Incidental Mutation 'R7112:Vil1'
| ID |
551540 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vil1
|
| Ensembl Gene |
ENSMUSG00000026175 |
| Gene Name |
villin 1 |
| Synonyms |
Villin |
| MMRRC Submission |
045204-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R7112 (G1)
|
| Quality Score |
134.008 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74448543-74474719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74455161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 38
(G38R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027366]
|
| AlphaFold |
Q62468 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027366
AA Change: G38R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: G38R
| 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: 98.9%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
G |
T |
12: 112,747,747 (GRCm39) |
A1036E |
|
Het |
| Baz2b |
A |
T |
2: 59,792,528 (GRCm39) |
H533Q |
possibly damaging |
Het |
| Bcl2l11 |
T |
A |
2: 128,000,235 (GRCm39) |
W193R |
probably damaging |
Het |
| Bcl2l12 |
C |
T |
7: 44,646,338 (GRCm39) |
G24D |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,580,773 (GRCm39) |
V691A |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,922,984 (GRCm39) |
D304G |
probably damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,594 (GRCm39) |
Q525H |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,151,142 (GRCm39) |
C1391F |
probably damaging |
Het |
| Cul7 |
G |
T |
17: 46,962,624 (GRCm39) |
G85V |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,090,366 (GRCm39) |
V4623I |
possibly damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,363,192 (GRCm39) |
L3918Q |
probably damaging |
Het |
| Exoc4 |
A |
T |
6: 33,898,423 (GRCm39) |
N881Y |
probably damaging |
Het |
| Flt1 |
G |
C |
5: 147,540,379 (GRCm39) |
A770G |
probably damaging |
Het |
| Fndc5 |
A |
G |
4: 129,035,915 (GRCm39) |
N184S |
probably benign |
Het |
| Folh1 |
A |
G |
7: 86,424,845 (GRCm39) |
|
probably null |
Het |
| Frem3 |
A |
T |
8: 81,338,660 (GRCm39) |
T318S |
probably damaging |
Het |
| Gba2 |
A |
G |
4: 43,568,453 (GRCm39) |
V671A |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Jph2 |
G |
A |
2: 163,217,704 (GRCm39) |
T324M |
probably damaging |
Het |
| Kank4 |
A |
G |
4: 98,649,758 (GRCm39) |
V937A |
probably damaging |
Het |
| Kdm3a |
T |
A |
6: 71,609,154 (GRCm39) |
E24D |
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,054,018 (GRCm39) |
L464Q |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,476,210 (GRCm39) |
V1159E |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 15,929,987 (GRCm39) |
N1498D |
unknown |
Het |
| Mplkipl1 |
T |
G |
19: 61,163,997 (GRCm39) |
D146A |
probably damaging |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,655 (GRCm39) |
V27I |
probably benign |
Het |
| Mtfr2 |
A |
G |
10: 20,233,312 (GRCm39) |
N294D |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,235,542 (GRCm39) |
L498H |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,948,050 (GRCm39) |
T227A |
possibly damaging |
Het |
| Nin |
C |
T |
12: 70,149,573 (GRCm39) |
R12Q |
|
Het |
| Obscn |
G |
C |
11: 58,920,151 (GRCm39) |
A27G |
|
Het |
| Or11h7 |
T |
A |
14: 50,891,583 (GRCm39) |
D296E |
probably benign |
Het |
| Or4k5 |
T |
G |
14: 50,385,392 (GRCm39) |
E313A |
probably benign |
Het |
| Or52r1b |
G |
A |
7: 102,690,862 (GRCm39) |
D54N |
probably damaging |
Het |
| Or8b48 |
T |
A |
9: 38,493,330 (GRCm39) |
Y252* |
probably null |
Het |
| Or8s5 |
T |
A |
15: 98,238,421 (GRCm39) |
M150L |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,135 (GRCm39) |
S1672P |
unknown |
Het |
| Qprt |
A |
G |
7: 126,707,361 (GRCm39) |
V245A |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,325,176 (GRCm39) |
E377V |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,491,061 (GRCm39) |
T71A |
probably benign |
Het |
| Ret |
A |
T |
6: 118,174,063 (GRCm39) |
L11Q |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,419,241 (GRCm39) |
V624I |
probably benign |
Het |
| Scaf8 |
T |
A |
17: 3,213,304 (GRCm39) |
L131H |
unknown |
Het |
| Scgb2a2 |
A |
G |
19: 9,829,021 (GRCm39) |
R58G |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,583,875 (GRCm39) |
I1580T |
probably damaging |
Het |
| Slco4c1 |
T |
G |
1: 96,768,866 (GRCm39) |
K332T |
probably damaging |
Het |
| Sntg1 |
T |
G |
1: 8,518,289 (GRCm39) |
Y368S |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,057,615 (GRCm39) |
T143A |
probably benign |
Het |
| Tbr1 |
A |
G |
2: 61,642,160 (GRCm39) |
D475G |
probably benign |
Het |
| Tcp1 |
A |
G |
17: 13,136,760 (GRCm39) |
D47G |
probably damaging |
Het |
| Tpgs2 |
T |
C |
18: 25,282,194 (GRCm39) |
D119G |
probably damaging |
Het |
| Trim40 |
C |
A |
17: 37,193,534 (GRCm39) |
R225M |
probably null |
Het |
| Tro |
GCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC |
GCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC |
X: 149,428,852 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,885,593 (GRCm39) |
N870Y |
probably damaging |
Het |
| Tsr3 |
A |
G |
17: 25,459,445 (GRCm39) |
D47G |
probably benign |
Het |
| Vmn2r91 |
A |
T |
17: 18,325,880 (GRCm39) |
Q166L |
possibly damaging |
Het |
| Wdr33 |
C |
T |
18: 32,026,056 (GRCm39) |
T919I |
unknown |
Het |
| Wdr36 |
T |
C |
18: 32,972,504 (GRCm39) |
V64A |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,998,538 (GRCm39) |
I237V |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,566 (GRCm39) |
I663N |
probably damaging |
Het |
| Zfyve9 |
G |
A |
4: 108,507,519 (GRCm39) |
A513V |
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 |
|
|
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 |
|
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'- TCAGCTTCAGTACCTGGTGG -3'
(R):5'- TGGTCACTCTTGCAAACACTGAC -3'
Sequencing Primer
(F):5'- TGTACTGGTCCCAAACAGTG -3'
(R):5'- GTCACTCTTGCAAACACTGACTAATG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation