Incidental Mutation 'R4324:Alg9'
ID 323967
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 041095-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4324 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 50775019-50843542 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 50805343 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 22 (H22Q)
Ref Sequence ENSEMBL: ENSMUSP00000134818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000162073] [ENSMUST00000177320]
AlphaFold Q8VDI9
Predicted Effect probably damaging
Transcript: ENSMUST00000034561
AA Change: H405Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: H405Q

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: ENSMUST00000162073
SMART Domains Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 60 167 7.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175728
Predicted Effect probably damaging
Transcript: ENSMUST00000177320
AA Change: H22Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134818
Gene: ENSMUSG00000032059
AA Change: H22Q

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 2 99 4.3e-15 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afp A G 5: 90,507,905 (GRCm38) D583G probably benign Het
Aqp6 G A 15: 99,601,410 (GRCm38) M1I probably null Het
Arhgef10 T A 8: 14,940,335 (GRCm38) I270N possibly damaging Het
Asb13 G T 13: 3,645,012 (GRCm38) R160L possibly damaging Het
Atg10 T A 13: 91,040,966 (GRCm38) D75V probably damaging Het
Atxn7l2 A T 3: 108,205,832 (GRCm38) D218E probably damaging Het
Ccdc191 A G 16: 43,947,509 (GRCm38) E624G probably damaging Het
Cdan1 T C 2: 120,724,979 (GRCm38) I760M probably damaging Het
Cdk14 T A 5: 5,036,532 (GRCm38) K263* probably null Het
Cdk5rap2 A T 4: 70,353,614 (GRCm38) I287N probably damaging Het
Cdkn2aip A T 8: 47,712,173 (GRCm38) S168R probably benign Het
Dnah17 C T 11: 118,094,213 (GRCm38) V1555M probably benign Het
Dsel T C 1: 111,861,393 (GRCm38) T471A probably damaging Het
Dzank1 T C 2: 144,488,698 (GRCm38) E478G possibly damaging Het
Enc1 T C 13: 97,245,897 (GRCm38) F305S probably benign Het
Epn1 T A 7: 5,097,211 (GRCm38) M441K probably benign Het
Fbxw24 C T 9: 109,604,945 (GRCm38) probably null Het
Gad1 G A 2: 70,589,830 (GRCm38) D353N probably damaging Het
Ggcx A G 6: 72,428,820 (GRCm38) S545G probably benign Het
H2-K1 C T 17: 34,000,040 (GRCm38) V30M possibly damaging Het
Hipk3 C A 2: 104,446,571 (GRCm38) V388L probably damaging Het
Krt82 T A 15: 101,541,747 (GRCm38) M505L probably benign Het
Man2a1 A G 17: 64,666,793 (GRCm38) I355V probably benign Het
Olfr473 C T 7: 107,933,693 (GRCm38) P58S probably damaging Het
Pcbp3 G A 10: 76,763,343 (GRCm38) R109* probably null Het
Pcgf1 T C 6: 83,079,957 (GRCm38) probably null Het
Plekhm2 A T 4: 141,631,857 (GRCm38) V533E possibly damaging Het
Prss3 T G 6: 41,373,845 (GRCm38) D237A probably benign Het
Rnf125 G A 18: 20,977,760 (GRCm38) R25K probably benign Het
Rufy4 T C 1: 74,147,663 (GRCm38) C537R probably damaging Het
Shc4 T A 2: 125,678,750 (GRCm38) M260L probably benign Het
Spag6l T C 16: 16,787,235 (GRCm38) Y151C probably benign Het
Stac3 C T 10: 127,503,249 (GRCm38) P76S probably damaging Het
Trpc7 T C 13: 56,887,356 (GRCm38) I255V probably damaging Het
Ttn T C 2: 76,908,579 (GRCm38) E3872G probably benign Het
Uqcrfs1 A G 13: 30,541,158 (GRCm38) V133A probably benign Het
Vmn2r52 T A 7: 10,171,013 (GRCm38) T300S possibly damaging Het
Wipi1 A T 11: 109,603,836 (GRCm38) I57N possibly damaging 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
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
R7298:Alg9 UTSW 9 50,779,061 (GRCm38) missense probably damaging 0.97
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'- TGCTCAGACCCTTGTCACAC -3'
(R):5'- GTACAGAGGTCACATCCCACTC -3'

Sequencing Primer
(F):5'- AGACCCTTGTCACACCTGCTG -3'
(R):5'- GAGAGCAGTCTTTTCCCAGCATAAG -3'
Posted On 2015-06-24