Incidental Mutation 'RF003:Alg9'
ID 602636
Institutional Source Beutler Lab
Gene Symbol Alg9
Ensembl Gene ENSMUSG00000032059
Gene Name asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase)
Synonyms B430313H07Rik, 8230402H15Rik, Dibd1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF003 (G1)
Quality Score 180.982
Status Not validated
Chromosome 9
Chromosomal Location 50775019-50843542 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) GGC to GGCCGC at 50775427 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000042391] [ENSMUST00000159576] [ENSMUST00000162073] [ENSMUST00000176145] [ENSMUST00000176335] [ENSMUST00000177384]
AlphaFold Q8VDI9
Predicted Effect probably benign
Transcript: ENSMUST00000034561
SMART Domains Protein: ENSMUSP00000034561
Gene: ENSMUSG00000032059

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: ENSMUST00000042391
SMART Domains Protein: ENSMUSP00000037082
Gene: ENSMUSG00000037845

DomainStartEndE-ValueType
Pfam:DUF2431 7 176 1.4e-44 PFAM
low complexity region 258 269 N/A INTRINSIC
SCOP:d1jjca_ 487 516 6e-4 SMART
FDX-ACB 528 622 5.88e-17 SMART
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 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: ENSMUST00000176145
SMART Domains Protein: ENSMUSP00000135796
Gene: ENSMUSG00000037845

DomainStartEndE-ValueType
Pfam:DUF2431 7 115 4.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176335
SMART Domains Protein: ENSMUSP00000135658
Gene: ENSMUSG00000037845

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
SCOP:d1jjca_ 285 314 3e-4 SMART
FDX-ACB 326 420 5.88e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177384
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik AACC A 7: 40,993,055 (GRCm38) probably benign Het
A630073D07Rik A C 6: 132,627,443 (GRCm38) L13R unknown Het
Arc G C 15: 74,672,131 (GRCm38) T81S probably benign Het
Atad5 A T 11: 80,111,560 (GRCm38) K1059N probably damaging Het
Bdp1 C A 13: 100,060,449 (GRCm38) V1143F probably benign Het
Bdp1 C A 13: 100,060,450 (GRCm38) Q1142H probably benign Het
Ccdc33 T C 9: 58,058,291 (GRCm38) S583G probably benign Het
Cd109 TTAT TTATTTATTTATATAT 9: 78,712,531 (GRCm38) probably benign Het
Cep192 A T 18: 67,837,956 (GRCm38) R1009S probably benign Het
Clvs2 T A 10: 33,622,925 (GRCm38) H3L probably damaging Het
Cnot6 T C 11: 49,702,613 (GRCm38) M14V probably benign Het
Colec10 A G 15: 54,462,391 (GRCm38) R206G possibly damaging Het
Dennd6a T C 14: 26,629,534 (GRCm38) I598T probably damaging Het
Dmrt2 T C 19: 25,678,134 (GRCm38) S366P probably damaging Het
Dnmt1 AGTTCCTACCTCGTT AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT 9: 20,910,131 (GRCm38) probably null Het
Efhb T C 17: 53,400,891 (GRCm38) D748G probably damaging Het
Etl4 C T 2: 20,519,918 (GRCm38) Q21* probably null Het
Fam172a A T 13: 77,834,675 (GRCm38) I135L possibly damaging Het
Fam71e1 C CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA 7: 44,500,527 (GRCm38) probably null Het
Flywch1 CCACTCCTGGTGT CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT 17: 23,762,166 (GRCm38) probably null Het
Fmn1 ACCTCC ACCTCCCCCTCC 2: 113,525,786 (GRCm38) probably benign Het
Fsip2 T A 2: 82,991,521 (GRCm38) M5866K probably benign Het
Gab3 CTT CTTATT X: 75,000,006 (GRCm38) probably null Het
Gnl2 T A 4: 125,043,725 (GRCm38) probably null Het
Grip2 C T 6: 91,783,593 (GRCm38) R341Q probably benign Het
Hmcn1 T A 1: 150,624,561 (GRCm38) H3960L probably damaging Het
Igkv6-25 T A 6: 70,215,778 (GRCm38) Y56* probably null Het
Il12a A T 3: 68,695,229 (GRCm38) T102S probably benign Het
Il1a T A 2: 129,302,932 (GRCm38) I189F possibly damaging Het
Inpp4b T A 8: 81,969,521 (GRCm38) Y361* probably null Het
Iqcf4 CTTTTCCTTTTCCTTTT CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT 9: 106,570,607 (GRCm38) probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,850,378 (GRCm38) probably benign Het
Las1l AGTGG AGTGGTGG X: 95,940,816 (GRCm38) probably benign Het
Lrmp AGCACATTG AGCACATTGTGCACATTG 6: 145,173,783 (GRCm38) probably benign Het
Lrrc8d T C 5: 105,812,641 (GRCm38) Y306H probably damaging Het
Mamld1 AGC AGCCGC X: 71,118,820 (GRCm38) probably benign Het
Map1a CTCCAGCTCCAGCTCCAGCTCCA CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA 2: 121,306,296 (GRCm38) probably benign Het
Map1b G T 13: 99,430,750 (GRCm38) A1821E unknown Het
Maz A G 7: 127,025,497 (GRCm38) C284R probably damaging Het
Med23 A G 10: 24,903,785 (GRCm38) H920R probably damaging Het
Megf10 CCAGCAGCAGCAGCAGCAGCAG CCAGCAGCAGCAGCAGCAG 18: 57,294,027 (GRCm38) probably benign Het
Mmp14 C T 14: 54,439,014 (GRCm38) R339* probably null Het
Mroh9 T G 1: 163,058,061 (GRCm38) K334T probably damaging Het
Nab1 A T 1: 52,479,282 (GRCm38) C320S probably damaging Het
Noto T C 6: 85,424,210 (GRCm38) S74P probably benign Het
Nudt4 T C 10: 95,549,374 (GRCm38) N152D possibly damaging Het
Nup155 T TTTTG 15: 8,119,176 (GRCm38) probably benign Het
Nusap1 AGCTGAGA AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA 2: 119,627,603 (GRCm38) probably benign Het
Olfr118 A C 17: 37,672,858 (GRCm38) K278N probably damaging Het
Olfr330 CA C 11: 58,529,157 (GRCm38) probably null Het
Olfr461 T C 6: 40,544,362 (GRCm38) I206V probably benign Het
Olfr585 GTTAT GTTATTAT 7: 103,098,305 (GRCm38) Het
Olfr585 TTA TTAGTA 7: 103,098,306 (GRCm38) probably null Het
Olfr710 T A 7: 106,944,648 (GRCm38) M118L probably damaging Het
Olfr828 T C 9: 18,815,482 (GRCm38) T271A probably benign Het
Plxnc1 T C 10: 94,794,444 (GRCm38) Y1531C probably damaging Het
Pnmal2 TGA TGAAGA 7: 16,946,016 (GRCm38) probably benign Het
Rp1 A G 1: 4,344,694 (GRCm38) V2065A probably damaging Het
Sbp AAGATGCTGACAACA AAGATGCTGACAACAGAGATGCTGACAACA 17: 23,945,369 (GRCm38) probably benign Het
Sepsecs G A 5: 52,647,191 (GRCm38) T379M probably benign Het
Sfswap GGCC GGCCCACTCTGCC 5: 129,569,764 (GRCm38) probably benign Het
Six3 GCG GCGTCG 17: 85,621,370 (GRCm38) probably benign Het
Tfeb C T 17: 47,788,078 (GRCm38) T259I possibly damaging Het
Tgoln1 A AAACTCAG 6: 72,616,352 (GRCm38) probably null Het
Tmem94 G A 11: 115,796,132 (GRCm38) V1108M probably damaging Het
Usp35 T C 7: 97,322,096 (GRCm38) K297E possibly damaging Het
Vcpkmt T A 12: 69,582,824 (GRCm38) T55S possibly damaging Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG 6: 125,036,471 (GRCm38) probably benign Het
Zfp384 GCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAG 6: 125,036,483 (GRCm38) probably benign Het
Zfp384 GGCCC GGCCCTGGCCCAAGCCC 6: 125,036,476 (GRCm38) probably benign Het
Zfp407 A T 18: 84,209,563 (GRCm38) S1974T probably benign Het
Zfp677 T C 17: 21,397,442 (GRCm38) S254P probably 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
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
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'- TCGCCTCAATTGGTCCATTG -3'
(R):5'- AGACCCTGGCTGCAAAGATG -3'

Sequencing Primer
(F):5'- CAATTGGTCCATTGGCACAG -3'
(R):5'- CGATGATCGACGCCAAGTG -3'
Posted On 2019-12-04