Incidental Mutation 'IGL01609:Actr5'
ID91925
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actr5
Ensembl Gene ENSMUSG00000037761
Gene NameARP5 actin-related protein 5
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01609
Quality Score
Status
Chromosome2
Chromosomal Location158624888-158639211 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 158636802 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045644] [ENSMUST00000183731]
Predicted Effect probably null
Transcript: ENSMUST00000045644
SMART Domains Protein: ENSMUSP00000046658
Gene: ENSMUSG00000037761

DomainStartEndE-ValueType
ACTIN 30 571 1.15e-36 SMART
low complexity region 593 605 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183586
Predicted Effect probably benign
Transcript: ENSMUST00000183731
SMART Domains Protein: ENSMUSP00000139110
Gene: ENSMUSG00000037761

DomainStartEndE-ValueType
ACTIN 30 399 3.1e-8 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,822,021 V299A probably benign Het
Arhgap18 A G 10: 26,880,748 D448G possibly damaging Het
Bcl9 T C 3: 97,208,975 E801G probably benign Het
Bin1 A G 18: 32,419,925 N232S probably damaging Het
Brf1 A C 12: 112,963,591 Y459D probably damaging Het
Clca4a T A 3: 144,953,780 I772F probably damaging Het
Cyp2a4 G A 7: 26,308,663 probably null Het
Dync1i2 T A 2: 71,247,008 probably benign Het
Frem3 T A 8: 80,612,704 M542K probably benign Het
Gm9992 A G 17: 7,369,739 V130A probably damaging Het
Gpbp1 T C 13: 111,439,202 T256A possibly damaging Het
Ighm T C 12: 113,421,234 probably benign Het
Igkv3-12 A G 6: 70,518,248 probably benign Het
Kdm4d A G 9: 14,464,418 V48A probably damaging Het
Lama2 T C 10: 27,344,421 S483G probably benign Het
Lbp A C 2: 158,328,412 Q464P probably damaging Het
Lipo4 T C 19: 33,499,254 T365A probably benign Het
Mark3 T C 12: 111,627,522 F274S probably damaging Het
Mcm3 A T 1: 20,814,680 probably benign Het
Mrpl9 T A 3: 94,444,694 F137I probably damaging Het
Msh4 G T 3: 153,897,397 A93E probably damaging Het
Mthfd1l T A 10: 4,018,567 D407E probably benign Het
Olfr101 C T 17: 37,299,738 R228H probably benign Het
Olfr1357 A C 10: 78,612,126 S172A probably benign Het
Olfr1406 G A 1: 173,184,276 H53Y probably benign Het
Pcsk2 G T 2: 143,801,158 V452L possibly damaging Het
Pcsk6 G A 7: 66,035,273 probably null Het
Pmfbp1 A G 8: 109,527,716 E461G probably benign Het
Pole2 A G 12: 69,207,857 probably null Het
Postn T C 3: 54,369,228 M176T probably damaging Het
Prss12 T A 3: 123,482,834 C371S probably damaging Het
Rnf11 T A 4: 109,456,976 Q72L possibly damaging Het
Rrad A G 8: 104,629,824 probably null Het
Slitrk3 T A 3: 73,050,237 I401F probably damaging Het
Themis A G 10: 28,668,753 probably benign Het
Tmem45a A G 16: 56,811,565 I230T probably benign Het
Tnni1 C A 1: 135,805,496 probably null Het
Trpa1 A T 1: 14,912,383 I83N probably damaging Het
Uggt1 T C 1: 36,182,474 Y54C probably damaging Het
Umodl1 C T 17: 30,998,826 T1202I possibly damaging Het
Usp37 G A 1: 74,475,040 A324V probably benign Het
Zfp808 T A 13: 62,173,209 C751S probably damaging Het
Other mutations in Actr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02622:Actr5 APN 2 158638808 missense probably benign 0.03
IGL02707:Actr5 APN 2 158636697 missense probably benign 0.45
R0610:Actr5 UTSW 2 158632456 critical splice donor site probably null
R1467:Actr5 UTSW 2 158638697 missense probably benign 0.02
R1467:Actr5 UTSW 2 158638697 missense probably benign 0.02
R1720:Actr5 UTSW 2 158636137 missense possibly damaging 0.93
R1869:Actr5 UTSW 2 158638723 missense probably damaging 0.99
R1937:Actr5 UTSW 2 158636029 missense possibly damaging 0.63
R2051:Actr5 UTSW 2 158632293 missense probably benign 0.00
R2389:Actr5 UTSW 2 158625212 missense probably benign
R2420:Actr5 UTSW 2 158636081 missense probably damaging 1.00
R2422:Actr5 UTSW 2 158636081 missense probably damaging 1.00
R2909:Actr5 UTSW 2 158625220 missense possibly damaging 0.52
R4089:Actr5 UTSW 2 158625102 utr 5 prime probably benign
R4719:Actr5 UTSW 2 158626513 missense probably damaging 0.97
R4737:Actr5 UTSW 2 158628071 missense probably damaging 1.00
R4820:Actr5 UTSW 2 158625506 missense probably damaging 1.00
R5010:Actr5 UTSW 2 158635363 missense probably benign 0.00
R5341:Actr5 UTSW 2 158625224 nonsense probably null
R5457:Actr5 UTSW 2 158635998 splice site probably null
R6328:Actr5 UTSW 2 158635344 missense possibly damaging 0.72
R7158:Actr5 UTSW 2 158626414 missense possibly damaging 0.95
Posted On2013-12-09