Incidental Mutation 'IGL01396:Actl11'
ID 79440
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actl11
Ensembl Gene ENSMUSG00000066368
Gene Name actin-like 11
Synonyms 4921517D21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL01396
Quality Score
Status
Chromosome 9
Chromosomal Location 107805668-107809660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107805964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 96 (S96P)
Ref Sequence ENSEMBL: ENSMUSP00000082150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085073]
AlphaFold Q9D5V1
Predicted Effect possibly damaging
Transcript: ENSMUST00000085073
AA Change: S96P

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000082150
Gene: ENSMUSG00000066368
AA Change: S96P

DomainStartEndE-ValueType
low complexity region 223 239 N/A INTRINSIC
low complexity region 301 309 N/A INTRINSIC
low complexity region 374 391 N/A INTRINSIC
low complexity region 492 507 N/A INTRINSIC
low complexity region 697 710 N/A INTRINSIC
ACTIN 858 1207 4.26e-81 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,649 (GRCm39) Y469N probably benign Het
Ankrd13b T A 11: 77,363,198 (GRCm39) probably null Het
Apobec4 T A 1: 152,632,017 (GRCm39) I15K probably damaging Het
Arhgef28 G T 13: 98,090,401 (GRCm39) D1039E probably damaging Het
Atp1a1 C T 3: 101,498,769 (GRCm39) G175R probably damaging Het
AU040320 T A 4: 126,763,171 (GRCm39) probably benign Het
Bcl9l G A 9: 44,418,121 (GRCm39) R653H probably damaging Het
Ccdc141 T A 2: 76,958,669 (GRCm39) I144L possibly damaging Het
Cdh20 C T 1: 104,875,154 (GRCm39) T312I possibly damaging Het
Cdh23 C T 10: 60,220,848 (GRCm39) V1297I possibly damaging Het
Cfap57 T C 4: 118,467,792 (GRCm39) Y315C probably damaging Het
Chd8 A G 14: 52,442,044 (GRCm39) probably benign Het
Cog5 A G 12: 31,944,095 (GRCm39) D660G probably benign Het
Cps1 T C 1: 67,196,945 (GRCm39) I332T probably damaging Het
Csgalnact2 T C 6: 118,103,288 (GRCm39) T225A probably damaging Het
Dchs1 A G 7: 105,421,490 (GRCm39) L310P probably damaging Het
Dgki T C 6: 36,977,025 (GRCm39) N695S probably damaging Het
Gas7 T A 11: 67,543,740 (GRCm39) probably null Het
Gm21286 T C 4: 60,794,323 (GRCm39) noncoding transcript Het
Gm4799 C T 10: 82,790,518 (GRCm39) noncoding transcript Het
Hdac4 T C 1: 91,887,196 (GRCm39) probably benign Het
Hif1a T A 12: 73,987,307 (GRCm39) S467T probably benign Het
Ier5 A G 1: 154,974,296 (GRCm39) V294A probably damaging Het
Ifna11 T C 4: 88,738,314 (GRCm39) V40A probably benign Het
Itga9 T C 9: 118,436,191 (GRCm39) probably benign Het
Lbx1 G T 19: 45,222,670 (GRCm39) Q118K probably benign Het
Lta A T 17: 35,423,061 (GRCm39) probably null Het
Matr3 A G 18: 35,721,442 (GRCm39) Y471C probably damaging Het
Nrg2 A T 18: 36,178,905 (GRCm39) probably benign Het
Or4c103 C T 2: 88,513,575 (GRCm39) C167Y probably damaging Het
Or4k51 T C 2: 111,584,848 (GRCm39) F85L probably benign Het
Or4k51 T A 2: 111,584,948 (GRCm39) M118K probably damaging Het
Or5l13 G T 2: 87,780,207 (GRCm39) F123L probably damaging Het
Patl1 A G 19: 11,901,247 (GRCm39) K299R probably damaging Het
Pdgfrb A G 18: 61,205,736 (GRCm39) E574G probably damaging Het
Phf3 G A 1: 30,843,386 (GRCm39) Q1858* probably null Het
Prkca T C 11: 107,905,148 (GRCm39) K197E possibly damaging Het
Psmc6 C A 14: 45,581,124 (GRCm39) Q307K probably benign Het
Rasa1 T C 13: 85,406,561 (GRCm39) I181V probably benign Het
Scel A G 14: 103,845,530 (GRCm39) probably benign Het
Scn5a A T 9: 119,363,770 (GRCm39) S457T probably damaging Het
Sesn3 A G 9: 14,232,374 (GRCm39) T216A probably benign Het
Slc25a21 A G 12: 57,205,974 (GRCm39) V19A probably benign Het
Slc34a1 A G 13: 55,550,546 (GRCm39) T81A probably damaging Het
Slc35a5 A G 16: 44,971,866 (GRCm39) Y117H probably damaging Het
Sptbn4 A G 7: 27,114,196 (GRCm39) V569A probably benign Het
Sqle A G 15: 59,195,723 (GRCm39) Y333C probably damaging Het
