Incidental Mutation 'R5429:Vil1'
| ID |
427046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vil1
|
| Ensembl Gene |
ENSMUSG00000026175 |
| Gene Name |
villin 1 |
| Synonyms |
Villin |
| MMRRC Submission |
042995-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R5429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74448543-74474719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74471490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 757
(T757I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027366]
[ENSMUST00000044260]
|
| AlphaFold |
Q62468 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027366
AA Change: T757I
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: T757I
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
G |
7: 75,252,652 (GRCm39) |
S261A |
possibly damaging |
Het |
| Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
| Auts2 |
G |
A |
5: 131,501,173 (GRCm39) |
T289M |
probably damaging |
Het |
| Btaf1 |
G |
A |
19: 36,972,257 (GRCm39) |
V1331I |
possibly damaging |
Het |
| Ciz1 |
T |
A |
2: 32,266,055 (GRCm39) |
I609K |
possibly damaging |
Het |
| Clca3b |
C |
T |
3: 144,552,220 (GRCm39) |
V154I |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,960,157 (GRCm39) |
T564A |
possibly damaging |
Het |
| Csrnp2 |
A |
G |
15: 100,379,935 (GRCm39) |
V452A |
probably benign |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,744,177 (GRCm39) |
D677G |
probably damaging |
Het |
| Filip1l |
A |
T |
16: 57,390,618 (GRCm39) |
E402V |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Ghr |
G |
A |
15: 3,418,157 (GRCm39) |
Q37* |
probably null |
Het |
| Gm10770 |
C |
T |
2: 150,021,343 (GRCm39) |
R58H |
probably benign |
Het |
| Gm12789 |
T |
C |
4: 101,847,158 (GRCm39) |
Y148H |
possibly damaging |
Het |
| Herc4 |
T |
A |
10: 63,110,792 (GRCm39) |
N234K |
probably benign |
Het |
| Itih3 |
A |
G |
14: 30,645,478 (GRCm39) |
V10A |
probably benign |
Het |
| Kat14 |
T |
A |
2: 144,235,243 (GRCm39) |
D234E |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,926,245 (GRCm39) |
|
probably null |
Het |
| Kif2b |
A |
G |
11: 91,468,055 (GRCm39) |
V76A |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,403,650 (GRCm39) |
T150A |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,507,293 (GRCm39) |
L398H |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nfx1 |
T |
C |
4: 41,004,343 (GRCm39) |
C705R |
probably damaging |
Het |
| Or13a27 |
A |
G |
7: 139,925,186 (GRCm39) |
F239L |
possibly damaging |
Het |
| Or2ak5 |
T |
A |
11: 58,611,350 (GRCm39) |
N175Y |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,338,635 (GRCm39) |
S931P |
probably benign |
Het |
| Pdpk1 |
T |
C |
17: 24,310,534 (GRCm39) |
E205G |
probably benign |
Het |
| Ppp2r2a |
A |
T |
14: 67,261,205 (GRCm39) |
F172I |
probably damaging |
Het |
| Ppp2r5e |
T |
A |
12: 75,500,537 (GRCm39) |
D452V |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,208,751 (GRCm39) |
T185S |
probably damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,183,898 (GRCm39) |
V209A |
probably benign |
Het |
| Safb |
T |
C |
17: 56,895,822 (GRCm39) |
V20A |
probably benign |
Het |
| Scaf8 |
C |
A |
17: 3,247,385 (GRCm39) |
P903T |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 115,800,574 (GRCm39) |
S31P |
possibly damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,079,024 (GRCm39) |
|
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Tbc1d32 |
T |
C |
10: 55,904,089 (GRCm39) |
D1226G |
probably damaging |
Het |
| Tlnrd1 |
G |
T |
7: 83,531,522 (GRCm39) |
T303N |
probably damaging |
Het |
| Tmc1 |
G |
T |
19: 20,766,986 (GRCm39) |
N738K |
possibly damaging |
Het |
| Tmem41a |
A |
G |
16: 21,753,606 (GRCm39) |
I255T |
probably benign |
Het |
| Trim7 |
G |
A |
11: 48,740,782 (GRCm39) |
C293Y |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,634,075 (GRCm39) |
Q385* |
probably null |
Het |
| Ttc39b |
A |
G |
4: 83,162,190 (GRCm39) |
I330T |
possibly damaging |
Het |
| Zfp462 |
T |
C |
4: 55,060,077 (GRCm39) |
V1201A |
probably damaging |
Het |
| Zfp473 |
T |
A |
7: 44,382,272 (GRCm39) |
E686V |
possibly damaging |
Het |
| Zfp998 |
G |
A |
13: 66,579,887 (GRCm39) |
P199S |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACTTAGGCCAGTTGCAG -3'
(R):5'- GGCACAGTCTGAGGTTATTAGG -3'
Sequencing Primer
(F):5'- CTAGGCTATTAGCTTTTGGGTCCAAC -3'
(R):5'- GGTTTTCTAATAACATGGACCAGACC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation