Incidental Mutation 'IGL01412:Man1a'
ID 80092
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Man1a
Ensembl Gene ENSMUSG00000003746
Gene Name mannosidase 1, alpha
Synonyms PCR1, mannosyl-oligosaccharide alpha-1,2-mannosidase
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # IGL01412
Quality Score
Status
Chromosome 10
Chromosomal Location 53780881-53952705 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53950810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 195 (V195A)
Ref Sequence ENSEMBL: ENSMUSP00000151568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003843] [ENSMUST00000105470] [ENSMUST00000220088] [ENSMUST00000218317]
AlphaFold P45700
Predicted Effect probably benign
Transcript: ENSMUST00000003843
AA Change: V104A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003843
Gene: ENSMUSG00000003746
AA Change: V104A

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 noncoding transcript
Transcript: ENSMUST00000105469
SMART Domains Protein: ENSMUSP00000101109
Gene: ENSMUSG00000003746

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_47 204 332 2.5e-38 PFAM
coiled coil region 346 376 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105470
AA Change: V104A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101110
Gene: ENSMUSG00000003746
AA Change: V104A

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 noncoding transcript
Transcript: ENSMUST00000133330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181899
Predicted Effect probably benign
Transcript: ENSMUST00000220088
AA Change: V195A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000218317
AA Change: V104A

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik G A 15: 12,815,958 (GRCm39) Q222* probably null Het
Adamts2 A G 11: 50,686,230 (GRCm39) E1016G probably benign Het
Agmo G A 12: 37,452,140 (GRCm39) E269K possibly damaging Het
Agrn A T 4: 156,255,491 (GRCm39) probably benign Het
Alpk1 A T 3: 127,473,621 (GRCm39) L794Q possibly damaging Het
Asb14 T A 14: 26,637,022 (GRCm39) L588H probably damaging Het
Btbd16 A T 7: 130,407,549 (GRCm39) probably null Het
Cacna1h T C 17: 25,610,924 (GRCm39) K625E probably benign Het
Cdh23 T C 10: 60,150,473 (GRCm39) D2499G probably damaging Het
Cdhr2 A T 13: 54,873,707 (GRCm39) D687V probably damaging Het
Cops8 G T 1: 90,532,153 (GRCm39) L45F possibly damaging Het
D130043K22Rik A G 13: 25,071,843 (GRCm39) H929R probably damaging Het
Dnah12 A G 14: 26,492,962 (GRCm39) E1241G probably damaging Het
Dock4 T A 12: 40,780,040 (GRCm39) probably benign Het
Dsg1c A G 18: 20,380,518 (GRCm39) I8V probably benign Het
Dst T C 1: 34,281,701 (GRCm39) V5435A probably benign Het
Fat4 A G 3: 38,945,330 (GRCm39) I1408V probably benign Het
Fhit G T 14: 9,870,065 (GRCm38) H72N probably damaging Het
Foxp2 C A 6: 15,376,757 (GRCm39) probably benign Het
Fpgt T C 3: 154,792,359 (GRCm39) Q556R probably benign Het
Galntl6 T A 8: 58,230,328 (GRCm39) E30V probably damaging Het
Gemin4 A T 11: 76,104,311 (GRCm39) V150D probably benign Het
Grm8 C T 6: 27,762,460 (GRCm39) R255H probably damaging Het
Hapln3 G A 7: 78,767,184 (GRCm39) probably null Het
Htt T A 5: 35,055,916 (GRCm39) L2609Q probably damaging Het
Igdcc4 A G 9: 65,021,731 (GRCm39) probably benign Het
Isx T C 8: 75,619,306 (GRCm39) L166P probably benign Het
Kcnt2 G A 1: 140,498,155 (GRCm39) M884I probably benign Het
Leo1 A G 9: 75,373,524 (GRCm39) N650D probably benign Het
Map2k5 A T 9: 63,200,988 (GRCm39) I215N probably damaging Het
Mier2 A G 10: 79,377,014 (GRCm39) *542R probably null Het
Mrgbp T A 2: 180,225,209 (GRCm39) F55Y probably damaging Het
Nadsyn1 A T 7: 143,362,527 (GRCm39) probably null Het
Nedd9 A T 13: 41,469,262 (GRCm39) Y630* probably null Het
Nrp1 T C 8: 129,145,188 (GRCm39) probably benign Het
Or4k15b A G 14: 50,272,770 (GRCm39) I30T probably benign Het
Or51q1c T A 7: 103,652,842 (GRCm39) M120K probably damaging Het
Or52z12 A G 7: 103,234,114 (GRCm39) N295S probably damaging Het
Or5w17 A T 2: 87,583,461 (GRCm39) L292Q probably damaging Het
Or7g21 T A 9: 19,032,895 (GRCm39) C212S probably benign Het
Pcnx1 A T 12: 81,953,239 (GRCm39) I127F probably damaging Het
Pik3ap1 T C 19: 41,364,329 (GRCm39) E130G possibly damaging Het
Pkd1l1 G T 11: 8,900,409 (GRCm39) T44N possibly damaging Het
Polr1c A G 17: 46,555,135 (GRCm39) S226P probably damaging Het
Pramel28 A C 4: 143,691,565 (GRCm39) V386G probably damaging Het
Prep A G 10: 45,029,208 (GRCm39) Y536C probably damaging Het
Ptprb A G 10: 116,179,820 (GRCm39) T1413A probably benign Het
Pwwp3a T A 10: 80,070,163 (GRCm39) probably null Het
Ryr2 T A 13: 11,756,922 (GRCm39) K1577N probably benign Het
Selplg G T 5: 113,957,529 (GRCm39) T33K probably damaging Het
Slc26a5 T A 5: 22,020,734 (GRCm39) I505L probably damaging Het
Slc39a6 T C 18: 24,718,413 (GRCm39) N548S probably damaging Het
Sp7 T C 15: 102,267,798 (GRCm39) T3A possibly damaging Het
Tango6 T C 8: 107,545,131 (GRCm39) V998A probably benign Het
Tas2r130 A T 6: 131,607,473 (GRCm39) Y107* probably null Het
Tjp2 T C 19: 24,078,139 (GRCm39) E918G probably damaging Het
Trim12a C T 7: 103,956,202 (GRCm39) A113T probably benign Het
Zan T A 5: 137,391,294 (GRCm39) D4730V unknown Het
Zfp607a A T 7: 27,578,109 (GRCm39) D393V probably damaging Het
Other mutations in Man1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Man1a APN 10 53,853,109 (GRCm39) splice site probably benign
IGL01146:Man1a APN 10 53,783,615 (GRCm39) missense possibly damaging 0.90
IGL02009:Man1a APN 10 53,801,621 (GRCm39) missense probably damaging 1.00
IGL02026:Man1a APN 10 53,890,569 (GRCm39) missense probably damaging 1.00
IGL02745:Man1a APN 10 53,853,206 (GRCm39) missense probably damaging 0.99
IGL02851:Man1a APN 10 53,795,340 (GRCm39) missense probably damaging 1.00
IGL02929:Man1a APN 10 53,801,531 (GRCm39) missense probably benign 0.00
R0046:Man1a UTSW 10 53,795,283 (GRCm39) missense probably damaging 1.00
R0046:Man1a UTSW 10 53,795,283 (GRCm39) missense probably damaging 1.00
R0101:Man1a UTSW 10 53,951,120 (GRCm39) start codon destroyed probably null
R0200:Man1a UTSW 10 53,950,594 (GRCm39) missense probably damaging 0.96
R0463:Man1a UTSW 10 53,950,594 (GRCm39) missense probably damaging 0.96
R0947:Man1a UTSW 10 53,809,619 (GRCm39) nonsense probably null
R1219:Man1a UTSW 10 53,795,249 (GRCm39) splice site probably benign
R1876:Man1a UTSW 10 53,795,268 (GRCm39) missense probably damaging 1.00
R2142:Man1a UTSW 10 53,811,094 (GRCm39) missense probably damaging 1.00
R2219:Man1a UTSW 10 53,853,145 (GRCm39) missense probably damaging 0.99
R3117:Man1a UTSW 10 53,906,890 (GRCm39) missense probably damaging 0.97
R3119:Man1a UTSW 10 53,906,890 (GRCm39) missense probably damaging 0.97
R4727:Man1a UTSW 10 53,783,668 (GRCm39) splice site probably null
R4942:Man1a UTSW 10 53,809,586 (GRCm39) critical splice donor site probably null
R5493:Man1a UTSW 10 53,950,576 (GRCm39) missense probably benign 0.25
R5921:Man1a UTSW 10 53,783,606 (GRCm39) missense probably damaging 0.97
R5965:Man1a UTSW 10 53,809,586 (GRCm39) critical splice donor site probably benign
R6084:Man1a UTSW 10 53,795,307 (GRCm39) missense probably damaging 1.00
R6199:Man1a UTSW 10 53,890,552 (GRCm39) missense possibly damaging 0.70
R6362:Man1a UTSW 10 53,950,891 (GRCm39) missense probably benign 0.25
R6543:Man1a UTSW 10 53,811,077 (GRCm39) nonsense probably null
R6711:Man1a UTSW 10 53,809,588 (GRCm39) missense probably benign 0.00
R6982:Man1a UTSW 10 53,950,819 (GRCm39) missense possibly damaging 0.92
R7061:Man1a UTSW 10 53,796,331 (GRCm39) missense probably damaging 1.00
R7063:Man1a UTSW 10 53,906,840 (GRCm39) missense probably damaging 1.00
R7220:Man1a UTSW 10 53,796,331 (GRCm39) missense possibly damaging 0.95
R7361:Man1a UTSW 10 53,784,105 (GRCm39) missense probably damaging 1.00
R7392:Man1a UTSW 10 53,795,283 (GRCm39) missense probably damaging 1.00
R7566:Man1a UTSW 10 53,795,330 (GRCm39) missense possibly damaging 0.93
R7864:Man1a UTSW 10 53,906,843 (GRCm39) missense possibly damaging 0.88
R8338:Man1a UTSW 10 53,801,643 (GRCm39) critical splice acceptor site probably null
R9294:Man1a UTSW 10 53,809,587 (GRCm39) critical splice donor site probably null
R9590:Man1a UTSW 10 53,784,060 (GRCm39) missense probably damaging 1.00
R9629:Man1a UTSW 10 53,796,158 (GRCm39) missense probably damaging 1.00
Z1176:Man1a UTSW 10 53,795,411 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05