Svep1 T C 4: 58,068,552 (GRCm39) E3078G possibly damaging Het
Tacc2 T A 7: 130,360,919 (GRCm39) I2737N probably damaging Het
Tet3 A T 6: 83,346,620 (GRCm39) Y1272* probably null Het
Tnr G T 1: 159,724,594 (GRCm39) R1095L possibly damaging Het
Vmn1r184 T C 7: 25,966,862 (GRCm39) S203P probably damaging Het
Vmn2r94 A G 17: 18,477,301 (GRCm39) L370P probably damaging Het
Xrcc5 A G 1: 72,393,404 (GRCm39) H559R probably benign Het
Other mutations in Actl11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Actl11 APN 9 107,806,181 (GRCm39) missense possibly damaging 0.49
IGL01622:Actl11 APN 9 107,805,775 (GRCm39) missense probably benign 0.03
IGL01623:Actl11 APN 9 107,805,775 (GRCm39) missense probably benign 0.03
IGL01660:Actl11 APN 9 107,806,247 (GRCm39) missense probably benign
IGL01912:Actl11 APN 9 107,806,844 (GRCm39) missense probably damaging 0.98
IGL02002:Actl11 APN 9 107,806,529 (GRCm39) missense probably benign 0.08
IGL02266:Actl11 APN 9 107,808,382 (GRCm39) missense possibly damaging 0.76
IGL02535:Actl11 APN 9 107,807,136 (GRCm39) missense possibly damaging 0.71
IGL02692:Actl11 APN 9 107,806,507 (GRCm39) missense probably benign 0.06
IGL02744:Actl11 APN 9 107,807,061 (GRCm39) missense probably benign 0.04
IGL02864:Actl11 APN 9 107,806,186 (GRCm39) missense probably benign 0.25
IGL03037:Actl11 APN 9 107,807,294 (GRCm39) missense probably damaging 0.99
IGL03085:Actl11 APN 9 107,806,749 (GRCm39) missense probably damaging 0.98
R0167:Actl11 UTSW 9 107,806,969 (GRCm39) missense probably damaging 1.00
R0304:Actl11 UTSW 9 107,806,967 (GRCm39) missense probably damaging 1.00
R0959:Actl11 UTSW 9 107,808,434 (GRCm39) missense probably damaging 1.00
R1499:Actl11 UTSW 9 107,808,682 (GRCm39) missense probably damaging 1.00
R1616:Actl11 UTSW 9 107,809,135 (GRCm39) missense probably benign 0.39
R1694:Actl11 UTSW 9 107,807,207 (GRCm39) missense probably damaging 1.00
R1927:Actl11 UTSW 9 107,806,736 (GRCm39) missense possibly damaging 0.88
R2081:Actl11 UTSW 9 107,807,396 (GRCm39) missense probably benign
R2939:Actl11 UTSW 9 107,808,409 (GRCm39) missense possibly damaging 0.84
R3427:Actl11 UTSW 9 107,806,969 (GRCm39) missense probably damaging 1.00
R4812:Actl11 UTSW 9 107,808,329 (GRCm39) missense probably damaging 0.99
R4843:Actl11 UTSW 9 107,806,691 (GRCm39) missense possibly damaging 0.61
R4972:Actl11 UTSW 9 107,807,155 (GRCm39) missense probably benign 0.07
R4989:Actl11 UTSW 9 107,808,615 (GRCm39) missense probably damaging 1.00
R4996:Actl11 UTSW 9 107,808,934 (GRCm39) missense possibly damaging 0.77
R5320:Actl11 UTSW 9 107,808,203 (GRCm39) missense possibly damaging 0.73
R5546:Actl11 UTSW 9 107,806,832 (GRCm39) missense probably benign 0.00
R5810:Actl11 UTSW 9 107,806,420 (GRCm39) missense probably benign 0.23
R6302:Actl11 UTSW 9 107,806,772 (GRCm39) missense probably benign 0.12
R6412:Actl11 UTSW 9 107,807,116 (GRCm39) missense probably benign 0.01
R6835:Actl11 UTSW 9 107,807,761 (GRCm39) missense probably benign
R6891:Actl11 UTSW 9 107,806,346 (GRCm39) missense probably benign 0.03
R7195:Actl11 UTSW 9 107,806,069 (GRCm39) nonsense probably null
R7212:Actl11 UTSW 9 107,805,856 (GRCm39) missense probably damaging 0.99
R8478:Actl11 UTSW 9 107,805,844 (GRCm39) missense possibly damaging 0.81
R8670:Actl11 UTSW 9 107,805,959 (GRCm39) missense possibly damaging 0.76
R8683:Actl11 UTSW 9 107,806,065 (GRCm39) missense probably benign 0.15
R9114:Actl11 UTSW 9 107,808,509 (GRCm39) missense possibly damaging 0.62
R9233:Actl11 UTSW 9 107,807,900 (GRCm39) missense possibly damaging 0.91
R9280:Actl11 UTSW 9 107,808,573 (GRCm39) missense probably damaging 1.00
R9361:Actl11 UTSW 9 107,805,824 (GRCm39) missense probably damaging 1.00
R9565:Actl11 UTSW 9 107,808,121 (GRCm39) missense possibly damaging 0.92
X0024:Actl11 UTSW 9 107,807,704 (GRCm39) missense probably benign 0.01
Z1176:Actl11 UTSW 9 107,808,899 (GRCm39) missense probably benign 0.20
Posted On 2013-11-05