Incidental Mutation 'IGL01011:Vil1'
| ID |
53387 |
| 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: 0.355)
|
| Stock # |
IGL01011
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74448543-74474719 bp(+) (GRCm39) |
| Type of Mutation |
splice site (2843 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 74474046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027366]
[ENSMUST00000044260]
[ENSMUST00000189257]
|
| AlphaFold |
Q62468 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027366
AA Change: S794P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: S794P
| 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 null
Transcript: ENSMUST00000044260
|
| SMART Domains |
Protein: ENSMUSP00000035445
Gene: ENSMUSG00000033364
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH_N
|
1 |
105 |
5.1e-47 |
PFAM |
|
low complexity region
|
182 |
200 |
N/A |
INTRINSIC |
|
Pfam:UCH_1
|
341 |
645 |
3.4e-16 |
PFAM |
|
UIM
|
704 |
723 |
1.33e1 |
SMART |
|
UIM
|
806 |
825 |
1.04e-1 |
SMART |
|
UIM
|
828 |
847 |
2.11e-2 |
SMART |
|
low complexity region
|
893 |
909 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188012
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189257
|
| SMART Domains |
Protein: ENSMUSP00000140670
Gene: ENSMUSG00000033364
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3U12|B
|
4 |
125 |
2e-71 |
PDB |
|
low complexity region
|
182 |
200 |
N/A |
INTRINSIC |
|
Pfam:UCH_1
|
341 |
608 |
4.3e-19 |
PFAM |
|
low complexity region
|
628 |
646 |
N/A |
INTRINSIC |
|
UIM
|
704 |
723 |
1.33e1 |
SMART |
|
UIM
|
806 |
825 |
1.04e-1 |
SMART |
|
UIM
|
828 |
847 |
2.11e-2 |
SMART |
|
low complexity region
|
893 |
909 |
N/A |
INTRINSIC |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,165,529 (GRCm39) |
C282S |
probably damaging |
Het |
| Abca12 |
T |
C |
1: 71,302,791 (GRCm39) |
I2143V |
probably benign |
Het |
| Adgrg6 |
A |
C |
10: 14,285,542 (GRCm39) |
I1148S |
probably damaging |
Het |
| Aox4 |
C |
T |
1: 58,279,934 (GRCm39) |
R517* |
probably null |
Het |
| Arnt2 |
T |
A |
7: 83,935,037 (GRCm39) |
D289V |
probably benign |
Het |
| Atad2b |
A |
G |
12: 5,015,984 (GRCm39) |
N570S |
probably benign |
Het |
| Aven |
G |
A |
2: 112,460,130 (GRCm39) |
D208N |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,416,476 (GRCm39) |
D183G |
possibly damaging |
Het |
| Cd300lf |
A |
G |
11: 115,015,159 (GRCm39) |
S144P |
probably benign |
Het |
| Chd8 |
C |
A |
14: 52,468,989 (GRCm39) |
G543V |
possibly damaging |
Het |
| Chrm2 |
A |
G |
6: 36,501,373 (GRCm39) |
N410S |
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,156,934 (GRCm39) |
I590V |
probably benign |
Het |
| Cnbp |
C |
T |
6: 87,822,682 (GRCm39) |
R27H |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,660,022 (GRCm39) |
V889A |
unknown |
Het |
| Cxcl5 |
T |
C |
5: 90,908,382 (GRCm39) |
|
probably benign |
Het |
| Dennd6a |
G |
T |
14: 26,324,209 (GRCm39) |
V171F |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,289,323 (GRCm39) |
I26V |
probably benign |
Het |
| Dscaml1 |
A |
G |
9: 45,594,970 (GRCm39) |
D691G |
possibly damaging |
Het |
| Etfdh |
A |
T |
3: 79,519,368 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
G |
A |
18: 58,228,312 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
T |
A |
6: 15,438,018 (GRCm39) |
*715R |
probably null |
Het |
| Ftl1 |
A |
T |
7: 45,108,070 (GRCm39) |
D65E |
probably benign |
Het |
| Galm |
A |
G |
17: 80,490,709 (GRCm39) |
T289A |
probably benign |
Het |
| Gm20721 |
A |
G |
2: 174,187,531 (GRCm39) |
D1049G |
probably damaging |
Het |
| Gm28778 |
T |
C |
1: 53,338,277 (GRCm39) |
V47A |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,536,569 (GRCm39) |
S19G |
probably benign |
Het |
| H1f6 |
C |
T |
13: 23,880,032 (GRCm39) |
L62F |
probably damaging |
Het |
| Hdac7 |
T |
A |
15: 97,691,816 (GRCm39) |
E835D |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,286,646 (GRCm39) |
T3663I |
probably damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,515 (GRCm39) |
D114E |
probably benign |
Het |
| Kif5a |
A |
T |
10: 127,075,065 (GRCm39) |
V516E |
probably benign |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,218 (GRCm39) |
|
probably null |
Het |
| Miga1 |
G |
T |
3: 151,982,327 (GRCm39) |
T519K |
probably benign |
Het |
| Mtfr1l |
G |
A |
4: 134,256,511 (GRCm39) |
P182S |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,367,818 (GRCm39) |
I193V |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,223,871 (GRCm39) |
|
probably benign |
Het |
| Or13a26 |
A |
T |
7: 140,284,350 (GRCm39) |
Y62F |
probably damaging |
Het |
| Or1e1c |
A |
T |
11: 73,265,833 (GRCm39) |
Q86L |
probably benign |
Het |
| Or5h22 |
T |
A |
16: 58,894,793 (GRCm39) |
T217S |
probably benign |
Het |
| Pias1 |
T |
C |
9: 62,820,137 (GRCm39) |
T277A |
probably benign |
Het |
| Skic3 |
G |
A |
13: 76,270,784 (GRCm39) |
C127Y |
probably damaging |
Het |
| Slamf6 |
T |
A |
1: 171,765,666 (GRCm39) |
H263Q |
probably benign |
Het |
| Snrnp48 |
A |
G |
13: 38,404,740 (GRCm39) |
D202G |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,148,279 (GRCm39) |
D269E |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,465,303 (GRCm39) |
D344V |
probably benign |
Het |
| Tmem62 |
G |
T |
2: 120,809,700 (GRCm39) |
K127N |
possibly damaging |
Het |
| Trav15-1-dv6-1 |
C |
T |
14: 53,797,492 (GRCm39) |
T46I |
possibly damaging |
Het |
| Trav16d-dv11 |
C |
T |
14: 53,285,041 (GRCm39) |
T39M |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,736,575 (GRCm39) |
D2794G |
probably damaging |
Het |
| Trpc7 |
C |
T |
13: 56,952,353 (GRCm39) |
G551D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,644,634 (GRCm39) |
V11294A |
possibly damaging |
Het |
| Ubap2 |
G |
A |
4: 41,195,328 (GRCm39) |
|
probably benign |
Het |
| Ubap2l |
G |
A |
3: 89,916,563 (GRCm39) |
Q915* |
probably null |
Het |
| Ubfd1 |
A |
G |
7: 121,677,695 (GRCm39) |
E340G |
probably benign |
Het |
| Vmn1r6 |
T |
G |
6: 56,979,529 (GRCm39) |
L42V |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,834,237 (GRCm39) |
T1635A |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,520,226 (GRCm39) |
H449Q |
probably benign |
Het |
| Zfp750 |
A |
T |
11: 121,403,922 (GRCm39) |
S318T |
probably benign |
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 |
|
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 |
|
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 |
2013-06-28 |
Incidental Mutation