Incidental Mutation 'IGL02696:Actr8'
ID 303921
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actr8
Ensembl Gene ENSMUSG00000015971
Gene Name ARP8 actin-related protein 8
Synonyms ARP8, 5730542K05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02696
Quality Score
Status
Chromosome 14
Chromosomal Location 29700294-29717409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29704628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 43 (T43A)
Ref Sequence ENSEMBL: ENSMUSP00000153459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016115] [ENSMUST00000224797] [ENSMUST00000225811]
AlphaFold Q8R2S9
Predicted Effect probably benign
Transcript: ENSMUST00000016115
AA Change: T66A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000016115
Gene: ENSMUSG00000015971
AA Change: T66A

DomainStartEndE-ValueType
low complexity region 5 27 N/A INTRINSIC
ACTIN 46 621 3.34e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224343
Predicted Effect probably benign
Transcript: ENSMUST00000224797
AA Change: T66A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225793
Predicted Effect probably benign
Transcript: ENSMUST00000225811
AA Change: T43A

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T C 5: 129,217,918 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,115 (GRCm39) Y888* probably null Het
Atp8b5 T C 4: 43,369,634 (GRCm39) V924A possibly damaging Het
AU040320 T C 4: 126,736,380 (GRCm39) L821P probably damaging Het
Capn11 T C 17: 45,943,635 (GRCm39) N596S probably damaging Het
Cnot1 C A 8: 96,471,645 (GRCm39) V1219F probably benign Het
Cope T C 8: 70,763,143 (GRCm39) probably null Het
Crim1 A G 17: 78,587,402 (GRCm39) E169G probably damaging Het
Csmd3 A T 15: 47,533,065 (GRCm39) F2395I probably benign Het
Ctso A C 3: 81,858,691 (GRCm39) D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,128 (GRCm39) P577S probably benign Het
D930048N14Rik T A 11: 51,544,821 (GRCm39) probably benign Het
Dck T A 5: 88,920,666 (GRCm39) S129T probably damaging Het
Dlc1 A G 8: 37,041,326 (GRCm39) V1301A possibly damaging Het
Dusp16 G A 6: 134,695,398 (GRCm39) R478C probably damaging Het
Ermap C T 4: 119,044,904 (GRCm39) R49K possibly damaging Het
Flnc A G 6: 29,446,697 (GRCm39) K969R probably damaging Het
Gjb2 A T 14: 57,337,769 (GRCm39) F146L probably damaging Het
Hdc A T 2: 126,436,220 (GRCm39) D550E probably damaging Het
Hs6st3 A T 14: 120,106,731 (GRCm39) I380F probably damaging Het
Htr1d T C 4: 136,170,722 (GRCm39) V317A probably benign Het
Kalrn A T 16: 34,040,484 (GRCm39) M963K probably damaging Het
Kl T A 5: 150,904,450 (GRCm39) S401T probably benign Het
Lair1 A G 7: 4,013,848 (GRCm39) probably benign Het
Lrp5 C T 19: 3,652,253 (GRCm39) V1206I probably benign Het
Matn4 A G 2: 164,238,758 (GRCm39) F343S probably benign Het
Mrgpra4 G T 7: 47,631,251 (GRCm39) R117S possibly damaging Het
Myh14 T C 7: 44,314,530 (GRCm39) Y131C probably damaging Het
Nap1l4 A T 7: 143,077,898 (GRCm39) N345K possibly damaging Het
Oas1c T C 5: 120,943,528 (GRCm39) R204G probably benign Het
Or52e4 A G 7: 104,705,569 (GRCm39) T39A probably benign Het
Or8k25 T A 2: 86,243,959 (GRCm39) T146S probably benign Het
Pakap T A 4: 57,854,663 (GRCm39) D58E probably damaging Het
Pin1 G A 9: 20,574,531 (GRCm39) G150E probably benign Het
R3hdm2 T C 10: 127,300,888 (GRCm39) probably null Het
Rai1 C A 11: 60,084,782 (GRCm39) H1843Q probably benign Het
