Incidental Mutation 'IGL02119:Maneal'
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ID280507
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 #IGL02119
Quality Score
Status
Chromosome4
Chromosomal Location124855239-124862171 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 124859167 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 229 (I229N)
Ref Sequence ENSEMBL: ENSMUSP00000066000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064444] [ENSMUST00000102628] [ENSMUST00000144851]
Predicted Effect probably benign
Transcript: ENSMUST00000064444
AA Change: I229N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000066000
Gene: ENSMUSG00000042763
AA Change: I229N

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,328,000 probably null Het
Acsbg2 T C 17: 56,868,459 probably benign Het
Ap3b1 T C 13: 94,462,403 V495A probably benign Het
Astn1 T C 1: 158,511,154 probably benign Het
Bora A G 14: 99,053,538 D94G probably damaging Het
Bpifb9b G T 2: 154,313,624 V348L possibly damaging Het
Cd160 A T 3: 96,808,823 I17N possibly damaging Het
Cyp2d11 A C 15: 82,390,064 I372S probably damaging Het
Dennd2c T A 3: 103,137,243 V380D probably damaging Het
Fat4 C T 3: 38,982,939 A3580V probably benign Het
Filip1 A G 9: 79,818,266 S1024P probably benign Het
Flnc G A 6: 29,447,512 E1105K probably damaging Het
Gbp4 T A 5: 105,121,042 E415V probably benign Het
Gdap1l1 T A 2: 163,453,668 F224Y probably damaging Het
Gm11146 A T 16: 77,588,610 probably null Het
Gsn G T 2: 35,302,495 R485L probably damaging Het
Havcr1 A G 11: 46,775,493 Y261C probably damaging Het
Med24 A T 11: 98,728,835 M27K probably benign Het
Nipsnap2 T A 5: 129,747,992 probably benign Het
Noa1 T A 5: 77,307,579 Q430L probably benign Het
Olfr1099 T C 2: 86,959,183 I92V probably benign Het
Olfr365 C A 2: 37,201,269 S9R possibly damaging Het
Olfr74 T A 2: 87,974,410 N85I probably benign Het
Olfr834 T C 9: 18,988,612 V208A probably benign Het
Pde3a T A 6: 141,459,803 S460R probably damaging Het
Pdzd8 T C 19: 59,300,490 Q826R possibly damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Pikfyve T A 1: 65,272,571 I1989N probably damaging Het
Poldip2 T A 11: 78,517,908 F200I probably damaging Het
Prodh2 T C 7: 30,506,504 V208A probably damaging Het
Ranbp10 T C 8: 105,827,003 D89G probably damaging Het
Rbm33 T A 5: 28,339,017 S90R probably damaging Het
Slc44a4 A C 17: 34,928,661 D441A probably damaging Het
Slc4a10 A T 2: 62,228,670 I174F probably damaging Het
Smim17 T C 7: 6,427,161 probably benign Het
Tln1 T C 4: 43,546,760 E872G probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Top2b T C 14: 16,406,733 L625S probably damaging Het
Vmn2r59 A G 7: 42,046,169 V273A probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Whrn T G 4: 63,435,487 K348Q probably damaging Het
Zc3h14 T C 12: 98,763,895 V399A probably benign Het
Other mutations in Maneal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Maneal APN 4 124859155 missense probably benign 0.00
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
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