Incidental Mutation 'IGL00655:Nxph2'
ID12818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxph2
Ensembl Gene ENSMUSG00000069132
Gene Nameneurexophilin 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL00655
Quality Score
Status
Chromosome2
Chromosomal Location23321246-23401973 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23400141 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 168 (I168M)
Ref Sequence ENSEMBL: ENSMUSP00000100009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102945]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102945
AA Change: I168M

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000100009
Gene: ENSMUSG00000069132
AA Change: I168M

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Neurexophilin 50 261 7.9e-99 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 G A 4: 49,383,250 P101L probably damaging Het
Akap13 A G 7: 75,704,398 K1756E probably damaging Het
Anp32a T A 9: 62,371,712 probably benign Het
Cenpe T C 3: 135,231,455 probably null Het
Fam114a2 T A 11: 57,487,587 I451F probably damaging Het
Fbxw22 T C 9: 109,382,244 probably benign Het
Fndc3b C T 3: 27,538,012 G246R probably benign Het
Gcc1 C T 6: 28,421,198 R40H possibly damaging Het
Lig4 A T 8: 9,973,305 N158K probably benign Het
Ropn1 G T 16: 34,678,420 G193C probably damaging Het
Tnni3k T A 3: 155,054,555 I48F probably benign Het
Tuft1 T A 3: 94,622,784 E184D possibly damaging Het
Usp24 A G 4: 106,390,318 T1414A probably damaging Het
Other mutations in Nxph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Nxph2 APN 2 23400322 missense probably damaging 1.00
IGL00861:Nxph2 APN 2 23399962 missense probably damaging 1.00
IGL01358:Nxph2 APN 2 23400074 missense probably damaging 1.00
IGL01733:Nxph2 APN 2 23400125 missense probably benign 0.00
IGL01983:Nxph2 APN 2 23399934 missense probably benign 0.32
IGL02739:Nxph2 APN 2 23399900 missense probably benign 0.06
IGL02983:Nxph2 APN 2 23400362 missense probably damaging 1.00
IGL03013:Nxph2 APN 2 23399933 missense probably benign 0.08
R4392:Nxph2 UTSW 2 23400272 missense probably damaging 0.99
R4796:Nxph2 UTSW 2 23399858 missense probably benign 0.00
R4877:Nxph2 UTSW 2 23399834 missense probably benign 0.00
R5038:Nxph2 UTSW 2 23321544 splice site probably null
R8057:Nxph2 UTSW 2 23400095 missense possibly damaging 0.89
RF004:Nxph2 UTSW 2 23400068 missense probably damaging 1.00
Z1088:Nxph2 UTSW 2 23400217 missense probably benign 0.10
Posted On2012-12-06