Incidental Mutation 'IGL03248:Man2a1'
ID414475
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Man2a1
Ensembl Gene ENSMUSG00000024085
Gene Namemannosidase 2, alpha 1
SynonymsMana2, Map-2, Mana-2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.871) question?
Stock #IGL03248
Quality Score
Status
Chromosome17
Chromosomal Location64600736-64755110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64713611 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 794 (F794S)
Ref Sequence ENSEMBL: ENSMUSP00000083928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086723] [ENSMUST00000169668]
Predicted Effect probably damaging
Transcript: ENSMUST00000086723
AA Change: F794S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: F794S

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
coiled coil region 45 74 N/A INTRINSIC
Pfam:Glyco_hydro_38 166 496 2.3e-111 PFAM
Alpha-mann_mid 501 587 5.39e-34 SMART
Pfam:Glyco_hydro_38C 648 1144 1.5e-98 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169239
Predicted Effect probably benign
Transcript: ENSMUST00000169668
SMART Domains Protein: ENSMUSP00000130529
Gene: ENSMUSG00000024085

DomainStartEndE-ValueType
Pfam:Glyco_hydro_38C 1 268 1.6e-50 PFAM
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 a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous mutation of this gene results in premature death, dyserythropoiesis, systemic autoimmune disease, including an increase in serum immunoglobulins, glomerulonephritis, and hematuria, [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,368,225 F116S probably damaging Het
Accsl A G 2: 93,862,784 probably benign Het
Adgrl2 T A 3: 148,817,400 E165V probably damaging Het
Alb T C 5: 90,461,714 probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgef10 T C 8: 14,928,847 V38A probably benign Het
Astn2 A G 4: 65,746,293 probably benign Het
Bahcc1 G A 11: 120,268,409 R154H probably damaging Het
Cep120 A G 18: 53,735,772 Y112H probably benign Het
Chrna5 C T 9: 55,004,639 T241I probably damaging Het
Clasp1 A G 1: 118,602,476 S1215G probably benign Het
Ddx21 C T 10: 62,591,990 R378Q possibly damaging Het
Dnah1 A T 14: 31,269,889 L3052Q probably damaging Het
Dyrk4 G T 6: 126,884,053 T445K probably benign Het
Ercc4 T C 16: 13,127,593 W291R probably damaging Het
Fam208a C T 14: 27,476,692 T1327I probably damaging Het
Flvcr1 A G 1: 191,025,742 W76R probably damaging Het
Frmd3 A G 4: 74,128,218 I132V possibly damaging Het
Gnb4 T C 3: 32,585,175 D323G probably damaging Het
Hnrnpc G A 14: 52,075,439 probably benign Het
Hnrnpl T C 7: 28,814,080 S202P probably benign Het
Hydin T A 8: 110,595,289 F4524L probably damaging Het
Iars2 A G 1: 185,291,432 probably benign Het
Ino80d A G 1: 63,068,182 probably null Het
Itga8 C A 2: 12,132,516 A13S probably benign Het
Mpp7 T C 18: 7,403,269 D347G probably benign Het
Nup93 T C 8: 94,306,088 L411P probably damaging Het
Olfr564 C T 7: 102,803,639 Q54* probably null Het
Plin1 C T 7: 79,722,634 V86I probably damaging Het
Rgs6 A G 12: 83,052,550 probably benign Het
Shroom3 C T 5: 92,952,540 P1473S probably benign Het
Slc12a8 A G 16: 33,551,027 I178V probably damaging Het
Slc20a2 T A 8: 22,558,983 S219T probably benign Het
Tfeb T C 17: 47,786,995 M36T probably benign Het
Trim33 G A 3: 103,310,973 probably benign Het
Trnau1ap A G 4: 132,321,803 Y30H probably damaging Het
Tulp1 T C 17: 28,359,324 K276E possibly damaging Het
Uvssa T A 5: 33,391,816 I340N probably damaging Het
Vmn1r32 T A 6: 66,552,913 N293I possibly damaging Het
Xpc T C 6: 91,504,583 N250S probably damaging Het
Ybey T C 10: 76,468,327 I14V probably benign Het
Zfhx3 T C 8: 108,946,550 Y1411H probably damaging Het
Other mutations in Man2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01390:Man2a1 APN 17 64710705 missense probably benign 0.00
IGL01823:Man2a1 APN 17 64666824 missense probably damaging 0.99
IGL02012:Man2a1 APN 17 64666899 missense probably damaging 0.98
IGL02589:Man2a1 APN 17 64679778 missense probably benign 0.01
R0070:Man2a1 UTSW 17 64659079 splice site probably null
R0092:Man2a1 UTSW 17 64659084 splice site probably benign
R1347:Man2a1 UTSW 17 64712450 missense probably damaging 0.98
R1347:Man2a1 UTSW 17 64712450 missense probably damaging 0.98
R1376:Man2a1 UTSW 17 64672043 missense possibly damaging 0.50
R1376:Man2a1 UTSW 17 64672043 missense possibly damaging 0.50
R1599:Man2a1 UTSW 17 64679831 missense possibly damaging 0.80
R1799:Man2a1 UTSW 17 64669497 missense probably damaging 1.00
R1799:Man2a1 UTSW 17 64752457 missense probably benign 0.12
R1822:Man2a1 UTSW 17 64740842 missense probably damaging 1.00
R1958:Man2a1 UTSW 17 64750835 missense probably benign 0.00
R2852:Man2a1 UTSW 17 64713601 missense probably benign 0.00
R4324:Man2a1 UTSW 17 64666793 missense probably benign 0.00
R4582:Man2a1 UTSW 17 64752499 missense probably benign 0.00
R4610:Man2a1 UTSW 17 64712459 missense probably benign
R4803:Man2a1 UTSW 17 64659009 missense probably damaging 1.00
R5072:Man2a1 UTSW 17 64659079 splice site probably null
R5109:Man2a1 UTSW 17 64752448 missense probably benign 0.31
R5223:Man2a1 UTSW 17 64712271 missense probably benign 0.17
R5229:Man2a1 UTSW 17 64710734 missense probably benign 0.00
R5238:Man2a1 UTSW 17 64636507 missense probably damaging 1.00
R5273:Man2a1 UTSW 17 64733785 missense probably damaging 1.00
R5289:Man2a1 UTSW 17 64651227 missense probably damaging 0.99
R5352:Man2a1 UTSW 17 64731246 missense probably damaging 1.00
R5428:Man2a1 UTSW 17 64712300 missense probably benign 0.00
R5898:Man2a1 UTSW 17 64625380 missense probably benign 0.01
R5942:Man2a1 UTSW 17 64625380 missense probably benign 0.01
R5943:Man2a1 UTSW 17 64625380 missense probably benign 0.01
R5963:Man2a1 UTSW 17 64675122 missense probably benign
R5969:Man2a1 UTSW 17 64625380 missense probably benign 0.01
R5970:Man2a1 UTSW 17 64625380 missense probably benign 0.01
R6164:Man2a1 UTSW 17 64733724 missense possibly damaging 0.87
R6207:Man2a1 UTSW 17 64713605 missense probably benign 0.02
R6245:Man2a1 UTSW 17 64710826 missense probably damaging 0.97
R6724:Man2a1 UTSW 17 64731269 missense possibly damaging 0.91
R6759:Man2a1 UTSW 17 64625388 missense probably benign 0.00
R6778:Man2a1 UTSW 17 64714635 missense possibly damaging 0.69
R7250:Man2a1 UTSW 17 64636588 missense probably benign 0.00
R7354:Man2a1 UTSW 17 64752544 missense probably damaging 1.00
R7833:Man2a1 UTSW 17 64666751 missense probably damaging 0.99
R7991:Man2a1 UTSW 17 64601776 missense probably benign 0.28
R8489:Man2a1 UTSW 17 64601770 missense possibly damaging 0.64
R8540:Man2a1 UTSW 17 64658987 missense probably benign
RF007:Man2a1 UTSW 17 64712253 missense probably damaging 0.98
Z1177:Man2a1 UTSW 17 64659020 missense probably damaging 1.00
Z1177:Man2a1 UTSW 17 64735054 missense probably benign
Posted On2016-08-02