Incidental Mutation 'IGL02601:Anln'
ID 300079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anln
Ensembl Gene ENSMUSG00000036777
Gene Name anillin, actin binding protein
Synonyms 1110037A17Rik, Scraps, 2900037I21Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # IGL02601
Quality Score
Status
Chromosome 9
Chromosomal Location 22243308-22300484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22249331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 132 (I132K)
Ref Sequence ENSEMBL: ENSMUSP00000149721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040912] [ENSMUST00000215006]
AlphaFold Q8K298
Predicted Effect probably damaging
Transcript: ENSMUST00000040912
AA Change: I989K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045873
Gene: ENSMUSG00000036777
AA Change: I989K

DomainStartEndE-ValueType
low complexity region 97 121 N/A INTRINSIC
Pfam:Anillin_N 141 227 5e-34 PFAM
low complexity region 234 250 N/A INTRINSIC
low complexity region 282 298 N/A INTRINSIC
Pfam:Anillin_N 423 501 2.7e-6 PFAM
coiled coil region 566 599 N/A INTRINSIC
coiled coil region 710 729 N/A INTRINSIC
low complexity region 749 759 N/A INTRINSIC
Pfam:Anillin 797 950 8.8e-39 PFAM
PH 981 1106 1.8e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000215006
AA Change: I132K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217010
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,293,541 (GRCm39) V57M probably damaging Het
Agap3 A G 5: 24,688,369 (GRCm39) K23E possibly damaging Het
Anxa4 T C 6: 86,737,683 (GRCm39) T13A probably benign Het
Bdp1 A T 13: 100,235,022 (GRCm39) Y191N possibly damaging Het
Carm1 G A 9: 21,498,204 (GRCm39) V403M probably damaging Het
Cbx7 A G 15: 79,807,671 (GRCm39) probably null Het
Chd8 A C 14: 52,451,757 (GRCm39) N16K possibly damaging Het
Crtc3 A T 7: 80,242,315 (GRCm39) D499E probably damaging Het
Cul3 A G 1: 80,249,432 (GRCm39) probably benign Het
D430041D05Rik T C 2: 104,060,631 (GRCm39) D1421G probably damaging Het
Fgb T A 3: 82,952,367 (GRCm39) E167D probably benign Het
Gimap6 T A 6: 48,679,409 (GRCm39) Q209L probably damaging Het
Gm3604 G A 13: 62,517,990 (GRCm39) H123Y possibly damaging Het
Gm5884 A T 6: 128,622,749 (GRCm39) noncoding transcript Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Obox3 T C 7: 15,360,848 (GRCm39) E97G probably damaging Het
Obsl1 T C 1: 75,466,264 (GRCm39) H1488R probably benign Het
Or4e1 A T 14: 52,700,802 (GRCm39) Y221* probably null Het
Or6c75 A G 10: 129,337,723 (GRCm39) *323W probably null Het
Pak5 T A 2: 135,958,855 (GRCm39) K78* probably null Het
Paqr9 A G 9: 95,442,877 (GRCm39) N289S probably damaging Het
Pde3b G A 7: 114,122,577 (GRCm39) R715H probably damaging Het
Pglyrp2 T C 17: 32,634,835 (GRCm39) H509R probably benign Het
Pik3ap1 A C 19: 41,290,881 (GRCm39) N550K probably benign Het
Pon3 A G 6: 5,221,671 (GRCm39) Y320H probably damaging Het
Ptprt T A 2: 161,608,227 (GRCm39) T690S probably benign Het
Ptprz1 T A 6: 23,000,686 (GRCm39) D925E probably benign Het
Rag1 T C 2: 101,473,018 (GRCm39) D708G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rbmy1b A G Y: 3,774,885 (GRCm39) I27M probably benign Het
Rfx2 G A 17: 57,092,354 (GRCm39) H315Y possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sis T C 3: 72,820,543 (GRCm39) N1407S probably benign Het
Slco1c1 T A 6: 141,490,555 (GRCm39) L261Q probably damaging Het
Sox30 T G 11: 45,875,589 (GRCm39) L447R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssu72 A G 4: 155,789,882 (GRCm39) N15S possibly damaging Het
Stat4 C T 1: 52,137,574 (GRCm39) S455F probably damaging Het
Stk4 T A 2: 163,928,462 (GRCm39) L97Q probably damaging Het
Sulf1 A T 1: 12,856,869 (GRCm39) N40I probably damaging Het
Sympk G A 7: 18,782,794 (GRCm39) V877I probably benign Het
Taar7b A T 10: 23,876,204 (GRCm39) H123L probably damaging Het
Teddm1b A G 1: 153,750,362 (GRCm39) Y57C probably damaging Het
Tep1 A T 14: 51,070,935 (GRCm39) C2121* probably null Het
