Incidental Mutation 'R4979:Anln'
ID 384677
Institutional Source Beutler Lab
Gene Symbol Anln
Ensembl Gene ENSMUSG00000036777
Gene Name anillin, actin binding protein
Synonyms 1110037A17Rik, Scraps, 2900037I21Rik
MMRRC Submission 042574-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R4979 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 22243308-22300484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22287797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 168 (Y168C)
Ref Sequence ENSEMBL: ENSMUSP00000045873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040912]
AlphaFold Q8K298
Predicted Effect probably benign
Transcript: ENSMUST00000040912
AA Change: Y168C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045873
Gene: ENSMUSG00000036777
AA Change: Y168C

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 noncoding transcript
Transcript: ENSMUST00000214468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215486
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 99% (79/80)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,220,643 (GRCm39) E381K probably damaging Het
Abca1 T C 4: 53,085,092 (GRCm39) probably null Het
Abca7 C T 10: 79,840,617 (GRCm39) Q870* probably null Het
Ambp C T 4: 63,070,888 (GRCm39) V64M probably benign Het
Ank1 T C 8: 23,622,212 (GRCm39) V1542A probably damaging Het
Apoa4 T A 9: 46,152,803 (GRCm39) N29K probably benign Het
Arfgef1 T C 1: 10,283,334 (GRCm39) T192A probably damaging Het
Atad2b G T 12: 5,084,513 (GRCm39) D1420Y probably damaging Het
Baiap3 A G 17: 25,465,336 (GRCm39) W648R possibly damaging Het
Bank1 A G 3: 135,960,662 (GRCm39) L198P probably damaging Het
Bicd2 A G 13: 49,532,940 (GRCm39) K509E possibly damaging Het
Cacna1e T C 1: 154,289,739 (GRCm39) D1821G probably damaging Het
Ccdc80 G A 16: 44,936,650 (GRCm39) V692M possibly damaging Het
Ccdc88a C T 11: 29,432,133 (GRCm39) Q308* probably null Het
Ccl8 T C 11: 82,006,973 (GRCm39) V62A probably damaging Het
Clspn C A 4: 126,472,179 (GRCm39) P951Q probably damaging Het
Cngb1 T A 8: 95,985,785 (GRCm39) I858F probably damaging Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Ctc1 C T 11: 68,924,328 (GRCm39) A960V probably damaging Het
Ctnnd2 A G 15: 31,009,221 (GRCm39) E1106G probably damaging Het
Dido1 C T 2: 180,302,606 (GRCm39) R1766H probably damaging Het
Dipk1a A T 5: 108,057,400 (GRCm39) L386* probably null Het
Dnajc13 G T 9: 104,063,922 (GRCm39) N1341K probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
E2f8 G A 7: 48,524,918 (GRCm39) probably benign Het
Entpd8 A G 2: 24,972,967 (GRCm39) D91G possibly damaging Het
Fars2 A G 13: 36,388,564 (GRCm39) R18G possibly damaging Het
Fcgbp A G 7: 27,816,995 (GRCm39) S2486G probably benign Het
Fibin C T 2: 110,192,963 (GRCm39) D60N possibly damaging Het
Fpgs A G 2: 32,577,379 (GRCm39) probably benign Het
Galnt15 A G 14: 31,765,247 (GRCm39) D303G probably damaging Het
Gli3 C A 13: 15,899,049 (GRCm39) T812K possibly damaging Het
Gpbar1 G C 1: 74,318,404 (GRCm39) A216P probably benign Het
Grin2d A G 7: 45,507,357 (GRCm39) I448T probably benign Het
Il21 C A 3: 37,286,653 (GRCm39) S21I probably damaging Het
Iqce G T 5: 140,677,376 (GRCm39) D148E probably damaging Het
Iqcg T A 16: 32,839,884 (GRCm39) E354V probably damaging Het
Iws1 T C 18: 32,226,320 (GRCm39) probably benign Het
Ly75 C T 2: 60,206,238 (GRCm39) G144S probably damaging Het
Marco C A 1: 120,421,954 (GRCm39) M83I probably benign Het
Mettl6 A T 14: 31,201,752 (GRCm39) L185H probably damaging Het
Mppe1 C T 18: 67,362,773 (GRCm39) G154D probably damaging Het
Mrpl42 T C 10: 95,326,237 (GRCm39) E85G probably benign Het
Neb A G 2: 52,079,921 (GRCm39) V5518A probably damaging Het
Or12d13 A T 17: 37,647,759 (GRCm39) F121L probably benign Het
Or52p1 T A 7: 104,267,812 (GRCm39) F317I probably null Het
Or5b105 A T 19: 13,080,053 (GRCm39) I199N probably damaging Het
Or7a42 T A 10: 78,791,766 (GRCm39) C242* probably null Het
Or7d10 G T 9: 19,831,655 (GRCm39) S50I probably benign Het
Perm1 A G 4: 156,302,034 (GRCm39) T193A probably benign Het
Prkd2 T A 7: 16,582,652 (GRCm39) C172S probably damaging Het
Prr23a3 T A 9: 98,747,431 (GRCm39) D128E possibly damaging Het
Prss28 A G 17: 25,528,711 (GRCm39) Y51C probably damaging Het
Psmb1 A T 17: 15,696,451 (GRCm39) M85K probably benign Het
Rae1 T A 2: 172,854,401 (GRCm39) probably benign Het
Rasal1 A G 5: 120,816,741 (GRCm39) D759G probably benign Het
Rcvrn G A 11: 67,586,246 (GRCm39) G2R probably damaging Het
Robo3 C T 9: 37,334,640 (GRCm39) A597T probably damaging Het
Rsf1 GCG GCGACGGCGCCG 7: 97,229,114 (GRCm39) probably benign Homo
Sdcbp T A 4: 6,378,980 (GRCm39) Y22* probably null Het
Sin3a T C 9: 57,025,360 (GRCm39) F1069L probably damaging Het
Slitrk3 C T 3: 72,957,129 (GRCm39) V548I possibly damaging Het
Tbc1d22a A G 15: 86,275,287 (GRCm39) H403R probably damaging Het
Tbr1 G T 2: 61,635,593 (GRCm39) probably null Het
Tiam2 T A 17: 3,555,985 (GRCm39) D65E probably damaging Het
Tpcn2 A G 7: 144,813,833 (GRCm39) S488P probably benign Het
Trav9-2 T C 14: 53,828,695 (GRCm39) S22P probably damaging Het
Trim34a T A 7: 103,897,069 (GRCm39) N44K probably benign Het
Unc79 C G 12: 103,078,691 (GRCm39) P1619A probably benign Het
Usp22 A T 11: 61,048,042 (GRCm39) V426E probably damaging Het
Vhl A T 6: 113,601,159 (GRCm39) M20L unknown Het
Vmn1r215 G A 13: 23,260,064 (GRCm39) A35T probably benign Het
Vmn1r222 G A 13: 23,416,602 (GRCm39) L204F possibly damaging Het
Zfp871 A T 17: 32,994,829 (GRCm39) H115Q probably damaging Het
Zpr1 T A 9: 46,189,640 (GRCm39) F340L probably benign 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
IGL02601:Anln APN 9 22,249,331 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- ACCAGGCTGTTCTTGCACAC -3'
(R):5'- ACAGTGGCATCCATAACCTATC -3'

Sequencing Primer
(F):5'- GCACACTATTTTGCTTTGCAGATGAG -3'
(R):5'- CTCTGTGCAGCATGATCTACAGAG -3'
Posted On 2016-05-10