Incidental Mutation 'R4727:Man1a'
ID 358544
Institutional Source Beutler Lab
Gene Symbol Man1a
Ensembl Gene ENSMUSG00000003746
Gene Name mannosidase 1, alpha
Synonyms PCR1, mannosyl-oligosaccharide alpha-1,2-mannosidase
MMRRC Submission 041602-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R4727 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 53780881-53952705 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 53783668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003843] [ENSMUST00000105470] [ENSMUST00000105470] [ENSMUST00000218317] [ENSMUST00000220088]
AlphaFold P45700
Predicted Effect probably null
Transcript: ENSMUST00000003843
SMART Domains Protein: ENSMUSP00000003843
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_47 204 642 4.6e-150 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105470
SMART Domains Protein: ENSMUSP00000101110
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_47 204 642 4.5e-153 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105470
SMART Domains Protein: ENSMUSP00000101110
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_47 204 642 4.5e-153 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218317
Predicted Effect probably null
Transcript: ENSMUST00000220088
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,062,489 (GRCm39) N483S probably benign Het
Acoxl T G 2: 127,820,658 (GRCm39) L70R probably damaging Het
Ankrd44 A T 1: 54,706,576 (GRCm39) F627I probably benign Het
Ash2l A T 8: 26,308,623 (GRCm39) I552N probably damaging Het
B4galt1 A G 4: 40,807,812 (GRCm39) S330P probably damaging Het
Bnip3 T C 7: 138,500,435 (GRCm39) S52G probably damaging Het
Btd A G 14: 31,384,278 (GRCm39) Q88R probably benign Het
C4bp A G 1: 130,566,922 (GRCm39) V318A probably benign Het
Cacna1e G A 1: 154,312,214 (GRCm39) Q1530* probably null Het
Calm1 T C 12: 100,166,485 (GRCm39) F23S probably benign Het
Cep290 T G 10: 100,399,132 (GRCm39) I2218R probably benign Het
Ces2c T C 8: 105,574,672 (GRCm39) I43T probably benign Het
Cyp2d9 T C 15: 82,338,602 (GRCm39) L1P probably null Het
Dgki C A 6: 37,276,748 (GRCm39) probably benign Het
Dhh A G 15: 98,796,023 (GRCm39) L44P probably damaging Het
Dnah12 A G 14: 26,594,274 (GRCm39) I3409V probably damaging Het
Dnah7b G A 1: 46,246,816 (GRCm39) R1664H probably damaging Het
Dnah8 T C 17: 31,070,721 (GRCm39) M4469T probably damaging Het
Ehhadh T C 16: 21,581,181 (GRCm39) I604V probably benign Het
Esr1 A G 10: 4,951,418 (GRCm39) I599V probably benign Het
Faf1 G A 4: 109,697,564 (GRCm39) D297N probably damaging Het
Gfra1 A T 19: 58,252,386 (GRCm39) N380K probably damaging Het
Ghitm A G 14: 36,855,700 (GRCm39) C8R probably damaging Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Itsn2 A G 12: 4,757,660 (GRCm39) Y1424C probably damaging Het
Kcnj10 A G 1: 172,197,266 (GRCm39) D260G probably damaging Het
Klf16 T C 10: 80,405,020 (GRCm39) D164G probably damaging Het
Klhdc7b T A 15: 89,271,785 (GRCm39) L889Q probably damaging Het
Lcmt2 C G 2: 120,969,911 (GRCm39) V171L probably benign Het
Lrp11 A G 10: 7,466,348 (GRCm39) E153G probably benign Het
Lrrc43 A T 5: 123,632,366 (GRCm39) T170S probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Mmp24 C T 2: 155,657,819 (GRCm39) P570S possibly damaging Het
Ms4a3 A G 19: 11,608,742 (GRCm39) M170T probably damaging Het
Naip5 C A 13: 100,358,378 (GRCm39) A953S possibly damaging Het
Nfrkb T C 9: 31,314,919 (GRCm39) S580P probably damaging Het
Or51q1c T G 7: 103,653,097 (GRCm39) V205G probably benign Het
Or8b38 T C 9: 37,973,389 (GRCm39) Y258H probably damaging Het
Padi6 T G 4: 140,458,506 (GRCm39) D462A probably damaging Het
Pde6a A G 18: 61,364,561 (GRCm39) R206G probably benign Het
Plk4 A G 3: 40,759,589 (GRCm39) N162D probably benign Het
Ptpn13 T A 5: 103,717,721 (GRCm39) D1922E probably benign Het
Rangap1 G A 15: 81,613,956 (GRCm39) probably benign Het
Rapgef3 A G 15: 97,658,481 (GRCm39) L175P probably damaging Het
Rps6kb1 G C 11: 86,435,484 (GRCm39) probably null Het
Satb1 T C 17: 52,111,375 (GRCm39) Y161C probably damaging Het
Sel1l3 C A 5: 53,301,525 (GRCm39) probably null Het
Slc17a7 C T 7: 44,822,358 (GRCm39) S398L possibly damaging Het
Slc22a4 T A 11: 53,918,477 (GRCm39) E109V possibly damaging Het
Slc26a7 C T 4: 14,590,477 (GRCm39) A105T probably damaging Het
Slc47a1 T C 11: 61,254,277 (GRCm39) N145S possibly damaging Het
Tank A G 2: 61,483,876 (GRCm39) T441A probably benign Het
Tefm T C 11: 80,031,279 (GRCm39) probably benign Het
Ttbk2 T C 2: 120,575,851 (GRCm39) Y1042C probably benign Het
Wdfy3 T C 5: 102,077,894 (GRCm39) Q892R probably damaging Het
Wdr33 T A 18: 32,021,500 (GRCm39) H683Q unknown Het
Zfp36l2 T A 17: 84,495,089 (GRCm39) I12F probably benign Het
Zfyve26 A T 12: 79,291,170 (GRCm39) M2145K probably benign 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
IGL01412:Man1a APN 10 53,950,810 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TTATTAAGGTATGCAGTGAGGGAAC -3'
(R):5'- GTCTCAGTGCAGGCATTTGC -3'

Sequencing Primer
(F):5'- TATGCAGTGAGGGAACGAAGC -3'
(R):5'- GCAGGCATTTGCAGTCATC -3'
Posted On 2015-11-11