Incidental Mutation 'IGL02930:Actl9'
ID364064
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actl9
Ensembl Gene ENSMUSG00000092519
Gene Nameactin-like 9
Synonyms1700029I08Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02930
Quality Score
Status
Chromosome17
Chromosomal Location33432896-33434268 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33434099 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 378 (S378P)
Ref Sequence ENSEMBL: ENSMUSP00000134564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000174088]
Predicted Effect probably damaging
Transcript: ENSMUST00000174088
AA Change: S378P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134564
Gene: ENSMUSG00000092519
AA Change: S378P

DomainStartEndE-ValueType
ACTIN 48 415 6.36e-112 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,378,226 N3433S possibly damaging Het
Aldh6a1 C A 12: 84,433,982 L426F possibly damaging Het
Ankef1 T C 2: 136,550,325 I478T possibly damaging Het
Cabs1 A G 5: 87,979,886 D132G probably damaging Het
Ccdc39 T C 3: 33,825,494 E475G probably damaging Het
Cmtm2b A C 8: 104,329,770 M104L probably benign Het
Cops2 T C 2: 125,832,189 probably benign Het
Dnajc4 C A 19: 6,989,433 V176F possibly damaging Het
Eepd1 A G 9: 25,483,240 N267D probably damaging Het
Elobl T G 11: 88,965,186 D17A possibly damaging Het
Erich6 G A 3: 58,622,354 probably benign Het
Flna G A X: 74,223,900 R2548C probably damaging Het
Gm6878 T G 14: 67,310,990 probably benign Het
Gpc1 G T 1: 92,857,299 E355* probably null Het
Islr C T 9: 58,158,200 probably benign Het
Mex3a A T 3: 88,536,225 I203L probably benign Het
Olfr482 A T 7: 108,095,414 I52N probably damaging Het
Olfr794 T C 10: 129,571,315 I220T probably damaging Het
Olfr938 G T 9: 39,078,012 H244Q probably damaging Het
Prokr2 T C 2: 132,373,474 S195G probably benign Het
Pyroxd1 A T 6: 142,359,052 D335V probably damaging Het
Rps6kl1 T C 12: 85,149,774 T39A probably benign Het
Rusc2 G A 4: 43,416,376 A561T probably damaging Het
Sel1l3 A C 5: 53,123,217 V937G possibly damaging Het
Sh3pxd2b A G 11: 32,417,161 T382A possibly damaging Het
Tbx21 A G 11: 97,100,039 I271T probably damaging Het
Timeless T C 10: 128,247,191 V632A probably benign Het
Tle3 A G 9: 61,394,699 N67S possibly damaging Het
Tln2 G A 9: 67,393,662 R95* probably null Het
Trim24 A G 6: 37,951,445 probably benign Het
Uggt1 A T 1: 36,157,456 D1253E probably benign Het
Vmn1r8 A G 6: 57,036,594 K210R probably benign Het
Other mutations in Actl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Actl9 APN 17 33434178 missense probably damaging 1.00
IGL01990:Actl9 APN 17 33434094 missense probably benign 0.09
IGL02691:Actl9 APN 17 33433118 missense probably damaging 0.99
nerva UTSW 17 33433122 missense probably damaging 1.00
PIT4486001:Actl9 UTSW 17 33434198 missense possibly damaging 0.95
R0523:Actl9 UTSW 17 33433349 missense probably damaging 1.00
R0606:Actl9 UTSW 17 33433598 missense probably damaging 1.00
R1545:Actl9 UTSW 17 33433257 missense probably damaging 1.00
R1732:Actl9 UTSW 17 33433122 missense probably damaging 1.00
R3958:Actl9 UTSW 17 33433764 missense probably benign 0.09
R4701:Actl9 UTSW 17 33433935 missense probably benign 0.26
R4943:Actl9 UTSW 17 33433085 missense possibly damaging 0.95
R4971:Actl9 UTSW 17 33433908 missense probably damaging 1.00
R5032:Actl9 UTSW 17 33434088 missense probably benign 0.04
R5236:Actl9 UTSW 17 33434099 missense probably damaging 1.00
R5782:Actl9 UTSW 17 33433761 missense probably benign 0.00
R6127:Actl9 UTSW 17 33433380 missense probably benign 0.03
R6808:Actl9 UTSW 17 33433124 missense probably damaging 1.00
R6899:Actl9 UTSW 17 33433559 missense probably damaging 1.00
R7657:Actl9 UTSW 17 33433040 missense probably benign 0.04
R7663:Actl9 UTSW 17 33433469 missense probably damaging 1.00
R7905:Actl9 UTSW 17 33433827 missense possibly damaging 0.92
R7988:Actl9 UTSW 17 33433827 missense possibly damaging 0.92
X0062:Actl9 UTSW 17 33433128 missense probably damaging 1.00
Posted On2015-12-18