Incidental Mutation 'R1946:Vill'
ID |
216694 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vill
|
Ensembl Gene |
ENSMUSG00000038775 |
Gene Name |
villin-like |
Synonyms |
Villp |
MMRRC Submission |
039964-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R1946 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 118887560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 108
(H108L)
|
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: H108L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000061731 Gene: ENSMUSG00000038775 AA Change: H108L
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: H108L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000074294 Gene: ENSMUSG00000038775 AA Change: H108L
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: ENSMUST00000153454
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151638
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153630
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
G |
5: 77,039,551 (GRCm39) |
S253P |
probably damaging |
Het |
Adamts5 |
C |
A |
16: 85,696,131 (GRCm39) |
C342F |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,522,368 (GRCm39) |
C5923Y |
probably damaging |
Het |
Aen |
G |
C |
7: 78,552,420 (GRCm39) |
E32Q |
probably damaging |
Het |
Apba2 |
T |
C |
7: 64,394,378 (GRCm39) |
|
probably null |
Het |
Arhgap44 |
A |
G |
11: 64,902,922 (GRCm39) |
M509T |
probably damaging |
Het |
Arpc1b |
A |
G |
5: 145,059,443 (GRCm39) |
T56A |
probably null |
Het |
Atoh1 |
T |
C |
6: 64,706,443 (GRCm39) |
V46A |
probably benign |
Het |
Bmpr2 |
T |
C |
1: 59,907,556 (GRCm39) |
V883A |
possibly damaging |
Het |
Bpifa1 |
A |
T |
2: 153,987,554 (GRCm39) |
I135F |
probably damaging |
Het |
Bsn |
A |
G |
9: 107,991,850 (GRCm39) |
F1301L |
probably damaging |
Het |
Capn13 |
T |
C |
17: 73,657,520 (GRCm39) |
E240G |
possibly damaging |
Het |
Ccdc18 |
A |
G |
5: 108,376,861 (GRCm39) |
E1434G |
probably damaging |
Het |
Coq8b |
G |
A |
7: 26,939,299 (GRCm39) |
V150I |
possibly damaging |
Het |
Cpn1 |
G |
A |
19: 43,944,957 (GRCm39) |
T450M |
probably benign |
Het |
Dlg4 |
A |
G |
11: 69,930,401 (GRCm39) |
Y432C |
probably damaging |
Het |
Dnah8 |
C |
A |
17: 30,931,359 (GRCm39) |
T1458K |
probably benign |
Het |
Dock5 |
A |
T |
14: 68,023,765 (GRCm39) |
M1132K |
probably damaging |
Het |
Dsg2 |
A |
G |
18: 20,713,605 (GRCm39) |
D192G |
probably damaging |
Het |
F930017D23Rik |
G |
A |
10: 43,469,440 (GRCm39) |
|
noncoding transcript |
Het |
Fndc11 |
A |
T |
2: 180,863,627 (GRCm39) |
D144V |
probably benign |
Het |
Fut2 |
A |
G |
7: 45,300,748 (GRCm39) |
F8S |
probably damaging |
Het |
Gad2 |
A |
T |
2: 22,575,440 (GRCm39) |
T515S |
probably benign |
Het |
Ganab |
T |
A |
19: 8,888,172 (GRCm39) |
D439E |
probably damaging |
Het |
Gm10228 |
C |
A |
16: 88,838,241 (GRCm39) |
G21V |
unknown |
Het |
Grm3 |
A |
G |
5: 9,562,123 (GRCm39) |
W576R |
probably damaging |
Het |
Gsdmc4 |
C |
A |
15: 63,774,629 (GRCm39) |
D51Y |
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,295,647 (GRCm39) |
S2619P |
probably damaging |
Het |
Kcnq2 |
T |
A |
2: 180,730,244 (GRCm39) |
D446V |
probably benign |
Het |
Kera |
A |
G |
10: 97,445,009 (GRCm39) |
K123E |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,520,152 (GRCm39) |
V1986E |
probably benign |
Het |
Lrp11 |
T |
C |
10: 7,499,540 (GRCm39) |
Y244H |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,555,159 (GRCm39) |
