Incidental Mutation 'R7791:Vil1'
| ID |
599856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vil1
|
| Ensembl Gene |
ENSMUSG00000026175 |
| Gene Name |
villin 1 |
| Synonyms |
Villin |
| MMRRC Submission |
045847-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R7791 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74448543-74474719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74467295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 681
(Y681H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027366]
|
| AlphaFold |
Q62468 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027366
AA Change: Y681H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: Y681H
| 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 |
|
| Meta Mutation Damage Score |
0.9418 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (51/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
T |
13: 59,838,508 (GRCm39) |
M108K |
probably benign |
Het |
| AAdacl4fm3 |
A |
G |
4: 144,430,015 (GRCm39) |
S325P |
probably damaging |
Het |
| Adamts9 |
A |
T |
6: 92,849,366 (GRCm39) |
V1031D |
probably benign |
Het |
| Agap3 |
C |
T |
5: 24,681,411 (GRCm39) |
R122C |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,230,020 (GRCm39) |
|
probably null |
Het |
| Atp1a2 |
T |
A |
1: 172,103,782 (GRCm39) |
I950F |
probably benign |
Het |
| Bahcc1 |
T |
G |
11: 120,159,203 (GRCm39) |
H143Q |
probably damaging |
Het |
| Bcl7b |
T |
A |
5: 135,199,968 (GRCm39) |
D40E |
probably damaging |
Het |
| C9 |
C |
T |
15: 6,519,359 (GRCm39) |
R399C |
possibly damaging |
Het |
| Capn13 |
T |
C |
17: 73,689,883 (GRCm39) |
I43V |
possibly damaging |
Het |
| Ctcf |
A |
G |
8: 106,391,571 (GRCm39) |
T289A |
possibly damaging |
Het |
| Cux2 |
T |
C |
5: 122,005,162 (GRCm39) |
N1008S |
probably benign |
Het |
| Dst |
T |
A |
1: 34,193,673 (GRCm39) |
M294K |
probably damaging |
Het |
| Eml4 |
G |
T |
17: 83,781,135 (GRCm39) |
D778Y |
probably benign |
Het |
| Exoc3l4 |
A |
C |
12: 111,389,974 (GRCm39) |
D183A |
probably damaging |
Het |
| Eya4 |
A |
T |
10: 22,989,825 (GRCm39) |
S511T |
probably damaging |
Het |
| Fbrsl1 |
T |
C |
5: 110,595,885 (GRCm39) |
H50R |
probably benign |
Het |
| Gemin5 |
G |
A |
11: 58,015,819 (GRCm39) |
P1396S |
probably benign |
Het |
| Gnb4 |
A |
G |
3: 32,644,192 (GRCm39) |
F151L |
possibly damaging |
Het |
| Gnptab |
A |
G |
10: 88,276,084 (GRCm39) |
|
probably null |
Het |
| Gpbp1l1 |
T |
A |
4: 116,431,617 (GRCm39) |
W92R |
probably damaging |
Het |
| Gucy1b1 |
A |
T |
3: 81,942,704 (GRCm39) |
Y479* |
probably null |
Het |
| Htr3a |
T |
A |
9: 48,812,875 (GRCm39) |
Q188L |
possibly damaging |
Het |
| Ighv5-9-1 |
A |
G |
12: 113,700,165 (GRCm39) |
F18S |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,471,425 (GRCm39) |
T1004A |
probably damaging |
Het |
| Mansc4 |
G |
A |
6: 146,983,042 (GRCm39) |
L132F |
unknown |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mtor |
G |
T |
4: 148,547,397 (GRCm39) |
R460L |
probably benign |
Het |
| Mtus1 |
A |
T |
8: 41,536,417 (GRCm39) |
F433Y |
possibly damaging |
Het |
| Myoc |
T |
C |
1: 162,476,690 (GRCm39) |
Y465H |
probably damaging |
Het |
| N4bp1 |
A |
G |
8: 87,579,831 (GRCm39) |
V657A |
probably damaging |
Het |
| Ndufv1 |
A |
T |
19: 4,061,533 (GRCm39) |
|
probably null |
Het |
| Nectin1 |
T |
C |
9: 43,703,336 (GRCm39) |
I198T |
probably benign |
Het |
| Or10h1 |
T |
A |
17: 33,418,326 (GRCm39) |
C101* |
probably null |
Het |
| Or8g20 |
T |
C |
9: 39,396,177 (GRCm39) |
D124G |
probably damaging |
Het |
| Padi2 |
C |
T |
4: 140,644,907 (GRCm39) |
T47I |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,784,056 (GRCm39) |
I116N |
probably damaging |
Het |
| Pkdrej |
T |
A |
15: 85,700,132 (GRCm39) |
I1935L |
possibly damaging |
Het |
| Pnpla7 |
C |
A |
2: 24,942,078 (GRCm39) |
A1173D |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,788,304 (GRCm39) |
L593Q |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,372,402 (GRCm39) |
S231P |
possibly damaging |
Het |
| Slc13a2 |
A |
G |
11: 78,312,890 (GRCm39) |
|
probably null |
Het |
| Spdl1 |
A |
G |
11: 34,704,304 (GRCm39) |
S510P |
possibly damaging |
Het |
| Tbxa2r |
G |
T |
10: 81,170,540 (GRCm39) |
*342L |
probably null |
Het |
| Tfrc |
A |
G |
16: 32,437,985 (GRCm39) |
K346R |
probably benign |
Het |
| Tmem52b |
A |
G |
6: 129,489,966 (GRCm39) |
|
probably benign |
Het |
| Tsc1 |
T |
C |
2: 28,571,960 (GRCm39) |
F844L |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,283,544 (GRCm39) |
N158S |
probably benign |
Het |
| Ulk4 |
C |
T |
9: 121,092,734 (GRCm39) |
E168K |
possibly damaging |
Het |
| Vgf |
T |
C |
5: 137,060,885 (GRCm39) |
L349P |
unknown |
Het |
| Zfp654 |
A |
G |
16: 64,603,634 (GRCm39) |
*572R |
probably null |
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 |
|
IGL01772:Vil1
|
APN |
1 |
74,454,278 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCTTTCTAGCTGGGCATC -3'
(R):5'- AAGGCTAGTGGCATCTGGAC -3'
Sequencing Primer
(F):5'- CTAGCTGGGCATCGGGGATG -3'
(R):5'- GGATTGTGCCATGAAGCTACC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation