Incidental Mutation 'R5682:Avil'
ID 443138
Institutional Source Beutler Lab
Gene Symbol Avil
Ensembl Gene ENSMUSG00000025432
Gene Name advillin
Synonyms DOC6
MMRRC Submission 043318-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R5682 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 126836578-126856863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 126849973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 608 (Q608P)
Ref Sequence ENSEMBL: ENSMUSP00000123405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026500] [ENSMUST00000129173] [ENSMUST00000152054]
AlphaFold O88398
Predicted Effect probably damaging
Transcript: ENSMUST00000026500
AA Change: Q608P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432
AA Change: Q608P

DomainStartEndE-ValueType
GEL 14 111 9.44e-24 SMART
GEL 132 226 8.89e-20 SMART
GEL 253 346 1.19e-29 SMART
GEL 395 492 2.07e-29 SMART
GEL 512 598 4.01e-27 SMART
GEL 617 711 2.81e-31 SMART
VHP 784 819 1.31e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129173
AA Change: Q608P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123405
Gene: ENSMUSG00000025432
AA Change: Q608P

DomainStartEndE-ValueType
GEL 14 111 9.44e-24 SMART
GEL 132 226 8.89e-20 SMART
GEL 253 346 1.19e-29 SMART
GEL 395 492 2.07e-29 SMART
GEL 512 598 4.01e-27 SMART
GEL 617 711 2.81e-31 SMART
VHP 784 819 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152054
SMART Domains Protein: ENSMUSP00000122669
Gene: ENSMUSG00000040521

DomainStartEndE-ValueType
Pfam:UBA 44 81 1.2e-10 PFAM
SCOP:d1efub4 101 120 5e-4 SMART
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes null mice show partial embryonic lethality before E10.5, but surviving mice are fertile and exhibit no abnormal behavior into adult. The regenerative axon growth and remodeling of sensory nerves are abnormal in homozygous null mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,283,723 (GRCm39) S7T probably benign Het
Acot4 G A 12: 84,085,576 (GRCm39) V98M probably damaging Het
Acsm2 A T 7: 119,162,774 (GRCm39) N41I probably benign Het
Adamtsl3 A T 7: 82,255,758 (GRCm39) N1590I probably damaging Het
Ank3 G A 10: 69,729,347 (GRCm39) G714R probably damaging Het
Armh4 T C 14: 49,989,043 (GRCm39) D642G probably damaging Het
Ash1l G A 3: 88,914,914 (GRCm39) R1848Q probably damaging Het
Atp1a4 A T 1: 172,081,730 (GRCm39) Y141N probably damaging Het
Atxn3 A T 12: 101,924,406 (GRCm39) I1N probably damaging Het
Axin1 T C 17: 26,406,775 (GRCm39) V456A probably benign Het
Cacna1g A G 11: 94,349,940 (GRCm39) L635P probably damaging Het
Card11 G A 5: 140,888,666 (GRCm39) Q231* probably null Het
Ccdc162 G A 10: 41,432,799 (GRCm39) R500* probably null Het
Cdh24 T C 14: 54,874,805 (GRCm39) D400G probably damaging Het
Cep112 T C 11: 108,361,138 (GRCm39) L164P probably damaging Het
Corin A G 5: 72,579,497 (GRCm39) S224P possibly damaging Het
Csgalnact2 T C 6: 118,097,953 (GRCm39) Y371C probably damaging Het
Cspg4 A T 9: 56,793,480 (GRCm39) E405V probably benign Het
Ctnna3 T A 10: 64,709,085 (GRCm39) M708K probably damaging Het
Cyp7a1 T A 4: 6,268,429 (GRCm39) Y432F probably benign Het
Dcaf11 T A 14: 55,800,883 (GRCm39) V113E probably damaging Het
Dhx29 T C 13: 113,067,383 (GRCm39) I88T probably damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Elmo2 A G 2: 165,139,330 (GRCm39) F406L probably damaging Het
Eps15l1 G A 8: 73,125,592 (GRCm39) Q648* probably null Het
Fam171a1 G A 2: 3,227,126 (GRCm39) R753Q probably damaging Het
Figla T A 6: 85,995,604 (GRCm39) V86E probably damaging Het
Galnt7 C A 8: 58,036,967 (GRCm39) E141* probably null Het
Garnl3 A G 2: 32,944,185 (GRCm39) Y125H probably damaging Het
Gnb5 A G 9: 75,234,523 (GRCm39) D74G probably damaging Het
Grk1 A T 8: 13,464,351 (GRCm39) I408F possibly damaging Het
Has1 A T 17: 18,064,425 (GRCm39) W405R possibly damaging Het
Hdac5 A G 11: 102,104,749 (GRCm39) probably benign Het
Helq T A 5: 100,933,170 (GRCm39) M555L probably benign Het
Hipk2 T C 6: 38,714,408 (GRCm39) N556S possibly damaging Het
Htr7 C A 19: 35,947,271 (GRCm39) A248S probably damaging Het
Ing3 T C 6: 21,968,949 (GRCm39) S144P probably damaging Het
Itgb1 G A 8: 129,453,549 (GRCm39) probably null Het
Kcnh4 A T 11: 100,640,628 (GRCm39) M466K possibly damaging Het
Krit1 T A 5: 3,880,737 (GRCm39) N565K probably damaging Het
Limk1 A C 5: 134,694,059 (GRCm39) probably null Het
Lrif1 T C 3: 106,639,884 (GRCm39) I323T possibly damaging Het
Macf1 T C 4: 123,328,552 (GRCm39) E1811G probably damaging Het
Mctp2 A C 7: 71,895,207 (GRCm39) probably null Het
Mmp21 A G 7: 133,276,358 (GRCm39) I495T probably benign Het
Mpz A T 1: 170,986,463 (GRCm39) T126S possibly damaging Het
Napsa A G 7: 44,234,768 (GRCm39) Y301C possibly damaging Het
Ncbp1 T A 4: 46,170,474 (GRCm39) probably benign Het
Nup160 A G 2: 90,510,155 (GRCm39) E47G probably benign Het
Or8b56 A G 9: 38,739,424 (GRCm39) I146V probably benign Het
Pcdha11 A G 18: 37,144,502 (GRCm39) K198E probably damaging Het
Pcdha3 A G 18: 37,081,040 (GRCm39) D594G probably damaging Het
Pdcd5 G A 7: 35,346,613 (GRCm39) probably benign Het
Pdhx A T 2: 102,865,685 (GRCm39) S166T probably benign Het
Pigc A G 1: 161,798,516 (GRCm39) Y166C probably damaging Het
Prkch C T 12: 73,744,724 (GRCm39) H246Y probably damaging Het
Ptk2 A T 15: 73,134,413 (GRCm39) L562* probably null Het
Rab3ip C T 10: 116,743,008 (GRCm39) W439* probably null Het
Rasef T A 4: 73,659,208 (GRCm39) R435* probably null Het
Rnf103 C T 6: 71,485,708 (GRCm39) probably benign Het
Rtel1 T C 2: 180,991,765 (GRCm39) F388L probably benign Het
Sds A C 5: 120,621,784 (GRCm39) S309R possibly damaging Het
Sgip1 T A 4: 102,824,847 (GRCm39) D736E possibly damaging Het
Sgms2 A G 3: 131,118,611 (GRCm39) Y291H probably damaging Het
Sgsm3 A G 15: 80,895,661 (GRCm39) probably null Het
Siglec1 T A 2: 130,925,930 (GRCm39) I259F probably damaging Het
Sik2 G A 9: 50,828,382 (GRCm39) P220L probably damaging Het
Slc29a3 A G 10: 60,551,991 (GRCm39) V351A probably benign Het
Slc36a3 A G 11: 55,016,489 (GRCm39) S369P probably benign Het
Srgap1 A T 10: 121,640,919 (GRCm39) M649K probably damaging Het
Thnsl1 A G 2: 21,216,879 (GRCm39) E211G possibly damaging Het
Tmprss9 A G 10: 80,733,207 (GRCm39) probably null Het
Tpgs1 G A 10: 79,511,421 (GRCm39) V188M probably damaging Het
Vmn1r201 G T 13: 22,659,355 (GRCm39) V190F probably damaging Het
Vmn1r64 A T 7: 5,886,622 (GRCm39) L307Q possibly damaging Het
Wbp11 T C 6: 136,791,252 (GRCm39) probably benign Het
Wdr35 A G 12: 9,031,125 (GRCm39) Y134C probably damaging Het
Zan G T 5: 137,412,521 (GRCm39) C3263* probably null Het
Zc3h12c G T 9: 52,037,876 (GRCm39) D301E probably damaging Het
Zfp365 A C 10: 67,745,637 (GRCm39) L47R probably damaging Het
Zmym6 C T 4: 126,998,200 (GRCm39) P412L probably damaging Het
Other mutations in Avil
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Avil APN 10 126,852,903 (GRCm39) critical splice donor site probably null
IGL01893:Avil APN 10 126,856,415 (GRCm39) missense possibly damaging 0.73
IGL02127:Avil APN 10 126,847,695 (GRCm39) missense probably benign 0.13
IGL02425:Avil APN 10 126,854,316 (GRCm39) missense probably benign
IGL02458:Avil APN 10 126,852,222 (GRCm39) missense probably benign 0.00
IGL02707:Avil APN 10 126,842,431 (GRCm39) missense probably damaging 1.00
IGL02805:Avil APN 10 126,843,486 (GRCm39) missense possibly damaging 0.79
IGL02836:Avil APN 10 126,844,864 (GRCm39) missense probably damaging 1.00
IGL02961:Avil APN 10 126,844,175 (GRCm39) missense probably benign 0.00
IGL03025:Avil APN 10 126,849,446 (GRCm39) missense probably benign 0.19
IGL03083:Avil APN 10 126,852,193 (GRCm39) missense probably benign 0.31
IGL03345:Avil APN 10 126,844,826 (GRCm39) unclassified probably benign
IGL03365:Avil APN 10 126,846,852 (GRCm39) missense probably damaging 1.00
R0109:Avil UTSW 10 126,849,513 (GRCm39) missense probably benign
R0109:Avil UTSW 10 126,849,513 (GRCm39) missense probably benign
R1159:Avil UTSW 10 126,847,659 (GRCm39) missense possibly damaging 0.94
R1631:Avil UTSW 10 126,846,494 (GRCm39) splice site probably null
R2026:Avil UTSW 10 126,847,742 (GRCm39) missense probably damaging 1.00
R3694:Avil UTSW 10 126,844,199 (GRCm39) missense probably damaging 0.98
R3948:Avil UTSW 10 126,850,074 (GRCm39) missense probably benign 0.00
R4165:Avil UTSW 10 126,842,496 (GRCm39) nonsense probably null
R4978:Avil UTSW 10 126,854,265 (GRCm39) missense probably benign 0.09
R5159:Avil UTSW 10 126,856,317 (GRCm39) critical splice acceptor site probably null
R5254:Avil UTSW 10 126,847,630 (GRCm39) missense probably benign 0.01
R5285:Avil UTSW 10 126,854,328 (GRCm39) missense probably damaging 0.97
R5618:Avil UTSW 10 126,846,446 (GRCm39) missense possibly damaging 0.79
R5786:Avil UTSW 10 126,852,368 (GRCm39) critical splice donor site probably null
R5819:Avil UTSW 10 126,845,867 (GRCm39) missense probably damaging 1.00
R6149:Avil UTSW 10 126,842,451 (GRCm39) missense probably benign 0.25
R6631:Avil UTSW 10 126,843,618 (GRCm39) missense possibly damaging 0.52
R6665:Avil UTSW 10 126,856,394 (GRCm39) missense probably damaging 1.00
R6745:Avil UTSW 10 126,849,988 (GRCm39) missense probably benign 0.00
R6804:Avil UTSW 10 126,844,175 (GRCm39) nonsense probably null
R6838:Avil UTSW 10 126,849,431 (GRCm39) missense probably benign
R7481:Avil UTSW 10 126,843,460 (GRCm39) missense probably benign 0.33
R8213:Avil UTSW 10 126,844,190 (GRCm39) missense probably damaging 0.97
R8349:Avil UTSW 10 126,845,861 (GRCm39) missense probably benign 0.00
R8449:Avil UTSW 10 126,845,861 (GRCm39) missense probably benign 0.00
R8510:Avil UTSW 10 126,845,650 (GRCm39) missense probably benign 0.03
R8849:Avil UTSW 10 126,844,661 (GRCm39) missense possibly damaging 0.91
R8944:Avil UTSW 10 126,846,455 (GRCm39) missense probably damaging 1.00
R9101:Avil UTSW 10 126,852,873 (GRCm39) missense probably benign 0.06
R9176:Avil UTSW 10 126,852,248 (GRCm39) missense probably damaging 1.00
R9733:Avil UTSW 10 126,843,711 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGAGATTCCCTCACAGC -3'
(R):5'- ATCCTGAACTTTGCGGCTG -3'

Sequencing Primer
(F):5'- CTGGTGGCCTAGTCTAACCAAATG -3'
(R):5'- GAACTTTGCGGCTGTGTCTTACC -3'
Posted On 2016-11-09