Incidental Mutation 'R6264:Anln'
ID 506887
Institutional Source Beutler Lab
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 # R6264 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 22243308-22300484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22245413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 186 (N186D)
Ref Sequence ENSEMBL: ENSMUSP00000149721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040912] [ENSMUST00000215006]
AlphaFold Q8K298
Predicted Effect probably benign
Transcript: ENSMUST00000040912
AA Change: N1043D

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000045873
Gene: ENSMUSG00000036777
AA Change: N1043D

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 possibly damaging
Transcript: ENSMUST00000215006
AA Change: N186D

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217010
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,264,824 (GRCm39) Y175H probably damaging Het
Agtpbp1 A T 13: 59,598,114 (GRCm39) V1165D possibly damaging Het
Ahsg A G 16: 22,717,611 (GRCm39) D224G probably benign Het
Akap11 T C 14: 78,749,861 (GRCm39) D842G possibly damaging Het
Aqr A G 2: 113,940,445 (GRCm39) Y1234H probably damaging Het
Ccdc162 A G 10: 41,570,464 (GRCm39) F7S probably benign Het
Cltc T C 11: 86,596,084 (GRCm39) Y1222C probably damaging Het
Coro2a C T 4: 46,562,912 (GRCm39) V81I probably damaging Het
Cpa5 T C 6: 30,613,984 (GRCm39) V42A probably damaging Het
D2hgdh A G 1: 93,754,177 (GRCm39) Y50C probably damaging Het
Ddx6 A G 9: 44,540,049 (GRCm39) N326D probably damaging Het
Dedd2 A G 7: 24,903,215 (GRCm39) L248P possibly damaging Het
Frem3 T A 8: 81,341,832 (GRCm39) I1375N probably damaging Het
Gm12185 T C 11: 48,807,002 (GRCm39) N63S probably benign Het
H2-Aa A G 17: 34,502,172 (GRCm39) S250P probably damaging Het
Hbs1l T C 10: 21,243,656 (GRCm39) S667P possibly damaging Het
Hc T A 2: 34,896,285 (GRCm39) probably null Het
Hoxd4 A T 2: 74,557,729 (GRCm39) Y36F possibly damaging Het
Ifi207 A G 1: 173,555,111 (GRCm39) V864A probably damaging Het
Igsf10 T A 3: 59,235,928 (GRCm39) T1418S possibly damaging Het
Klhl41 T C 2: 69,510,176 (GRCm39) probably null Het
Lman2l T C 1: 36,477,850 (GRCm39) N162S probably damaging Het
Lrr1 T G 12: 69,215,655 (GRCm39) V9G probably damaging Het
Marchf5 T C 19: 37,198,140 (GRCm39) I127T probably damaging Het
Med12l T C 3: 59,163,423 (GRCm39) L1350P probably damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Myh10 T A 11: 68,636,241 (GRCm39) I210N probably benign Het
Myo5c A G 9: 75,182,836 (GRCm39) N825S probably benign Het
Nav3 T C 10: 109,524,694 (GRCm39) T2312A probably damaging Het
Ndrg4 G T 8: 96,436,396 (GRCm39) R208L probably damaging Het
Nell2 G A 15: 95,244,706 (GRCm39) P464S probably damaging Het
Nrxn3 T A 12: 90,299,011 (GRCm39) Y374N probably damaging Het
Oprd1 A C 4: 131,841,365 (GRCm39) C198G possibly damaging Het
Pik3ca T C 3: 32,494,863 (GRCm39) probably null Het
Plin4 T G 17: 56,411,787 (GRCm39) D748A possibly damaging Het
Pramel23 T G 4: 143,425,722 (GRCm39) T74P possibly damaging Het
Prkg2 T G 5: 99,082,223 (GRCm39) K52Q probably benign Het
Ptprk A T 10: 28,442,669 (GRCm39) E890D probably damaging Het
Rab27b T C 18: 70,122,659 (GRCm39) D100G probably damaging Het
Ranbp6 T C 19: 29,790,026 (GRCm39) T109A probably benign Het
Rarb T A 14: 16,818,819 (GRCm38) M17L probably benign Het
Rasgrf2 T C 13: 92,167,293 (GRCm39) H260R probably damaging Het
Rec8 T A 14: 55,856,636 (GRCm39) D109E probably damaging Het
Scd4 C A 19: 44,327,398 (GRCm39) S158* probably null Het
Scn7a T A 2: 66,505,870 (GRCm39) E1673V possibly damaging Het
Sit1 A T 4: 43,482,651 (GRCm39) D169E possibly damaging Het
Slc16a14 G T 1: 84,885,130 (GRCm39) Q470K probably benign Het
Slc43a2 T A 11: 75,457,900 (GRCm39) C392S possibly damaging Het
Smg1 A G 7: 117,765,310 (GRCm39) probably benign Het
Sstr2 A T 11: 113,515,932 (GRCm39) I284F probably damaging Het
Tep1 C T 14: 51,082,970 (GRCm39) V1013M probably damaging Het
Tmem120b T G 5: 123,253,763 (GRCm39) L232R probably damaging Het
Tmem9b C A 7: 109,344,612 (GRCm39) V75F probably damaging Het
Trappc3 A G 4: 126,167,731 (GRCm39) S97G probably damaging Het
Ube3c T C 5: 29,795,829 (GRCm39) F73L probably damaging Het
Vmn1r127 C A 7: 21,052,930 (GRCm39) C286F probably benign Het
Vmn1r44 T C 6: 89,870,652 (GRCm39) S133P probably benign Het
Vps8 C T 16: 21,378,099 (GRCm39) Q635* probably null Het
Vwa8 A G 14: 79,324,252 (GRCm39) E1185G possibly damaging Het
Zfp354c G A 11: 50,706,274 (GRCm39) T267I 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
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
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'- GGCATGACATCACTGACATTTTCC -3'
(R):5'- GGTGCTTGGCTACTTCATGC -3'

Sequencing Primer
(F):5'- GACATCACTGACATTTTCCATATGC -3'
(R):5'- GGTGCTTGGCTACTTCATGCTTATTC -3'
Posted On 2018-03-15