Incidental Mutation 'R5285:Avil'
| ID |
403002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Avil
|
| Ensembl Gene |
ENSMUSG00000025432 |
| Gene Name |
advillin |
| Synonyms |
DOC6 |
| MMRRC Submission |
042869-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R5285 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
126836578-126856863 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126854328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 765
(L765P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026500]
[ENSMUST00000040560]
[ENSMUST00000129173]
[ENSMUST00000152054]
|
| AlphaFold |
O88398 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026500
AA Change: L765P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432
AA Change: L765P
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
52 |
N/A |
INTRINSIC |
|
Pfam:EF_TS
|
115 |
273 |
9.6e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129173
AA Change: L765P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123405
Gene: ENSMUSG00000025432
AA Change: L765P
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA
|
44 |
81 |
1.2e-10 |
PFAM |
|
SCOP:d1efub4
|
101 |
120 |
5e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (65/66) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,435,097 (GRCm39) |
T12A |
probably benign |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Adcy8 |
G |
T |
15: 64,639,706 (GRCm39) |
H685N |
possibly damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,553,752 (GRCm39) |
K539* |
probably null |
Het |
| Ap1m2 |
G |
T |
9: 21,216,933 (GRCm39) |
Y134* |
probably null |
Het |
| Apobr |
A |
G |
7: 126,184,175 (GRCm39) |
|
probably benign |
Het |
| Atl1 |
A |
G |
12: 70,001,273 (GRCm39) |
K345R |
probably benign |
Het |
| Caps2 |
T |
A |
10: 112,044,216 (GRCm39) |
Y472N |
probably benign |
Het |
| Catspere2 |
A |
G |
1: 177,931,454 (GRCm39) |
K458E |
unknown |
Het |
| Cd177 |
A |
T |
7: 24,445,674 (GRCm39) |
S590T |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,233,887 (GRCm39) |
D2223G |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,028,636 (GRCm39) |
T493A |
probably benign |
Het |
| Chek1 |
T |
C |
9: 36,625,748 (GRCm39) |
D299G |
probably benign |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Crhr1 |
A |
T |
11: 104,061,323 (GRCm39) |
I243F |
possibly damaging |
Het |
| Cyp3a11 |
A |
G |
5: 145,791,893 (GRCm39) |
V500A |
probably benign |
Het |
| Dcdc5 |
A |
T |
2: 106,198,500 (GRCm39) |
|
noncoding transcript |
Het |
| Ergic3 |
A |
G |
2: 155,859,957 (GRCm39) |
|
probably benign |
Het |
| Fabp3-ps1 |
T |
G |
10: 86,568,066 (GRCm39) |
|
probably benign |
Het |
| Gm6445 |
C |
A |
19: 9,585,032 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2d |
C |
A |
7: 98,107,474 (GRCm39) |
|
probably null |
Het |
| Ighv1-19-1 |
C |
A |
12: 114,667,872 (GRCm39) |
|
probably benign |
Het |
| Igkv2-116 |
G |
T |
6: 68,129,463 (GRCm39) |
R75L |
probably benign |
Het |
| Inhbc |
C |
A |
10: 127,193,269 (GRCm39) |
R249L |
probably damaging |
Het |
| Lrrn2 |
T |
A |
1: 132,866,983 (GRCm39) |
S683T |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,809,011 (GRCm39) |
V227A |
probably benign |
Het |
| Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,579,350 (GRCm39) |
N587S |
probably benign |
Het |
| Mug1 |
G |
A |
6: 121,818,066 (GRCm39) |
E126K |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,197,982 (GRCm39) |
S1204P |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,283,475 (GRCm39) |
I413T |
probably damaging |
Het |
| Nipa2 |
A |
T |
7: 55,582,760 (GRCm39) |
Y328* |
probably null |
Het |
| Or1e25 |
T |
A |
11: 73,493,767 (GRCm39) |
Y120* |
probably null |
Het |
| Or51a24 |
A |
G |
7: 103,733,340 (GRCm39) |
*316R |
probably null |
Het |
| Or52s1 |
C |
T |
7: 102,862,005 (GRCm39) |
R302* |
probably null |
Het |
| Or5k15 |
A |
T |
16: 58,710,471 (GRCm39) |
Y37* |
probably null |
Het |
| Or5k3 |
T |
C |
16: 58,969,633 (GRCm39) |
L140P |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,019,985 (GRCm39) |
D155G |
probably damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,937,527 (GRCm39) |
T1176I |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,114,973 (GRCm39) |
|
probably benign |
Het |
| Prl8a2 |
G |
A |
13: 27,534,116 (GRCm39) |
|
probably null |
Het |
| Prmt7 |
G |
A |
8: 106,974,991 (GRCm39) |
R529Q |
probably benign |
Het |
| Psg17 |
T |
A |
7: 18,554,126 (GRCm39) |
L41F |
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,663,726 (GRCm39) |
R73G |
probably benign |
Het |
| Rhpn2 |
G |
T |
7: 35,080,990 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sarm1 |
A |
G |
11: 78,388,265 (GRCm39) |
F7S |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,778,674 (GRCm39) |
|
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,294,686 (GRCm39) |
K99R |
probably benign |
Het |
| Sorbs1 |
G |
A |
19: 40,310,334 (GRCm39) |
T1018I |
probably damaging |
Het |
| Spns2 |
G |
A |
11: 72,380,305 (GRCm39) |
A106V |
possibly damaging |
Het |
| Stab1 |
A |
G |
14: 30,865,433 (GRCm39) |
|
probably benign |
Het |
| Steap3 |
T |
C |
1: 120,169,610 (GRCm39) |
D191G |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,674,019 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
A |
T |
2: 178,034,191 (GRCm39) |
|
probably null |
Het |
| Tm6sf1 |
A |
G |
7: 81,509,200 (GRCm39) |
S2G |
possibly damaging |
Het |
| Usp24 |
T |
A |
4: 106,264,230 (GRCm39) |
D1720E |
probably benign |
Het |
| Vmn1r200 |
G |
A |
13: 22,579,457 (GRCm39) |
E78K |
possibly damaging |
Het |
| Vmn2r120 |
A |
G |
17: 57,843,703 (GRCm39) |
L47P |
probably damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,365,442 (GRCm39) |
N544S |
probably damaging |
Het |
| Vwa1 |
C |
T |
4: 155,855,352 (GRCm39) |
A254T |
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,775,422 (GRCm39) |
R488Q |
probably damaging |
Het |
| Zfp940 |
A |
T |
7: 29,545,025 (GRCm39) |
L294H |
probably damaging |
Het |
|
| Other mutations in Avil |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
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'- AGGTTTGTCAGGCATCCAGG -3'
(R):5'- AGTTCCTGCAGCATGTTGG -3'
Sequencing Primer
(F):5'- GGACCACCGTTCTGAAAGATGTTC -3'
(R):5'- GCAGCATGTTGGATCTGCTCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation