Incidental Mutation 'IGL01098:Man2b2'
ID51101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Man2b2
Ensembl Gene ENSMUSG00000029119
Gene Namemannosidase 2, alpha B2
Synonyms135 kDa alpha-D-mannosidase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01098
Quality Score
Status
Chromosome5
Chromosomal Location36806921-36830653 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36815556 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 538 (L538Q)
Ref Sequence ENSEMBL: ENSMUSP00000031002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031002]
Predicted Effect probably damaging
Transcript: ENSMUST00000031002
AA Change: L538Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031002
Gene: ENSMUSG00000029119
AA Change: L538Q

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Glyco_hydro_38 28 351 4e-100 PFAM
Alpha-mann_mid 356 439 3.3e-20 SMART
Pfam:Glyco_hydro_38C 487 1013 2e-98 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000124711
AA Change: L117Q
SMART Domains Protein: ENSMUSP00000115495
Gene: ENSMUSG00000029119
AA Change: L117Q

DomainStartEndE-ValueType
Pfam:Glyco_hydro_38C 67 469 2.5e-80 PFAM
low complexity region 483 493 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147893
SMART Domains Protein: ENSMUSP00000114319
Gene: ENSMUSG00000029119

DomainStartEndE-ValueType
Pfam:Glyco_hydro_38C 2 86 4.2e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,473,533 D75G possibly damaging Het
Brip1 G T 11: 86,108,862 R765S possibly damaging Het
Btbd16 T C 7: 130,823,245 I452T probably damaging Het
Cdc42ep4 T G 11: 113,729,502 D21A probably damaging Het
Cdx2 T A 5: 147,306,982 M1L possibly damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Csmd2 C T 4: 128,059,052 T98M probably damaging Het
Cyp26a1 A T 19: 37,700,002 Q324L probably benign Het
Etaa1 A G 11: 17,946,059 V686A probably damaging Het
Gpr6 G A 10: 41,070,743 T281I probably damaging Het
Herc1 T A 9: 66,461,922 probably null Het
Lama2 A T 10: 27,031,112 I2351N possibly damaging Het
Lman1 A G 18: 65,991,640 F343L probably damaging Het
Lmo1 A G 7: 109,143,450 probably benign Het
Lrrc17 T A 5: 21,575,271 F414L probably benign Het
Map3k9 A G 12: 81,724,154 S910P probably damaging Het
Mapk1ip1 G A 7: 138,836,462 P80S probably damaging Het
Mindy4 G T 6: 55,284,742 probably benign Het
Msh4 A T 3: 153,877,982 probably benign Het
Mta2 A G 19: 8,946,717 D187G probably damaging Het
Olfml2a A G 2: 38,947,214 probably null Het
Pink1 A T 4: 138,320,097 probably null Het
Plekha6 T C 1: 133,282,165 F575L possibly damaging Het
Rpe C A 1: 66,706,515 D71E probably benign Het
Slc5a7 C T 17: 54,292,960 A142T probably benign Het
Sptbn1 C T 11: 30,159,385 R70K probably damaging Het
Taf1c G T 8: 119,602,841 Q159K probably damaging Het
Tgfb1i1 T C 7: 128,252,521 F311S probably damaging Het
Tmc8 T C 11: 117,792,563 V648A possibly damaging Het
Tmed8 G T 12: 87,176,671 A98E probably benign Het
Tmem200a A G 10: 25,994,143 I76T probably damaging Het
Vmn2r104 T C 17: 20,048,096 E37G probably benign Het
Vmn2r18 A T 5: 151,572,831 V474E probably damaging Het
Vps52 C T 17: 33,962,730 T510I possibly damaging Het
Wwox G T 8: 114,445,378 G71* probably null Het
Zer1 C T 2: 30,108,220 probably null Het
Zfp296 A T 7: 19,577,920 K117N possibly damaging Het
Other mutations in Man2b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Man2b2 APN 5 36816143 nonsense probably null
IGL01367:Man2b2 APN 5 36814337 nonsense probably null
IGL01781:Man2b2 APN 5 36813745 missense possibly damaging 0.80
IGL01809:Man2b2 APN 5 36814516 missense probably benign 0.01
IGL02824:Man2b2 APN 5 36821851 missense probably benign 0.09
IGL03323:Man2b2 APN 5 36818514 missense probably benign 0.07
IGL03333:Man2b2 APN 5 36816139 missense probably damaging 0.96
R0505:Man2b2 UTSW 5 36816198 missense probably benign 0.00
R0715:Man2b2 UTSW 5 36826058 missense probably benign 0.00
R1435:Man2b2 UTSW 5 36813067 missense probably damaging 0.98
R1536:Man2b2 UTSW 5 36820927 missense probably benign 0.10
R1944:Man2b2 UTSW 5 36816180 missense probably benign
R2079:Man2b2 UTSW 5 36814372 missense possibly damaging 0.64
R2475:Man2b2 UTSW 5 36807875 missense probably benign 0.01
R2924:Man2b2 UTSW 5 36824102 missense probably benign 0.01
R2925:Man2b2 UTSW 5 36824102 missense probably benign 0.01
R2938:Man2b2 UTSW 5 36820986 missense probably benign 0.27
R3777:Man2b2 UTSW 5 36815527 missense probably benign 0.00
R3778:Man2b2 UTSW 5 36815527 missense probably benign 0.00
R3982:Man2b2 UTSW 5 36813820 missense probably benign 0.10
R4618:Man2b2 UTSW 5 36817639 missense probably benign 0.06
R4822:Man2b2 UTSW 5 36815521 missense probably damaging 1.00
R5320:Man2b2 UTSW 5 36810333 missense probably damaging 1.00
R5394:Man2b2 UTSW 5 36814518 missense probably benign 0.03
R5468:Man2b2 UTSW 5 36807175 missense probably benign 0.00
R5993:Man2b2 UTSW 5 36820980 missense probably benign 0.12
R6053:Man2b2 UTSW 5 36813038 missense probably benign 0.00
R6083:Man2b2 UTSW 5 36809041 missense probably damaging 1.00
R6376:Man2b2 UTSW 5 36821034 missense probably damaging 1.00
R6669:Man2b2 UTSW 5 36810358 missense probably benign 0.00
R7000:Man2b2 UTSW 5 36821869 missense probably damaging 1.00
R7108:Man2b2 UTSW 5 36815485 missense probably benign 0.04
R7376:Man2b2 UTSW 5 36813378 missense probably damaging 1.00
R7478:Man2b2 UTSW 5 36810313 missense probably damaging 1.00
R7712:Man2b2 UTSW 5 36810314 missense probably benign 0.00
R8059:Man2b2 UTSW 5 36816160 missense probably damaging 1.00
X0022:Man2b2 UTSW 5 36813892 missense probably damaging 0.99
Z1088:Man2b2 UTSW 5 36815356 missense possibly damaging 0.46
Z1177:Man2b2 UTSW 5 36813797 missense probably damaging 1.00
Posted On2013-06-21