Incidental Mutation 'R4996:Alg9'
ID 385261
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 042590-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4996 (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 C at 50808705 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 494 (F494L)
Ref Sequence ENSEMBL: ENSMUSP00000034561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000162073] [ENSMUST00000177320]
AlphaFold Q8VDI9
Predicted Effect probably damaging
Transcript: ENSMUST00000034561
AA Change: F494L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059
AA Change: F494L

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 unknown
Transcript: ENSMUST00000175728
AA Change: F9L
Predicted Effect probably benign
Transcript: ENSMUST00000177320
SMART Domains Protein: ENSMUSP00000134818
Gene: ENSMUSG00000032059

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 2 99 4.3e-15 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.5%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,426,349 (GRCm38) V173M probably damaging Het
Actl11 A G 9: 107,931,735 (GRCm38) I1086V possibly damaging Het
Adgrv1 T C 13: 81,578,734 (GRCm38) S500G probably benign Het
Ahcyl1 A T 3: 107,668,287 (GRCm38) V394E probably damaging Het
Ankrd55 C A 13: 112,356,088 (GRCm38) D264E possibly damaging Het
Asb14 A G 14: 26,912,116 (GRCm38) N426S possibly damaging Het
Atm A T 9: 53,524,507 (GRCm38) F168I probably benign Het
Atp13a4 A T 16: 29,472,004 (GRCm38) I209N probably damaging Het
BB014433 A T 8: 15,042,166 (GRCm38) L229Q probably benign Het
Calml3 T C 13: 3,804,142 (GRCm38) D21G probably damaging Het
Capn10 A G 1: 92,945,136 (GRCm38) N528S probably damaging Het
Ccnl2 T A 4: 155,813,524 (GRCm38) D141E possibly damaging Het
Cd163 A G 6: 124,319,147 (GRCm38) I817V probably benign Het
Cgnl1 CTTGCCCAGGTT CTT 9: 71,724,826 (GRCm38) probably benign Het
Cln6 T A 9: 62,850,655 (GRCm38) I232N probably damaging Het
Col22a1 A C 15: 72,007,161 (GRCm38) V49G probably damaging Het
Csmd1 A T 8: 15,910,452 (GRCm38) M3321K probably damaging Het
Cyp2u1 T A 3: 131,298,284 (GRCm38) M196L probably benign Het
Dlec1 T G 9: 119,146,050 (GRCm38) L1566R probably damaging Het
Dnajc3 A G 14: 118,972,427 (GRCm38) T305A probably benign Het
Drp2 G A X: 134,441,316 (GRCm38) R567H probably damaging Homo
Efhd1 G T 1: 87,264,558 (GRCm38) G37W possibly damaging Het
Exph5 G C 9: 53,375,610 (GRCm38) E1330D possibly damaging Het
Fbln2 A T 6: 91,266,010 (GRCm38) Y913F probably benign Het
Fmnl1 G A 11: 103,182,656 (GRCm38) S167N possibly damaging Het
Frs3 A G 17: 47,701,710 (GRCm38) E114G probably damaging Het
Gmpr2 T C 14: 55,676,795 (GRCm38) I169T probably damaging Het
Gria2 A G 3: 80,707,141 (GRCm38) S531P probably damaging Het
Hace1 G A 10: 45,649,950 (GRCm38) A296T probably benign Het
Ift70a1 C T 2: 75,979,922 (GRCm38) G606S probably benign Het
Inhbb A C 1: 119,420,818 (GRCm38) L90R probably damaging Het
Insr C T 8: 3,192,665 (GRCm38) R18Q probably null Het
Kdm6b G T 11: 69,405,731 (GRCm38) P570Q probably damaging Het
