Incidental Mutation 'R6199:Man1a'
ID 503107
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 044339-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R6199 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 53780881-53952705 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53890552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 288 (V288I)
Ref Sequence ENSEMBL: ENSMUSP00000151328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003843] [ENSMUST00000105470] [ENSMUST00000218317] [ENSMUST00000220088]
AlphaFold P45700
Predicted Effect probably benign
Transcript: ENSMUST00000003843
AA Change: V288I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000003843
Gene: ENSMUSG00000003746
AA Change: V288I

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: V288I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000101110
Gene: ENSMUSG00000003746
AA Change: V288I

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 possibly damaging
Transcript: ENSMUST00000218317
AA Change: V288I

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000220088
AA Change: V379I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.1388 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A T 12: 88,407,887 (GRCm39) D206V possibly damaging Het
Ank2 T A 3: 126,797,655 (GRCm39) D685V probably damaging Het
Baz2b A G 2: 59,809,019 (GRCm39) S77P probably benign Het
Ccdc194 T C 8: 71,978,109 (GRCm39) N83D probably benign Het
Ceacam5 A T 7: 17,448,810 (GRCm39) T59S probably benign Het
Cemip2 G A 19: 21,822,186 (GRCm39) G1194S probably benign Het
Ces1e A C 8: 93,944,163 (GRCm39) F218L probably damaging Het
Cilk1 T C 9: 78,071,921 (GRCm39) V531A probably benign Het
Cps1 TGTCCATTGGTC TGTC 1: 67,201,774 (GRCm39) probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Eftud2 A T 11: 102,730,883 (GRCm39) V843E probably damaging Het
Fuca2 G T 10: 13,381,783 (GRCm39) W232L probably damaging Het
Gdf7 T C 12: 8,348,832 (GRCm39) D155G unknown Het
Ggcx G T 6: 72,407,122 (GRCm39) V753F possibly damaging Het
Ghrhr A T 6: 55,356,173 (GRCm39) T89S probably benign Het
Gpr151 T C 18: 42,711,619 (GRCm39) K353R probably benign Het
Gpr75 T C 11: 30,841,527 (GRCm39) L144P probably damaging Het
Gsdmc2 A G 15: 63,696,962 (GRCm39) I403T probably benign Het
H2-M1 A G 17: 36,982,059 (GRCm39) S181P probably benign Het
Igsf5 C T 16: 96,222,939 (GRCm39) S61L possibly damaging Het
Insc A T 7: 114,390,401 (GRCm39) probably null Het
Izumo4 G A 10: 80,538,707 (GRCm39) G53D probably damaging Het
Ksr1 G A 11: 78,911,267 (GRCm39) P693S possibly damaging Het
Lgals4 G A 7: 28,535,317 (GRCm39) R27H probably damaging Het
Lpcat2b A G 5: 107,581,171 (GRCm39) R167G probably benign Het
Map2 T G 1: 66,464,637 (GRCm39) S1676A probably damaging Het
Mbl1 G T 14: 40,875,572 (GRCm39) V9F unknown Het
Mrgprb8 T A 7: 48,039,051 (GRCm39) C241S probably benign Het
Mrpl2 T C 17: 46,960,012 (GRCm39) L227P probably damaging Het
Mthfd1 T A 12: 76,335,685 (GRCm39) V253E probably damaging Het
Mthfd1 A G 12: 76,350,454 (GRCm39) H464R probably damaging Het
Mug2 T A 6: 122,024,398 (GRCm39) M490K probably benign Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Notch1 A G 2: 26,359,911 (GRCm39) V1268A probably damaging Het
Or6b2b A T 1: 92,419,264 (GRCm39) I71N possibly damaging Het
Or8b12c C A 9: 37,716,177 (GRCm39) probably null Het
Pgm1 A T 4: 99,836,151 (GRCm39) I412F probably damaging Het
Plaur A T 7: 24,164,628 (GRCm39) Q44L possibly damaging Het
Ppara T C 15: 85,671,434 (GRCm39) Y112H probably damaging Het
Ppm1h G A 10: 122,756,644 (GRCm39) V430M probably damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Prph A G 15: 98,954,713 (GRCm39) T35A probably benign Het
Prrc2c C T 1: 162,510,085 (GRCm39) G780S probably damaging Het
Ptchd3 T A 11: 121,721,908 (GRCm39) N260K probably benign Het
Ptprz1 A G 6: 23,002,470 (GRCm39) D1520G probably benign Het
Samd9l T A 6: 3,376,686 (GRCm39) I192L probably benign Het
Slc39a10 T C 1: 46,874,993 (GRCm39) D103G probably damaging Het
Smndc1 G A 19: 53,372,063 (GRCm39) T117M probably benign Het
Tesk2 A G 4: 116,649,367 (GRCm39) D159G probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn2r108 A T 17: 20,682,644 (GRCm39) N853K probably benign Het
Wdfy3 C T 5: 102,020,831 (GRCm39) R2491Q possibly 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
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
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
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'- TGACAATAGGAGCTGTCGGACTC -3'
(R):5'- TGTCTTGCCTATAGGTGCCC -3'

Sequencing Primer
(F):5'- CATTGGATTGGCACACATTTTGAG -3'
(R):5'- CCTGGGCAAGCACACAG -3'
Posted On 2018-02-27