Tnfsf11 T A 14: 78,537,385 (GRCm39) R93* probably null Het
Tspan12 A C 6: 21,835,378 (GRCm39) probably benign Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Vps4a T C 8: 107,769,693 (GRCm39) I334T probably damaging Het
Zfhx3 T C 8: 109,583,462 (GRCm39) S1110P probably damaging Het
Zfp507 A G 7: 35,491,136 (GRCm39) S716P probably damaging Het
Other mutations in Anln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Anln APN 9 22,272,120 (GRCm39) nonsense probably null
IGL01634:Anln APN 9 22,271,771 (GRCm39) missense probably benign 0.00
IGL02145:Anln APN 9 22,250,292 (GRCm39) splice site probably null
IGL02296:Anln APN 9 22,283,483 (GRCm39) missense possibly damaging 0.67
IGL02352:Anln APN 9 22,279,708 (GRCm39) missense probably benign 0.00
IGL02821:Anln APN 9 22,269,418 (GRCm39) missense possibly damaging 0.55
IGL02863:Anln APN 9 22,287,661 (GRCm39) missense probably damaging 1.00
IGL03274:Anln APN 9 22,293,565 (GRCm39) missense probably damaging 1.00
R0114:Anln UTSW 9 22,264,642 (GRCm39) missense probably damaging 0.99
R0486:Anln UTSW 9 22,264,122 (GRCm39) missense probably benign 0.31
R0712:Anln UTSW 9 22,291,594 (GRCm39) missense probably benign 0.01
R1618:Anln UTSW 9 22,262,214 (GRCm39) critical splice donor site probably null
R1734:Anln UTSW 9 22,262,251 (GRCm39) missense possibly damaging 0.71
R1856:Anln UTSW 9 22,264,627 (GRCm39) missense probably damaging 1.00
R1999:Anln UTSW 9 22,244,348 (GRCm39) makesense probably null
R2073:Anln UTSW 9 22,244,464 (GRCm39) missense probably benign 0.45
R2075:Anln UTSW 9 22,244,464 (GRCm39) missense probably benign 0.45
R2696:Anln UTSW 9 22,272,259 (GRCm39) missense probably benign 0.08
R2943:Anln UTSW 9 22,267,342 (GRCm39) splice site probably null
R4278:Anln UTSW 9 22,245,296 (GRCm39) critical splice donor site probably null
R4548:Anln UTSW 9 22,274,184 (GRCm39) missense possibly damaging 0.80
R4887:Anln UTSW 9 22,291,484 (GRCm39) missense possibly damaging 0.46
R4979:Anln UTSW 9 22,287,797 (GRCm39) missense probably benign
R5087:Anln UTSW 9 22,286,340 (GRCm39) missense possibly damaging 0.61
R5197:Anln UTSW 9 22,264,077 (GRCm39) critical splice donor site probably null
R5353:Anln UTSW 9 22,271,813 (GRCm39) missense probably damaging 1.00
R5748:Anln UTSW 9 22,249,230 (GRCm39) missense probably damaging 0.97
R5863:Anln UTSW 9 22,249,280 (GRCm39) missense probably damaging 0.99
R6146:Anln UTSW 9 22,287,604 (GRCm39) nonsense probably null
R6152:Anln UTSW 9 22,271,803 (GRCm39) missense probably damaging 0.98
R6170:Anln UTSW 9 22,279,793 (GRCm39) missense probably benign 0.01
R6261:Anln UTSW 9 22,275,342 (GRCm39) missense probably damaging 1.00
R6264:Anln UTSW 9 22,245,413 (GRCm39) missense possibly damaging 0.82
R6656:Anln UTSW 9 22,262,298 (GRCm39) missense probably damaging 1.00
R6864:Anln UTSW 9 22,293,545 (GRCm39) missense probably benign 0.36
R7514:Anln UTSW 9 22,272,153 (GRCm39) missense probably damaging 0.96
R7789:Anln UTSW 9 22,263,333 (GRCm39) missense
R7807:Anln UTSW 9 22,272,176 (GRCm39) missense probably damaging 1.00
R7840:Anln UTSW 9 22,274,019 (GRCm39) missense probably benign 0.03
R7912:Anln UTSW 9 22,269,965 (GRCm39) missense possibly damaging 0.53
R8246:Anln UTSW 9 22,262,251 (GRCm39) missense probably benign 0.00
R8720:Anln UTSW 9 22,284,573 (GRCm39) missense probably benign 0.00
R8839:Anln UTSW 9 22,267,468 (GRCm39) missense probably benign 0.02
R9054:Anln UTSW 9 22,272,116 (GRCm39) critical splice donor site probably null
R9094:Anln UTSW 9 22,249,283 (GRCm39) missense probably benign 0.03
R9507:Anln UTSW 9 22,274,136 (GRCm39) missense probably damaging 1.00
R9683:Anln UTSW 9 22,283,536 (GRCm39) nonsense probably null
R9802:Anln UTSW 9 22,245,453 (GRCm39) missense probably damaging 0.99
R9803:Anln UTSW 9 22,283,518 (GRCm39) missense probably damaging 1.00
Z1088:Anln UTSW 9 22,274,097 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16