Incidental Mutation 'IGL01893:Avil'
ID179311
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Avil
Ensembl Gene ENSMUSG00000025432
Gene Nameadvillin
SynonymsDOC6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.168) question?
Stock #IGL01893
Quality Score
Status
Chromosome10
Chromosomal Location127000709-127020994 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 127020546 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 815 (E815K)
Ref Sequence ENSEMBL: ENSMUSP00000123405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026500] [ENSMUST00000040560] [ENSMUST00000120547] [ENSMUST00000129173] [ENSMUST00000152054]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026500
AA Change: E815K

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432
AA Change: E815K

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 possibly damaging
Transcript: ENSMUST00000129173
AA Change: E815K

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123405
Gene: ENSMUSG00000025432
AA Change: E815K

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 noncoding transcript
Transcript: ENSMUST00000145476
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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T A 3: 116,788,549 I275F probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Car9 T A 4: 43,510,252 I278N probably damaging Het
Cast T A 13: 74,727,289 K480* probably null Het
Cenpj A G 14: 56,553,474 F373L probably damaging Het
Cspp1 T C 1: 10,134,141 probably null Het
Diaph3 G A 14: 86,918,852 T675I possibly damaging Het
Dip2b A T 15: 100,171,220 probably benign Het
Dnah1 T C 14: 31,266,470 D3425G probably damaging Het
Dolk A G 2: 30,285,914 Y40H probably benign Het
Drosha T C 15: 12,866,650 probably benign Het
Dusp15 A G 2: 152,949,036 probably null Het
Edrf1 T C 7: 133,657,102 F770L probably benign Het
Gabra1 T C 11: 42,133,759 K363R possibly damaging Het
Glipr1l1 A C 10: 112,076,169 T203P probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H2-Q10 T C 17: 35,473,271 S270P probably damaging Het
Hipk2 A T 6: 38,818,395 M313K probably benign Het
Htt T A 5: 34,876,830 I1920N probably damaging Het
Lsr A T 7: 30,962,232 V210E possibly damaging Het
Mbtd1 A T 11: 93,921,412 I181L probably null Het
Mettl16 A T 11: 74,805,271 T273S possibly damaging Het
Mlst8 T C 17: 24,477,987 N74D probably benign Het
Nek9 A G 12: 85,336,400 I102T probably damaging Het
Nme7 C T 1: 164,345,281 A187V probably damaging Het
Nphp1 A T 2: 127,769,644 W261R probably damaging Het
Olfr1148 G T 2: 87,833,863 G275* probably null Het
Olfr1306 A T 2: 111,912,244 S229T possibly damaging Het
Olfr90 A G 17: 37,085,868 L99P probably damaging Het
Orc6 A G 8: 85,307,643 D165G probably damaging Het
Ovca2 A G 11: 75,178,307 S89P probably benign Het
Pcdhb12 T G 18: 37,437,210 S470A probably benign Het
Phactr2 T C 10: 13,247,188 T397A probably benign Het
Pms2 T C 5: 143,923,519 L50P probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Serpinb11 C A 1: 107,377,657 S254R probably benign Het
Serpinb11 C A 1: 107,377,658 Q255K probably benign Het
Skap2 T C 6: 51,874,576 T79A probably damaging Het
Tbx19 A T 1: 165,140,198 S327T possibly damaging Het
Themis3 A G 17: 66,559,627 L206P possibly damaging Het
Tmem132c T A 5: 127,463,029 L373Q possibly damaging Het
Unc13c G T 9: 73,693,366 N1365K probably benign Het
Vmn2r106 A T 17: 20,277,468 M503K probably benign Het
Vmn2r33 A G 7: 7,563,777 I112T probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13a A C 19: 16,663,775 W2328G probably damaging Het
Other mutations in Avil
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Avil APN 10 127017034 critical splice donor site probably null
IGL02127:Avil APN 10 127011826 missense probably benign 0.13
IGL02425:Avil APN 10 127018447 missense probably benign
IGL02458:Avil APN 10 127016353 missense probably benign 0.00
IGL02707:Avil APN 10 127006562 missense probably damaging 1.00
IGL02805:Avil APN 10 127007617 missense possibly damaging 0.79
IGL02836:Avil APN 10 127008995 missense probably damaging 1.00
IGL02961:Avil APN 10 127008306 missense probably benign 0.00
IGL03025:Avil APN 10 127013577 missense probably benign 0.19
IGL03083:Avil APN 10 127016324 missense probably benign 0.31
IGL03345:Avil APN 10 127008957 unclassified probably benign
IGL03365:Avil APN 10 127010983 missense probably damaging 1.00
R0109:Avil UTSW 10 127013644 missense probably benign
R0109:Avil UTSW 10 127013644 missense probably benign
R1159:Avil UTSW 10 127011790 missense possibly damaging 0.94
R1631:Avil UTSW 10 127010625 unclassified probably null
R2026:Avil UTSW 10 127011873 missense probably damaging 1.00
R3694:Avil UTSW 10 127008330 missense probably damaging 0.98
R3948:Avil UTSW 10 127014205 missense probably benign 0.00
R4165:Avil UTSW 10 127006627 nonsense probably null
R4978:Avil UTSW 10 127018396 missense probably benign 0.09
R5159:Avil UTSW 10 127020448 critical splice acceptor site probably null
R5254:Avil UTSW 10 127011761 missense probably benign 0.01
R5285:Avil UTSW 10 127018459 missense probably damaging 0.97
R5618:Avil UTSW 10 127010577 missense possibly damaging 0.79
R5682:Avil UTSW 10 127014104 missense probably damaging 1.00
R5786:Avil UTSW 10 127016499 critical splice donor site probably null
R5819:Avil UTSW 10 127009998 missense probably damaging 1.00
R6149:Avil UTSW 10 127006582 missense probably benign 0.25
R6631:Avil UTSW 10 127007749 missense possibly damaging 0.52
R6665:Avil UTSW 10 127020525 missense probably damaging 1.00
R6745:Avil UTSW 10 127014119 missense probably benign 0.00
R6804:Avil UTSW 10 127008306 nonsense probably null
R6838:Avil UTSW 10 127013562 missense probably benign
R7481:Avil UTSW 10 127007591 missense probably benign 0.33
Posted On2014-05-07