Incidental Mutation 'R0285:Vill'
| ID |
24680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vill
|
| Ensembl Gene |
ENSMUSG00000038775 |
| Gene Name |
villin-like |
| Synonyms |
Villp |
| MMRRC Submission |
038506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R0285 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 118899895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149813
(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 benign
Transcript: ENSMUST00000051386
|
| SMART Domains |
Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
| 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 benign
Transcript: ENSMUST00000074734
|
| SMART Domains |
Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
| 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 benign
Transcript: ENSMUST00000126251
|
| SMART Domains |
Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775
| 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 benign
Transcript: ENSMUST00000141185
|
| SMART Domains |
Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775
| 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: ENSMUST00000153454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214491
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213464
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153630
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.1%
- 20x: 92.9%
|
| Validation Efficiency |
99% (80/81) |
| 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 |
|---|
| Acy3 |
A |
G |
19: 4,038,193 (GRCm39) |
E162G |
probably benign |
Het |
| Angptl1 |
T |
C |
1: 156,672,785 (GRCm39) |
S204P |
probably benign |
Het |
| Atf6b |
C |
T |
17: 34,869,370 (GRCm39) |
|
probably benign |
Het |
| Card11 |
G |
A |
5: 140,872,856 (GRCm39) |
S619F |
probably damaging |
Het |
| Ccdc192 |
G |
A |
18: 57,666,937 (GRCm39) |
G5S |
probably damaging |
Het |
| Ccl11 |
G |
A |
11: 81,953,084 (GRCm39) |
V81I |
probably damaging |
Het |
| Cds1 |
T |
C |
5: 101,944,904 (GRCm39) |
I126T |
probably damaging |
Het |
| Chd1 |
A |
G |
17: 17,594,942 (GRCm39) |
|
probably benign |
Het |
| Cndp1 |
C |
A |
18: 84,636,363 (GRCm39) |
V384F |
possibly damaging |
Het |
| Cuta |
A |
G |
17: 27,158,423 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
G |
A |
14: 87,352,460 (GRCm39) |
T47I |
possibly damaging |
Het |
| Dop1a |
A |
T |
9: 86,394,692 (GRCm39) |
S598C |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,356,770 (GRCm39) |
M217V |
probably benign |
Het |
| Entrep1 |
G |
A |
19: 23,956,749 (GRCm39) |
|
probably benign |
Het |
| Esyt1 |
T |
A |
10: 128,348,087 (GRCm39) |
I898F |
possibly damaging |
Het |
| Fcsk |
G |
C |
8: 111,620,349 (GRCm39) |
H235Q |
probably benign |
Het |
| Fgd3 |
A |
T |
13: 49,417,424 (GRCm39) |
W680R |
possibly damaging |
Het |
| Folh1 |
A |
G |
7: 86,391,373 (GRCm39) |
|
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,859,806 (GRCm39) |
|
probably benign |
Het |
| Garem1 |
A |
G |
18: 21,262,669 (GRCm39) |
M715T |
probably benign |
Het |
| Gpd2 |
A |
T |
2: 57,228,967 (GRCm39) |
D257V |
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,696,103 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
G |
17: 79,115,882 (GRCm39) |
M858T |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,761,145 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
G |
T |
3: 88,004,297 (GRCm39) |
C461F |
probably benign |
Het |
| Lamb1 |
C |
A |
12: 31,376,644 (GRCm39) |
C559* |
probably null |
Het |
| Lratd2 |
T |
C |
15: 60,694,816 (GRCm39) |
H310R |
probably benign |
Het |
| Lrrc31 |
T |
C |
3: 30,739,097 (GRCm39) |
N308S |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,148,663 (GRCm39) |
Y1222C |
probably damaging |
Het |
| Map3k10 |
C |
A |
7: 27,373,325 (GRCm39) |
R42L |
probably benign |
Het |
| Meioc |
A |
G |
11: 102,563,017 (GRCm39) |
T72A |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mmp11 |
T |
C |
10: 75,761,502 (GRCm39) |
Y366C |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,963,902 (GRCm39) |
D650E |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,257,621 (GRCm39) |
M641V |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nol4l |
G |
A |
2: 153,325,773 (GRCm39) |
|
probably benign |
Het |
| Notch1 |
T |
G |
2: 26,350,873 (GRCm39) |
D2089A |
possibly damaging |
Het |
| Or10q3 |
A |
G |
19: 11,848,502 (GRCm39) |
L26P |
probably damaging |
Het |
| Or13c7 |
G |
A |
4: 43,854,398 (GRCm39) |
V30M |
possibly damaging |
Het |
| Or52h2 |
A |
T |
7: 103,838,531 (GRCm39) |
Y294* |
probably null |
Het |
| Or5b24 |
A |
T |
19: 12,912,536 (GRCm39) |
M145L |
probably benign |
Het |
| Or5l13 |
A |
G |
2: 87,780,475 (GRCm39) |
I34T |
probably damaging |
Het |
| Or5p68 |
A |
G |
7: 107,945,706 (GRCm39) |
S161P |
probably benign |
Het |
| Or8d23 |
T |
A |
9: 38,842,070 (GRCm39) |
I201N |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,536,877 (GRCm39) |
|
probably null |
Het |
| Paox |
T |
C |
7: 139,709,053 (GRCm39) |
F324L |
probably damaging |
Het |
| Pycr1 |
A |
T |
11: 120,531,142 (GRCm39) |
I277N |
probably benign |
Het |
| R3hcc1l |
A |
T |
19: 42,564,568 (GRCm39) |
H627L |
probably damaging |
Het |
| Rab21 |
G |
A |
10: 115,126,768 (GRCm39) |
S193L |
probably benign |
Het |
| Ralgds |
T |
G |
2: 28,440,581 (GRCm39) |
|
probably null |
Het |
| Rbm42 |
A |
G |
7: 30,345,265 (GRCm39) |
S169P |
possibly damaging |
Het |
| Rfpl4 |
A |
G |
7: 5,113,377 (GRCm39) |
V262A |
probably benign |
Het |
| Rhobtb3 |
A |
G |
13: 76,025,628 (GRCm39) |
I496T |
possibly damaging |
Het |
| Rnf31 |
G |
A |
14: 55,838,846 (GRCm39) |
A901T |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,731,863 (GRCm39) |
D2359G |
probably damaging |
Het |
| Sgo2b |
A |
C |
8: 64,381,823 (GRCm39) |
Y336* |
probably null |
Het |
| Slc16a7 |
T |
A |
10: 125,130,500 (GRCm39) |
I62L |
probably benign |
Het |
| Slc22a21 |
A |
T |
11: 53,850,022 (GRCm39) |
|
probably benign |
Het |
| Slc25a21 |
A |
G |
12: 56,904,810 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,898,117 (GRCm39) |
I532M |
probably damaging |
Het |
| Spata31f1a |
G |
A |
4: 42,850,236 (GRCm39) |
T640M |
probably benign |
Het |
| Srrm4 |
C |
A |
5: 116,605,848 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
C |
A |
2: 32,713,554 (GRCm39) |
E27D |
probably benign |
Het |
| Sult2a5 |
T |
A |
7: 13,362,685 (GRCm39) |
Y131N |
probably damaging |
Het |
| Svopl |
T |
C |
6: 37,961,457 (GRCm39) |
Q492R |
probably benign |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,224,905 (GRCm39) |
S119P |
probably benign |
Het |
| Tmprss11c |
A |
G |
5: 86,419,289 (GRCm39) |
L90P |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,337,068 (GRCm39) |
D346V |
probably damaging |
Het |
| Ubr4 |
A |
C |
4: 139,168,112 (GRCm39) |
S2820R |
probably damaging |
Het |
| Usp4 |
T |
C |
9: 108,255,763 (GRCm39) |
V607A |
probably benign |
Het |
| Usp45 |
A |
G |
4: 21,798,603 (GRCm39) |
|
probably null |
Het |
| Vmn1r13 |
C |
A |
6: 57,186,979 (GRCm39) |
T46N |
probably benign |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,873 (GRCm39) |
T63A |
probably benign |
Het |
| Vmn2r82 |
T |
A |
10: 79,232,391 (GRCm39) |
W797R |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,198,800 (GRCm39) |
D287E |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,475,046 (GRCm39) |
L660F |
probably damaging |
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 |
|
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 |
|
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'- TCCCAGGACAGTCCAGAGAATGAG -3'
(R):5'- ACAGGGTTCCCCACATCAGAAGAAG -3'
Sequencing Primer
(F):5'- ATGAGCTGGGGCTGGAC -3'
(R):5'- aagagtgggtggagaggg -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation