Incidental Mutation 'IGL01934:Vill'
ID |
180586 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vill
|
Ensembl Gene |
ENSMUSG00000038775 |
Gene Name |
villin-like |
Synonyms |
Villp |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
IGL01934
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 118895877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 146
(A146S)
|
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 damaging
Transcript: ENSMUST00000051386
AA Change: A530S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000061731 Gene: ENSMUSG00000038775 AA Change: A530S
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 damaging
Transcript: ENSMUST00000074734
AA Change: A530S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000074294 Gene: ENSMUSG00000038775 AA Change: A530S
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: A85S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116262 Gene: ENSMUSG00000038775 AA Change: A85S
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 damaging
Transcript: ENSMUST00000136561
AA Change: A138S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123393 Gene: ENSMUSG00000038775 AA Change: A138S
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: A146S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116546 Gene: ENSMUSG00000038775 AA Change: A146S
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213464
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214470
|
Coding Region Coverage |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,823,112 (GRCm39) |
K362E |
probably damaging |
Het |
4932438H23Rik |
T |
A |
16: 90,852,753 (GRCm39) |
T128S |
probably damaging |
Het |
Aars1 |
T |
A |
8: 111,774,650 (GRCm39) |
I593N |
probably damaging |
Het |
Abca6 |
A |
T |
11: 110,079,481 (GRCm39) |
N1224K |
probably benign |
Het |
Abcc5 |
A |
T |
16: 20,241,191 (GRCm39) |
|
probably benign |
Het |
Adam7 |
A |
G |
14: 68,770,048 (GRCm39) |
L35P |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,980,021 (GRCm39) |
L435Q |
probably damaging |
Het |
Ankef1 |
A |
G |
2: 136,394,451 (GRCm39) |
E620G |
possibly damaging |
Het |
Aoc1l3 |
A |
T |
6: 48,965,695 (GRCm39) |
I568F |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,545,092 (GRCm39) |
L1082* |
probably null |
Het |
Atp6v0a4 |
T |
A |
6: 38,028,481 (GRCm39) |
I712F |
possibly damaging |
Het |
Bco1 |
T |
A |
8: 117,822,784 (GRCm39) |
F5L |
possibly damaging |
Het |
Cacna2d4 |
A |
T |
6: 119,285,729 (GRCm39) |
S794C |
probably damaging |
Het |
Camk2d |
T |
C |
3: 126,628,304 (GRCm39) |
|
probably null |
Het |
Capn15 |
T |
C |
17: 26,181,998 (GRCm39) |
T604A |
probably damaging |
Het |
Cd180 |
A |
T |
13: 102,839,366 (GRCm39) |
D83V |
probably damaging |
Het |
Ces1a |
C |
A |
8: 93,759,278 (GRCm39) |
R286L |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,575,858 (GRCm39) |
|
probably null |
Het |
Crnkl1 |
A |
G |
2: 145,773,202 (GRCm39) |
V148A |
probably benign |
Het |
Epas1 |
A |
T |
17: 87,131,157 (GRCm39) |
K312N |
probably damaging |
Het |
Fbxw2 |
T |
C |
2: 34,712,618 (GRCm39) |
S148G |
probably damaging |
Het |
Fig4 |
T |
C |
10: 41,104,108 (GRCm39) |
T791A |
probably benign |
Het |
Galnt9 |
A |
T |
5: 110,750,502 (GRCm39) |
I340F |
possibly damaging |
Het |
Gfap |
G |
A |
11: 102,785,286 (GRCm39) |
A230V |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm454 |
T |
C |
5: 138,205,424 (GRCm39) |
|
noncoding transcript |
Het |
Il24 |
A |
T |
1: 130,811,614 (GRCm39) |
L115Q |
probably damaging |
Het |
Ipp |
C |
A |
4: 116,367,852 (GRCm39) |
N28K |
probably damaging |
Het |
Kalrn |
A |
T |
16: 34,018,882 (GRCm39) |
|
probably null |
Het |
Klf10 |
C |
T |
15: 38,297,528 (GRCm39) |
V171M |
probably benign |
Het |
Man1b1 |
T |
C |
2: 25,235,523 (GRCm39) |
S350P |
probably benign |
Het |
Mfsd4a |
T |
C |
1: 131,974,049 (GRCm39) |
Y343C |
probably damaging |
Het |
Mrpl58 |
C |
A |
11: 115,301,555 (GRCm39) |
|
probably benign |
Het |
Myo7b |
A |
G |
18: 32,134,394 (GRCm39) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,339,880 (GRCm39) |
|
probably benign |
Het |
Nisch |
A |
G |
14: 30,898,696 (GRCm39) |
|
probably benign |
Het |
Or1o2 |
A |
T |
17: 37,542,439 (GRCm39) |
V274D |
probably damaging |
Het |
Or52z14 |
T |
C |
7: 103,253,182 (GRCm39) |
F107S |
probably damaging |
Het |
Or5p69 |
A |
G |
7: 107,967,368 (GRCm39) |
I224V |
probably damaging |
Het |
Parva |
T |
A |
7: 112,187,760 (GRCm39) |
C352* |
probably null |
Het |
Ptf1a |
T |
A |
2: 19,451,431 (GRCm39) |
C254S |
possibly damaging |
Het |
R3hdm1 |
G |
T |
1: 128,164,272 (GRCm39) |
R1062L |
probably benign |
Het |
Rnf44 |
A |
G |
13: 54,829,763 (GRCm39) |
V407A |
probably damaging |
Het |
Shank3 |
T |
C |
15: 89,434,049 (GRCm39) |
L1598P |
probably damaging |
Het |
Slit2 |
T |
C |
5: 48,395,747 (GRCm39) |
S717P |
possibly damaging |
Het |
Tdpoz4 |
A |
G |
3: 93,704,779 (GRCm39) |
K359E |
probably damaging |
Het |
Tmtc4 |
A |
T |
14: 123,165,047 (GRCm39) |
L604* |
probably null |
Het |
Tnfrsf21 |
A |
T |
17: 43,376,078 (GRCm39) |
N488I |
probably benign |
Het |
Tnfsf8 |
A |
G |
4: 63,752,747 (GRCm39) |
|
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,575,019 (GRCm39) |
L382M |
probably benign |
Het |
Tut1 |
T |
C |
19: 8,931,355 (GRCm39) |
C18R |
probably damaging |
Het |
Ugt8a |
A |
G |
3: 125,708,424 (GRCm39) |
S229P |
probably benign |
Het |
Usp22 |
T |
C |
11: 61,046,114 (GRCm39) |
E476G |
probably damaging |
Het |
Vmn1r178 |
T |
C |
7: 23,593,362 (GRCm39) |
Y137H |
probably damaging |
Het |
Wdfy1 |
A |
T |
1: 79,717,833 (GRCm39) |
W51R |
probably damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,296,768 (GRCm39) |
|
probably null |
Het |
Zfp236 |
A |
T |
18: 82,651,245 (GRCm39) |
V889E |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,486,277 (GRCm39) |
D141G |
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 |
|
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 |
|
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 |
|
Posted On |
2014-05-07 |