Incidental Mutation 'IGL02372:Arc'
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ID290956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arc
Ensembl Gene ENSMUSG00000022602
Gene Nameactivity regulated cytoskeletal-associated protein
SynonymsArc3.1, arg 3.1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02372
Quality Score
Status
Chromosome15
Chromosomal Location74669083-74672570 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74672105 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 90 (S90P)
Ref Sequence ENSEMBL: ENSMUSP00000105636 (fasta)
Predicted Effect probably damaging
Transcript: ENSMUST00000023268
AA Change: S90P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000110009
AA Change: S90P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous deletion of this gene results in embryonic lethality around E6.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001P01Rik A T 11: 97,775,699 Y54N probably damaging Het
Alyref A G 11: 120,594,875 probably benign Het
Ankrd27 A G 7: 35,633,036 probably null Het
Atp6v1e1 T A 6: 120,801,123 K150N probably benign Het
Atrn T C 2: 131,002,754 probably benign Het
Ccnb1 A G 13: 100,781,316 Y259H probably damaging Het
Celsr1 A G 15: 85,929,907 V1938A probably benign Het
Ckmt2 A G 13: 91,865,224 V37A probably benign Het
Dpys G T 15: 39,793,271 P467T probably benign Het
Ehbp1l1 T C 19: 5,710,834 T1535A possibly damaging Het
Eif4enif1 T C 11: 3,229,986 L302P probably benign Het
Faf1 T G 4: 109,935,582 F584V probably benign Het
Glb1l2 G A 9: 26,796,476 R72C probably damaging Het
Gm9892 T C 8: 52,196,836 noncoding transcript Het
Hecw1 G T 13: 14,264,121 D892E probably damaging Het
Hr A G 14: 70,558,350 E474G possibly damaging Het
Ltbp1 T G 17: 75,252,406 F297V probably damaging Het
Myc A G 15: 61,987,858 N127D probably damaging Het
Nbn T A 4: 15,986,613 N671K probably benign Het
Nup210l C A 3: 90,201,971 T1607N possibly damaging Het
Olfr281 A T 15: 98,456,828 T173S probably damaging Het
Osbpl1a T A 18: 12,841,313 K22* probably null Het
Phf20l1 T C 15: 66,641,801 L942P probably damaging Het
Plekhg5 C T 4: 152,102,080 R40W probably damaging Het
Pomt2 C T 12: 87,122,835 probably benign Het
Rab3gap1 A G 1: 127,919,561 probably benign Het
Sbk1 T C 7: 126,291,058 L81P probably damaging Het
Scrib G A 15: 76,048,255 P1524S probably damaging Het
Smpdl3a T A 10: 57,807,515 N240K probably benign Het
Smyd4 A T 11: 75,390,285 K195* probably null Het
Tulp3 A T 6: 128,327,598 M231K possibly damaging Het
Zfp87 A G 13: 67,520,620 probably benign Het
Other mutations in Arc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01778:Arc APN 15 74672355 missense probably benign
IGL03209:Arc APN 15 74671984 missense probably damaging 1.00
P0040:Arc UTSW 15 74671339 missense probably damaging 1.00
R0732:Arc UTSW 15 74671195 missense probably damaging 1.00
R1377:Arc UTSW 15 74672252 missense possibly damaging 0.51
R2430:Arc UTSW 15 74671891 missense probably benign 0.01
R4647:Arc UTSW 15 74671525 missense probably damaging 1.00
R4855:Arc UTSW 15 74671743 missense probably benign 0.01
R6436:Arc UTSW 15 74672249 missense possibly damaging 0.47
R6743:Arc UTSW 15 74671787 missense probably benign
R8678:Arc UTSW 15 74671690 missense probably damaging 1.00
RF003:Arc UTSW 15 74672131 missense probably benign 0.00
Posted On2015-04-16