Incidental Mutation 'R5333:Vil1'
| ID |
423331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vil1
|
| Ensembl Gene |
ENSMUSG00000026175 |
| Gene Name |
villin 1 |
| Synonyms |
Villin |
| MMRRC Submission |
042915-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R5333 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74448543-74474719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74471549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 777
(V777I)
|
| 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: V777I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: V777I
| 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 |
|
| Meta Mutation Damage Score |
0.0920 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (56/58) |
| 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 |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abca14 |
T |
A |
7: 119,888,769 (GRCm39) |
Y1238* |
probably null |
Het |
| Abcb5 |
A |
T |
12: 118,831,677 (GRCm39) |
V1225D |
probably damaging |
Het |
| Arhgef15 |
A |
G |
11: 68,838,022 (GRCm39) |
|
probably benign |
Het |
| As3mt |
A |
G |
19: 46,696,635 (GRCm39) |
R58G |
probably null |
Het |
| Asap1 |
T |
G |
15: 63,999,263 (GRCm39) |
N525T |
possibly damaging |
Het |
| Bhmt2 |
A |
G |
13: 93,807,938 (GRCm39) |
V50A |
probably benign |
Het |
| Bpnt2 |
A |
C |
4: 4,767,963 (GRCm39) |
V271G |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,890,935 (GRCm39) |
I36F |
possibly damaging |
Het |
| Cd209c |
A |
G |
8: 3,994,976 (GRCm39) |
S63P |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,054,457 (GRCm39) |
E56G |
possibly damaging |
Het |
| Cdkal1 |
T |
C |
13: 29,510,135 (GRCm39) |
Y541C |
probably benign |
Het |
| Cenph |
G |
T |
13: 100,898,280 (GRCm39) |
H208N |
probably benign |
Het |
| Cfap65 |
A |
T |
1: 74,942,334 (GRCm39) |
L1740Q |
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,521,197 (GRCm39) |
D623G |
probably damaging |
Het |
| Ckap4 |
C |
A |
10: 84,363,474 (GRCm39) |
V530L |
probably damaging |
Het |
| Cldn13 |
A |
T |
5: 134,943,869 (GRCm39) |
N105K |
probably benign |
Het |
| Ddn |
T |
C |
15: 98,703,237 (GRCm39) |
D685G |
possibly damaging |
Het |
| Fdxr |
T |
C |
11: 115,163,084 (GRCm39) |
I70V |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,663,339 (GRCm39) |
Y1050N |
probably damaging |
Het |
| Iqcf3 |
A |
G |
9: 106,430,860 (GRCm39) |
I96T |
possibly damaging |
Het |
| Itgax |
A |
G |
7: 127,741,455 (GRCm39) |
Y822C |
probably damaging |
Het |
| Katnb1 |
A |
T |
8: 95,822,234 (GRCm39) |
I286L |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,355,572 (GRCm39) |
I424R |
probably benign |
Het |
| Lrpprc |
C |
A |
17: 85,097,821 (GRCm39) |
A41S |
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,236,145 (GRCm39) |
L761P |
probably benign |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Mpp4 |
C |
A |
1: 59,196,600 (GRCm39) |
R44L |
probably benign |
Het |
| Nalf1 |
T |
A |
8: 9,820,762 (GRCm39) |
Q86L |
possibly damaging |
Het |
| Nkain3 |
T |
A |
4: 20,484,889 (GRCm39) |
M63L |
probably benign |
Het |
| Nup88 |
A |
C |
11: 70,835,842 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 58,953,518 (GRCm39) |
C3837S |
probably damaging |
Het |
| Ogdh |
T |
G |
11: 6,302,126 (GRCm39) |
L850V |
probably damaging |
Het |
| Or4f17-ps1 |
A |
G |
2: 111,358,048 (GRCm39) |
I148V |
probably benign |
Het |
| Or5w11 |
A |
G |
2: 87,459,458 (GRCm39) |
Y217C |
probably damaging |
Het |
| Panx2 |
T |
C |
15: 88,952,742 (GRCm39) |
I411T |
possibly damaging |
Het |
| Papss1 |
T |
A |
3: 131,348,805 (GRCm39) |
M585K |
probably damaging |
Het |
| Pcbp2 |
T |
G |
15: 102,394,456 (GRCm39) |
L180R |
possibly damaging |
Het |
| Pcdha7 |
A |
T |
18: 37,107,619 (GRCm39) |
T215S |
probably benign |
Het |
| Pcdhga4 |
C |
T |
18: 37,818,477 (GRCm39) |
R9C |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,411,970 (GRCm39) |
V687A |
probably benign |
Het |
| Potefam1 |
A |
T |
2: 111,024,682 (GRCm39) |
Y61N |
possibly damaging |
Het |
| Psma6 |
A |
G |
12: 55,454,213 (GRCm39) |
|
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,219,471 (GRCm39) |
S241T |
probably benign |
Het |
| Scgb2b18 |
A |
T |
7: 32,872,700 (GRCm39) |
L35H |
probably damaging |
Het |
| Slc11a1 |
A |
C |
1: 74,423,304 (GRCm39) |
D385A |
probably damaging |
Het |
| Stk31 |
T |
A |
6: 49,446,086 (GRCm39) |
C930S |
probably benign |
Het |
| Syt10 |
T |
A |
15: 89,725,932 (GRCm39) |
Q14L |
probably benign |
Het |
| Tnxb |
T |
G |
17: 34,909,205 (GRCm39) |
W1578G |
probably damaging |
Het |
| Triml1 |
C |
T |
8: 43,583,327 (GRCm39) |
A425T |
possibly damaging |
Het |
| Vmn1r175 |
T |
C |
7: 23,508,004 (GRCm39) |
I208V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGGTACCATAGATCACAGCG -3'
(R):5'- TGATTGGACTTCTATGCCCTGC -3'
Sequencing Primer
(F):5'- GCACAGCAGCACAGGATGTTG -3'
(R):5'- TGCTCCCAGGGATATAGGAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation