Incidental Mutation 'IGL02929:Man1a'
ID364019
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? Probably essential (E-score: 0.770) question?
Stock #IGL02929
Quality Score
Status
Chromosome10
Chromosomal Location53904785-54076609 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 53925435 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 443 (V443I)
Ref Sequence ENSEMBL: ENSMUSP00000101110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003843] [ENSMUST00000105470] [ENSMUST00000218317] [ENSMUST00000220088]
Predicted Effect probably benign
Transcript: ENSMUST00000003843
AA Change: V443I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000003843
Gene: ENSMUSG00000003746
AA Change: V443I

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 benign
Transcript: ENSMUST00000105470
AA Change: V443I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101110
Gene: ENSMUSG00000003746
AA Change: V443I

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 probably benign
Transcript: ENSMUST00000220088
AA Change: V534I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,245,082 M75K possibly damaging Het
A330070K13Rik A G 5: 130,384,411 probably null Het
Abcb5 T C 12: 118,944,939 Y90C probably damaging Het
Accs T C 2: 93,844,221 D112G probably damaging Het
Adam32 C A 8: 24,872,643 V13L possibly damaging Het
Adgrb3 A G 1: 25,553,824 V294A probably benign Het
Aes T A 10: 81,564,838 probably null Het
Agt G T 8: 124,557,090 A430E probably benign Het
Agxt2 T C 15: 10,388,293 probably benign Het
Atp2a1 A T 7: 126,456,944 I235N probably damaging Het
Atp8b1 T C 18: 64,561,662 I516M possibly damaging Het
Atrx T C X: 105,879,906 probably null Het
Brcc3 T C X: 75,435,499 V117A possibly damaging Het
Casp8ap2 T C 4: 32,624,105 probably benign Het
Ceacam3 T A 7: 17,158,190 V286D probably damaging Het
Cpb1 T C 3: 20,275,466 D32G probably benign Het
Cpsf1 C A 15: 76,602,127 probably null Het
Dock2 A T 11: 34,268,048 V1174E probably damaging Het
Dqx1 A G 6: 83,060,484 probably benign Het
Ercc1 T C 7: 19,355,363 probably null Het
Fn1 A G 1: 71,595,662 probably null Het
Ice1 A G 13: 70,596,203 L2087P probably damaging Het
Ift122 A G 6: 115,902,877 D612G probably damaging Het
Igkv6-25 A G 6: 70,215,945 Y112C probably damaging Het
Kit C A 5: 75,640,769 P572Q probably damaging Het
Kras A G 6: 145,232,089 probably benign Het
Ltv1 T C 10: 13,192,226 K6R possibly damaging Het
Mat2b A C 11: 40,684,713 D154E probably benign Het
Mtrf1 A G 14: 79,402,833 K143E probably benign Het
Myh13 A C 11: 67,367,165 I95L probably damaging Het
Myo7b A T 18: 31,994,925 D571E probably benign Het
Nek10 T A 14: 14,821,119 D28E possibly damaging Het
Npm2 T A 14: 70,652,238 probably null Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Plcb2 G A 2: 118,713,234 probably benign Het
Ppp1r3a A G 6: 14,719,811 M368T probably benign Het
Rnf123 G T 9: 108,069,076 T300K probably benign Het
Sbspon A G 1: 15,883,845 probably benign Het
Slc52a2 G A 15: 76,540,576 C338Y probably benign Het
Tdrd6 T A 17: 43,629,713 Q148L possibly damaging Het
Trpc3 T A 3: 36,638,474 K790* probably null Het
Ushbp1 C T 8: 71,394,476 A171T probably damaging Het
Usp32 T C 11: 84,988,372 T1504A probably benign Het
Wdr78 C T 4: 103,059,991 W552* probably null 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
IGL02009:Man1a APN 10 53925525 missense probably damaging 1.00
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
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 not run
Posted On2015-12-18