Lama3 T C 18: 12,518,743 (GRCm38) V1803A probably benign Het
Lpin3 T A 2: 160,905,287 (GRCm38) L811Q probably damaging Het
Lrrc8e C T 8: 4,235,166 (GRCm38) L464F probably damaging Het
Micall2 A G 5: 139,710,589 (GRCm38) S729P probably benign Het
Naca C T 10: 128,042,429 (GRCm38) probably benign Het
Nav1 A T 1: 135,465,971 (GRCm38) S1010T probably damaging Het
Nefm T C 14: 68,121,121 (GRCm38) probably benign Het
Nlrp9c A T 7: 26,385,747 (GRCm38) F136I possibly damaging Het
Nup210 A T 6: 91,053,436 (GRCm38) F137Y probably benign Het
Or1o3 A G 17: 37,262,867 (GRCm38) S266P probably benign Het
Or3a1c A G 11: 74,155,331 (GRCm38) H59R probably damaging Het
Or8k32 T C 2: 86,538,271 (GRCm38) I215V probably benign Het
Otog C A 7: 46,298,606 (GRCm38) H2344N possibly damaging Het
Otog C A 7: 46,305,510 (GRCm38) C517* probably null Het
Pcdhac1 C T 18: 37,092,527 (GRCm38) Q798* probably null Het
Pdhx T C 2: 103,030,312 (GRCm38) D330G probably damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm38) probably benign Het
Pgr C A 9: 8,900,913 (GRCm38) P149Q probably damaging Het
Plaat1 G A 16: 29,217,704 (GRCm38) W31* probably null Het
Ppm1h A T 10: 122,941,340 (GRCm38) I504F probably damaging Het
Ppp6r3 A G 19: 3,473,833 (GRCm38) S556P probably damaging Het
Ranbp9 G A 13: 43,425,094 (GRCm38) Q168* probably null Het
Relb A T 7: 19,615,603 (GRCm38) L259Q probably benign Het
Rfx5 G A 3: 94,955,815 (GRCm38) V73I probably benign Het
Rgcc T C 14: 79,290,276 (GRCm38) D125G possibly damaging Het
Rmnd5b A G 11: 51,627,908 (GRCm38) V86A probably damaging Het
Slc15a5 G A 6: 138,043,585 (GRCm38) T250M probably damaging Het
Slc7a2 A T 8: 40,912,562 (GRCm38) K477* probably null Het
Slx9 A T 10: 77,515,533 (GRCm38) W14R probably null Het
Smc2 T A 4: 52,461,042 (GRCm38) probably null Het
Sox5 A T 6: 144,028,344 (GRCm38) L226* probably null Het
Sp140l2 G T 1: 85,247,094 (GRCm38) A240E probably benign Het
Syne2 A G 12: 75,943,950 (GRCm38) E1903G possibly damaging Het
Tenm3 A T 8: 48,235,826 (GRCm38) I2226N probably damaging Het
Tmtc3 A T 10: 100,447,224 (GRCm38) I823N probably damaging Het
Top6bl T A 19: 4,626,084 (GRCm38) K673N probably benign Het
Tor3a T C 1: 156,655,772 (GRCm38) Y360C probably damaging Het
Trpc3 T C 3: 36,662,818 (GRCm38) E357G probably benign Het
Tubgcp6 A T 15: 89,103,490 (GRCm38) N1093K possibly damaging Het
Vmn1r64 T A 7: 5,884,053 (GRCm38) T164S probably benign Het
Vmn2r40 T A 7: 8,908,167 (GRCm38) Q709L probably damaging Het
Vmn2r81 A T 10: 79,293,413 (GRCm38) I713L probably benign Het
Washc5 T C 15: 59,333,635 (GRCm38) T686A probably benign Het
Wipf1 GCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCC 2: 73,440,074 (GRCm38) probably benign 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
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'- CTTGCTTCAGACTGACTTGTGAC -3'
(R):5'- GAGACACTCGTTTGGTTAATGC -3'

Sequencing Primer
(F):5'- AGACTGACTTGTGACCTCTGC -3'
(R):5'- TGGTTAATGCTCCAACGGAAC -3'
Posted On 2016-05-10