Incidental Mutation 'R5618:Avil'
ID 439652
Institutional Source Beutler Lab
Gene Symbol Avil
Ensembl Gene ENSMUSG00000025432
Gene Name advillin
Synonyms DOC6
MMRRC Submission 043277-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R5618 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 126836578-126856863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126846446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 417 (F417S)
Ref Sequence ENSEMBL: ENSMUSP00000026500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026500] [ENSMUST00000126816] [ENSMUST00000129173] [ENSMUST00000142698] [ENSMUST00000152054]
AlphaFold O88398
Predicted Effect possibly damaging
Transcript: ENSMUST00000026500
AA Change: F417S

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432
AA Change: F417S

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: ENSMUST00000126816
SMART Domains Protein: ENSMUSP00000115018
Gene: ENSMUSG00000025432

DomainStartEndE-ValueType
Pfam:Gelsolin 23 78 4.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129173
AA Change: F417S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123405
Gene: ENSMUSG00000025432
AA Change: F417S

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: ENSMUST00000142698
SMART Domains Protein: ENSMUSP00000117667
Gene: ENSMUSG00000025432

DomainStartEndE-ValueType
SCOP:d1d4xg_ 5 53 2e-17 SMART
PDB:2VIL|A 14 53 2e-14 PDB
Blast:GEL 14 54 7e-24 BLAST
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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik G A 5: 107,696,065 (GRCm39) W167* probably null Het
Acvr1 C T 2: 58,352,955 (GRCm39) R335Q probably damaging Het
Atg7 A G 6: 114,650,660 (GRCm39) D67G probably damaging Het
AW551984 A T 9: 39,502,000 (GRCm39) L702Q probably damaging Het
Bcl7a A T 5: 123,499,265 (GRCm39) N95Y probably damaging Het
Cblb A G 16: 51,973,031 (GRCm39) D454G possibly damaging Het
Cc2d2a A T 5: 43,887,249 (GRCm39) Q1226H probably benign Het
Cct5 A G 15: 31,598,161 (GRCm39) S13P possibly damaging Het
Clca3a1 C T 3: 144,710,738 (GRCm39) E822K probably benign Het
Csgalnact2 A T 6: 118,103,277 (GRCm39) D228E probably damaging Het
Defb12 A T 8: 19,164,814 (GRCm39) M8K possibly damaging Het
Dipk1b T C 2: 26,524,887 (GRCm39) S96P probably damaging Het
Dysf A G 6: 84,083,806 (GRCm39) D736G probably benign Het
Exog G T 9: 119,291,817 (GRCm39) D365Y probably damaging Het
Fam222b T G 11: 78,045,066 (GRCm39) V81G probably benign Het
Fbl A G 7: 27,878,411 (GRCm39) E301G probably damaging Het
Fez1 A T 9: 36,755,228 (GRCm39) N76Y probably damaging Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
H2-Q4 T A 17: 35,598,901 (GRCm39) F57Y probably damaging Het
Ift88 T C 14: 57,718,965 (GRCm39) I650T possibly damaging Het
Kif1b A T 4: 149,354,346 (GRCm39) D231E possibly damaging Het
Lig4 A T 8: 10,022,021 (GRCm39) D586E probably benign Het
Mlc1 C A 15: 88,858,769 (GRCm39) L126F probably damaging Het
Muc4 A G 16: 32,754,253 (GRCm38) T1376A probably benign Het
Ncoa6 A T 2: 155,279,817 (GRCm39) D66E possibly damaging Het
Or6ae1 A G 7: 139,742,185 (GRCm39) V226A probably damaging Het
Or8b44 C T 9: 38,410,036 (GRCm39) Q24* probably null Het
Pard6a T C 8: 106,429,546 (GRCm39) V168A probably damaging Het
Pmpcb A G 5: 21,947,786 (GRCm39) N163S possibly damaging Het
Pramel27 A T 4: 143,577,263 (GRCm39) E15V possibly damaging Het
Prdm2 C T 4: 142,860,107 (GRCm39) C1061Y probably benign Het
Prkdc A G 16: 15,627,476 (GRCm39) Y3378C probably damaging Het
Sema6a A T 18: 47,415,015 (GRCm39) V425E probably damaging Het
Sema7a A T 9: 57,867,566 (GRCm39) E439D possibly damaging Het
Serpinf1 T A 11: 75,301,010 (GRCm39) T402S possibly damaging Het
Sf3a2 T C 10: 80,640,410 (GRCm39) probably benign Het
Skic3 T A 13: 76,321,545 (GRCm39) S1346T probably benign Het
Smchd1 A T 17: 71,762,722 (GRCm39) D172E probably damaging Het
Spag5 T G 11: 78,194,906 (GRCm39) I71S probably benign Het
Spata31d1d G A 13: 59,874,214 (GRCm39) A1107V probably benign Het
Svep1 A C 4: 58,070,537 (GRCm39) S2416R probably benign Het
Tbc1d9 A G 8: 83,969,221 (GRCm39) Y503C probably damaging Het
Tlr9 A T 9: 106,101,938 (GRCm39) I410F possibly damaging Het
Tmem87a C A 2: 120,199,787 (GRCm39) L452F probably benign Het
Tmprss11d A T 5: 86,454,154 (GRCm39) M217K probably benign Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Vmn2r80 T C 10: 78,984,755 (GRCm39) Y36H probably benign Het
Vmn2r87 A T 10: 130,315,817 (GRCm39) F83Y probably damaging Het
Vmp1 C T 11: 86,554,388 (GRCm39) R75H probably benign Het
Wapl T A 14: 34,413,863 (GRCm39) Y242N possibly damaging Het
Zfp473 T A 7: 44,391,156 (GRCm39) D6V probably benign 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
R5682:Avil UTSW 10 126,849,973 (GRCm39) missense probably damaging 1.00
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'- AGTCTTGCAAATGTGACGGG -3'
(R):5'- CCTACCTGCCAGATGTACAAGATG -3'

Sequencing Primer
(F):5'- ATGTGACGGGTCTTCAGGACAC -3'
(R):5'- CCTGCCAGATGTACAAGATGTAATG -3'
Posted On 2016-11-08