Incidental Mutation 'R9650:Vil1'
| ID |
727012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vil1
|
| Ensembl Gene |
ENSMUSG00000026175 |
| Gene Name |
villin 1 |
| Synonyms |
Villin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R9650 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74448543-74474719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74464775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 474
(P474L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027366]
|
| AlphaFold |
Q62468 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027366
AA Change: P474L
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: P474L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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 |
|---|
| Abca6 |
T |
A |
11: 110,071,446 (GRCm39) |
N1469Y |
probably benign |
Het |
| Actl10 |
T |
A |
2: 154,394,682 (GRCm39) |
N211K |
probably benign |
Het |
| Adam33 |
C |
T |
2: 130,894,989 (GRCm39) |
V690M |
possibly damaging |
Het |
| Agap2 |
G |
A |
10: 126,927,653 (GRCm39) |
R1178H |
unknown |
Het |
| Ank2 |
T |
A |
3: 126,735,829 (GRCm39) |
T3352S |
unknown |
Het |
| BC005537 |
T |
A |
13: 24,986,122 (GRCm39) |
D7E |
unknown |
Het |
| Bptf |
T |
C |
11: 106,935,412 (GRCm39) |
M142V |
probably benign |
Het |
| Cox15 |
A |
G |
19: 43,735,318 (GRCm39) |
Y150H |
probably benign |
Het |
| Cpq |
A |
T |
15: 33,497,405 (GRCm39) |
I382F |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,254,636 (GRCm39) |
F1275S |
|
Het |
| Cs |
T |
A |
10: 128,196,856 (GRCm39) |
M417K |
probably benign |
Het |
| Cyp2b19 |
G |
A |
7: 26,466,208 (GRCm39) |
R337Q |
possibly damaging |
Het |
| Dmgdh |
A |
T |
13: 93,845,333 (GRCm39) |
Y442F |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,174,849 (GRCm39) |
D131E |
possibly damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,369,495 (GRCm39) |
I605V |
probably benign |
Het |
| Evc |
G |
A |
5: 37,458,162 (GRCm39) |
P963L |
probably damaging |
Het |
| Evl |
C |
A |
12: 108,641,698 (GRCm39) |
T160N |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,629,387 (GRCm39) |
Y255C |
probably damaging |
Het |
| Fras1 |
G |
T |
5: 96,910,387 (GRCm39) |
R3272L |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,369,375 (GRCm39) |
V2283A |
probably damaging |
Het |
| Fzd6 |
A |
G |
15: 38,894,941 (GRCm39) |
Y369C |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,135,357 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,425,354 (GRCm39) |
S449P |
probably damaging |
Het |
| Ighv1-34 |
G |
T |
12: 114,814,885 (GRCm39) |
D92E |
possibly damaging |
Het |
| Iigp1c |
T |
G |
18: 60,379,470 (GRCm39) |
V335G |
probably damaging |
Het |
| Ino80 |
C |
T |
2: 119,277,464 (GRCm39) |
R337Q |
probably damaging |
Het |
| Itgax |
T |
C |
7: 127,734,935 (GRCm39) |
I422T |
probably benign |
Het |
| Itk |
A |
T |
11: 46,222,778 (GRCm39) |
Y564N |
probably damaging |
Het |
| Kcnh5 |
A |
C |
12: 75,023,293 (GRCm39) |
S592A |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,609,083 (GRCm39) |
V416E |
possibly damaging |
Het |
| Lhfpl4 |
T |
C |
6: 113,171,147 (GRCm39) |
E13G |
probably benign |
Het |
| Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,762 (GRCm39) |
M4177K |
unknown |
Het |
| Ngef |
T |
A |
1: 87,415,552 (GRCm39) |
T371S |
possibly damaging |
Het |
| Nutm2 |
A |
T |
13: 50,623,755 (GRCm39) |
T151S |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,818,006 (GRCm39) |
L180* |
probably null |
Het |
| Or51f2 |
T |
C |
7: 102,526,987 (GRCm39) |
I220T |
probably damaging |
Het |
| Pate13 |
A |
C |
9: 35,820,799 (GRCm39) |
M84L |
probably benign |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,519 (GRCm39) |
I525K |
probably benign |
Het |
| Pcx |
C |
T |
19: 4,657,714 (GRCm39) |
R394C |
probably damaging |
Het |
| Pnmt |
A |
T |
11: 98,278,262 (GRCm39) |
D112V |
probably damaging |
Het |
| Rnf115 |
C |
T |
3: 96,665,337 (GRCm39) |
T69I |
probably damaging |
Het |
| Rrp7a |
A |
T |
15: 83,004,091 (GRCm39) |
|
probably null |
Het |
| Senp1 |
A |
T |
15: 97,946,248 (GRCm39) |
M499K |
probably damaging |
Het |
| Serpina3f |
G |
A |
12: 104,186,519 (GRCm39) |
A362T |
possibly damaging |
Het |
| Slc29a3 |
T |
A |
10: 60,586,302 (GRCm39) |
I55F |
possibly damaging |
Het |
| Stab2 |
ACC |
AC |
10: 86,692,561 (GRCm39) |
|
probably null |
Het |
| Tln1 |
G |
A |
4: 43,545,912 (GRCm39) |
T901I |
probably damaging |
Het |
| Tmem102 |
T |
C |
11: 69,695,869 (GRCm39) |
K64R |
probably benign |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,930,629 (GRCm39) |
V2105I |
probably damaging |
Het |
| Traf2 |
A |
C |
2: 25,410,454 (GRCm39) |
C391W |
probably damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,705,974 (GRCm39) |
S183P |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
C |
A |
9: 44,000,476 (GRCm39) |
N288K |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,613,929 (GRCm39) |
T381A |
probably benign |
Het |
| Wasf2 |
T |
A |
4: 132,917,457 (GRCm39) |
N185K |
unknown |
Het |
| Zfp865 |
A |
G |
7: 5,037,683 (GRCm39) |
M45V |
unknown |
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 |
|
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 |
|
|
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'- GCGCACACATACACATTCTT -3'
(R):5'- GCAAACATGCTGGTCTCTGTT -3'
Sequencing Primer
(F):5'- CACACATACACATTCTTAAACAAGTG -3'
(R):5'- TGACAAGGGACCTCTCCTATGAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation