Incidental Mutation 'IGL00578:Nxph2'
ID7268
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 #IGL00578
Quality Score
Status
Chromosome2
Chromosomal Location23321246-23401973 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23400322 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 229 (C229S)
Ref Sequence ENSEMBL: ENSMUSP00000100009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102945]
Predicted Effect probably damaging
Transcript: ENSMUST00000102945
AA Change: C229S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100009
Gene: ENSMUSG00000069132
AA Change: C229S

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,871,787 T729A possibly damaging Het
Ank3 C A 10: 70,002,394 S864Y possibly damaging Het
Ankrd44 G A 1: 54,662,647 probably benign Het
Atp11c C T X: 60,240,817 G996R probably damaging Het
AW549877 C A 15: 3,988,636 G186C probably damaging Het
Col11a1 A G 3: 114,194,106 T250A possibly damaging Het
Cox8a T A 19: 7,215,405 Y65F probably damaging Het
Ctnnd1 G T 2: 84,609,625 N451K probably damaging Het
D630045J12Rik T C 6: 38,194,930 T768A probably benign Het
Esyt1 A G 10: 128,511,743 S999P probably damaging Het
Fyco1 A G 9: 123,838,897 I88T probably damaging Het
Kdm2b A G 5: 122,961,567 V103A probably damaging Het
Klk1b26 T C 7: 44,016,885 S251P probably benign Het
Krtap16-1 A G 11: 99,985,295 S428P probably benign Het
Lrp1b C T 2: 40,679,173 V210I unknown Het
Mapk8ip3 A T 17: 24,900,819 D1018E probably damaging Het
Prickle1 A G 15: 93,500,781 L722P probably benign Het
Rbm12 A T 2: 156,096,041 probably benign Het
Sfpq T C 4: 127,025,907 Y482H probably damaging Het
Sycp2 T C 2: 178,350,822 probably benign Het
Unc5b A G 10: 60,767,055 I866T probably damaging Het
Other mutations in Nxph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Nxph2 APN 2 23400141 missense possibly damaging 0.53
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 On2012-04-20