Incidental Mutation 'R5646:Vill'
| ID |
441167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vill
|
| Ensembl Gene |
ENSMUSG00000038775 |
| Gene Name |
villin-like |
| Synonyms |
Villp |
| MMRRC Submission |
043294-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5646 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118900230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 365
(D365V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116262
(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 |
possibly damaging
Transcript: ENSMUST00000051386
AA Change: D832V
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: D832V
| 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 |
possibly damaging
Transcript: ENSMUST00000074734
AA Change: D748V
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: D748V
| 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: D365V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775
AA Change: D365V
| 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 |
possibly damaging
Transcript: ENSMUST00000141185
AA Change: D448V
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775
AA Change: D448V
| 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: ENSMUST00000153630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214491
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213464
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214470
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add1 |
C |
A |
5: 34,788,024 (GRCm39) |
A691D |
probably benign |
Het |
| Agap3 |
C |
A |
5: 24,688,395 (GRCm39) |
D394E |
probably benign |
Het |
| Arhgef11 |
T |
C |
3: 87,591,793 (GRCm39) |
V59A |
possibly damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,052,277 (GRCm39) |
V402A |
probably benign |
Het |
| Bbs9 |
T |
C |
9: 22,490,011 (GRCm39) |
F261L |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,987,631 (GRCm39) |
|
probably benign |
Het |
| Camk1 |
A |
G |
6: 113,316,301 (GRCm39) |
V81A |
probably damaging |
Het |
| Cass4 |
T |
G |
2: 172,258,165 (GRCm39) |
C54W |
probably damaging |
Het |
| Ccdc39 |
A |
T |
3: 33,879,699 (GRCm39) |
F456L |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,933,659 (GRCm39) |
E766G |
probably damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,962,339 (GRCm39) |
C171R |
probably damaging |
Het |
| Cdh9 |
G |
A |
15: 16,823,371 (GRCm39) |
E118K |
probably damaging |
Het |
| Col4a2 |
G |
A |
8: 11,491,281 (GRCm39) |
G1227R |
probably damaging |
Het |
| Cyp2d9 |
A |
G |
15: 82,336,665 (GRCm39) |
T5A |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,208,767 (GRCm39) |
D813V |
probably damaging |
Het |
| Dmtf1 |
G |
A |
5: 9,174,515 (GRCm39) |
S405F |
possibly damaging |
Het |
| Drd2 |
A |
G |
9: 49,316,212 (GRCm39) |
K324R |
probably benign |
Het |
| Ergic1 |
T |
C |
17: 26,833,332 (GRCm39) |
S29P |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,087,338 (GRCm39) |
|
probably benign |
Het |
| Foxd2 |
C |
T |
4: 114,765,832 (GRCm39) |
A63T |
unknown |
Het |
| Gfap |
T |
C |
11: 102,782,282 (GRCm39) |
I409M |
probably benign |
Het |
| Gfpt1 |
A |
G |
6: 87,019,981 (GRCm39) |
M1V |
probably null |
Het |
| H2-T23 |
C |
G |
17: 36,342,695 (GRCm39) |
E148Q |
possibly damaging |
Het |
| Hip1 |
G |
A |
5: 135,457,595 (GRCm39) |
R704W |
probably damaging |
Het |
| Kif19a |
A |
C |
11: 114,670,480 (GRCm39) |
D130A |
probably damaging |
Het |
| Lin7b |
T |
C |
7: 45,018,617 (GRCm39) |
D14G |
probably damaging |
Het |
| Meioc |
T |
A |
11: 102,566,083 (GRCm39) |
N510K |
possibly damaging |
Het |
| Mettl5 |
C |
A |
2: 69,711,663 (GRCm39) |
G68* |
probably null |
Het |
| Mitf |
A |
T |
6: 97,990,655 (GRCm39) |
I184F |
probably damaging |
Het |
| Mmp9 |
T |
A |
2: 164,790,970 (GRCm39) |
H119Q |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,407,346 (GRCm39) |
H2768L |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,079,638 (GRCm39) |
I1032F |
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,144,774 (GRCm39) |
I1110T |
probably damaging |
Het |
| Nde1 |
T |
C |
16: 13,987,378 (GRCm39) |
F8L |
probably damaging |
Het |
| Or10aa3 |
C |
T |
1: 173,878,853 (GRCm39) |
Q305* |
probably null |
Het |
| Or2a25 |
A |
G |
6: 42,888,457 (GRCm39) |
|
probably null |
Het |
| Or2h2b-ps1 |
T |
C |
17: 37,480,808 (GRCm39) |
I244V |
probably benign |
Het |
| Or4f47 |
T |
C |
2: 111,973,028 (GRCm39) |
V246A |
possibly damaging |
Het |
| Or51r1 |
A |
C |
7: 102,228,512 (GRCm39) |
Y270S |
possibly damaging |
Het |
| Or5ac20 |
C |
T |
16: 59,104,342 (GRCm39) |
V173I |
probably benign |
Het |
| Or6c202 |
T |
C |
10: 128,996,706 (GRCm39) |
D49G |
possibly damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,859,823 (GRCm39) |
H293R |
probably benign |
Het |
| Pde7a |
A |
T |
3: 19,287,937 (GRCm39) |
L244Q |
probably damaging |
Het |
| Pex14 |
T |
C |
4: 149,045,910 (GRCm39) |
D340G |
probably benign |
Het |
| Pfkfb4 |
A |
T |
9: 108,837,489 (GRCm39) |
I195F |
probably damaging |
Het |
| Pik3c2a |
C |
A |
7: 116,005,186 (GRCm39) |
G361W |
probably damaging |
Het |
| Prkcg |
T |
A |
7: 3,377,597 (GRCm39) |
M517K |
probably damaging |
Het |
| Prob1 |
A |
T |
18: 35,787,167 (GRCm39) |
F362L |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,937 (GRCm39) |
W232* |
probably null |
Het |
| Robo2 |
T |
C |
16: 73,758,707 (GRCm39) |
D688G |
probably damaging |
Het |
| Sec24c |
C |
A |
14: 20,729,641 (GRCm39) |
A73E |
probably benign |
Het |
| Slc15a3 |
A |
G |
19: 10,820,574 (GRCm39) |
N64D |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,811,782 (GRCm39) |
N65K |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,119,610 (GRCm39) |
S4467P |
probably damaging |
Het |
| Sptb |
G |
T |
12: 76,634,215 (GRCm39) |
D2165E |
probably benign |
Het |
| Sptbn5 |
A |
T |
2: 119,879,292 (GRCm39) |
|
noncoding transcript |
Het |
| Syt12 |
A |
T |
19: 4,506,569 (GRCm39) |
M192K |
possibly damaging |
Het |
| Tas2r107 |
A |
G |
6: 131,636,671 (GRCm39) |
V126A |
probably benign |
Het |
| Thbs3 |
T |
C |
3: 89,126,405 (GRCm39) |
L242P |
probably damaging |
Het |
| Timp2 |
A |
T |
11: 118,208,358 (GRCm39) |
|
probably null |
Het |
| Tmtc1 |
G |
A |
6: 148,148,329 (GRCm39) |
A751V |
probably damaging |
Het |
| Tnni2 |
A |
T |
7: 141,997,650 (GRCm39) |
D85V |
probably damaging |
Het |
| Ttc39b |
G |
A |
4: 83,162,307 (GRCm39) |
P319L |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,622,805 (GRCm39) |
K68M |
probably damaging |
Het |
| Usp25 |
G |
A |
16: 76,847,360 (GRCm39) |
R156Q |
probably benign |
Het |
| Vmn1r65 |
T |
A |
7: 6,012,223 (GRCm39) |
T4S |
probably benign |
Het |
| Vmn2r76 |
C |
A |
7: 85,875,261 (GRCm39) |
C572F |
probably damaging |
Het |
| Vps26a |
A |
C |
10: 62,304,077 (GRCm39) |
N181K |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,341,134 (GRCm39) |
L1125P |
probably damaging |
Het |
| Zbtb41 |
T |
G |
1: 139,351,501 (GRCm39) |
S205A |
probably benign |
Het |
| Zfp438 |
T |
C |
18: 5,214,526 (GRCm39) |
D144G |
probably benign |
Het |
| Zfp600 |
T |
C |
4: 146,131,670 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp84 |
C |
T |
7: 29,475,818 (GRCm39) |
T170M |
probably benign |
Het |
| Zmiz2 |
T |
A |
11: 6,352,837 (GRCm39) |
D654E |
probably damaging |
Het |
| Zswim4 |
A |
T |
8: 84,957,739 (GRCm39) |
|
probably null |
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 |
|
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'- AATGAATGACACCTCCGGGATG -3'
(R):5'- AGCAGTCAGAAGGAATCCTTTC -3'
Sequencing Primer
(F):5'- TGGGACAGGAATCTGGGCTC -3'
(R):5'- AAGACGGTGTCCCAGAGTGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation