Incidental Mutation 'R8847:Vill'
| ID |
674767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vill
|
| Ensembl Gene |
ENSMUSG00000038775 |
| Gene Name |
villin-like |
| Synonyms |
Villp |
| MMRRC Submission |
068735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8847 (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 T
at 118897514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 647
(T647I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061731
(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: T647I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: T647I
| 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: T647I
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: T647I
| 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: T202I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775
AA Change: T202I
| 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: T263I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775
AA Change: T263I
| 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 |
probably benign
Transcript: ENSMUST00000213464
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214470
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
C |
8: 41,206,746 (GRCm39) |
R4T |
probably benign |
Het |
| Alk |
T |
A |
17: 72,256,820 (GRCm39) |
I680F |
probably benign |
Het |
| Best3 |
A |
G |
10: 116,824,572 (GRCm39) |
T13A |
possibly damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,872,082 (GRCm39) |
D59G |
|
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Cic |
G |
A |
7: 24,970,631 (GRCm39) |
V121M |
probably damaging |
Het |
| Clasp1 |
C |
G |
1: 118,506,705 (GRCm39) |
P1280R |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,741,472 (GRCm39) |
N2482K |
possibly damaging |
Het |
| Crebbp |
A |
G |
16: 3,902,891 (GRCm39) |
M2116T |
probably benign |
Het |
| Ddn |
T |
C |
15: 98,704,794 (GRCm39) |
E166G |
possibly damaging |
Het |
| Dennd6a |
C |
T |
14: 26,327,086 (GRCm39) |
T249I |
probably benign |
Het |
| Diaph1 |
A |
T |
18: 37,987,590 (GRCm39) |
D1055E |
possibly damaging |
Het |
| Dnajc13 |
C |
A |
9: 104,057,360 (GRCm39) |
G1547* |
probably null |
Het |
| Dvl1 |
C |
T |
4: 155,942,611 (GRCm39) |
R626C |
possibly damaging |
Het |
| Fer1l6 |
A |
C |
15: 58,414,012 (GRCm39) |
K13Q |
possibly damaging |
Het |
| Fry |
G |
A |
5: 150,309,472 (GRCm39) |
E639K |
|
Het |
| Gm6408 |
G |
T |
5: 146,420,602 (GRCm39) |
V161L |
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,372,010 (GRCm39) |
N509K |
unknown |
Het |
| Hycc2 |
G |
T |
1: 58,595,713 (GRCm39) |
P55Q |
probably damaging |
Het |
| Ints13 |
T |
C |
6: 146,457,631 (GRCm39) |
T416A |
probably benign |
Het |
| Iqcf6 |
A |
T |
9: 106,504,650 (GRCm39) |
M105L |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,922,334 (GRCm39) |
R1461L |
probably benign |
Het |
| Map3k8 |
A |
T |
18: 4,333,889 (GRCm39) |
L401Q |
|
Het |
| Miga2 |
G |
T |
2: 30,273,990 (GRCm39) |
R542L |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,454,209 (GRCm39) |
V96E |
possibly damaging |
Het |
| Nek5 |
T |
C |
8: 22,613,595 (GRCm39) |
S28G |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,575,929 (GRCm39) |
E351G |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,803,962 (GRCm39) |
|
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,323,987 (GRCm39) |
L1275P |
probably damaging |
Het |
| Nphp4 |
C |
T |
4: 152,590,863 (GRCm39) |
R287C |
probably damaging |
Het |
| Or10ak11 |
T |
C |
4: 118,686,821 (GRCm39) |
D271G |
probably damaging |
Het |
| Or13a20 |
G |
C |
7: 140,232,326 (GRCm39) |
A145P |
possibly damaging |
Het |
| Or1j13 |
G |
A |
2: 36,369,483 (GRCm39) |
R220* |
probably null |
Het |
| Or1p1c |
C |
T |
11: 74,160,443 (GRCm39) |
T76I |
probably damaging |
Het |
| Parn |
A |
T |
16: 13,446,270 (GRCm39) |
L343* |
probably null |
Het |
| Pax5 |
T |
A |
4: 44,691,865 (GRCm39) |
D127V |
probably benign |
Het |
| Peak1 |
C |
A |
9: 56,114,427 (GRCm39) |
D1505Y |
probably damaging |
Het |
| Perm1 |
C |
T |
4: 156,302,068 (GRCm39) |
T204I |
probably benign |
Het |
| Pid1 |
A |
T |
1: 84,093,694 (GRCm39) |
S65T |
unknown |
Het |
| Pkn2 |
A |
G |
3: 142,526,401 (GRCm39) |
V392A |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,878,479 (GRCm39) |
D578G |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,562,747 (GRCm39) |
L572Q |
probably damaging |
Het |
| Pum3 |
G |
A |
19: 27,398,713 (GRCm39) |
T279M |
probably damaging |
Het |
| Rasa2 |
A |
G |
9: 96,458,402 (GRCm39) |
V266A |
possibly damaging |
Het |
| Sirpb1c |
C |
T |
3: 15,886,584 (GRCm39) |
W264* |
probably null |
Het |
| Slc35g3 |
A |
T |
11: 69,651,399 (GRCm39) |
Y195* |
probably null |
Het |
| Slk |
T |
A |
19: 47,607,632 (GRCm39) |
H289Q |
|
Het |
| Spef2 |
T |
C |
15: 9,668,913 (GRCm39) |
S758G |
probably benign |
Het |
| Spon2 |
C |
T |
5: 33,371,841 (GRCm39) |
A322T |
probably benign |
Het |
| Spred2 |
T |
C |
11: 19,951,064 (GRCm39) |
L87P |
probably benign |
Het |
| Stk10 |
A |
G |
11: 32,539,427 (GRCm39) |
D269G |
|
Het |
| Tex48 |
T |
A |
4: 63,530,772 (GRCm39) |
|
probably benign |
Het |
| Themis2 |
T |
A |
4: 132,513,509 (GRCm39) |
H239L |
probably damaging |
Het |
| Tle4 |
T |
A |
19: 14,493,737 (GRCm39) |
R199* |
probably null |
Het |
| Tlr11 |
C |
T |
14: 50,600,182 (GRCm39) |
H723Y |
possibly damaging |
Het |
| Trdj2 |
T |
A |
14: 54,374,237 (GRCm39) |
S1T |
|
Het |
| Vdac1 |
T |
G |
11: 52,267,230 (GRCm39) |
S44A |
|
Het |
| Vmn1r61 |
A |
G |
7: 5,613,817 (GRCm39) |
C166R |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,528,986 (GRCm39) |
N372I |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,816,217 (GRCm39) |
M713L |
probably benign |
Het |
| Vmn2r61 |
T |
C |
7: 41,950,010 (GRCm39) |
V810A |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,590,212 (GRCm39) |
L568Q |
probably damaging |
Het |
| Wdr7 |
T |
C |
18: 63,872,293 (GRCm39) |
V409A |
probably damaging |
Het |
| Ylpm1 |
C |
A |
12: 85,061,672 (GRCm39) |
N524K |
unknown |
Het |
| Zfp958 |
A |
C |
8: 4,678,434 (GRCm39) |
H153P |
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 |
|
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'- AAGAGCTGCTTTCCCTGAGG -3'
(R):5'- AAAGAGTCCCCTGTGCTACC -3'
Sequencing Primer
(F):5'- CAAGGGCCAGTGTGGTC -3'
(R):5'- GTCACACACAGCATCATGGGG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation