Incidental Mutation 'R4946:Vill'
| ID |
383426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vill
|
| Ensembl Gene |
ENSMUSG00000038775 |
| Gene Name |
villin-like |
| Synonyms |
Villp |
| MMRRC Submission |
042543-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R4946 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 118897508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 261
(L261R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010804]
[ENSMUST00000051386]
[ENSMUST00000074734]
[ENSMUST00000126251]
[ENSMUST00000136561]
[ENSMUST00000141185]
[ENSMUST00000213464]
[ENSMUST00000214470]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010804
|
| SMART Domains |
Protein: ENSMUSP00000010804
Gene: ENSMUSG00000010660
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
22 |
132 |
9.41e-10 |
SMART |
|
EFh
|
144 |
172 |
2.87e-2 |
SMART |
|
EFh
|
180 |
208 |
9.34e1 |
SMART |
|
Pfam:EF-hand_like
|
213 |
295 |
1.2e-23 |
PFAM |
|
PLCXc
|
296 |
440 |
5.47e-94 |
SMART |
|
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
|
PLCYc
|
492 |
609 |
1.22e-68 |
SMART |
|
C2
|
630 |
735 |
1.78e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051386
AA Change: L645R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: L645R
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
14 |
114 |
4.59e-13 |
SMART |
|
GEL
|
135 |
227 |
4.18e-16 |
SMART |
|
GEL
|
252 |
348 |
8.35e-25 |
SMART |
|
GEL
|
391 |
488 |
7.92e-17 |
SMART |
|
GEL
|
508 |
594 |
4.38e-19 |
SMART |
|
GEL
|
613 |
706 |
7.8e-16 |
SMART |
|
VHP
|
824 |
859 |
2.12e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074734
AA Change: L645R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: L645R
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
14 |
114 |
4.59e-13 |
SMART |
|
GEL
|
135 |
227 |
4.18e-16 |
SMART |
|
GEL
|
252 |
348 |
8.35e-25 |
SMART |
|
GEL
|
391 |
488 |
7.92e-17 |
SMART |
|
GEL
|
508 |
594 |
4.38e-19 |
SMART |
|
VHP
|
740 |
775 |
2.12e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126251
AA Change: L200R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775
AA Change: L200R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:GEL
|
1 |
56 |
9e-21 |
BLAST |
|
GEL
|
63 |
149 |
4.38e-19 |
SMART |
|
GEL
|
168 |
261 |
7.8e-16 |
SMART |
|
VHP
|
357 |
392 |
2.12e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136561
|
| SMART Domains |
Protein: ENSMUSP00000123393
Gene: ENSMUSG00000038775
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
1 |
96 |
2.46e-13 |
SMART |
|
Blast:GEL
|
116 |
140 |
2e-8 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141185
AA Change: L261R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775
AA Change: L261R
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
7 |
104 |
7.92e-17 |
SMART |
|
GEL
|
124 |
210 |
4.38e-19 |
SMART |
|
GEL
|
229 |
322 |
7.8e-16 |
SMART |
|
VHP
|
440 |
475 |
2.12e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153630
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213464
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214470
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,977,300 (GRCm39) |
D98G |
probably damaging |
Het |
| Adgre1 |
G |
A |
17: 57,750,918 (GRCm39) |
V531I |
probably benign |
Het |
| Aldoart2 |
A |
G |
12: 55,612,801 (GRCm39) |
Q242R |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,735,589 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,733,947 (GRCm39) |
A737V |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,401,704 (GRCm39) |
I789V |
probably benign |
Het |
| Ankrd13c |
T |
C |
3: 157,711,410 (GRCm39) |
V510A |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,393,118 (GRCm39) |
M2216K |
probably damaging |
Het |
| Arrdc1 |
A |
G |
2: 24,815,860 (GRCm39) |
V380A |
probably benign |
Het |
| B3galt1 |
C |
A |
2: 67,948,913 (GRCm39) |
N209K |
possibly damaging |
Het |
| Cd300c2 |
A |
T |
11: 114,887,731 (GRCm39) |
C224S |
probably benign |
Het |
| Cdk4 |
T |
C |
10: 126,900,759 (GRCm39) |
|
probably null |
Het |
| Cdk5rap1 |
T |
C |
2: 154,210,794 (GRCm39) |
T115A |
possibly damaging |
Het |
| Clvs1 |
A |
T |
4: 9,281,831 (GRCm39) |
R92* |
probably null |
Het |
| Cnga1 |
A |
G |
5: 72,762,107 (GRCm39) |
V469A |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,087,479 (GRCm39) |
F16L |
probably benign |
Het |
| Dlg5 |
A |
T |
14: 24,204,429 (GRCm39) |
C1299S |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,530,783 (GRCm39) |
Y3690F |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,326,703 (GRCm39) |
M1971V |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,388,050 (GRCm39) |
V3170M |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,963,200 (GRCm39) |
Y485H |
probably benign |
Het |
| Dsc2 |
T |
C |
18: 20,183,214 (GRCm39) |
D68G |
probably damaging |
Het |
| Eeig2 |
A |
G |
3: 108,887,544 (GRCm39) |
V240A |
probably benign |
Het |
| Elavl1 |
A |
T |
8: 4,351,752 (GRCm39) |
D121E |
probably benign |
Het |
| Ermap |
A |
G |
4: 119,040,505 (GRCm39) |
V311A |
probably damaging |
Het |
| Fbxw11 |
C |
T |
11: 32,689,226 (GRCm39) |
R437C |
probably damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,249,634 (GRCm39) |
M495V |
probably benign |
Het |
| Hacd1 |
C |
T |
2: 14,049,948 (GRCm39) |
|
probably null |
Het |
| Itgav |
A |
G |
2: 83,619,327 (GRCm39) |
R596G |
probably benign |
Het |
| Kars1 |
T |
C |
8: 112,728,352 (GRCm39) |
H215R |
possibly damaging |
Het |
| Kif26a |
G |
A |
12: 112,144,228 (GRCm39) |
R1494H |
probably damaging |
Het |
| Klf12 |
G |
A |
14: 100,260,393 (GRCm39) |
S112L |
possibly damaging |
Het |
| Krt77 |
T |
C |
15: 101,777,998 (GRCm39) |
Y19C |
unknown |
Het |
| Lrrc4c |
A |
G |
2: 97,460,834 (GRCm39) |
T487A |
probably benign |
Het |
| Lrrn1 |
A |
G |
6: 107,545,851 (GRCm39) |
M550V |
probably benign |
Het |
| Lsr |
C |
A |
7: 30,657,634 (GRCm39) |
R442L |
probably benign |
Het |
| Lysmd2 |
A |
C |
9: 75,542,728 (GRCm39) |
T112P |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,909,017 (GRCm39) |
S99T |
probably benign |
Het |
| Mettl4 |
A |
G |
17: 95,047,960 (GRCm39) |
V227A |
probably benign |
Het |
| Mill2 |
T |
A |
7: 18,590,608 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
T |
C |
11: 101,895,848 (GRCm39) |
N476D |
probably benign |
Het |
| Mtmr6 |
C |
T |
14: 60,517,638 (GRCm39) |
P83L |
possibly damaging |
Het |
| Myh3 |
T |
C |
11: 66,984,364 (GRCm39) |
I1067T |
probably benign |
Het |
| Myh9 |
C |
A |
15: 77,657,540 (GRCm39) |
Q1068H |
probably damaging |
Het |
| Narf |
T |
A |
11: 121,141,179 (GRCm39) |
H304Q |
possibly damaging |
Het |
| Nfatc2ip |
G |
T |
7: 125,995,784 (GRCm39) |
P35Q |
possibly damaging |
Het |
| Npas3 |
C |
A |
12: 54,112,618 (GRCm39) |
P426Q |
probably damaging |
Het |
| Or10aa3 |
T |
G |
1: 173,878,400 (GRCm39) |
S154A |
possibly damaging |
Het |
| Or4e1 |
G |
A |
14: 52,700,740 (GRCm39) |
T242I |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,311 (GRCm39) |
Y207H |
possibly damaging |
Het |
| Or51i1 |
T |
A |
7: 103,671,219 (GRCm39) |
Q102L |
probably damaging |
Het |
| Or5p5 |
A |
G |
7: 107,414,589 (GRCm39) |
H266R |
possibly damaging |
Het |
| Pcdh10 |
A |
T |
3: 45,333,917 (GRCm39) |
E77V |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,192,019 (GRCm39) |
R2764Q |
probably damaging |
Het |
| Pgbd5 |
T |
C |
8: 125,097,324 (GRCm39) |
D493G |
possibly damaging |
Het |
| Piezo2 |
G |
T |
18: 63,290,333 (GRCm39) |
T142N |
probably benign |
Het |
| Plcb1 |
A |
G |
2: 135,187,015 (GRCm39) |
I761V |
probably benign |
Het |
| Plekhg4 |
T |
G |
8: 106,108,628 (GRCm39) |
D1196E |
probably null |
Het |
| Pparg |
A |
G |
6: 115,427,989 (GRCm39) |
K159E |
probably damaging |
Het |
| Psmb1 |
A |
T |
17: 15,718,478 (GRCm39) |
M16K |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,361,595 (GRCm39) |
I2139V |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,282,887 (GRCm39) |
S239T |
probably damaging |
Het |
| Serpina11 |
A |
G |
12: 103,950,923 (GRCm39) |
V266A |
probably damaging |
Het |
| Sf3a2 |
C |
G |
10: 80,639,947 (GRCm39) |
|
probably benign |
Het |
| Smim18 |
T |
C |
8: 34,232,587 (GRCm39) |
T11A |
possibly damaging |
Het |
| Snx6 |
G |
A |
12: 54,817,528 (GRCm39) |
T7I |
probably damaging |
Het |
| Srcin1 |
T |
A |
11: 97,442,768 (GRCm39) |
D75V |
probably damaging |
Het |
| Srsf12 |
T |
A |
4: 33,231,174 (GRCm39) |
S223T |
probably damaging |
Het |
| Taf4b |
G |
T |
18: 14,946,599 (GRCm39) |
C474F |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,444,722 (GRCm39) |
C542* |
probably null |
Het |
| Tbc1d24 |
A |
G |
17: 24,427,510 (GRCm39) |
S151P |
possibly damaging |
Het |
| Tssk6 |
T |
C |
8: 70,355,714 (GRCm39) |
S253P |
probably benign |
Het |
| Ttc39c |
G |
A |
18: 12,857,999 (GRCm39) |
W300* |
probably null |
Het |
| Ttc6 |
T |
A |
12: 57,689,926 (GRCm39) |
W539R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,582,770 (GRCm39) |
T22708A |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,749,053 (GRCm39) |
E3999* |
probably null |
Het |
| Vmn1r20 |
T |
C |
6: 57,409,159 (GRCm39) |
S162P |
probably damaging |
Het |
| Zfp516 |
T |
C |
18: 82,974,219 (GRCm39) |
I139T |
probably benign |
Het |
|
| Other mutations in Vill |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Vill
|
APN |
9 |
118,892,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01024:Vill
|
APN |
9 |
118,899,418 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01934:Vill
|
APN |
9 |
118,895,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02118:Vill
|
APN |
9 |
118,889,466 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02260:Vill
|
APN |
9 |
118,887,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02507:Vill
|
APN |
9 |
118,899,845 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02870:Vill
|
APN |
9 |
118,890,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02941:Vill
|
APN |
9 |
118,895,955 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02835:Vill
|
UTSW |
9 |
118,896,513 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0285:Vill
|
UTSW |
9 |
118,899,895 (GRCm39) |
unclassified |
probably benign |
|
|
R0571:Vill
|
UTSW |
9 |
118,899,701 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1024:Vill
|
UTSW |
9 |
118,895,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Vill
|
UTSW |
9 |
118,899,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1374:Vill
|
UTSW |
9 |
118,890,562 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1400:Vill
|
UTSW |
9 |
118,892,415 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1551:Vill
|
UTSW |
9 |
118,892,440 (GRCm39) |
missense |
probably benign |
|
|
R1584:Vill
|
UTSW |
9 |
118,894,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1630:Vill
|
UTSW |
9 |
118,899,769 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1721:Vill
|
UTSW |
9 |
118,895,082 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1946:Vill
|
UTSW |
9 |
118,887,560 (GRCm39) |
missense |
probably benign |
|
|
R2311:Vill
|
UTSW |
9 |
118,894,965 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2392:Vill
|
UTSW |
9 |
118,896,628 (GRCm39) |
unclassified |
probably benign |
|
|
R2509:Vill
|
UTSW |
9 |
118,899,370 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2760:Vill
|
UTSW |
9 |
118,895,950 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3886:Vill
|
UTSW |
9 |
118,895,782 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3944:Vill
|
UTSW |
9 |
118,897,499 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4245:Vill
|
UTSW |
9 |
118,900,359 (GRCm39) |
unclassified |
probably benign |
|
|
R4246:Vill
|
UTSW |
9 |
118,889,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Vill
|
UTSW |
9 |
118,897,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4889:Vill
|
UTSW |
9 |
118,892,409 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4932:Vill
|
UTSW |
9 |
118,890,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Vill
|
UTSW |
9 |
118,899,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5646:Vill
|
UTSW |
9 |
118,900,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6089:Vill
|
UTSW |
9 |
118,886,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6149:Vill
|
UTSW |
9 |
118,887,482 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6167:Vill
|
UTSW |
9 |
118,895,932 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6318:Vill
|
UTSW |
9 |
118,892,716 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6319:Vill
|
UTSW |
9 |
118,892,716 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6590:Vill
|
UTSW |
9 |
118,890,975 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6690:Vill
|
UTSW |
9 |
118,890,975 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6889:Vill
|
UTSW |
9 |
118,894,950 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7207:Vill
|
UTSW |
9 |
118,900,281 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7353:Vill
|
UTSW |
9 |
118,894,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7398:Vill
|
UTSW |
9 |
118,899,716 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7883:Vill
|
UTSW |
9 |
118,894,589 (GRCm39) |
nonsense |
probably null |
|
|
R8165:Vill
|
UTSW |
9 |
118,895,821 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8281:Vill
|
UTSW |
9 |
118,887,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8380:Vill
|
UTSW |
9 |
118,886,917 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8685:Vill
|
UTSW |
9 |
118,895,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8847:Vill
|
UTSW |
9 |
118,897,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8968:Vill
|
UTSW |
9 |
118,892,671 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9290:Vill
|
UTSW |
9 |
118,890,562 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF005:Vill
|
UTSW |
9 |
118,889,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vill
|
UTSW |
9 |
118,899,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGCTTTCCCTGAGGTAG -3'
(R):5'- TGCAGGTTCAAAGAGTCCCC -3'
Sequencing Primer
(F):5'- CAAGGGCCAGTGTGGTC -3'
(R):5'- AGGTTCAAAGAGTCCCCTGTGC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation