Incidental Mutation 'R9290:Vill'
| ID |
704222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vill
|
| Ensembl Gene |
ENSMUSG00000038775 |
| Gene Name |
villin-like |
| Synonyms |
Villp |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R9290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 118890562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 158
(N158K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061731
(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: N158K
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: N158K
| 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: N158K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: N158K
| 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 |
noncoding transcript
Transcript: ENSMUST00000135872
|
| 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 |
0.1373 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (67/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
A |
G |
1: 156,457,538 (GRCm39) |
K268R |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,338,330 (GRCm39) |
D464G |
probably damaging |
Het |
| Adra1d |
G |
T |
2: 131,403,898 (GRCm39) |
T64K |
probably benign |
Het |
| Cct3 |
T |
C |
3: 88,216,536 (GRCm39) |
V164A |
probably benign |
Het |
| Cdhr2 |
T |
C |
13: 54,882,009 (GRCm39) |
V1153A |
possibly damaging |
Het |
| Cdkn2c |
A |
C |
4: 109,518,512 (GRCm39) |
Y147* |
probably null |
Het |
| Ces1g |
A |
T |
8: 94,029,545 (GRCm39) |
H562Q |
probably benign |
Het |
| Cfap221 |
A |
G |
1: 119,853,381 (GRCm39) |
L771P |
probably benign |
Het |
| Chsy3 |
A |
G |
18: 59,542,928 (GRCm39) |
M689V |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,326,513 (GRCm39) |
S235T |
probably damaging |
Het |
| Cracdl |
T |
A |
1: 37,663,634 (GRCm39) |
R755W |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,386,313 (GRCm39) |
K396E |
probably benign |
Het |
| Dgki |
C |
T |
6: 37,276,780 (GRCm39) |
C35Y |
unknown |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dnai7 |
T |
C |
6: 145,148,688 (GRCm39) |
E57G |
unknown |
Het |
| Eif3a |
A |
G |
19: 60,765,221 (GRCm39) |
V322A |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,197,120 (GRCm39) |
Q54L |
possibly damaging |
Het |
| Garin2 |
T |
A |
12: 78,759,028 (GRCm39) |
V116E |
possibly damaging |
Het |
| Gm19410 |
T |
A |
8: 36,269,386 (GRCm39) |
C1074S |
probably damaging |
Het |
| Gtf3c3 |
T |
G |
1: 54,477,997 (GRCm39) |
E26A |
possibly damaging |
Het |
| Hps5 |
T |
C |
7: 46,424,331 (GRCm39) |
E514G |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,302,647 (GRCm39) |
D154E |
|
Het |
| Insm1 |
T |
C |
2: 146,065,273 (GRCm39) |
V363A |
probably benign |
Het |
| Iqgap2 |
A |
T |
13: 95,886,523 (GRCm39) |
M120K |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,023,488 (GRCm39) |
I527F |
probably benign |
Het |
| Lrtm2 |
A |
G |
6: 119,297,792 (GRCm39) |
L83P |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,131,014 (GRCm39) |
E372G |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,425,960 (GRCm39) |
H2421Q |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,997,375 (GRCm39) |
E1731G |
probably damaging |
Het |
| Myt1 |
A |
T |
2: 181,437,667 (GRCm39) |
H168L |
probably benign |
Het |
| Nxph4 |
A |
T |
10: 127,362,546 (GRCm39) |
V115E |
probably damaging |
Het |
| Ofcc1 |
A |
T |
13: 40,433,802 (GRCm39) |
I101N |
possibly damaging |
Het |
| Oog2 |
T |
C |
4: 143,923,015 (GRCm39) |
F427L |
probably benign |
Het |
| Or4c115 |
A |
G |
2: 88,928,076 (GRCm39) |
L65P |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,774,967 (GRCm39) |
I278N |
possibly damaging |
Het |
| Or5w11 |
A |
G |
2: 87,459,209 (GRCm39) |
N18S |
probably benign |
Het |
| Or8b48 |
T |
C |
9: 38,493,334 (GRCm39) |
S254P |
probably damaging |
Het |
| Or8g27 |
A |
G |
9: 39,129,531 (GRCm39) |
R293G |
probably damaging |
Het |
| Otop1 |
T |
G |
5: 38,455,302 (GRCm39) |
I232S |
probably benign |
Het |
| Pak6 |
G |
A |
2: 118,523,883 (GRCm39) |
R346Q |
probably damaging |
Het |
| Pbk |
A |
T |
14: 66,054,713 (GRCm39) |
M282L |
probably benign |
Het |
| Pmpcb |
T |
C |
5: 21,944,009 (GRCm39) |
|
probably null |
Het |
| Pou5f2 |
T |
A |
13: 78,173,585 (GRCm39) |
W176R |
probably damaging |
Het |
| Prkra |
G |
T |
2: 76,478,147 (GRCm39) |
S18R |
probably benign |
Het |
| Prune2 |
G |
T |
19: 17,145,691 (GRCm39) |
A2764S |
probably benign |
Het |
| Ptpdc1 |
A |
T |
13: 48,740,221 (GRCm39) |
D403E |
probably benign |
Het |
| Pxylp1 |
T |
C |
9: 96,722,089 (GRCm39) |
E54G |
probably damaging |
Het |
| Rap1gap |
G |
A |
4: 137,446,222 (GRCm39) |
A325T |
probably damaging |
Het |
| Raver2 |
G |
A |
4: 100,977,387 (GRCm39) |
|
probably benign |
Het |
| Rbpj |
T |
C |
5: 53,810,745 (GRCm39) |
V455A |
probably damaging |
Het |
| Rptor |
A |
T |
11: 119,702,823 (GRCm39) |
I397F |
probably benign |
Het |
| Sacs |
G |
A |
14: 61,421,499 (GRCm39) |
M148I |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,373,816 (GRCm39) |
Q496R |
probably damaging |
Het |
| Sned1 |
C |
A |
1: 93,199,385 (GRCm39) |
C488* |
probably null |
Het |
| Snupn |
G |
T |
9: 56,882,547 (GRCm39) |
V187F |
possibly damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,183,225 (GRCm39) |
D1016G |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,045,204 (GRCm39) |
M1517T |
possibly damaging |
Het |
| Them4 |
G |
T |
3: 94,231,630 (GRCm39) |
G156C |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,675,124 (GRCm39) |
S721P |
probably benign |
Het |
| Trpm8 |
T |
C |
1: 88,246,767 (GRCm39) |
S26P |
probably damaging |
Het |
| Ube2e3 |
A |
G |
2: 78,750,324 (GRCm39) |
I183M |
probably damaging |
Het |
| Uhrf2 |
A |
G |
19: 30,055,416 (GRCm39) |
Y389C |
probably damaging |
Het |
| Utp4 |
T |
A |
8: 107,642,828 (GRCm39) |
D495E |
possibly damaging |
Het |
| Vmn1r219 |
G |
A |
13: 23,347,399 (GRCm39) |
G196E |
probably damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,811,395 (GRCm39) |
S493L |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,915,385 (GRCm39) |
T111A |
probably benign |
Het |
| Zbtb40 |
G |
T |
4: 136,745,529 (GRCm39) |
A168E |
probably benign |
Het |
| Zscan18 |
A |
T |
7: 12,508,054 (GRCm39) |
I482N |
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 |
|
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 |
|
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 |
|
|
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'- AATGACATGCCCTGCCTTG -3'
(R):5'- CCTAGCCTGTATCTAGTAGACGCC -3'
Sequencing Primer
(F):5'- ACATGCCCTGCCTTGCTCTC -3'
(R):5'- GCCCTTTGGGTGGAAACAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation