Incidental Mutation 'R5007:Alg9'
ID 390221
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 042598-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5007 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 50775019-50843542 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50788224 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 183 (M183K)
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: M183K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: M183K

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: M217K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123711
Gene: ENSMUSG00000032059
AA Change: M217K

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 60 228 1e-43 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162073
AA Change: H159Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125425
Gene: ENSMUSG00000032059
AA Change: H159Q

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 60 167 7.5e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162363
Meta Mutation Damage Score 0.9252 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.6%
Validation Efficiency 99% (89/90)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C G 7: 27,578,767 (GRCm38) T242R probably damaging Het
Abca8b T C 11: 109,936,764 (GRCm38) T1473A probably damaging Het
Adam22 T C 5: 8,167,393 (GRCm38) Y134C probably damaging Het
Ambra1 T C 2: 91,772,310 (GRCm38) I213T possibly damaging Het
Ankrd55 T A 13: 112,367,932 (GRCm38) V376D probably benign Het
Ano4 A C 10: 89,112,945 (GRCm38) V166G probably benign Het
Aox3 T A 1: 58,163,424 (GRCm38) C730S probably benign Het
Apc T A 18: 34,312,963 (GRCm38) Y953N probably damaging Het
Ass1 T C 2: 31,501,532 (GRCm38) F273S possibly damaging Het
Atg2b T C 12: 105,643,876 (GRCm38) probably null Het
B3gnt9 A G 8: 105,254,490 (GRCm38) Y89H probably damaging Het
Cd38 T G 5: 43,906,164 (GRCm38) F200V probably damaging Het
Cep170 G T 1: 176,769,814 (GRCm38) R388S probably benign Het
Col22a1 A T 15: 71,944,422 (GRCm38) D614E probably damaging Het
Crybg3 C A 16: 59,558,100 (GRCm38) probably benign Het
Ctdp1 A T 18: 80,420,480 (GRCm38) S114T probably damaging Het
Dctd C T 8: 48,137,414 (GRCm38) probably benign Het
Dmtf1 T C 5: 9,122,439 (GRCm38) probably benign Het
Dnhd1 G A 7: 105,713,076 (GRCm38) V3715M probably damaging Het
Dok1 A T 6: 83,032,316 (GRCm38) L185H probably damaging Het
Dpep1 T C 8: 123,199,378 (GRCm38) V152A probably damaging Het
Eif2ak1 G T 5: 143,873,880 (GRCm38) R136L probably benign Het
Eml5 A T 12: 98,830,965 (GRCm38) S1063T probably damaging Het
Fam171b T A 2: 83,855,509 (GRCm38) L179* probably null Het
Fam213b A G 4: 154,897,074 (GRCm38) probably null Het
Flot1 G T 17: 35,824,375 (GRCm38) probably benign Het
Fmn2 A T 1: 174,744,300 (GRCm38) H1491L probably damaging Het
Frem1 C T 4: 82,940,812 (GRCm38) probably benign Het
Gdf2 A G 14: 33,944,906 (GRCm38) D195G probably benign Het
Golga4 T G 9: 118,558,300 (GRCm38) C1497G probably benign Het
Gpaa1 T A 15: 76,331,668 (GRCm38) C33* probably null Het
Hectd1 A T 12: 51,802,660 (GRCm38) C254S possibly damaging Het
Hspa1b C T 17: 34,958,110 (GRCm38) A300T probably benign Het
Igf2bp2 A G 16: 22,079,496 (GRCm38) I233T probably damaging Het
Iqce C A 5: 140,675,248 (GRCm38) A491S possibly damaging Het
Irak3 A G 10: 120,146,429 (GRCm38) probably null Het
Kcnip1 T A 11: 33,642,495 (GRCm38) H124L probably benign Het
Klhdc10 G A 6: 30,450,641 (GRCm38) R393Q probably benign Het
Klhl28 C T 12: 64,957,227 (GRCm38) E171K probably damaging Het
Map2 T C 1: 66,413,289 (GRCm38) V288A possibly damaging Het
Mdp1 C T 14: 55,659,226 (GRCm38) R126Q probably damaging Het
Meltf A G 16: 31,887,562 (GRCm38) D288G possibly damaging Het
Mgat4e T A 1: 134,541,152 (GRCm38) I385F probably benign Het
Mical3 A C 6: 121,038,069 (GRCm38) V211G probably damaging Het
Mlh1 A G 9: 111,271,410 (GRCm38) *39R probably null Het
Mre11a A G 9: 14,809,820 (GRCm38) D345G probably benign Het
Mroh2a GCCC GC 1: 88,232,257 (GRCm38) probably null Het
Msh2 C A 17: 87,723,413 (GRCm38) A906E probably benign Het
Nat1 T G 8: 67,491,425 (GRCm38) L154R probably benign Het
Nlrp4a A G 7: 26,462,480 (GRCm38) D851G probably damaging Het
Npas4 A C 19: 4,989,656 (GRCm38) V54G possibly damaging Het
Olfr702 T C 7: 106,824,157 (GRCm38) Y123C probably damaging Het
Pcbp4 G A 9: 106,462,093 (GRCm38) G100R probably damaging Het
Pcdh17 A G 14: 84,533,297 (GRCm38) T1072A probably benign Het
Pcdh18 T C 3: 49,754,457 (GRCm38) N803S probably benign Het
Ppat C T 5: 76,928,678 (GRCm38) probably benign Het
Ppm1l T A 3: 69,317,598 (GRCm38) L11Q probably damaging Het
Pram1 T A 17: 33,645,437 (GRCm38) V658E probably damaging Het
Prr12 C T 7: 45,049,801 (GRCm38) probably benign Het
Ptprq A G 10: 107,608,276 (GRCm38) V1489A probably benign Het
Ryr1 T A 7: 29,069,115 (GRCm38) I2817F probably damaging Het
Sall2 A G 14: 52,314,493 (GRCm38) L413P probably damaging Het
Slc7a9 T A 7: 35,454,129 (GRCm38) M185K probably benign Het
Stag2 C T X: 42,266,253 (GRCm38) H1149Y possibly damaging Het
Timm10b T A 7: 105,641,091 (GRCm38) Y64N probably damaging Het
Tmem30c T C 16: 57,266,505 (GRCm38) T312A probably benign Het
Tmem9b G T 7: 109,745,343 (GRCm38) C17* probably null Het
Vmn2r68 C A 7: 85,232,414 (GRCm38) R486L probably benign Het
Xkr9 T A 1: 13,701,163 (GRCm38) I301N probably damaging Het
Xpo7 T C 14: 70,688,264 (GRCm38) Q446R probably damaging Het
Ythdf3 T C 3: 16,205,198 (GRCm38) V503A possibly damaging Het
Zfp280b T A 10: 76,039,214 (GRCm38) V309D probably damaging Het
Zfp53 T A 17: 21,509,510 (GRCm38) C602S probably benign Het
Zfp616 A T 11: 74,083,817 (GRCm38) N395I possibly damaging Het
Zfp644 T C 5: 106,636,001 (GRCm38) I862M probably benign Het
Zfp715 T C 7: 43,299,595 (GRCm38) T314A 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
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
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'- AGTGTTATTTTGCACACGGC -3'
(R):5'- ATGTGAGATGCGACTTTCACAG -3'

Sequencing Primer
(F):5'- GCACACGGCTTCCATTTC -3'
(R):5'- GATGTCAATTCTAGCTGCTAATGC -3'
Posted On 2016-06-06