Incidental Mutation 'IGL02517:Vil1'
| ID |
296836 |
| 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 # |
IGL02517
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74448543-74474719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74465851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 547
(I547M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027366]
|
| AlphaFold |
Q62468 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027366
AA Change: I547M
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: I547M
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163018
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
T |
G |
4: 49,380,647 (GRCm39) |
M244L |
possibly damaging |
Het |
| Acnat2 |
A |
T |
4: 49,380,639 (GRCm39) |
C228* |
probably null |
Het |
| Adam24 |
T |
C |
8: 41,133,218 (GRCm39) |
S229P |
probably damaging |
Het |
| Alpk3 |
T |
C |
7: 80,727,643 (GRCm39) |
S258P |
probably benign |
Het |
| Atad2b |
A |
G |
12: 5,068,037 (GRCm39) |
T1012A |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,013,017 (GRCm39) |
E1899G |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,953,382 (GRCm39) |
S1034T |
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,901,249 (GRCm39) |
H277L |
possibly damaging |
Het |
| Chrna4 |
C |
T |
2: 180,670,926 (GRCm39) |
V277I |
probably benign |
Het |
| Col3a1 |
A |
G |
1: 45,364,963 (GRCm39) |
|
probably null |
Het |
| Dpep2 |
C |
T |
8: 106,715,388 (GRCm39) |
V369M |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,940,055 (GRCm39) |
N815K |
probably damaging |
Het |
| Enpp3 |
A |
G |
10: 24,685,746 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
C |
11: 77,390,413 (GRCm39) |
V86A |
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,006,926 (GRCm39) |
P1175S |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,293,604 (GRCm39) |
I3517T |
probably benign |
Het |
| Ift172 |
T |
A |
5: 31,410,992 (GRCm39) |
|
probably null |
Het |
| Jmy |
A |
G |
13: 93,589,316 (GRCm39) |
I647T |
probably benign |
Het |
| Kifap3 |
T |
A |
1: 163,653,440 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,670,915 (GRCm39) |
|
probably null |
Het |
| Lipa |
A |
C |
19: 34,471,522 (GRCm39) |
I351S |
possibly damaging |
Het |
| Ltbp2 |
G |
T |
12: 84,832,091 (GRCm39) |
A1631D |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,698,477 (GRCm39) |
I519M |
probably damaging |
Het |
| Mfsd6 |
A |
G |
1: 52,702,436 (GRCm39) |
|
probably benign |
Het |
| Numa1 |
T |
G |
7: 101,661,216 (GRCm39) |
D1846E |
probably benign |
Het |
| Oog3 |
A |
T |
4: 143,885,920 (GRCm39) |
I226K |
probably damaging |
Het |
| Or11h6 |
A |
G |
14: 50,880,658 (GRCm39) |
T301A |
probably benign |
Het |
| Or5an6 |
A |
T |
19: 12,372,265 (GRCm39) |
I213F |
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,209 (GRCm39) |
Y177C |
probably damaging |
Het |
| Or8g53 |
T |
G |
9: 39,683,800 (GRCm39) |
T99P |
probably damaging |
Het |
| Or9s13 |
A |
T |
1: 92,548,183 (GRCm39) |
Y185F |
probably benign |
Het |
| Pkdcc |
T |
C |
17: 83,531,295 (GRCm39) |
S435P |
probably damaging |
Het |
| Ppm1g |
A |
G |
5: 31,365,425 (GRCm39) |
Y70H |
probably damaging |
Het |
| Prcc |
C |
T |
3: 87,776,984 (GRCm39) |
S330N |
probably damaging |
Het |
| Ror2 |
A |
T |
13: 53,272,876 (GRCm39) |
L251Q |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,621,464 (GRCm39) |
L651P |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,805,737 (GRCm39) |
|
probably benign |
Het |
| Slc23a4 |
A |
G |
6: 34,931,917 (GRCm39) |
F186L |
probably benign |
Het |
| Slc30a8 |
A |
T |
15: 52,198,530 (GRCm39) |
D325V |
probably benign |
Het |
| Son |
C |
T |
16: 91,452,099 (GRCm39) |
T282M |
possibly damaging |
Het |
| Tas2r118 |
A |
T |
6: 23,969,891 (GRCm39) |
F57I |
probably damaging |
Het |
| Tcf7l1 |
A |
G |
6: 72,606,966 (GRCm39) |
S447P |
probably benign |
Het |
| Thsd1 |
T |
A |
8: 22,733,454 (GRCm39) |
V167E |
probably damaging |
Het |
| Tle3 |
T |
C |
9: 61,322,063 (GRCm39) |
V696A |
probably damaging |
Het |
| Tmem67 |
A |
T |
4: 12,069,463 (GRCm39) |
I405K |
possibly damaging |
Het |
| Tmem71 |
A |
C |
15: 66,413,466 (GRCm39) |
V202G |
probably benign |
Het |
| Trim6 |
T |
C |
7: 103,881,564 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,721,535 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
C |
2: 120,694,854 (GRCm39) |
C1693G |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,648,195 (GRCm39) |
R4600H |
probably damaging |
Het |
| Vmn1r219 |
A |
T |
13: 23,347,266 (GRCm39) |
I152L |
probably benign |
Het |
| Vmn1r26 |
A |
G |
6: 57,986,127 (GRCm39) |
F21L |
possibly damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,185 (GRCm39) |
K368* |
probably null |
Het |
| Vmn2r68 |
C |
T |
7: 84,871,153 (GRCm39) |
W710* |
probably null |
Het |
| Zfp808 |
T |
A |
13: 62,321,032 (GRCm39) |
*754R |
probably null |
Het |
| Zyg11b |
C |
T |
4: 108,123,515 (GRCm39) |
E151K |
probably 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 |
|
IGL01772:Vil1
|
APN |
1 |
74,454,278 (GRCm39) |
missense |
probably benign |
|
|
IGL02378:Vil1
|
APN |
1 |
74,469,850 (GRCm39) |
splice site |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation