Incidental Mutation 'IGL01634:Alg9'
ID93580
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alg9
Ensembl Gene ENSMUSG00000032059
Gene Nameasparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase)
SynonymsB430313H07Rik, 8230402H15Rik, Dibd1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01634
Quality Score
Status
Chromosome9
Chromosomal Location50775019-50843542 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 50775377 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034561] [ENSMUST00000042391] [ENSMUST00000159576] [ENSMUST00000162073] [ENSMUST00000176145] [ENSMUST00000176335] [ENSMUST00000177384]
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 null
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 noncoding transcript
Transcript: ENSMUST00000162363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162442
Predicted Effect probably benign
Transcript: ENSMUST00000176145
SMART Domains Protein: ENSMUSP00000135796
Gene: ENSMUSG00000037845

DomainStartEndE-ValueType
Pfam:DUF2431 7 115 4.2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176160
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 noncoding transcript
Transcript: ENSMUST00000176619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176894
Predicted Effect probably benign
Transcript: ENSMUST00000177384
Coding Region Coverage
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034H15Rik A T 1: 191,900,904 noncoding transcript Het
4933421I07Rik C T 7: 42,447,699 D63N probably benign Het
Anln T C 9: 22,360,475 T695A probably benign Het
Aox4 G T 1: 58,221,930 D141Y possibly damaging Het
Arhgap21 C A 2: 20,914,644 Q84H probably benign Het
Arnt G A 3: 95,470,398 probably benign Het
Atp8a2 T A 14: 59,998,062 Y677F probably benign Het
Car6 C T 4: 150,198,153 V12M probably benign Het
Cd209d A T 8: 3,877,974 probably null Het
Ctnna1 T A 18: 35,223,448 V390E probably damaging Het
Cypt4 T A 9: 24,625,656 N147K possibly damaging Het
Dnah10 C A 5: 124,821,341 A3729E probably damaging Het
Dusp8 A G 7: 142,084,423 V156A probably benign Het
Ecm1 G A 3: 95,734,899 P458L probably damaging Het
Fat3 T G 9: 15,998,358 Y2116S probably damaging Het
Fscn3 T A 6: 28,430,538 Y236N probably damaging Het
Gaa G A 11: 119,274,076 S265N possibly damaging Het
Gas7 T C 11: 67,674,231 probably benign Het
Gbp8 T C 5: 105,018,572 K297R probably damaging Het
Gm1818 G A 12: 48,556,209 noncoding transcript Het
Gm5114 G T 7: 39,408,647 T516K probably benign Het
Hectd1 A G 12: 51,803,779 S165P probably damaging Het
Hoxb4 G T 11: 96,318,900 R44L probably damaging Het
Ivd G A 2: 118,876,382 R285H probably damaging Het
Krtap20-2 T C 16: 89,206,089 F59S unknown Het
Megf8 G A 7: 25,358,781 probably benign Het
Mgat4d A T 8: 83,368,116 M261L possibly damaging Het
Mlc1 A T 15: 88,974,718 probably benign Het
Mmp20 T A 9: 7,635,148 Y43* probably null Het
Morc3 G A 16: 93,873,237 V767I probably benign Het
Myo15 A G 11: 60,495,472 T1808A probably damaging Het
Notch4 T C 17: 34,572,588 F574L probably damaging Het
Npas3 G A 12: 53,947,163 V164M probably damaging Het
Nptx1 A G 11: 119,544,672 Y273H probably damaging Het
Oaf T C 9: 43,224,004 N159S probably damaging Het
Olfr1216 T A 2: 89,013,444 I207F probably damaging Het
Olfr519 A T 7: 108,894,085 F107L probably benign Het
Olfr994 A T 2: 85,430,439 L130H probably damaging Het
Pgm1 T C 5: 64,100,974 F101L probably benign Het
Pkd1l3 A C 8: 109,667,525 probably null Het
Plcd1 C T 9: 119,073,789 R527H probably damaging Het
Rexo2 C T 9: 48,468,915 E206K probably damaging Het
Ropn1 C A 16: 34,666,778 T28N possibly damaging Het
Ropn1 A T 16: 34,666,771 I26F probably damaging Het
Rpgrip1l T A 8: 91,252,544 S998C probably benign Het
Rpgrip1l C A 8: 91,252,543 S998I probably benign Het
Scap T C 9: 110,378,789 probably null Het
Sec23b T C 2: 144,559,230 Y4H probably damaging Het
Sfrp4 C A 13: 19,623,630 D66E possibly damaging Het
Slc25a36 T C 9: 97,080,481 T13A probably benign Het
Synpr A T 14: 13,608,576 I119F possibly damaging Het
Tamm41 A C 6: 115,016,098 H109Q probably benign Het
Tet1 A T 10: 62,878,588 I476K possibly damaging Het
Tg A T 15: 66,729,566 I142F probably benign Het
Thada A T 17: 84,393,358 probably null Het
Triobp T C 15: 78,993,368 L1654P probably damaging Het
Trpm7 A G 2: 126,826,818 V726A probably damaging Het
Txndc15 T G 13: 55,721,625 V197G probably damaging Het
Ubr3 A T 2: 69,973,572 T1169S probably benign Het
Uhmk1 C T 1: 170,207,113 probably null Het
Vmn2r16 T A 5: 109,340,311 M350K probably benign Het
Vmn2r77 G A 7: 86,811,649 V728I probably benign Het
Wipf1 G A 2: 73,447,881 P7S unknown Het
Zswim3 A G 2: 164,820,002 D134G probably damaging Het
Other mutations in Alg9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02792:Alg9 APN 9 50842748 missense possibly damaging 0.90
gum_drop UTSW 9 50805354 missense possibly damaging 0.90
FR4976:Alg9 UTSW 9 50775431 unclassified probably benign
R1183:Alg9 UTSW 9 50789533 missense possibly damaging 0.82
R1270:Alg9 UTSW 9 50787572 intron probably benign
R1575:Alg9 UTSW 9 50775502 missense possibly damaging 0.65
R1773:Alg9 UTSW 9 50779096 missense probably benign 0.30
R1837:Alg9 UTSW 9 50806315 missense probably damaging 1.00
R2011:Alg9 UTSW 9 50788200 missense probably damaging 1.00
R4324:Alg9 UTSW 9 50805343 missense probably damaging 1.00
R4514:Alg9 UTSW 9 50805354 missense possibly damaging 0.90
R4544:Alg9 UTSW 9 50805354 missense possibly damaging 0.90
R4546:Alg9 UTSW 9 50805354 missense possibly damaging 0.90
R4996:Alg9 UTSW 9 50808705 missense probably damaging 1.00
R5007:Alg9 UTSW 9 50788224 missense probably damaging 1.00
R5053:Alg9 UTSW 9 50788172 missense probably damaging 1.00
R5308:Alg9 UTSW 9 50822711 missense possibly damaging 0.95
R6803:Alg9 UTSW 9 50789560 missense probably benign 0.37
R6994:Alg9 UTSW 9 50792122 nonsense probably null
R6998:Alg9 UTSW 9 50789621 missense possibly damaging 0.95
R7298:Alg9 UTSW 9 50779061 missense probably damaging 0.97
R7480:Alg9 UTSW 9 50822628 missense probably benign 0.06
R7561:Alg9 UTSW 9 50842774 missense possibly damaging 0.95
R7578:Alg9 UTSW 9 50789535 missense probably benign
R7721:Alg9 UTSW 9 50776642 missense probably damaging 0.99
R7829:Alg9 UTSW 9 50788171 missense probably damaging 1.00
R7847:Alg9 UTSW 9 50789605 missense possibly damaging 0.62
R7878:Alg9 UTSW 9 50842783 missense probably benign 0.00
R8113:Alg9 UTSW 9 50808780 nonsense probably null
R8257:Alg9 UTSW 9 50779087 missense possibly damaging 0.62
RF003:Alg9 UTSW 9 50775427 unclassified probably benign
RF006:Alg9 UTSW 9 50775417 unclassified probably benign
RF058:Alg9 UTSW 9 50775427 unclassified probably benign
Z1177:Alg9 UTSW 9 50788173 missense probably damaging 1.00
Posted On2013-12-09