Incidental Mutation 'IGL01898:Actl10'
ID179451
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actl10
Ensembl Gene ENSMUSG00000078129
Gene Nameactin-like 10
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01898
Quality Score
Status
Chromosome2
Chromosomal Location154551776-154553276 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 154552713 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 195 (D195V)
Ref Sequence ENSEMBL: ENSMUSP00000100532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000895] [ENSMUST00000045116] [ENSMUST00000104928] [ENSMUST00000109709] [ENSMUST00000109716] [ENSMUST00000125793] [ENSMUST00000226583]
Predicted Effect probably benign
Transcript: ENSMUST00000000895
SMART Domains Protein: ENSMUSP00000000895
Gene: ENSMUSG00000027489

DomainStartEndE-ValueType
Pfam:EF-hand_1 31 58 7.3e-8 PFAM
Pfam:EF-hand_5 32 57 4.6e-9 PFAM
low complexity region 180 203 N/A INTRINSIC
coiled coil region 209 237 N/A INTRINSIC
Pfam:ABM 252 327 4.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045116
SMART Domains Protein: ENSMUSP00000035523
Gene: ENSMUSG00000038523

DomainStartEndE-ValueType
Pfam:Bclt 1 194 2.1e-90 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000104928
AA Change: D195V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100532
Gene: ENSMUSG00000078129
AA Change: D195V

DomainStartEndE-ValueType
ACTIN 2 345 2.52e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109709
SMART Domains Protein: ENSMUSP00000105331
Gene: ENSMUSG00000038523

DomainStartEndE-ValueType
Pfam:Bclt 1 207 1.9e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109716
SMART Domains Protein: ENSMUSP00000105338
Gene: ENSMUSG00000027489

DomainStartEndE-ValueType
Pfam:EF-hand_1 31 59 6.9e-8 PFAM
Pfam:EF-hand_5 32 57 1.7e-9 PFAM
low complexity region 180 203 N/A INTRINSIC
Pfam:ABM 232 303 2.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124382
Predicted Effect probably benign
Transcript: ENSMUST00000125793
SMART Domains Protein: ENSMUSP00000117090
Gene: ENSMUSG00000027489

DomainStartEndE-ValueType
low complexity region 146 168 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149725
Predicted Effect probably damaging
Transcript: ENSMUST00000226583
AA Change: D94V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp11 A G 7: 97,726,663 W260R probably benign Het
Atp8a2 T C 14: 60,023,513 T390A probably damaging Het
Atp8b4 T C 2: 126,389,361 N431S probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Ccdc110 T G 8: 45,942,124 S351A possibly damaging Het
Cntnap4 T C 8: 112,856,307 F1006L possibly damaging Het
Ddr2 A G 1: 169,998,156 F292L possibly damaging Het
F830104G03Rik G A 3: 56,890,216 Q97* probably null Het
Fam171a2 T C 11: 102,439,756 T267A possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Igkv5-45 T A 6: 69,775,892 K69* probably null Het
Mios T C 6: 8,222,668 I534T probably benign Het
Nus1 A G 10: 52,430,067 D185G probably benign Het
Proc A G 18: 32,133,145 probably null Het
Psma3 T A 12: 70,984,674 H36Q probably benign Het
Sh3rf3 G T 10: 59,049,530 A412S probably damaging Het
Smgc A T 15: 91,844,524 probably null Het
Spta1 T A 1: 174,213,862 S1297R probably benign Het
Steap3 T C 1: 120,241,574 D293G probably benign Het
Tbx18 A T 9: 87,707,859 M342K possibly damaging Het
Trip11 T C 12: 101,885,676 M425V probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Actl10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0394:Actl10 UTSW 2 154553037 missense probably benign
R1055:Actl10 UTSW 2 154552668 missense probably benign 0.22
R1837:Actl10 UTSW 2 154553042 missense probably damaging 1.00
R2122:Actl10 UTSW 2 154552233 missense probably damaging 0.99
R7100:Actl10 UTSW 2 154552395 missense probably damaging 1.00
R8078:Actl10 UTSW 2 154552570 missense probably benign 0.17
Posted On2014-05-07