Incidental Mutation 'IGL02183:Maneal'
ID284322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Maneal
Ensembl Gene ENSMUSG00000042763
Gene Namemannosidase, endo-alpha-like
SynonymsLOC215090
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02183
Quality Score
Status
Chromosome4
Chromosomal Location124855239-124862171 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 124860416 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 198 (T198I)
Ref Sequence ENSEMBL: ENSMUSP00000066000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064444]
Predicted Effect probably benign
Transcript: ENSMUST00000064444
AA Change: T198I

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000066000
Gene: ENSMUSG00000042763
AA Change: T198I

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 31 46 N/A INTRINSIC
low complexity region 55 79 N/A INTRINSIC
Pfam:Glyco_hydro_99 95 445 8.7e-160 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik G A 1: 37,625,378 P480S possibly damaging Het
Ace2 T A X: 164,177,469 probably benign Het
Acsm4 A T 7: 119,693,852 probably null Het
Apcdd1 T C 18: 62,951,854 M374T probably damaging Het
Arid4b A G 13: 14,169,990 E551G possibly damaging Het
Bag4 A T 8: 25,768,030 L423Q probably damaging Het
Celf1 C T 2: 91,001,486 P96S probably damaging Het
Cry2 G A 2: 92,413,039 R486W probably damaging Het
Csn1s1 G A 5: 87,677,618 S228N possibly damaging Het
Ctnnd2 A G 15: 31,020,740 Y1124C probably damaging Het
Cyp2j7 T C 4: 96,230,147 probably benign Het
Dock7 A T 4: 98,958,991 C1695S possibly damaging Het
Elmo3 T C 8: 105,308,323 L415P probably benign Het
Entpd5 A G 12: 84,380,380 probably benign Het
Gm7534 A G 4: 134,201,980 L338S probably benign Het
Gpatch11 T C 17: 78,842,231 probably null Het
Gprin3 C A 6: 59,353,162 R720I possibly damaging Het
Gria4 T G 9: 4,502,460 T358P probably damaging Het
Hcn2 T C 10: 79,724,813 probably null Het
Hivep3 A G 4: 120,132,024 T1891A probably benign Het
Hmgcr A G 13: 96,663,127 V153A probably damaging Het
Ifnar1 T C 16: 91,505,146 V503A possibly damaging Het
Igf2r G A 17: 12,698,516 probably benign Het
Ighg2b A G 12: 113,307,829 S35P unknown Het
Jmy T C 13: 93,499,242 D22G possibly damaging Het
Kdm5b T C 1: 134,624,931 I1215T probably benign Het
Krt84 T C 15: 101,532,356 I134V unknown Het
Magi3 T A 3: 104,085,347 M270L probably benign Het
Map7d3 A G X: 56,822,231 probably benign Het
Myh7 T A 14: 54,974,731 T1519S probably benign Het
Myo5a T C 9: 75,167,236 probably benign Het
Naip5 T C 13: 100,221,642 S1029G probably benign Het
Olfr1162 T C 2: 88,049,989 T212A possibly damaging Het
Olfr1205 A T 2: 88,832,028 I304F probably benign Het
Olfr125 G T 17: 37,835,413 C138F probably damaging Het
Olfr1279 T A 2: 111,306,418 V71E probably damaging Het
Olfr178 T A 16: 58,889,821 Q133L probably benign Het
Pald1 A T 10: 61,347,141 probably benign Het
Pan2 T A 10: 128,309,075 H230Q possibly damaging Het
Pcdh9 T C 14: 93,886,284 I817V probably benign Het
Piezo2 A G 18: 63,020,634 S2547P probably benign Het
Ppargc1b T A 18: 61,309,096 probably null Het
Prdm6 T C 18: 53,464,677 probably benign Het
Prr5l A T 2: 101,772,120 probably benign Het
Rab3gap2 T A 1: 185,271,468 L1020* probably null Het
Rhbdf1 T C 11: 32,210,543 H669R probably damaging Het
Rnf150 A T 8: 83,003,605 I255F probably damaging Het
Rnf17 T A 14: 56,507,868 D1360E probably null Het
Sag T C 1: 87,828,475 probably null Het
Scn2a C T 2: 65,671,603 T90I probably benign Het
Scn9a T A 2: 66,484,611 probably benign Het
Serpinb13 T C 1: 106,998,910 M212T probably damaging Het
Slc39a14 C T 14: 70,306,685 G484E possibly damaging Het
Slco1a1 A T 6: 141,921,943 probably benign Het
Slitrk3 A T 3: 73,049,979 Y487N probably damaging Het
Stkld1 T C 2: 26,946,659 M279T probably benign Het
Tmem161b T C 13: 84,272,254 Y125H probably damaging Het
Tmem71 A G 15: 66,555,025 probably benign Het
Ubxn7 T C 16: 32,369,383 F142L probably damaging Het
Vmn2r22 A G 6: 123,638,004 L209P probably damaging Het
Wdr73 A T 7: 80,893,760 W136R probably damaging Het
Wif1 C T 10: 121,075,276 R107C probably damaging Het
Ythdf2 G T 4: 132,205,574 L92M probably benign Het
Zfp53 T A 17: 21,500,250 I34N possibly damaging Het
Other mutations in Maneal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Maneal APN 4 124859155 missense probably benign 0.00
IGL02119:Maneal APN 4 124859167 missense probably benign 0.01
IGL02338:Maneal APN 4 124860483 splice site probably benign
IGL02450:Maneal APN 4 124857135 missense probably benign 0.37
IGL02485:Maneal APN 4 124856770 missense probably damaging 1.00
BB009:Maneal UTSW 4 124861845 missense probably damaging 1.00
BB019:Maneal UTSW 4 124861845 missense probably damaging 1.00
R1481:Maneal UTSW 4 124861857 missense probably damaging 0.99
R5568:Maneal UTSW 4 124857144 missense possibly damaging 0.96
R5909:Maneal UTSW 4 124857173 nonsense probably null
R6459:Maneal UTSW 4 124856842 missense possibly damaging 0.72
R6493:Maneal UTSW 4 124857171 missense probably damaging 1.00
R7121:Maneal UTSW 4 124857112 missense probably benign 0.00
R7199:Maneal UTSW 4 124857190 missense possibly damaging 0.62
R7329:Maneal UTSW 4 124856719 missense probably benign 0.04
R7406:Maneal UTSW 4 124860368 missense possibly damaging 0.93
R7456:Maneal UTSW 4 124856974 missense probably damaging 1.00
R7932:Maneal UTSW 4 124861845 missense probably damaging 1.00
Posted On2015-04-16