Incidental Mutation 'R7353:Vill'
ID |
570749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vill
|
Ensembl Gene |
ENSMUSG00000038775 |
Gene Name |
villin-like |
Synonyms |
Villp |
MMRRC Submission |
045439-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R7353 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118894561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 406
(V406A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051386]
[ENSMUST00000074734]
[ENSMUST00000126251]
[ENSMUST00000136561]
[ENSMUST00000141185]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051386
AA Change: V406A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000061731 Gene: ENSMUSG00000038775 AA Change: V406A
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: V406A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074294 Gene: ENSMUSG00000038775 AA Change: V406A
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: V14A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000116262 Gene: ENSMUSG00000038775 AA Change: V14A
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 damaging
Transcript: ENSMUST00000136561
AA Change: V14A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123393 Gene: ENSMUSG00000038775 AA Change: V14A
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: V22A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116546 Gene: ENSMUSG00000038775 AA Change: V22A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
C |
A |
13: 119,624,714 (GRCm39) |
A11S |
unknown |
Het |
Aadacl4 |
G |
A |
4: 144,344,490 (GRCm39) |
V89I |
probably damaging |
Het |
Abcc9 |
T |
A |
6: 142,546,731 (GRCm39) |
I1369F |
probably damaging |
Het |
Adgrf3 |
T |
A |
5: 30,403,495 (GRCm39) |
I427F |
probably damaging |
Het |
Alox12e |
T |
C |
11: 70,212,261 (GRCm39) |
Y139C |
probably damaging |
Het |
Arhgef2 |
T |
A |
3: 88,542,993 (GRCm39) |
V397E |
possibly damaging |
Het |
Arhgef28 |
T |
A |
13: 98,211,710 (GRCm39) |
Y91F |
probably damaging |
Het |
Bcar3 |
A |
G |
3: 122,306,341 (GRCm39) |
T454A |
probably benign |
Het |
Bicc1 |
G |
T |
10: 70,783,730 (GRCm39) |
T469K |
probably benign |
Het |
Boc |
C |
T |
16: 44,306,100 (GRCm39) |
V1070M |
unknown |
Het |
Ccdc88a |
T |
A |
11: 29,413,368 (GRCm39) |
N635K |
probably benign |
Het |
Ccr2 |
T |
C |
9: 123,906,793 (GRCm39) |
S358P |
probably damaging |
Het |
Ccser2 |
T |
C |
14: 36,663,100 (GRCm39) |
Q28R |
possibly damaging |
Het |
Cenpf |
T |
A |
1: 189,386,335 (GRCm39) |
K1982* |
probably null |
Het |
Csn1s2a |
A |
T |
5: 87,933,161 (GRCm39) |
I137F |
possibly damaging |
Het |
Cttnbp2 |
A |
T |
6: 18,375,943 (GRCm39) |
I1532K |
possibly damaging |
Het |
Dnajc13 |
C |
A |
9: 104,107,230 (GRCm39) |
R304L |
possibly damaging |
Het |
Dop1a |
T |
A |
9: 86,394,912 (GRCm39) |
M664K |
probably damaging |
Het |
Emilin3 |
T |
A |
2: 160,750,741 (GRCm39) |
E336V |
probably damaging |
Het |
Eml5 |
A |
G |
12: 98,791,683 (GRCm39) |
Y63H |
|
Het |
Fbxo41 |
G |
T |
6: 85,456,958 (GRCm39) |
R404S |
possibly damaging |
Het |
Gpr155 |
A |
T |
2: 73,197,835 (GRCm39) |
Y456* |
probably null |
Het |
Gpr156 |
T |
A |
16: 37,812,523 (GRCm39) |
N286K |
probably damaging |
Het |
Kcna5 |
A |
G |
6: 126,511,808 (GRCm39) |
S107P |
probably benign |
Het |
Kcne2 |
A |
T |
16: 92,093,710 (GRCm39) |
H79L |
possibly damaging |
Het |
Kcnh4 |
T |
A |
11: 100,648,025 (GRCm39) |
M113L |
probably benign |
Het |
Lad1 |
T |
A |
1: 135,755,513 (GRCm39) |
L263Q |
probably damaging |
Het |
Lctl |
G |
A |
9: 64,034,249 (GRCm39) |
G296D |
probably damaging |
Het |
Lmtk3 |
A |
T |
7: 45,437,424 (GRCm39) |
I205F |
possibly damaging |
Het |
Magel2 |
G |
T |
7: 62,029,079 (GRCm39) |
R661L |
unknown |
Het |
Mcm10 |
G |
A |
2: 5,011,920 (GRCm39) |
P180S |
possibly damaging |
Het |
Mia3 |
G |
T |
1: 183,108,247 (GRCm39) |
A446D |
|
Het |
N4bp2 |
G |
A |
5: 65,963,714 (GRCm39) |
V588M |
probably benign |
Het |
Naip6 |
C |
T |
13: 100,436,259 (GRCm39) |
V755M |
probably benign |
Het |
Neurl1a |
T |
C |
19: 47,229,099 (GRCm39) |
V213A |
probably damaging |
Het |
Nrdc |
A |
G |
4: 108,896,946 (GRCm39) |
T522A |
probably damaging |
Het |
Ntng1 |
T |
C |
3: 110,042,763 (GRCm39) |
Q21R |
probably damaging |
Het |
Nup160 |
T |
C |
2: 90,534,296 (GRCm39) |
L707S |
probably damaging |
Het |
Oas2 |
A |
T |
5: 120,876,587 (GRCm39) |
V452D |
probably damaging |
Het |
Or10a3n |
A |
G |
7: 108,493,429 (GRCm39) |
F67L |
probably damaging |
Het |
Or1j1 |
A |
G |
2: 36,702,915 (GRCm39) |
L63P |
probably damaging |
Het |
Or1j4 |
A |
T |
2: 36,740,081 (GRCm39) |
M8L |
probably benign |
Het |
Or1n1 |
G |
A |
2: 36,749,680 (GRCm39) |
R227* |
probably null |
Het |
Or52s1 |
A |
C |
7: 102,861,516 (GRCm39) |
T150P |
probably damaging |
Het |
Plekhg1 |
A |
T |
10: 3,914,327 (GRCm39) |
T1405S |
|
Het |
Pnrc1 |
G |
A |
4: 33,248,300 (GRCm39) |
P33L |
probably damaging |
Het |
Prkag2 |
A |
T |
5: 25,085,684 (GRCm39) |
V312E |
possibly damaging |
Het |
Rps17 |
T |
A |
7: 80,994,093 (GRCm39) |
E76V |
possibly damaging |
Het |
Rsph10b |
G |
A |
5: 143,904,038 (GRCm39) |
G672S |
possibly damaging |
Het |
Slc2a13 |
T |
C |
15: 91,205,807 (GRCm39) |
N460S |
probably benign |
Het |
Slco2b1 |
A |
T |
7: 99,339,764 (GRCm39) |
C56S |
possibly damaging |
Het |
Speer1f |
G |
A |
5: 11,466,403 (GRCm39) |
D7N |
possibly damaging |
Het |
Spn |
T |
C |
7: 126,736,178 (GRCm39) |
T110A |
probably benign |
Het |
Sult2a8 |
T |
C |
7: 14,147,640 (GRCm39) |
N217S |
possibly damaging |
Het |
Tbx2 |
C |
A |
11: 85,724,315 (GRCm39) |
T128N |
probably damaging |
Het |
Tecpr2 |
A |
T |
12: 110,934,278 (GRCm39) |
M1313L |
probably benign |
Het |
Tmc2 |
G |
A |
2: 130,038,497 (GRCm39) |
|
probably null |
Het |
Tstd1 |
G |
T |
1: 171,247,523 (GRCm39) |
A69S |
probably damaging |
Het |
Txnrd3 |
A |
G |
6: 89,638,567 (GRCm39) |
D252G |
probably benign |
Het |
Ulk2 |
T |
C |
11: 61,710,174 (GRCm39) |
N345D |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,481,355 (GRCm39) |
D1694G |
probably benign |
Het |
Vmn2r115 |
T |
C |
17: 23,564,887 (GRCm39) |
V258A |
possibly damaging |
Het |
Vmn2r82 |
T |
A |
10: 79,232,452 (GRCm39) |
M817K |
probably benign |
Het |
Xpnpep3 |
T |
C |
15: 81,315,088 (GRCm39) |
S263P |
probably benign |
Het |
Zfp980 |
A |
G |
4: 145,428,714 (GRCm39) |
D481G |
probably benign |
Het |
Zmpste24 |
A |
G |
4: 120,952,778 (GRCm39) |
S81P |
probably damaging |
Het |
Znrf4 |
A |
G |
17: 56,819,169 (GRCm39) |
V46A |
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 |
R4946:Vill
|
UTSW |
9 |
118,897,508 (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 |
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'- AAGGGTCACTCAAAGGTCCG -3'
(R):5'- TCTACAGTGCTTTGGTGGCC -3'
Sequencing Primer
(F):5'- GTCACTCAAAGGTCCGGTATG -3'
(R):5'- TTTGGTGGCCCTGCAACAG -3'
|
Posted On |
2019-09-13 |