Incidental Mutation 'IGL00861:Nxph2'
ID12817
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 #IGL00861
Quality Score
Status
Chromosome2
Chromosomal Location23321246-23401973 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23399962 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 109 (F109I)
Ref Sequence ENSEMBL: ENSMUSP00000100009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102945]
Predicted Effect probably damaging
Transcript: ENSMUST00000102945
AA Change: F109I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100009
Gene: ENSMUSG00000069132
AA Change: F109I

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 G A 15: 89,323,285 probably benign Het
Ambra1 T A 2: 91,770,926 D189E possibly damaging Het
Atg16l1 G A 1: 87,774,838 G274S probably damaging Het
Cdh7 C A 1: 110,060,988 probably benign Het
Chat T C 14: 32,449,023 Y173C probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Ctnnd1 T C 2: 84,603,752 D874G probably damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Depdc5 T C 5: 32,967,814 probably null Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fut10 G T 8: 31,235,705 V163F probably damaging Het
Glmn A T 5: 107,570,139 M304K possibly damaging Het
Klra6 A G 6: 130,023,700 V47A possibly damaging Het
Lgi2 T C 5: 52,538,121 K491E probably benign Het
Lrrc72 T A 12: 36,221,508 Q138L probably benign Het
Oosp3 A G 19: 11,711,640 D84G probably benign Het
Pdzd3 A G 9: 44,249,636 L211P possibly damaging Het
Poc1b C T 10: 99,129,652 R106C probably benign Het
Ptk2 A G 15: 73,262,547 S568P probably damaging Het
Slc4a5 A G 6: 83,299,471 I1093V probably benign Het
Snx2 G A 18: 53,210,797 probably null Het
Washc5 G T 15: 59,337,276 T1033K probably damaging Het
Other mutations in Nxph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Nxph2 APN 2 23400322 missense probably damaging 1.00
IGL00655:Nxph2 APN 2 23400141 missense possibly damaging 0.53
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