Incidental Mutation 'R6690:Vill'
| ID |
530387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vill
|
| Ensembl Gene |
ENSMUSG00000038775 |
| Gene Name |
villin-like |
| Synonyms |
Villp |
| MMRRC Submission |
044808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6690 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118890975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 194
(T194A)
|
| 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: T194A
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: T194A
| 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: T194A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: T194A
| 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 |
0.0787 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,115,062 (GRCm39) |
G628D |
probably damaging |
Het |
| Ahnak |
G |
T |
19: 8,986,945 (GRCm39) |
G2743V |
probably benign |
Het |
| Akr1c14 |
A |
T |
13: 4,113,713 (GRCm39) |
T82S |
possibly damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,904,700 (GRCm39) |
T113A |
probably benign |
Het |
| Cep152 |
A |
T |
2: 125,406,290 (GRCm39) |
L1414Q |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,464,694 (GRCm39) |
E658G |
possibly damaging |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Coro6 |
A |
G |
11: 77,356,606 (GRCm39) |
T105A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,368,971 (GRCm39) |
I232T |
probably damaging |
Het |
| Dmrt1 |
A |
G |
19: 25,523,449 (GRCm39) |
T267A |
probably benign |
Het |
| Fam149a |
G |
T |
8: 45,802,071 (GRCm39) |
A387E |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,037,688 (GRCm39) |
G3780D |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,910,824 (GRCm39) |
L1998* |
probably null |
Het |
| Iqcf6 |
C |
T |
9: 106,504,501 (GRCm39) |
T55I |
possibly damaging |
Het |
| Mterf3 |
G |
A |
13: 67,065,110 (GRCm39) |
L264F |
probably damaging |
Het |
| Or10k2 |
G |
T |
8: 84,267,904 (GRCm39) |
V44L |
probably benign |
Het |
| Or8g32 |
A |
G |
9: 39,305,845 (GRCm39) |
I253V |
probably benign |
Het |
| Pcdhgb7 |
A |
T |
18: 37,886,050 (GRCm39) |
I407F |
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,620,393 (GRCm39) |
D114G |
probably damaging |
Het |
| Plbd1 |
G |
T |
6: 136,612,598 (GRCm39) |
N198K |
probably damaging |
Het |
| Prkcb |
T |
C |
7: 121,888,737 (GRCm39) |
I57T |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,769,558 (GRCm39) |
|
probably null |
Het |
| Slc26a8 |
A |
G |
17: 28,863,629 (GRCm39) |
I710T |
possibly damaging |
Het |
| Smc2 |
A |
T |
4: 52,449,375 (GRCm39) |
I179L |
probably benign |
Het |
| Tmub2 |
C |
T |
11: 102,178,345 (GRCm39) |
H83Y |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,851,710 (GRCm39) |
D785Y |
possibly damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,890 (GRCm39) |
D174G |
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 |
|
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'- GGCGTCTACTAGATACAGGC -3'
(R):5'- AGTTCTGCTCACTGGTAGAGG -3'
Sequencing Primer
(F):5'- CGTCTACTAGATACAGGCTAGGTTC -3'
(R):5'- CTCACTGGTAGAGGCGGACATTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation