Incidental Mutation 'IGL03209:Arc'
ID 413242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arc
Ensembl Gene ENSMUSG00000022602
Gene Name activity regulated cytoskeletal-associated protein
Synonyms arg 3.1, Arc3.1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03209
Quality Score
Status
Chromosome 15
Chromosomal Location 74540932-74544419 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74543833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 130 (L130Q)
Ref Sequence ENSEMBL: ENSMUSP00000105636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023268] [ENSMUST00000110009]
AlphaFold Q9WV31
Predicted Effect probably damaging
Transcript: ENSMUST00000023268
AA Change: L130Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000110009
AA Change: L130Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 C T 2: 26,882,973 (GRCm39) A841V probably benign Het
Alms1 A G 6: 85,576,955 (GRCm39) probably benign Het
Arhgap28 C T 17: 68,175,951 (GRCm39) V383I probably damaging Het
Atf6 T C 1: 170,662,463 (GRCm39) S266G probably benign Het
Cd59b A G 2: 103,914,905 (GRCm39) E101G probably benign Het
Cdc26 T C 4: 62,313,251 (GRCm39) K30R possibly damaging Het
Clns1a A G 7: 97,360,937 (GRCm39) D103G probably null Het
Crispld2 C A 8: 120,757,837 (GRCm39) A394E possibly damaging Het
Cyp51 A T 5: 4,154,195 (GRCm39) L38H probably damaging Het
Dnah7a T G 1: 53,725,773 (GRCm39) probably benign Het
Fbxw2 T C 2: 34,712,675 (GRCm39) R129G probably damaging Het
Fgd3 T C 13: 49,439,294 (GRCm39) Q234R probably damaging Het
Gdpgp1 A G 7: 79,888,847 (GRCm39) T293A probably damaging Het
Hspa12a T G 19: 58,810,493 (GRCm39) probably null Het
Ier5l G T 2: 30,363,067 (GRCm39) D319E possibly damaging Het
Iigp1c T A 18: 60,379,143 (GRCm39) I226N probably damaging Het
Ikzf1 T C 11: 11,650,226 (GRCm39) V3A probably benign Het
Itga2 T C 13: 115,017,168 (GRCm39) N180D probably damaging Het
Lipt1 T C 1: 37,914,150 (GRCm39) S69P probably damaging Het
Lvrn A G 18: 47,022,565 (GRCm39) I734V probably benign Het
Man2c1 A G 9: 57,049,114 (GRCm39) T871A probably benign Het
Ndufs1 A T 1: 63,203,896 (GRCm39) C129S probably damaging Het
Neb A T 2: 52,180,831 (GRCm39) F1232I probably damaging Het
Ngly1 T A 14: 16,281,831 (GRCm38) Y362* probably null Het
Or2h2c A T 17: 37,422,413 (GRCm39) S154T probably benign Het
Or5ak23 A T 2: 85,244,723 (GRCm39) S167T probably benign Het
Patj A G 4: 98,353,377 (GRCm39) D640G probably null Het
Plxnd1 A T 6: 115,939,318 (GRCm39) M1502K probably damaging Het
Sccpdh T C 1: 179,514,238 (GRCm39) V429A possibly damaging Het
Slc25a48 T C 13: 56,618,272 (GRCm39) V303A probably benign Het
Sult2a6 T C 7: 13,959,897 (GRCm39) D212G probably benign Het
Tep1 A T 14: 51,078,160 (GRCm39) probably benign Het
Tmem65 A G 15: 58,656,751 (GRCm39) probably benign Het
Togaram2 T C 17: 72,002,740 (GRCm39) probably null Het
Trim36 T C 18: 46,300,575 (GRCm39) T687A probably benign Het
Unc13b T A 4: 43,239,351 (GRCm39) D3471E probably damaging Het
Urgcp T C 11: 5,667,238 (GRCm39) probably null Het
Zfhx4 A T 3: 5,466,231 (GRCm39) I2155F probably damaging Het
Zfp831 T A 2: 174,487,059 (GRCm39) V578E probably benign Het
Other mutations in Arc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01778:Arc APN 15 74,544,204 (GRCm39) missense probably benign
IGL02372:Arc APN 15 74,543,954 (GRCm39) missense probably damaging 1.00
P0040:Arc UTSW 15 74,543,188 (GRCm39) missense probably damaging 1.00
R0732:Arc UTSW 15 74,543,044 (GRCm39) missense probably damaging 1.00
R1377:Arc UTSW 15 74,544,101 (GRCm39) missense possibly damaging 0.51
R2430:Arc UTSW 15 74,543,740 (GRCm39) missense probably benign 0.01
R4647:Arc UTSW 15 74,543,374 (GRCm39) missense probably damaging 1.00
R4855:Arc UTSW 15 74,543,592 (GRCm39) missense probably benign 0.01
R6436:Arc UTSW 15 74,544,098 (GRCm39) missense possibly damaging 0.47
R6743:Arc UTSW 15 74,543,636 (GRCm39) missense probably benign
R8678:Arc UTSW 15 74,543,539 (GRCm39) missense probably damaging 1.00
R9041:Arc UTSW 15 74,543,896 (GRCm39) missense probably damaging 1.00
R9070:Arc UTSW 15 74,543,833 (GRCm39) missense probably damaging 1.00
R9184:Arc UTSW 15 74,543,779 (GRCm39) missense probably damaging 1.00
R9428:Arc UTSW 15 74,543,063 (GRCm39) missense probably benign 0.01
RF003:Arc UTSW 15 74,543,980 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02