Incidental Mutation 'IGL01772:Vil1'
| ID |
153690 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vil1
|
| Ensembl Gene |
ENSMUSG00000026175 |
| Gene Name |
villin 1 |
| Synonyms |
Villin |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
IGL01772
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74448543-74474719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74454278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 14
(I14V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027366]
|
| AlphaFold |
Q62468 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027366
AA Change: I14V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: I14V
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
17 |
114 |
2.93e-29 |
SMART |
|
GEL
|
135 |
229 |
1.33e-18 |
SMART |
|
GEL
|
251 |
349 |
5.85e-29 |
SMART |
|
GEL
|
398 |
495 |
1.44e-28 |
SMART |
|
GEL
|
515 |
601 |
7.31e-30 |
SMART |
|
GEL
|
620 |
714 |
1.36e-29 |
SMART |
|
VHP
|
792 |
827 |
1.77e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159749
|
| SMART Domains |
Protein: ENSMUSP00000123786
Gene: ENSMUSG00000026175
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
37 |
131 |
1.33e-18 |
SMART |
|
GEL
|
153 |
248 |
6.68e-24 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants do not exhibit gross abnormalities or apparent defects of microvilli morphogenesis, however in one line, an increased sensitivity to colitis induced by dextran sulfate was observed. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(8) : Targeted(4) Gene trapped(4)
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
C |
T |
11: 58,313,710 (GRCm39) |
P113S |
probably benign |
Het |
| Ano2 |
T |
C |
6: 126,013,821 (GRCm39) |
Y881H |
probably damaging |
Het |
| Coro2b |
G |
T |
9: 62,333,090 (GRCm39) |
P131T |
probably damaging |
Het |
| Glra3 |
A |
G |
8: 56,542,090 (GRCm39) |
I278V |
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,507,890 (GRCm39) |
D392G |
probably benign |
Het |
| Ifrd2 |
A |
G |
9: 107,469,331 (GRCm39) |
S360G |
probably benign |
Het |
| Kdelr3 |
A |
T |
15: 79,407,121 (GRCm39) |
|
probably benign |
Het |
| Mtdh |
T |
A |
15: 34,140,027 (GRCm39) |
S345R |
probably damaging |
Het |
| Mtrex |
A |
G |
13: 113,027,859 (GRCm39) |
F667S |
probably benign |
Het |
| Ncor1 |
G |
A |
11: 62,240,173 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,281,075 (GRCm39) |
V110D |
probably damaging |
Het |
| Nlk |
T |
A |
11: 78,480,201 (GRCm39) |
H256L |
probably damaging |
Het |
| Or52w1 |
A |
T |
7: 105,017,641 (GRCm39) |
D36V |
probably benign |
Het |
| Or52z13 |
T |
A |
7: 103,247,120 (GRCm39) |
I199N |
probably benign |
Het |
| Or8c16 |
A |
T |
9: 38,130,905 (GRCm39) |
Y262F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,946,637 (GRCm39) |
|
probably benign |
Het |
| Ptprn |
A |
G |
1: 75,228,914 (GRCm39) |
Y834H |
probably damaging |
Het |
| Rbfox3 |
G |
T |
11: 118,387,797 (GRCm39) |
A241E |
probably damaging |
Het |
| Tarbp1 |
G |
A |
8: 127,173,970 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,598,055 (GRCm39) |
D19619E |
probably damaging |
Het |
| Unc13d |
C |
A |
11: 115,967,358 (GRCm39) |
E45D |
possibly damaging |
Het |
|
| Other mutations in Vil1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Vil1
|
APN |
1 |
74,463,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00703:Vil1
|
APN |
1 |
74,463,119 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01011:Vil1
|
APN |
1 |
74,474,046 (GRCm39) |
splice site |
probably null |
|
|
IGL01314:Vil1
|
APN |
1 |
74,467,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02378:Vil1
|
APN |
1 |
74,469,850 (GRCm39) |
splice site |
probably null |
|
|
IGL02517:Vil1
|
APN |
1 |
74,465,851 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02955:Vil1
|
APN |
1 |
74,457,682 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03036:Vil1
|
APN |
1 |
74,458,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Vil1
|
UTSW |
1 |
74,460,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0104:Vil1
|
UTSW |
1 |
74,457,525 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0241:Vil1
|
UTSW |
1 |
74,465,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Vil1
|
UTSW |
1 |
74,465,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Vil1
|
UTSW |
1 |
74,460,499 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1329:Vil1
|
UTSW |
1 |
74,466,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1824:Vil1
|
UTSW |
1 |
74,457,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1916:Vil1
|
UTSW |
1 |
74,457,684 (GRCm39) |
missense |
probably benign |
|
|
R2188:Vil1
|
UTSW |
1 |
74,466,724 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2216:Vil1
|
UTSW |
1 |
74,464,838 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3808:Vil1
|
UTSW |
1 |
74,466,772 (GRCm39) |
missense |
probably benign |
|
|
R3939:Vil1
|
UTSW |
1 |
74,471,574 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4288:Vil1
|
UTSW |
1 |
74,457,684 (GRCm39) |
missense |
probably benign |
|
|
R4648:Vil1
|
UTSW |
1 |
74,471,457 (GRCm39) |
missense |
probably benign |
|
|
R4748:Vil1
|
UTSW |
1 |
74,460,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5333:Vil1
|
UTSW |
1 |
74,471,549 (GRCm39) |
missense |
probably benign |
|
|
R5429:Vil1
|
UTSW |
1 |
74,471,490 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5973:Vil1
|
UTSW |
1 |
74,455,192 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6007:Vil1
|
UTSW |
1 |
74,459,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Vil1
|
UTSW |
1 |
74,471,498 (GRCm39) |
missense |
probably benign |
|
|
R6306:Vil1
|
UTSW |
1 |
74,460,470 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6989:Vil1
|
UTSW |
1 |
74,463,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7112:Vil1
|
UTSW |
1 |
74,455,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7320:Vil1
|
UTSW |
1 |
74,457,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7481:Vil1
|
UTSW |
1 |
74,459,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Vil1
|
UTSW |
1 |
74,465,891 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7709:Vil1
|
UTSW |
1 |
74,465,754 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7791:Vil1
|
UTSW |
1 |
74,467,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8159:Vil1
|
UTSW |
1 |
74,463,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8190:Vil1
|
UTSW |
1 |
74,474,052 (GRCm39) |
nonsense |
probably null |
|
|
R9650:Vil1
|
UTSW |
1 |
74,464,775 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9679:Vil1
|
UTSW |
1 |
74,469,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9734:Vil1
|
UTSW |
1 |
74,454,309 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Z1176:Vil1
|
UTSW |
1 |
74,467,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Vil1
|
UTSW |
1 |
74,460,589 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Vil1
|
UTSW |
1 |
74,454,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation