Incidental Mutation 'IGL02009:Man1a'
ID182280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Man1a
Ensembl Gene ENSMUSG00000003746
Gene Namemannosidase 1, alpha
Synonymsmannosyl-oligosaccharide alpha-1,2-mannosidase, PCR1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.709) question?
Stock #IGL02009
Quality Score
Status
Chromosome10
Chromosomal Location53904785-54076609 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 53925525 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 413 (L413F)
Ref Sequence ENSEMBL: ENSMUSP00000101110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003843] [ENSMUST00000105470] [ENSMUST00000218317] [ENSMUST00000220088]
Predicted Effect probably damaging
Transcript: ENSMUST00000003843
AA Change: L413F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003843
Gene: ENSMUSG00000003746
AA Change: L413F

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
coiled coil region 116 151 N/A INTRINSIC
Pfam:Glyco_hydro_47 204 642 4.6e-150 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105470
AA Change: L413F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101110
Gene: ENSMUSG00000003746
AA Change: L413F

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
coiled coil region 116 151 N/A INTRINSIC
Pfam:Glyco_hydro_47 204 642 4.5e-153 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219234
Predicted Effect possibly damaging
Transcript: ENSMUST00000220088
AA Change: L504F

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
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 class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548H24Rik C T 5: 31,487,491 T196I probably benign Het
Aldh1a3 T C 7: 66,402,041 D388G probably benign Het
Ankhd1 C A 18: 36,624,661 Q803K probably damaging Het
Arrdc3 A G 13: 80,893,380 N180S probably benign Het
Atp11b G A 3: 35,814,152 E458K probably benign Het
Bend6 G A 1: 33,862,746 A185V probably benign Het
C530008M17Rik A G 5: 76,848,970 T92A possibly damaging Het
Chd5 A G 4: 152,366,213 D632G probably damaging Het
Clec4a1 A T 6: 122,932,216 H181L probably benign Het
Cntnap5a T A 1: 116,157,494 D387E probably benign Het
Colq G A 14: 31,535,642 S256F possibly damaging Het
Ctdp1 A G 18: 80,455,972 Y252H probably damaging Het
Cyp4f17 T A 17: 32,524,880 L344Q probably damaging Het
Fam83b A G 9: 76,492,322 Y500H probably damaging Het
Gapvd1 G A 2: 34,704,191 P949L probably damaging Het
Gp5 A G 16: 30,309,664 I64T probably benign Het
Il31ra A G 13: 112,533,867 V248A probably damaging Het
Kdm4a C T 4: 118,160,169 A567T probably benign Het
Kpna7 T C 5: 144,994,078 probably null Het
Lrrc8c G A 5: 105,607,391 R344H probably damaging Het
Man1a2 A T 3: 100,684,662 D67E probably damaging Het
Mkln1 G A 6: 31,449,520 S243N probably benign Het
Mmp19 T A 10: 128,798,487 M299K probably benign Het
Msantd2 T C 9: 37,523,390 F309L possibly damaging Het
Mstn A G 1: 53,062,150 probably benign Het
Nat8f5 A C 6: 85,817,426 I184R probably benign Het
Olfr1160 G T 2: 88,006,773 Q2K probably benign Het
Olfr1173 C T 2: 88,274,712 M112I probably benign Het
Pigc A G 1: 161,970,565 K39E probably damaging Het
Pms2 T A 5: 143,925,764 L563Q probably benign Het
Rpap1 A G 2: 119,780,113 S162P possibly damaging Het
Rpl3l A G 17: 24,732,433 K103E probably damaging Het
Slc45a1 A T 4: 150,637,990 V479E probably damaging Het
Themis2 A T 4: 132,785,442 L491Q probably damaging Het
Vmn2r17 A T 5: 109,452,848 I671L possibly damaging Het
Vmn2r6 C A 3: 64,537,902 V712L possibly damaging Het
Zzz3 A G 3: 152,428,115 D270G possibly damaging Het
Other mutations in Man1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Man1a APN 10 53977013 splice site probably benign
IGL01146:Man1a APN 10 53907519 missense possibly damaging 0.90
IGL01412:Man1a APN 10 54074714 missense probably benign 0.00
IGL02026:Man1a APN 10 54014473 missense probably damaging 1.00
IGL02745:Man1a APN 10 53977110 missense probably damaging 0.99
IGL02851:Man1a APN 10 53919244 missense probably damaging 1.00
IGL02929:Man1a APN 10 53925435 missense probably benign 0.00
R0046:Man1a UTSW 10 53919187 missense probably damaging 1.00
R0046:Man1a UTSW 10 53919187 missense probably damaging 1.00
R0101:Man1a UTSW 10 54075024 start codon destroyed probably null
R0200:Man1a UTSW 10 54074498 missense probably damaging 0.96
R0463:Man1a UTSW 10 54074498 missense probably damaging 0.96
R0947:Man1a UTSW 10 53933523 nonsense probably null
R1219:Man1a UTSW 10 53919153 splice site probably benign
R1876:Man1a UTSW 10 53919172 missense probably damaging 1.00
R2142:Man1a UTSW 10 53934998 missense probably damaging 1.00
R2219:Man1a UTSW 10 53977049 missense probably damaging 0.99
R3117:Man1a UTSW 10 54030794 missense probably damaging 0.97
R3119:Man1a UTSW 10 54030794 missense probably damaging 0.97
R4727:Man1a UTSW 10 53907572 splice site probably null
R4942:Man1a UTSW 10 53933490 critical splice donor site probably null
R5493:Man1a UTSW 10 54074480 missense probably benign 0.25
R5921:Man1a UTSW 10 53907510 missense probably damaging 0.97
R5965:Man1a UTSW 10 53933490 critical splice donor site probably benign
R6084:Man1a UTSW 10 53919211 missense probably damaging 1.00
R6199:Man1a UTSW 10 54014456 missense possibly damaging 0.70
R6362:Man1a UTSW 10 54074795 missense probably benign 0.25
R6543:Man1a UTSW 10 53934981 nonsense probably null
R6711:Man1a UTSW 10 53933492 missense probably benign 0.00
R6982:Man1a UTSW 10 54074723 missense possibly damaging 0.92
R7061:Man1a UTSW 10 53920235 missense probably damaging 1.00
R7063:Man1a UTSW 10 54030744 missense probably damaging 1.00
R7220:Man1a UTSW 10 53920235 missense possibly damaging 0.95
R7361:Man1a UTSW 10 53908009 missense probably damaging 1.00
R7392:Man1a UTSW 10 53919187 missense probably damaging 1.00
R7566:Man1a UTSW 10 53919234 missense possibly damaging 0.93
R7864:Man1a UTSW 10 54030747 missense possibly damaging 0.88
R7947:Man1a UTSW 10 54030747 missense possibly damaging 0.88
Z1176:Man1a UTSW 10 53919315 missense probably damaging 1.00
Posted On2014-05-07