Incidental Mutation 'IGL01307:Actl9'
ID 73508
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actl9
Ensembl Gene ENSMUSG00000092519
Gene Name actin-like 9
Synonyms 1700029I08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01307
Quality Score
Status
Chromosome 17
Chromosomal Location 33651873-33653242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33653152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 404 (E404G)
Ref Sequence ENSEMBL: ENSMUSP00000134564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000174088]
AlphaFold Q8CG27
Predicted Effect probably damaging
Transcript: ENSMUST00000174088
AA Change: E404G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134564
Gene: ENSMUSG00000092519
AA Change: E404G

DomainStartEndE-ValueType
ACTIN 48 415 6.36e-112 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,247,159 (GRCm39) M2302K possibly damaging Het
Adamts12 A T 15: 11,237,632 (GRCm39) I314L possibly damaging Het
Card6 C A 15: 5,129,484 (GRCm39) M637I possibly damaging Het
Ccdc122 G A 14: 77,329,516 (GRCm39) probably benign Het
Cdh10 A G 15: 18,899,886 (GRCm39) D71G probably benign Het
Cdk15 A T 1: 59,326,955 (GRCm39) Y214F probably benign Het
Cdon A G 9: 35,368,860 (GRCm39) K365E probably benign Het
Cyp2c37 T C 19: 39,981,023 (GRCm39) V47A probably benign Het
Ddc T A 11: 11,789,462 (GRCm39) D271V probably damaging Het
Dnah6 G A 6: 73,042,708 (GRCm39) A3290V probably damaging Het
Dtl A T 1: 191,302,811 (GRCm39) S20T possibly damaging Het
Egf A C 3: 129,533,642 (GRCm39) I66S probably damaging Het
Eif4a3 T C 11: 119,184,387 (GRCm39) K268E probably damaging Het
Fbxl16 A T 17: 26,038,338 (GRCm39) probably benign Het
Fez2 C T 17: 78,689,029 (GRCm39) probably benign Het
Fras1 C A 5: 96,929,551 (GRCm39) T3985K probably benign Het
Gbp4 T C 5: 105,284,887 (GRCm39) M1V probably null Het
Gpnmb A G 6: 49,022,299 (GRCm39) D143G probably benign Het
Grm5 A T 7: 87,724,220 (GRCm39) T837S probably damaging Het
Hmcn1 T C 1: 150,620,752 (GRCm39) T1153A possibly damaging Het
Hp C T 8: 110,302,415 (GRCm39) V178I probably benign Het
Macf1 A T 4: 123,276,922 (GRCm39) V4061E probably damaging Het
Msto1 C A 3: 88,820,993 (GRCm39) R34L probably benign Het
Mtf2 C T 5: 108,254,756 (GRCm39) T519M probably damaging Het
Myo3a T A 2: 22,448,301 (GRCm39) N25K probably damaging Het
Ncapd2 A G 6: 125,145,582 (GRCm39) V1355A possibly damaging Het
Nhlrc2 C A 19: 56,540,231 (GRCm39) Y73* probably null Het
Nwd2 A T 5: 63,965,626 (GRCm39) S1737C possibly damaging Het
Or1p1 T A 11: 74,180,254 (GRCm39) C261S possibly damaging Het
Osmr A G 15: 6,873,908 (GRCm39) V163A probably damaging Het
Palm3 T C 8: 84,756,074 (GRCm39) S529P possibly damaging Het
Pcnt A G 10: 76,247,422 (GRCm39) Y1037H probably damaging Het
Pkhd1l1 T C 15: 44,393,425 (GRCm39) I1920T possibly damaging Het
Plekha7 A G 7: 115,744,479 (GRCm39) probably benign Het
Psd C T 19: 46,303,097 (GRCm39) G762R probably damaging Het
Psmb8 A G 17: 34,418,210 (GRCm39) T51A probably benign Het
Rbm12 A C 2: 155,937,302 (GRCm39) probably benign Het
Rictor T A 15: 6,804,085 (GRCm39) probably null Het
Slc24a5 G A 2: 124,922,800 (GRCm39) G158S probably damaging Het
Spata31f1a G T 4: 42,850,963 (GRCm39) L398I probably benign Het
Stag1 A G 9: 100,833,841 (GRCm39) probably benign Het
Tln2 A G 9: 67,302,749 (GRCm39) M74T probably benign Het
Trim24 C A 6: 37,942,570 (GRCm39) D957E possibly damaging Het
Trpa1 A T 1: 14,966,771 (GRCm39) M531K probably benign Het
Ttn A G 2: 76,736,637 (GRCm39) Y4376H possibly damaging Het
Twsg1 T C 17: 66,255,646 (GRCm39) probably benign Het
Usp34 T A 11: 23,367,676 (GRCm39) V1671E probably damaging Het
Vwa5b2 A G 16: 20,423,020 (GRCm39) D1006G probably benign Het
Other mutations in Actl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01990:Actl9 APN 17 33,653,068 (GRCm39) missense probably benign 0.09
IGL02691:Actl9 APN 17 33,652,092 (GRCm39) missense probably damaging 0.99
IGL02930:Actl9 APN 17 33,653,073 (GRCm39) missense probably damaging 1.00
nerva UTSW 17 33,652,096 (GRCm39) missense probably damaging 1.00
PIT4486001:Actl9 UTSW 17 33,653,172 (GRCm39) missense possibly damaging 0.95
R0523:Actl9 UTSW 17 33,652,323 (GRCm39) missense probably damaging 1.00
R0606:Actl9 UTSW 17 33,652,572 (GRCm39) missense probably damaging 1.00
R1545:Actl9 UTSW 17 33,652,231 (GRCm39) missense probably damaging 1.00
R1732:Actl9 UTSW 17 33,652,096 (GRCm39) missense probably damaging 1.00
R3958:Actl9 UTSW 17 33,652,738 (GRCm39) missense probably benign 0.09
R4701:Actl9 UTSW 17 33,652,909 (GRCm39) missense probably benign 0.26
R4943:Actl9 UTSW 17 33,652,059 (GRCm39) missense possibly damaging 0.95
R4971:Actl9 UTSW 17 33,652,882 (GRCm39) missense probably damaging 1.00
R5032:Actl9 UTSW 17 33,653,062 (GRCm39) missense probably benign 0.04
R5236:Actl9 UTSW 17 33,653,073 (GRCm39) missense probably damaging 1.00
R5782:Actl9 UTSW 17 33,652,735 (GRCm39) missense probably benign 0.00
R6127:Actl9 UTSW 17 33,652,354 (GRCm39) missense probably benign 0.03
R6808:Actl9 UTSW 17 33,652,098 (GRCm39) missense probably damaging 1.00
R6899:Actl9 UTSW 17 33,652,533 (GRCm39) missense probably damaging 1.00
R7657:Actl9 UTSW 17 33,652,014 (GRCm39) missense probably benign 0.04
R7663:Actl9 UTSW 17 33,652,443 (GRCm39) missense probably damaging 1.00
R7905:Actl9 UTSW 17 33,652,801 (GRCm39) missense possibly damaging 0.92
R9140:Actl9 UTSW 17 33,652,170 (GRCm39) missense possibly damaging 0.70
R9224:Actl9 UTSW 17 33,653,004 (GRCm39) missense probably benign 0.03
X0062:Actl9 UTSW 17 33,652,102 (GRCm39) missense probably damaging 1.00
Z1176:Actl9 UTSW 17 33,652,075 (GRCm39) missense possibly damaging 0.95
Z1177:Actl9 UTSW 17 33,652,087 (GRCm39) missense probably damaging 0.98
Posted On 2013-10-07