Incidental Mutation 'IGL02411:Nxph3'
ID292303
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxph3
Ensembl Gene ENSMUSG00000046719
Gene Nameneurexophilin 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02411
Quality Score
Status
Chromosome11
Chromosomal Location95509845-95514570 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to T at 95510830 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Arginine at position 253 (*253R)
Ref Sequence ENSEMBL: ENSMUSP00000058254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058866]
Predicted Effect probably null
Transcript: ENSMUST00000058866
AA Change: *253R
SMART Domains Protein: ENSMUSP00000058254
Gene: ENSMUSG00000046719
AA Change: *253R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Neurexophilin 57 252 7.4e-100 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype Mice homozygous for a null allele display alterations in sensory information processing and motor coordination, as shown by increased startle response, reduced prepulse inhibition, and impaired rotarod performance.
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 63,898,116 E65G probably benign Het
Abcc8 G A 7: 46,107,007 R1425C probably damaging Het
Adcy3 A T 12: 4,209,407 N895Y probably damaging Het
AI661453 T G 17: 47,467,338 L663R unknown Het
Arhgef10 A T 8: 14,954,819 Y445F probably benign Het
Atrx G T X: 105,830,981 S1924R possibly damaging Het
Clca1 T C 3: 145,028,002 T58A possibly damaging Het
Clec1b A G 6: 129,401,841 Y129C probably damaging Het
Cobll1 A G 2: 65,097,740 S1080P probably damaging Het
Crb1 C A 1: 139,248,475 C590F probably damaging Het
Crim1 C T 17: 78,335,334 R494* probably null Het
Cyp3a25 A T 5: 146,001,447 Het
Dntt T A 19: 41,052,985 probably null Het
Gjb1 T C X: 101,385,005 C280R probably damaging Het
Glp1r T A 17: 30,924,511 C174S probably damaging Het
Gm5414 A T 15: 101,627,834 Y119N probably benign Het
Gm9631 G A 11: 121,943,652 probably null Het
Gm9796 G T 11: 95,697,930 noncoding transcript Het
Gm9956 T C 10: 56,745,292 F17L unknown Het
Il1rap A T 16: 26,710,616 D396V probably damaging Het
Impa1 T C 3: 10,322,958 K135E possibly damaging Het
Iqub G A 6: 24,449,811 A685V probably damaging Het
Jade3 T C X: 20,512,824 V512A probably benign Het
Kif3a C A 11: 53,570,698 P57T probably damaging Het
Kndc1 G T 7: 139,921,913 probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Maged2 G T X: 150,809,759 D343E probably benign Het
Magi2 T C 5: 19,678,709 S120P probably damaging Het
Oog2 A T 4: 144,195,048 H194L probably damaging Het
Pcbd2 T G 13: 55,732,951 W40G probably benign Het
Pcdhb14 T G 18: 37,449,770 L643R possibly damaging Het
Plch1 G T 3: 63,697,756 R1576S probably damaging Het
Poln G T 5: 34,113,322 S455* probably null Het
Ppp2r1a T C 17: 20,951,334 Het
Rsu1 T G 2: 13,077,497 Het
Serpina10 A T 12: 103,616,943 M360K possibly damaging Het
Sox30 A T 11: 45,981,124 K269* probably null Het
Thbs1 T C 2: 118,114,970 V310A probably benign Het
Tie1 C A 4: 118,486,563 E61* probably null Het
Tm2d1 G T 4: 98,380,674 P62Q probably damaging Het
Tpp1 G T 7: 105,749,619 P201Q probably damaging Het
Trim13 A G 14: 61,605,149 E205G probably damaging Het
Other mutations in Nxph3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Nxph3 APN 11 95511093 missense possibly damaging 0.93
IGL02666:Nxph3 APN 11 95511008 missense possibly damaging 0.93
R0281:Nxph3 UTSW 11 95511256 missense possibly damaging 0.95
R0827:Nxph3 UTSW 11 95511426 missense probably benign 0.01
R2226:Nxph3 UTSW 11 95514164 missense probably benign 0.11
R4829:Nxph3 UTSW 11 95511495 missense probably benign 0.17
R6470:Nxph3 UTSW 11 95511093 missense possibly damaging 0.93
Posted OnApr 16, 2015