Incidental Mutation 'R1168:Vill'
| ID |
101343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vill
|
| Ensembl Gene |
ENSMUSG00000038775 |
| Gene Name |
villin-like |
| Synonyms |
Villp |
| MMRRC Submission |
039241-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R1168 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 118899389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 343
(P343Q)
|
| 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 benign
Transcript: ENSMUST00000051386
AA Change: P727Q
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: P727Q
| 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
AA Change: P665Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: P665Q
| 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 |
possibly damaging
Transcript: ENSMUST00000126251
AA Change: P282Q
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775
AA Change: P282Q
| 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: P343Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775
AA Change: P343Q
| 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 |
probably benign
Transcript: ENSMUST00000213464
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153630
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.2%
- 20x: 88.8%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,773,661 (GRCm39) |
V950A |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,865,280 (GRCm39) |
S188T |
probably benign |
Het |
| Ahr |
A |
T |
12: 35,554,531 (GRCm39) |
N529K |
possibly damaging |
Het |
| Akr1c21 |
A |
G |
13: 4,633,836 (GRCm39) |
N302D |
probably benign |
Het |
| Aldh8a1 |
T |
A |
10: 21,260,530 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
T |
7: 80,753,105 (GRCm39) |
K1554M |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,250,330 (GRCm39) |
H360Q |
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,306,130 (GRCm39) |
I1293V |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
| Cd200r4 |
T |
A |
16: 44,653,307 (GRCm39) |
W72R |
probably damaging |
Het |
| Ces2e |
A |
T |
8: 105,653,646 (GRCm39) |
D28V |
possibly damaging |
Het |
| Cfap20dc |
T |
C |
14: 8,442,939 (GRCm38) |
N610S |
probably benign |
Het |
| Cfap45 |
T |
C |
1: 172,373,264 (GRCm39) |
Y534H |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,773,782 (GRCm39) |
C87S |
probably damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Chrna4 |
T |
A |
2: 180,675,931 (GRCm39) |
M67L |
possibly damaging |
Het |
| Cplx3 |
G |
A |
9: 57,515,595 (GRCm39) |
R427C |
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,501,631 (GRCm39) |
N290Y |
probably damaging |
Het |
| Enpp6 |
A |
T |
8: 47,483,489 (GRCm39) |
M94L |
probably damaging |
Het |
| Fam83d |
C |
T |
2: 158,610,443 (GRCm39) |
A137V |
probably benign |
Het |
| Foxd2 |
C |
T |
4: 114,764,875 (GRCm39) |
A382T |
possibly damaging |
Het |
| Galnt11 |
T |
G |
5: 25,455,244 (GRCm39) |
S193R |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,594,481 (GRCm39) |
D856E |
probably damaging |
Het |
| Gclm |
T |
A |
3: 122,056,337 (GRCm39) |
H86Q |
possibly damaging |
Het |
| Gipc2 |
T |
C |
3: 151,813,634 (GRCm39) |
T220A |
probably benign |
Het |
| Gm12185 |
G |
T |
11: 48,806,182 (GRCm39) |
N336K |
possibly damaging |
Het |
| Gm5431 |
A |
T |
11: 48,786,191 (GRCm39) |
S61R |
probably benign |
Het |
| Gorasp2 |
C |
T |
2: 70,518,744 (GRCm39) |
P260S |
probably damaging |
Het |
| H2-M10.6 |
A |
G |
17: 37,124,052 (GRCm39) |
Q172R |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,450,018 (GRCm39) |
I6V |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,666,658 (GRCm39) |
Y593C |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,495,138 (GRCm39) |
K429R |
probably damaging |
Het |
| Itln1 |
G |
T |
1: 171,359,119 (GRCm39) |
Y61* |
probably null |
Het |
| Kif21a |
G |
A |
15: 90,877,956 (GRCm39) |
T284I |
probably damaging |
Het |
| Kif3a |
G |
A |
11: 53,489,139 (GRCm39) |
G621R |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,536,317 (GRCm39) |
Y549C |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,509,776 (GRCm39) |
|
probably benign |
Het |
| Map4 |
T |
C |
9: 109,864,032 (GRCm39) |
V419A |
probably benign |
Het |
| Mastl |
A |
T |
2: 23,023,144 (GRCm39) |
D526E |
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,486,914 (GRCm39) |
D308G |
probably benign |
Het |
| Ncald |
A |
G |
15: 37,397,578 (GRCm39) |
F34S |
probably damaging |
Het |
| Ndc1 |
A |
G |
4: 107,253,009 (GRCm39) |
T593A |
probably benign |
Het |
| Ndst3 |
C |
T |
3: 123,400,617 (GRCm39) |
V15I |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,915,313 (GRCm39) |
N1166D |
probably benign |
Het |
| Or1a1 |
A |
G |
11: 74,087,247 (GRCm39) |
H306R |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,326,787 (GRCm39) |
S147P |
probably benign |
Het |
| Or4a68 |
G |
A |
2: 89,270,213 (GRCm39) |
Q137* |
probably null |
Het |
| Or5m8 |
A |
T |
2: 85,823,028 (GRCm39) |
Y289F |
probably damaging |
Het |
| Pcdhb8 |
T |
C |
18: 37,489,780 (GRCm39) |
I486T |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,152 (GRCm39) |
Y768F |
probably benign |
Het |
| Pgf |
A |
G |
12: 85,218,541 (GRCm39) |
S70P |
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,914,100 (GRCm39) |
A370T |
possibly damaging |
Het |
| Pnkp |
T |
A |
7: 44,511,961 (GRCm39) |
W115R |
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prag1 |
A |
G |
8: 36,613,799 (GRCm39) |
E1117G |
probably damaging |
Het |
| Prr12 |
T |
A |
7: 44,678,471 (GRCm39) |
Q1919L |
unknown |
Het |
| Ret |
G |
T |
6: 118,150,519 (GRCm39) |
H666N |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,745,184 (GRCm39) |
G864S |
probably damaging |
Het |
| Rpa2 |
T |
G |
4: 132,499,171 (GRCm39) |
I80S |
probably damaging |
Het |
| Ryk |
A |
T |
9: 102,775,674 (GRCm39) |
D428V |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,901,204 (GRCm39) |
N30K |
probably damaging |
Het |
| Stbd1 |
A |
G |
5: 92,752,795 (GRCm39) |
N95S |
probably benign |
Het |
| Tbc1d22a |
A |
G |
15: 86,176,335 (GRCm39) |
E212G |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,427,568 (GRCm39) |
T7A |
probably benign |
Het |
| Tmc8 |
T |
C |
11: 117,683,389 (GRCm39) |
V648A |
possibly damaging |
Het |
| Tmem132b |
G |
T |
5: 125,864,083 (GRCm39) |
V730F |
probably damaging |
Het |
| Tmub2 |
G |
A |
11: 102,178,196 (GRCm39) |
G33D |
possibly damaging |
Het |
| Trak1 |
G |
A |
9: 121,269,745 (GRCm39) |
D124N |
probably damaging |
Het |
| Ttc28 |
A |
T |
5: 111,378,977 (GRCm39) |
Y1154F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,739,713 (GRCm39) |
T3609A |
probably benign |
Het |
| Tulp2 |
A |
G |
7: 45,167,266 (GRCm39) |
T99A |
probably benign |
Het |
| Ugt2a2 |
A |
T |
5: 87,613,427 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,410,608 (GRCm39) |
V2419I |
probably benign |
Het |
| Vmn2r66 |
T |
A |
7: 84,656,062 (GRCm39) |
H318L |
possibly damaging |
Het |
| Wdr3 |
A |
C |
3: 100,049,535 (GRCm39) |
N800K |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,398,922 (GRCm39) |
K19E |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,806,436 (GRCm39) |
S333P |
probably damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,500 (GRCm39) |
S488P |
possibly damaging |
Het |
| Zfp804a |
A |
G |
2: 82,087,041 (GRCm39) |
E290G |
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation