Incidental Mutation 'R4889:Vill'
| ID |
377201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vill
|
| Ensembl Gene |
ENSMUSG00000038775 |
| Gene Name |
villin-like |
| Synonyms |
Villp |
| MMRRC Submission |
042494-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R4889 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118892409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 347
(S347P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051386]
[ENSMUST00000074734]
[ENSMUST00000126251]
[ENSMUST00000131647]
[ENSMUST00000136561]
[ENSMUST00000141185]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051386
AA Change: S347P
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: S347P
| 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: S347P
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: S347P
| 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: ENSMUST00000131647
|
| SMART Domains |
Protein: ENSMUSP00000118375
Gene: ENSMUSG00000038775
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1d4xg_
|
7 |
85 |
6e-23 |
SMART |
|
Blast:GEL
|
14 |
85 |
1e-48 |
BLAST |
|
PDB:2VIL|A
|
15 |
82 |
1e-15 |
PDB |
|
| 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: ENSMUST00000151638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153630
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (59/60) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ado |
G |
C |
10: 67,384,135 (GRCm39) |
R157G |
probably benign |
Het |
| Akap12 |
C |
A |
10: 4,306,535 (GRCm39) |
A1115E |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,711,787 (GRCm39) |
M196V |
probably null |
Het |
| Appl2 |
G |
A |
10: 83,476,922 (GRCm39) |
T34I |
probably damaging |
Het |
| Arhgap21 |
T |
C |
2: 20,885,279 (GRCm39) |
S472G |
probably benign |
Het |
| Asmt |
G |
T |
X: 169,110,764 (GRCm39) |
R250L |
possibly damaging |
Het |
| Baz2b |
A |
T |
2: 59,767,070 (GRCm39) |
I870N |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,871,700 (GRCm39) |
Q667R |
possibly damaging |
Het |
| Cercam |
A |
G |
2: 29,771,845 (GRCm39) |
D555G |
probably damaging |
Het |
| Cop1 |
A |
T |
1: 159,112,159 (GRCm39) |
R284S |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,858,893 (GRCm39) |
V9A |
possibly damaging |
Het |
| Ctsm |
A |
G |
13: 61,686,215 (GRCm39) |
F106S |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,356,895 (GRCm39) |
L118Q |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,235,938 (GRCm39) |
C355F |
probably benign |
Het |
| Dock1 |
C |
A |
7: 134,346,705 (GRCm39) |
N212K |
probably benign |
Het |
| Efemp2 |
T |
A |
19: 5,525,148 (GRCm39) |
L18Q |
probably null |
Het |
| Flvcr1 |
A |
G |
1: 190,757,764 (GRCm39) |
L176P |
probably damaging |
Het |
| Gm16505 |
A |
T |
13: 3,411,125 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6457 |
A |
T |
18: 14,703,501 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
A |
G |
10: 88,269,775 (GRCm39) |
N826S |
probably benign |
Het |
| Hdc |
T |
G |
2: 126,436,053 (GRCm39) |
N606T |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,127 (GRCm39) |
D113G |
probably benign |
Het |
| Maml3 |
C |
T |
3: 51,601,931 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
A |
T |
6: 39,396,939 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,723,238 (GRCm39) |
V720A |
probably damaging |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,447 (GRCm39) |
|
probably null |
Het |
| Npat |
T |
C |
9: 53,473,507 (GRCm39) |
I433T |
probably benign |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or10ag53 |
A |
T |
2: 87,082,991 (GRCm39) |
I237F |
probably damaging |
Het |
| Or1l4 |
A |
G |
2: 37,092,057 (GRCm39) |
Y268C |
probably damaging |
Het |
| Or5m12 |
C |
T |
2: 85,735,092 (GRCm39) |
C102Y |
possibly damaging |
Het |
| Pde6c |
T |
A |
19: 38,121,599 (GRCm39) |
M69K |
probably benign |
Het |
| Pde7b |
T |
C |
10: 20,423,823 (GRCm39) |
T18A |
probably benign |
Het |
| Plcz1 |
T |
C |
6: 139,953,474 (GRCm39) |
K381R |
probably benign |
Het |
| Ppfia4 |
A |
C |
1: 134,228,252 (GRCm39) |
F1095V |
probably damaging |
Het |
| Sfxn3 |
T |
C |
19: 45,038,254 (GRCm39) |
F78S |
probably damaging |
Het |
| Sim1 |
A |
T |
10: 50,857,420 (GRCm39) |
Y390F |
probably benign |
Het |
| Slc25a31 |
A |
G |
3: 40,675,975 (GRCm39) |
I174V |
probably benign |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Slco1b2 |
T |
G |
6: 141,602,469 (GRCm39) |
|
probably benign |
Het |
| Smarca5 |
C |
A |
8: 81,431,326 (GRCm39) |
D964Y |
possibly damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,779,458 (GRCm39) |
S338R |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,137,719 (GRCm39) |
V1023A |
possibly damaging |
Het |
| Syt16 |
A |
G |
12: 74,176,269 (GRCm39) |
E46G |
probably damaging |
Het |
| Tas2r114 |
A |
T |
6: 131,666,758 (GRCm39) |
I90K |
probably damaging |
Het |
| Tlx1 |
G |
T |
19: 45,139,418 (GRCm39) |
D22Y |
probably damaging |
Het |
| Vamp8 |
G |
A |
6: 72,362,522 (GRCm39) |
L93F |
possibly damaging |
Het |
| Zfp974 |
A |
G |
7: 27,610,244 (GRCm39) |
Y494H |
possibly 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 |
|
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 |
|
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'- AGAGCTTGGGCATCCTTGTG -3'
(R):5'- TGATGTTCTTCAGGACCACC -3'
Sequencing Primer
(F):5'- CATCCTTGTGGCCACGGTTG -3'
(R):5'- ATCTCACAGGGTCCCGGAC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation