 (GRCm38) T192S probably damaging Het
Otof T A 5: 30,388,270 (GRCm38) I514F probably damaging Het
Plch1 G T 3: 63,716,037 (GRCm38) S603* probably null Het
Ppa1 T A 10: 61,666,912 (GRCm38) D171E probably benign Het
Prss34 T C 17: 25,299,763 (GRCm38) C240R probably damaging Het
Ptpre A G 7: 135,683,287 (GRCm38) D714G probably damaging Het
Ranbp9 A G 13: 43,480,460 (GRCm38) F157L probably benign Het
Rbbp6 A G 7: 123,001,194 (GRCm38) K1475E unknown Het
Retnlg A G 16: 48,872,874 (GRCm38) N5D probably benign Het
Rev1 T C 1: 38,053,104 (GRCm38) T1245A probably damaging Het
Rngtt G T 4: 33,362,927 (GRCm38) L360F probably damaging Het
Scrib A C 15: 76,064,761 (GRCm38) V447G probably damaging Het
Slc22a6 C A 19: 8,621,320 (GRCm38) A247E possibly damaging Het
Slc25a20 G A 9: 108,662,144 (GRCm38) probably benign Het
Spag16 T A 1: 69,919,426 (GRCm38) probably null Het
Stx3 C T 19: 11,790,048 (GRCm38) W87* probably null Het
Syngap1 T A 17: 26,962,987 (GRCm38) M1158K possibly damaging Het
Tmed9 C A 13: 55,593,294 (GRCm38) H41N possibly damaging Het
Trav15-2-dv6-2 G A 14: 53,649,785 (GRCm38) S54N probably benign Het
Tyk2 C T 9: 21,108,860 (GRCm38) V1001I probably benign Het
Ugt8a A G 3: 125,915,416 (GRCm38) V15A probably benign Het
Uhrf2 A G 19: 30,088,549 (GRCm38) E661G probably benign Het
Vmn2r77 T A 7: 86,800,771 (GRCm38) I75N probably benign Het
Zfp346 T G 13: 55,130,603 (GRCm38) V258G probably damaging Het
Zfp72 T A 13: 74,372,394 (GRCm38) K188N possibly damaging Het
Zgrf1 C A 3: 127,583,650 (GRCm38) S848* probably null Het
Other mutations in Alg9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Alg9 APN 9 50,775,377 (GRCm38) splice site probably null
IGL02792:Alg9 APN 9 50,842,748 (GRCm38) missense possibly damaging 0.90
gum_drop UTSW 9 50,805,354 (GRCm38) missense possibly damaging 0.90
FR4976:Alg9 UTSW 9 50,775,431 (GRCm38) unclassified probably benign
R1183:Alg9 UTSW 9 50,789,533 (GRCm38) missense possibly damaging 0.82
R1270:Alg9 UTSW 9 50,787,572 (GRCm38) intron probably benign
R1575:Alg9 UTSW 9 50,775,502 (GRCm38) missense possibly damaging 0.65
R1773:Alg9 UTSW 9 50,779,096 (GRCm38) missense probably benign 0.30
R1837:Alg9 UTSW 9 50,806,315 (GRCm38) missense probably damaging 1.00
R2011:Alg9 UTSW 9 50,788,200 (GRCm38) missense probably damaging 1.00
R4324:Alg9 UTSW 9 50,805,343 (GRCm38) missense probably damaging 1.00
R4514:Alg9 UTSW 9 50,805,354 (GRCm38) missense possibly damaging 0.90
R4544:Alg9 UTSW 9 50,805,354 (GRCm38) missense possibly damaging 0.90
R4546:Alg9 UTSW 9 50,805,354 (GRCm38) missense possibly damaging 0.90
R4996:Alg9 UTSW 9 50,808,705 (GRCm38) missense probably damaging 1.00
R5007:Alg9 UTSW 9 50,788,224 (GRCm38) missense probably damaging 1.00
R5053:Alg9 UTSW 9 50,788,172 (GRCm38) missense probably damaging 1.00
R5308:Alg9 UTSW 9 50,822,711 (GRCm38) missense possibly damaging 0.95
R6803:Alg9 UTSW 9 50,789,560 (GRCm38) missense probably benign 0.37
R6994:Alg9 UTSW 9 50,792,122 (GRCm38) nonsense probably null
R6998:Alg9 UTSW 9 50,789,621 (GRCm38) missense possibly damaging 0.95
R7480:Alg9 UTSW 9 50,822,628 (GRCm38) missense probably benign 0.06
R7561:Alg9 UTSW 9 50,842,774 (GRCm38) missense possibly damaging 0.95
R7578:Alg9 UTSW 9 50,789,535 (GRCm38) missense probably benign
R7721:Alg9 UTSW 9 50,776,642 (GRCm38) missense probably damaging 0.99
R7829:Alg9 UTSW 9 50,788,171 (GRCm38) missense probably damaging 1.00
R7847:Alg9 UTSW 9 50,789,605 (GRCm38) missense possibly damaging 0.62
R7878:Alg9 UTSW 9 50,842,783 (GRCm38) missense probably benign 0.00
R8113:Alg9 UTSW 9 50,808,780 (GRCm38) nonsense probably null
R8257:Alg9 UTSW 9 50,779,087 (GRCm38) missense possibly damaging 0.62
R9214:Alg9 UTSW 9 50,806,245 (GRCm38) missense probably damaging 1.00
R9497:Alg9 UTSW 9 50,800,136 (GRCm38) missense probably damaging 0.97
R9511:Alg9 UTSW 9 50,806,225 (GRCm38) missense probably damaging 1.00
RF003:Alg9 UTSW 9 50,775,427 (GRCm38) unclassified probably benign
RF006:Alg9 UTSW 9 50,775,417 (GRCm38) unclassified probably benign
RF058:Alg9 UTSW 9 50,775,427 (GRCm38) unclassified probably benign
Z1177:Alg9 UTSW 9 50,788,173 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCTCTAATTTCAACACAGGCTG -3'
(R):5'- TTTCAAAGAGGAGGCCAGACAC -3'

Sequencing Primer
(F):5'- ATTTCAACACAGGCTGTTCAC -3'
(R):5'- GTCTGCAGAACATGGCAAGACTC -3'
Posted On 2019-06-26