Incidental Mutation 'IGL02450:Maneal'
ID 294135
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Maneal
Ensembl Gene ENSMUSG00000042763
Gene Name mannosidase, endo-alpha-like
Synonyms LOC215090
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02450
Quality Score
Status
Chromosome 4
Chromosomal Location 124749032-124755964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 124750928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 276 (A276V)
Ref Sequence ENSEMBL: ENSMUSP00000066000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064444] [ENSMUST00000102628] [ENSMUST00000144851]
AlphaFold Q6P1J0
Predicted Effect probably benign
Transcript: ENSMUST00000064444
AA Change: A276V

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000066000
Gene: ENSMUSG00000042763
AA Change: A276V

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,798,963 (GRCm39) *781W probably null Het
Adamts16 C A 13: 70,984,419 (GRCm39) R81S probably damaging Het
Aldh1l1 A G 6: 90,546,855 (GRCm39) D386G probably benign Het
Anxa6 G A 11: 54,885,767 (GRCm39) R393W probably damaging Het
Bdnf G A 2: 109,553,949 (GRCm39) V108I possibly damaging Het
Bpgm C T 6: 34,464,399 (GRCm39) R39W probably damaging Het
Cd101 T C 3: 100,901,054 (GRCm39) E1006G probably damaging Het
Cd109 A T 9: 78,603,132 (GRCm39) E972V possibly damaging Het
Cdhr3 T A 12: 33,132,224 (GRCm39) Q133L probably benign Het
Cdk5r1 C T 11: 80,368,666 (GRCm39) A111V probably benign Het
Cnga4 A T 7: 105,054,955 (GRCm39) I77F probably damaging Het
Egfem1 G A 3: 29,711,417 (GRCm39) probably null Het
Fbxl21 T A 13: 56,674,766 (GRCm39) V39D possibly damaging Het
Gimap6 T C 6: 48,681,351 (GRCm39) I94M probably benign Het
Glis1 T C 4: 107,484,726 (GRCm39) V407A probably benign Het
Gm5784 C T 12: 19,437,970 (GRCm39) noncoding transcript Het
Gm9839 A T 1: 32,559,964 (GRCm39) probably benign Het
Heatr5a T A 12: 51,992,213 (GRCm39) M566L probably benign Het
Jph1 G A 1: 17,074,201 (GRCm39) P606S possibly damaging Het
Jup C T 11: 100,269,183 (GRCm39) C410Y probably damaging Het
Kif23 A G 9: 61,831,239 (GRCm39) M777T probably benign Het
Lifr G T 15: 7,220,246 (GRCm39) D959Y probably damaging Het
Lsm1 C A 8: 26,283,806 (GRCm39) L73I possibly damaging Het
Myh4 A G 11: 67,142,635 (GRCm39) D932G probably damaging Het
Nipbl C T 15: 8,373,058 (GRCm39) V1063M probably damaging Het
Nlrx1 A G 9: 44,164,798 (GRCm39) V882A probably benign Het
Obox6 A G 7: 15,567,638 (GRCm39) C270R probably damaging Het
Or13a19 A G 7: 139,903,140 (GRCm39) H176R possibly damaging Het
Pard3b A G 1: 62,571,835 (GRCm39) I925V possibly damaging Het
Pdhx A G 2: 102,872,594 (GRCm39) S163P probably benign Het
Pdzrn3 T C 6: 101,331,461 (GRCm39) D271G probably damaging Het
Plec A G 15: 76,075,515 (GRCm39) I399T probably damaging Het
Pthlh T G 6: 147,158,666 (GRCm39) D98A possibly damaging Het
Spata31f3 A G 4: 42,874,127 (GRCm39) S14P probably benign Het
Spock3 T A 8: 63,698,249 (GRCm39) probably null Het
Tgtp2 C T 11: 48,950,317 (GRCm39) G85D probably benign Het
Tmem94 A G 11: 115,683,897 (GRCm39) D739G probably damaging Het
Washc5 G A 15: 59,204,166 (GRCm39) R706* probably null Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zscan20 G T 4: 128,480,450 (GRCm39) D680E probably damaging Het
Other mutations in Maneal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Maneal APN 4 124,752,948 (GRCm39) missense probably benign 0.00
IGL02119:Maneal APN 4 124,752,960 (GRCm39) missense probably benign 0.01
IGL02183:Maneal APN 4 124,754,209 (GRCm39) missense probably benign 0.25
IGL02338:Maneal APN 4 124,754,276 (GRCm39) splice site probably benign
IGL02485:Maneal APN 4 124,750,563 (GRCm39) missense probably damaging 1.00
BB009:Maneal UTSW 4 124,755,638 (GRCm39) missense probably damaging 1.00
BB019:Maneal UTSW 4 124,755,638 (GRCm39) missense probably damaging 1.00
R1481:Maneal UTSW 4 124,755,650 (GRCm39) missense probably damaging 0.99
R5568:Maneal UTSW 4 124,750,937 (GRCm39) missense possibly damaging 0.96
R5909:Maneal UTSW 4 124,750,966 (GRCm39) nonsense probably null
R6459:Maneal UTSW 4 124,750,635 (GRCm39) missense possibly damaging 0.72
R6493:Maneal UTSW 4 124,750,964 (GRCm39) missense probably damaging 1.00
R7121:Maneal UTSW 4 124,750,905 (GRCm39) missense probably benign 0.00
R7199:Maneal UTSW 4 124,750,983 (GRCm39) missense possibly damaging 0.62
R7329:Maneal UTSW 4 124,750,512 (GRCm39) missense probably benign 0.04
R7406:Maneal UTSW 4 124,754,161 (GRCm39) missense possibly damaging 0.93
R7456:Maneal UTSW 4 124,750,767 (GRCm39) missense probably damaging 1.00
R7932:Maneal UTSW 4 124,755,638 (GRCm39) missense probably damaging 1.00
R8795:Maneal UTSW 4 124,750,483 (GRCm39) nonsense probably null
R9151:Maneal UTSW 4 124,755,542 (GRCm39) missense probably benign 0.25
Posted On 2015-04-16