Siae G T 9: 37,542,680 (GRCm39) A194S probably damaging Het
Slc6a12 G T 6: 121,340,211 (GRCm39) V485L probably benign Het
Stil T G 4: 114,898,692 (GRCm39) S1107R probably damaging Het
Syt16 T C 12: 74,176,185 (GRCm39) V18A possibly damaging Het
Trpm8 A G 1: 88,275,773 (GRCm39) D457G probably damaging Het
Tshr A T 12: 91,460,103 (GRCm39) T66S possibly damaging Het
Ttn T A 2: 76,537,639 (GRCm39) Q34763L probably benign Het
Ubr2 T A 17: 47,274,691 (GRCm39) M830L probably benign Het
Ulk1 A G 5: 110,940,918 (GRCm39) F337S probably damaging Het
Other mutations in Actr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Actr8 APN 14 29,710,292 (GRCm39) missense probably damaging 1.00
IGL01449:Actr8 APN 14 29,712,927 (GRCm39) critical splice donor site probably null
IGL01577:Actr8 APN 14 29,709,232 (GRCm39) missense probably benign
IGL02118:Actr8 APN 14 29,704,728 (GRCm39) critical splice donor site probably null
IGL02647:Actr8 APN 14 29,712,847 (GRCm39) missense probably damaging 1.00
IGL02659:Actr8 APN 14 29,708,298 (GRCm39) missense probably damaging 1.00
IGL03015:Actr8 APN 14 29,708,273 (GRCm39) missense possibly damaging 0.81
IGL03335:Actr8 APN 14 29,700,514 (GRCm39) missense probably benign
R0512:Actr8 UTSW 14 29,700,513 (GRCm39) missense probably benign 0.00
R0735:Actr8 UTSW 14 29,711,669 (GRCm39) missense probably benign 0.02
R0926:Actr8 UTSW 14 29,709,181 (GRCm39) missense probably benign 0.02
R1443:Actr8 UTSW 14 29,706,056 (GRCm39) missense possibly damaging 0.73
R1470:Actr8 UTSW 14 29,708,926 (GRCm39) missense possibly damaging 0.90
R1470:Actr8 UTSW 14 29,708,926 (GRCm39) missense possibly damaging 0.90
R1616:Actr8 UTSW 14 29,704,601 (GRCm39) missense possibly damaging 0.53
R2097:Actr8 UTSW 14 29,709,185 (GRCm39) missense probably damaging 0.98
R2240:Actr8 UTSW 14 29,711,714 (GRCm39) missense possibly damaging 0.94
R2570:Actr8 UTSW 14 29,709,239 (GRCm39) missense probably damaging 1.00
R5122:Actr8 UTSW 14 29,704,672 (GRCm39) missense possibly damaging 0.95
R5439:Actr8 UTSW 14 29,708,952 (GRCm39) missense probably damaging 1.00
R5697:Actr8 UTSW 14 29,713,630 (GRCm39) missense possibly damaging 0.73
R5727:Actr8 UTSW 14 29,712,838 (GRCm39) missense probably benign 0.01
R5860:Actr8 UTSW 14 29,708,242 (GRCm39) nonsense probably null
R5988:Actr8 UTSW 14 29,715,030 (GRCm39) missense possibly damaging 0.71
R6006:Actr8 UTSW 14 29,706,099 (GRCm39) critical splice donor site probably null
R6009:Actr8 UTSW 14 29,700,454 (GRCm39) unclassified probably benign
R6155:Actr8 UTSW 14 29,700,546 (GRCm39) critical splice donor site probably null
R6190:Actr8 UTSW 14 29,713,674 (GRCm39) nonsense probably null
R6329:Actr8 UTSW 14 29,715,041 (GRCm39) nonsense probably null
R6483:Actr8 UTSW 14 29,700,538 (GRCm39) missense possibly damaging 0.53
R6517:Actr8 UTSW 14 29,704,673 (GRCm39) nonsense probably null
R6562:Actr8 UTSW 14 29,708,411 (GRCm39) splice site probably null
R7484:Actr8 UTSW 14 29,714,925 (GRCm39) missense probably damaging 1.00
R8190:Actr8 UTSW 14 29,706,030 (GRCm39) missense possibly damaging 0.66
R8236:Actr8 UTSW 14 29,704,585 (GRCm39) missense probably damaging 1.00
R8516:Actr8 UTSW 14 29,712,856 (GRCm39) missense probably benign 0.17
R9484:Actr8 UTSW 14 29,708,301 (GRCm39) missense probably benign 0.19
Z1177:Actr8 UTSW 14 29,709,199 (GRCm39) missense probably damaging 0.99
Z1177:Actr8 UTSW 14 29,708,358 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16