Incidental Mutation 'R1999:Anln'
ID 224736
Institutional Source Beutler Lab
Gene Symbol Anln
Ensembl Gene ENSMUSG00000036777
Gene Name anillin, actin binding protein
Synonyms 1110037A17Rik, Scraps, 2900037I21Rik
MMRRC Submission 040009-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R1999 (G1)
Quality Score 198
Status Not validated
Chromosome 9
Chromosomal Location 22243308-22300484 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 22244348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 1122 (*1122Q)
Ref Sequence ENSEMBL: ENSMUSP00000045873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040912] [ENSMUST00000215006]
AlphaFold Q8K298
Predicted Effect probably null
Transcript: ENSMUST00000040912
AA Change: *1122Q
SMART Domains Protein: ENSMUSP00000045873
Gene: ENSMUSG00000036777
AA Change: *1122Q

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 benign
Transcript: ENSMUST00000215006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217010
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
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
Acot1 T A 12: 84,056,527 (GRCm39) W82R probably damaging Het
Adprm A G 11: 66,929,055 (GRCm39) V312A probably benign Het
Ambp C T 4: 63,067,666 (GRCm39) M181I possibly damaging Het
Apc2 C T 10: 80,144,994 (GRCm39) T635I probably damaging Het
Arhgap32 A G 9: 32,027,436 (GRCm39) E2G possibly damaging Het
Bltp1 C T 3: 36,962,360 (GRCm39) T487I probably damaging Het
Ccdc63 C G 5: 122,265,628 (GRCm39) A71P possibly damaging Het
Ceacam5 A T 7: 17,481,172 (GRCm39) K306N possibly damaging Het
Cep295nl T C 11: 118,223,915 (GRCm39) R310G probably damaging Het
Ces2h A G 8: 105,746,977 (GRCm39) T538A probably benign Het
Dab2 T C 15: 6,446,398 (GRCm39) V5A probably benign Het
Diaph3 T A 14: 87,222,302 (GRCm39) D405V possibly damaging Het
Dync1h1 T C 12: 110,632,857 (GRCm39) probably null Het
Epha7 C T 4: 28,938,686 (GRCm39) Q514* probably null Het
Etfb C T 7: 43,103,987 (GRCm39) L141F probably benign Het
Fat1 T C 8: 45,405,430 (GRCm39) V727A probably damaging Het
Flt4 T C 11: 49,536,824 (GRCm39) Y1265H probably benign Het
Fndc3c1 C T X: 105,464,311 (GRCm39) E1276K probably benign Het
Ghdc T C 11: 100,660,018 (GRCm39) E243G probably benign Het
Gpld1 T C 13: 25,146,630 (GRCm39) V225A probably benign Het
Herc1 A G 9: 66,393,360 (GRCm39) T4080A probably benign Het
Hoxa3 A C 6: 52,147,382 (GRCm39) Y290* probably null Het
Htr5a G A 5: 28,055,887 (GRCm39) V293M possibly damaging Het
Itgb7 C T 15: 102,130,553 (GRCm39) V378M probably damaging Het
Kcnq5 T C 1: 21,472,428 (GRCm39) S811G probably null Het
Kcnt1 T A 2: 25,782,372 (GRCm39) H156Q probably benign Het
Kif1a T C 1: 92,988,517 (GRCm39) N507S probably damaging Het
Krt84 T C 15: 101,438,019 (GRCm39) E312G possibly damaging Het
Manea A G 4: 26,327,871 (GRCm39) L390P probably damaging Het
Mboat2 A G 12: 24,996,672 (GRCm39) D225G possibly damaging Het
Medag T A 5: 149,350,717 (GRCm39) F64Y probably damaging Het
Mtmr6 T A 14: 60,530,856 (GRCm39) S331R probably damaging Het
Myh1 A C 11: 67,113,234 (GRCm39) D1873A probably benign Het
Nek9 A G 12: 85,376,677 (GRCm39) W235R probably damaging Het
Nomo1 T C 7: 45,706,151 (GRCm39) S502P possibly damaging Het
Or10g6 A G 9: 39,933,985 (GRCm39) I99V probably benign Het
Or3a1b A G 11: 74,012,406 (GRCm39) Y97C probably benign Het
Or8k30 T A 2: 86,339,089 (GRCm39) Y95* probably null Het
Otof T A 5: 30,546,116 (GRCm39) E427D probably benign Het
Pclo T C 5: 14,727,094 (GRCm39) probably benign Het
Pkhd1l1 T G 15: 44,363,378 (GRCm39) probably null Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rad21l T C 2: 151,496,621 (GRCm39) probably null Het
Rbbp6 T C 7: 122,589,575 (GRCm39) V459A probably damaging Het
Rsbn1l G A 5: 21,107,368 (GRCm39) H549Y probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Senp1 C T 15: 97,956,196 (GRCm39) V408I possibly damaging Het
Slc44a5 T C 3: 153,964,130 (GRCm39) F499L possibly damaging Het
Slitrk3 C T 3: 72,957,297 (GRCm39) V492I probably benign Het
Spef2 T A 15: 9,668,989 (GRCm39) probably null Het
Ssc5d A T 7: 4,945,713 (GRCm39) D915V possibly damaging Het
Stard9 A G 2: 120,523,349 (GRCm39) D668G probably damaging Het
Sycp2l A G 13: 41,271,780 (GRCm39) D73G probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmem8b G A 4: 43,681,300 (GRCm39) C439Y probably damaging Het
Vmn1r195 C G 13: 22,462,934 (GRCm39) L135V possibly damaging Het
Vmn1r74 G T 7: 11,581,302 (GRCm39) V201F probably damaging Het
Vmn2r-ps158 A T 7: 42,696,883 (GRCm39) I647F probably damaging Het
Zfp956 G A 6: 47,940,805 (GRCm39) R388H 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTACGAATGCAAGACAAACTG -3'
(R):5'- TTCCAAGCAAAGGCATTAGGG -3'

Sequencing Primer
(F):5'- CAAGACAAACTGGGTGAAGTTTTAC -3'
(R):5'- CAAAGGCATTAGGGGGCTG -3'
Posted On 2014-08-25