Incidental Mutation 'IGL00427:Arpin'
ID6285
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arpin
Ensembl Gene ENSMUSG00000039043
Gene Nameactin-related protein 2/3 complex inhibitor
Synonyms2610034B18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00427
Quality Score
Status
Chromosome7
Chromosomal Location79925361-79935359 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 79927675 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 208 (N208I)
Ref Sequence ENSEMBL: ENSMUSP00000049440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048731]
Predicted Effect probably benign
Transcript: ENSMUST00000048731
AA Change: N208I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049440
Gene: ENSMUSG00000039043
AA Change: N208I

DomainStartEndE-ValueType
Pfam:UPF0552 1 224 4e-110 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206403
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A G 12: 4,194,357 D289G probably damaging Het
Adnp C T 2: 168,182,562 D938N probably benign Het
Cby3 A G 11: 50,357,811 probably benign Het
Cnih4 T A 1: 181,153,747 S28T probably damaging Het
D130052B06Rik G T 11: 33,623,558 V97L possibly damaging Het
Dchs1 T C 7: 105,758,424 E2067G probably damaging Het
Dennd6a C T 14: 26,608,613 T113I probably damaging Het
Dock4 T A 12: 40,832,306 F1590L possibly damaging Het
Dopey1 G T 9: 86,521,500 Q1582H probably benign Het
Dopey1 C A 9: 86,521,498 Q1582K possibly damaging Het
Dopey1 A T 9: 86,521,499 Q1582L probably damaging Het
Ebna1bp2 A T 4: 118,625,821 K291M probably damaging Het
Evpl G T 11: 116,234,505 Q73K probably benign Het
Fam131b G T 6: 42,318,961 T139K probably damaging Het
Gm10704 A C 3: 88,576,923 probably benign Het
Golga3 A G 5: 110,220,887 T1358A probably damaging Het
Gpr1 A T 1: 63,183,338 I246N probably damaging Het
Hgf G A 5: 16,578,486 D265N probably benign Het
Homer1 A G 13: 93,402,114 N333S probably benign Het
Igkv17-134 A T 6: 67,720,984 probably benign Het
Il16 T C 7: 83,652,458 D152G probably benign Het
Ireb2 T C 9: 54,899,482 probably benign Het
Itgb2 C T 10: 77,557,956 T410I probably benign Het
Kctd14 C A 7: 97,457,712 A111E possibly damaging Het
Lmod3 A C 6: 97,252,297 V92G probably damaging Het
Lmtk2 A G 5: 144,134,155 D83G probably damaging Het
Myh1 A G 11: 67,220,865 E1682G probably damaging Het
Myo9a T A 9: 59,843,059 probably benign Het
Nlrc4 T C 17: 74,447,092 N99D probably benign Het
P2rx3 A G 2: 85,035,272 Y10H probably damaging Het
Pcsk7 C A 9: 45,927,660 D623E probably benign Het
Plxna1 A G 6: 89,320,998 I1766T probably damaging Het
Ptk7 T C 17: 46,574,427 Y691C probably damaging Het
Rec8 A T 14: 55,618,651 T17S probably damaging Het
Ryr1 T C 7: 29,104,737 probably benign Het
Scg3 T G 9: 75,663,237 K345T probably damaging Het
Serpina3b A T 12: 104,132,941 K238N probably benign Het
Slc38a9 T A 13: 112,701,618 S306T probably damaging Het
Txndc16 A G 14: 45,145,090 probably benign Het
Vmn1r238 T A 18: 3,123,243 Y57F probably benign Het
Vmn2r104 A T 17: 20,038,239 S548T probably damaging Het
Xrcc1 T A 7: 24,547,884 probably null Het
Other mutations in Arpin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Arpin APN 7 79931840 missense possibly damaging 0.51
IGL02127:Arpin APN 7 79928193 missense probably benign 0.01
IGL02553:Arpin APN 7 79927647 missense possibly damaging 0.71
R2350:Arpin UTSW 7 79931805 nonsense probably null
R3821:Arpin UTSW 7 79929660 missense probably damaging 1.00
R3924:Arpin UTSW 7 79929687 missense probably benign 0.02
R5287:Arpin UTSW 7 79928249 missense probably damaging 1.00
R6353:Arpin UTSW 7 79935345 start gained probably benign
R7871:Arpin UTSW 7 79927715 missense probably damaging 1.00
R8211:Arpin UTSW 7 79935244 start codon destroyed probably damaging 1.00
R8350:Arpin UTSW 7 79931867
R8367:Arpin UTSW 7 79929638 missense possibly damaging 0.95
Posted On2012-04-20