Incidental Mutation 'IGL02485:Maneal'
ID295400
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 #IGL02485
Quality Score
Status
Chromosome4
Chromosomal Location124855239-124862171 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 124856770 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 398 (S398T)
Ref Sequence ENSEMBL: ENSMUSP00000066000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064444] [ENSMUST00000102628] [ENSMUST00000144851]
Predicted Effect probably damaging
Transcript: ENSMUST00000064444
AA Change: S398T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066000
Gene: ENSMUSG00000042763
AA Change: S398T

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
Predicted Effect probably benign
Transcript: ENSMUST00000102628
SMART Domains Protein: ENSMUSP00000099688
Gene: ENSMUSG00000028889

DomainStartEndE-ValueType
low complexity region 32 63 N/A INTRINSIC
Pfam:Sua5_yciO_yrdC 76 256 1.3e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144851
SMART Domains Protein: ENSMUSP00000114150
Gene: ENSMUSG00000028889

DomainStartEndE-ValueType
Pfam:Sua5_yciO_yrdC 1 103 2.5e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173434
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,228,325 V94E probably damaging Het
Agl A G 3: 116,779,080 S841P probably benign Het
BC003331 A G 1: 150,363,489 probably null Het
Cd59b A C 2: 104,081,104 probably benign Het
Dopey2 T C 16: 93,770,822 L1379P probably damaging Het
Ercc2 G A 7: 19,394,045 A433T possibly damaging Het
Gm17175 T C 14: 51,569,611 probably benign Het
Gm5150 A T 3: 15,990,752 I103N probably damaging Het
Igf1 A G 10: 87,864,746 M11V probably benign Het
Incenp T C 19: 9,893,368 N299S unknown Het
Map1a A G 2: 121,299,288 N195S probably damaging Het
Mars2 T C 1: 55,237,591 F118L possibly damaging Het
Mast4 A G 13: 102,735,496 S2263P probably benign Het
Mrgprb1 C A 7: 48,447,717 R149L possibly damaging Het
Myo1d T C 11: 80,666,581 D511G probably damaging Het
Ntan1 T C 16: 13,834,676 probably benign Het
Nxf2 A G X: 134,956,467 F158L probably damaging Het
Olfr1513 T A 14: 52,350,044 M1L possibly damaging Het
Trpm1 C T 7: 64,269,114 A734V possibly damaging Het
Upf2 G A 2: 6,027,291 E883K unknown Het
Ush1c T C 7: 46,229,250 I83V probably damaging Het
Vmn2r60 C A 7: 42,195,466 T751N possibly damaging Het
Zfp146 A G 7: 30,162,590 I9T probably benign Het
Zfp592 G A 7: 81,037,970 probably benign Het
Zswim8 C T 14: 20,711,887 L243F probably 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
IGL02183:Maneal APN 4 124860416 missense probably benign 0.25
IGL02338:Maneal APN 4 124860483 splice site probably benign
IGL02450:Maneal APN 4 124857135 missense probably benign 0.37
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
R8795:Maneal UTSW 4 124856690 nonsense probably null
Posted On2015-04-16