Incidental Mutation 'R7481:Avil'
ID 579823
Institutional Source Beutler Lab
Gene Symbol Avil
Ensembl Gene ENSMUSG00000025432
Gene Name advillin
Synonyms DOC6
MMRRC Submission 045555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R7481 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 126836578-126856863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126843460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 130 (T130I)
Ref Sequence ENSEMBL: ENSMUSP00000026500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026500] [ENSMUST00000126816] [ENSMUST00000129173] [ENSMUST00000142698] [ENSMUST00000152054]
AlphaFold O88398
Predicted Effect probably benign
Transcript: ENSMUST00000026500
AA Change: T130I

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432
AA Change: T130I

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: T130I

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123405
Gene: ENSMUSG00000025432
AA Change: T130I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,575 (GRCm39) F68S unknown Het
Abcb6 A G 1: 75,150,248 (GRCm39) F637L probably damaging Het
Aldh3b3 A G 19: 4,014,549 (GRCm39) M95V probably benign Het
Arhgap45 A T 10: 79,858,134 (GRCm39) H387L possibly damaging Het
Bmal2 G A 6: 146,720,369 (GRCm39) A178T not run Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C3 C A 17: 57,527,136 (GRCm39) W771L probably damaging Het
C6 A G 15: 4,844,357 (GRCm39) I926M Het
Cacna1b G A 2: 24,506,874 (GRCm39) L1903F probably damaging Het
Car3 A T 3: 14,928,632 (GRCm39) M1L probably benign Het
Ccdc175 A G 12: 72,202,398 (GRCm39) I299T probably benign Het
Chd9 C T 8: 91,683,066 (GRCm39) T502I unknown Het
Clec4a1 G A 6: 122,904,998 (GRCm39) C99Y probably damaging Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dmbt1 A T 7: 130,681,241 (GRCm39) probably null Het
Dop1a A T 9: 86,417,985 (GRCm39) K1951N probably damaging Het
Dpf3 A C 12: 83,378,701 (GRCm39) L122R probably damaging Het
Edem3 A T 1: 151,683,973 (GRCm39) S687C probably damaging Het
Edem3 G A 1: 151,683,974 (GRCm39) S687N possibly damaging Het
Fig4 A G 10: 41,106,001 (GRCm39) probably null Het
Fmnl2 A G 2: 52,998,443 (GRCm39) T603A unknown Het
Frmd6 T A 12: 70,933,829 (GRCm39) L249Q probably damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gm6133 A T 18: 78,393,008 (GRCm39) M1L probably benign Het
Gm9195 G A 14: 72,720,116 (GRCm39) T105I probably benign Het
Hk2 G A 6: 82,737,150 (GRCm39) T54I probably benign Het
Jade1 G A 3: 41,559,125 (GRCm39) G402D probably benign Het
Kmt2a T C 9: 44,720,368 (GRCm39) D3873G unknown Het
Map6 A T 7: 98,918,345 (GRCm39) T373S possibly damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mtcl3 G T 10: 29,072,519 (GRCm39) V604L probably damaging Het
Mtus1 T A 8: 41,537,652 (GRCm39) K21N probably damaging Het
Muc5b C T 7: 141,414,908 (GRCm39) T2618I unknown Het
Nbas A G 12: 13,406,960 (GRCm39) I852M probably damaging Het
Or14j1 T A 17: 38,146,289 (GRCm39) M133K probably damaging Het
Or4a70 C T 2: 89,324,636 (GRCm39) V7I probably benign Het
Or5b121 A T 19: 13,507,817 (GRCm39) Q304L probably damaging Het
Or5d39 A G 2: 87,980,105 (GRCm39) I86T probably benign Het
Pank4 A G 4: 155,054,495 (GRCm39) N156S probably damaging Het
Pcdhga8 A G 18: 37,860,990 (GRCm39) E682G probably benign Het
Pde10a C A 17: 9,168,262 (GRCm39) D312E possibly damaging Het
Pkhd1l1 A G 15: 44,376,307 (GRCm39) T990A probably benign Het
Rab11fip1 T C 8: 27,646,609 (GRCm39) T156A probably damaging Het
Rhbdd2 T A 5: 135,665,031 (GRCm39) S121T possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Ryr3 C A 2: 112,508,438 (GRCm39) R3418S probably benign Het
Ryr3 C A 2: 112,508,439 (GRCm39) R3418M possibly damaging Het
Sbno2 G A 10: 79,893,333 (GRCm39) P1323S probably benign Het
Sec24d T C 3: 123,144,412 (GRCm39) C630R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Skp2 A T 15: 9,113,905 (GRCm39) V371E probably damaging Het
Strbp A T 2: 37,490,766 (GRCm39) S496R probably benign Het
Stxbp4 G A 11: 90,485,639 (GRCm39) T236I possibly damaging Het
Terf2 C T 8: 107,799,353 (GRCm39) probably null Het
Thnsl1 A T 2: 21,216,599 (GRCm39) T118S probably benign Het
Tlnrd1 A T 7: 83,531,546 (GRCm39) V295E probably damaging Het
Ttll6 A G 11: 96,045,672 (GRCm39) T630A probably benign Het
Usp9y G T Y: 1,432,180 (GRCm39) A435E probably benign Het
Vil1 A C 1: 74,459,058 (GRCm39) R187S probably damaging Het
Vmn2r31 A T 7: 7,387,579 (GRCm39) V664E possibly damaging Het
Wdr17 T C 8: 55,114,371 (GRCm39) I693M probably benign Het
Wdr82 C T 9: 106,053,865 (GRCm39) T72I probably damaging Het
Zbtb5 A G 4: 44,994,905 (GRCm39) S160P probably benign Het
Zfat G A 15: 68,050,715 (GRCm39) Q769* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp937 T A 2: 150,081,266 (GRCm39) I432K probably benign Het
Zglp1 C T 9: 20,973,903 (GRCm39) S261N 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
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
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'- GTCACAGACCTATCCTTGGG -3'
(R):5'- TCGCCTCGGTTAAAGCTGTC -3'

Sequencing Primer
(F):5'- CAGCAGGTGCAGTATCTGTCTAC -3'
(R):5'- GTCCCAGCTCATTTCCACCTG -3'
Posted On 2019-10-07