Incidental Mutation 'R6665:Avil'
ID 526940
Institutional Source Beutler Lab
Gene Symbol Avil
Ensembl Gene ENSMUSG00000025432
Gene Name advillin
Synonyms DOC6
MMRRC Submission 044785-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R6665 (G1)
Quality Score 119.008
Status Validated
Chromosome 10
Chromosomal Location 126836578-126856863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126856394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 808 (K808E)
Ref Sequence ENSEMBL: ENSMUSP00000123405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026500] [ENSMUST00000040560] [ENSMUST00000120547] [ENSMUST00000129173] [ENSMUST00000152054]
AlphaFold O88398
Predicted Effect probably damaging
Transcript: ENSMUST00000026500
AA Change: K808E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432
AA Change: K808E

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: ENSMUST00000040560
SMART Domains Protein: ENSMUSP00000042134
Gene: ENSMUSG00000040521

DomainStartEndE-ValueType
low complexity region 38 52 N/A INTRINSIC
Pfam:EF_TS 115 273 9.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120547
SMART Domains Protein: ENSMUSP00000113446
Gene: ENSMUSG00000040521

DomainStartEndE-ValueType
Pfam:UBA 44 81 3.4e-10 PFAM
Pfam:EF_TS 101 192 1.3e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129173
AA Change: K808E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123405
Gene: ENSMUSG00000025432
AA Change: K808E

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 noncoding transcript
Transcript: ENSMUST00000138556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140564
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145476
Meta Mutation Damage Score 0.5499 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 100% (34/34)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 A G 9: 30,815,775 (GRCm39) probably null Het
Adamts16 T G 13: 70,927,689 (GRCm39) K517Q probably damaging Het
Atp9b A C 18: 80,960,950 (GRCm39) V87G probably benign Het
Bin2 T C 15: 100,554,676 (GRCm39) E49G probably damaging Het
Ccdc146 T C 5: 21,508,092 (GRCm39) Y652C probably damaging Het
Cd6 T C 19: 10,768,367 (GRCm39) N541D probably benign Het
Col28a1 A G 6: 8,062,277 (GRCm39) V671A probably benign Het
Dock6 C T 9: 21,751,208 (GRCm39) C355Y probably damaging Het
Dsc2 A G 18: 20,183,205 (GRCm39) F71S probably damaging Het
Dusp8 G A 7: 141,643,842 (GRCm39) P24S probably damaging Het
Dysf A G 6: 84,107,098 (GRCm39) Y1151C probably benign Het
Fhip2b A T 14: 70,823,078 (GRCm39) L659Q probably damaging Het
Frem2 T C 3: 53,562,077 (GRCm39) Y810C probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hexb T C 13: 97,315,893 (GRCm39) N380D probably benign Het
Ice1 T C 13: 70,751,592 (GRCm39) E1498G possibly damaging Het
Lrif1 T A 3: 106,642,659 (GRCm39) probably null Het
Myo9a G T 9: 59,779,155 (GRCm39) G1637V probably benign Het
Myod1 A T 7: 46,026,281 (GRCm39) H62L probably damaging Het
Myoz3 A C 18: 60,709,495 (GRCm39) L222R probably damaging Het
Naca T A 10: 127,884,227 (GRCm39) N2180K probably damaging Het
Or6c76 T C 10: 129,612,116 (GRCm39) F111S probably damaging Het
Pik3cb A G 9: 98,955,702 (GRCm39) V405A probably benign Het
Prkdc T C 16: 15,603,914 (GRCm39) probably null Het
Rab32 T C 10: 10,433,846 (GRCm39) probably benign Het
Serpinb10 A C 1: 107,474,597 (GRCm39) N253T possibly damaging Het
Slc13a5 C T 11: 72,151,186 (GRCm39) V131I probably damaging Het
Slc25a40 A G 5: 8,502,788 (GRCm39) N290S probably benign Het
Slc6a6 T C 6: 91,703,020 (GRCm39) V131A probably benign Het
Spef2 A T 15: 9,600,604 (GRCm39) probably null Het
Stxbp2 A G 8: 3,691,998 (GRCm39) M547V probably benign Het
Tmem247 A T 17: 87,225,998 (GRCm39) Q146L probably benign Het
Vmn2r67 T C 7: 84,785,900 (GRCm39) I702V probably benign Het
Zmynd15 T C 11: 70,355,636 (GRCm39) S436P 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
R5618:Avil UTSW 10 126,846,446 (GRCm39) missense possibly damaging 0.79
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
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'- TATGGTTCTCGGGCTCAGTC -3'
(R):5'- TGACTTCGAAAGGCAGTCAG -3'

Sequencing Primer
(F):5'- AAGCTTGTGTGCCCAGG -3'
(R):5'- CTGATGTTGGCACTGCTA -3'
Posted On 2018-07-23