D320V |
unknown |
Het |
Lrrcc1 |
A |
G |
3: 14,615,453 (GRCm39) |
R394G |
probably benign |
Het |
Lrrk2 |
G |
A |
15: 91,620,864 (GRCm39) |
|
probably null |
Het |
Map4k5 |
A |
T |
12: 69,892,529 (GRCm39) |
D133E |
probably damaging |
Het |
Megf11 |
A |
T |
9: 64,586,558 (GRCm39) |
D461V |
probably damaging |
Het |
Msrb3 |
A |
G |
10: 120,687,913 (GRCm39) |
V54A |
probably damaging |
Het |
Muc21 |
A |
T |
17: 35,933,416 (GRCm39) |
|
probably benign |
Het |
Ncoa3 |
T |
A |
2: 165,901,097 (GRCm39) |
N896K |
possibly damaging |
Het |
Ncor2 |
G |
A |
5: 125,111,476 (GRCm39) |
T1314I |
probably damaging |
Het |
Nes |
A |
G |
3: 87,885,821 (GRCm39) |
Q1316R |
possibly damaging |
Het |
Nfe2l3 |
A |
C |
6: 51,434,295 (GRCm39) |
Q285P |
probably damaging |
Het |
Nkd1 |
C |
T |
8: 89,318,745 (GRCm39) |
H357Y |
probably damaging |
Het |
Nmt2 |
T |
A |
2: 3,323,672 (GRCm39) |
I355N |
probably benign |
Het |
Or10ak11 |
T |
C |
4: 118,687,223 (GRCm39) |
N139S |
probably benign |
Het |
Or1n1b |
A |
T |
2: 36,780,458 (GRCm39) |
M134K |
possibly damaging |
Het |
Or5ae1 |
T |
C |
7: 84,565,487 (GRCm39) |
S167P |
probably benign |
Het |
Or5b3 |
T |
C |
19: 13,388,143 (GRCm39) |
V70A |
possibly damaging |
Het |
Or7a38 |
T |
A |
10: 78,752,758 (GRCm39) |
I28N |
probably damaging |
Het |
Or8b3 |
T |
A |
9: 38,314,182 (GRCm39) |
M1K |
probably null |
Het |
Otx1 |
G |
T |
11: 21,948,482 (GRCm39) |
T46K |
probably damaging |
Het |
Panx1 |
A |
G |
9: 14,918,822 (GRCm39) |
C346R |
probably benign |
Het |
Pcdhb16 |
T |
A |
18: 37,611,952 (GRCm39) |
L304* |
probably null |
Het |
Plet1 |
A |
G |
9: 50,415,652 (GRCm39) |
|
probably null |
Het |
Plod2 |
A |
G |
9: 92,489,188 (GRCm39) |
S707G |
probably damaging |
Het |
Plscr4 |
G |
A |
9: 92,365,889 (GRCm39) |
V120I |
probably damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,820,008 (GRCm39) |
V245A |
probably damaging |
Het |
Ppp2r2d |
A |
G |
7: 138,470,196 (GRCm39) |
D19G |
probably damaging |
Het |
Pramel31 |
T |
A |
4: 144,088,435 (GRCm39) |
V77E |
probably benign |
Het |
Rimbp3 |
G |
A |
16: 17,028,291 (GRCm39) |
V572I |
probably benign |
Het |
Ror2 |
T |
C |
13: 53,285,885 (GRCm39) |
I110V |
probably damaging |
Het |
Sec24d |
A |
T |
3: 123,147,043 (GRCm39) |
H667L |
probably benign |
Het |
Sema3d |
A |
G |
5: 12,623,810 (GRCm39) |
Q573R |
probably damaging |
Het |
Snx19 |
T |
A |
9: 30,343,620 (GRCm39) |
N593K |
probably damaging |
Het |
Sulf1 |
T |
C |
1: 12,867,131 (GRCm39) |
V105A |
probably benign |
Het |
Syngr3 |
T |
C |
17: 24,906,680 (GRCm39) |
N45S |
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,385,015 (GRCm39) |
H524L |
probably damaging |
Het |
Tex30 |
C |
T |
1: 44,130,564 (GRCm39) |
G68D |
probably damaging |
Het |
Tmem43 |
A |
T |
6: 91,463,891 (GRCm39) |
I389F |
probably benign |
Het |
Trpm1 |
A |
T |
7: 63,873,556 (GRCm39) |
N488Y |
probably damaging |
Het |
Usf2 |
T |
C |
7: 30,655,663 (GRCm39) |
T1A |
probably null |
Het |
Vmn1r16 |
T |
C |
6: 57,299,885 (GRCm39) |
I246V |
probably benign |
Het |
Vmn1r188 |
T |
G |
13: 22,272,815 (GRCm39) |
S256R |
possibly damaging |
Het |
Zfp12 |
G |
A |
5: 143,231,133 (GRCm39) |
E487K |
probably damaging |
Het |
Zfp24 |
AC |
A |
18: 24,147,476 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCCAAAAGCTACCCAGGGAG -3'
(R):5'- CTGGTTGTGTGTATCTGAAACC -3'
Sequencing Primer
(F):5'- CTACCCAGGGAGGATTCAGTGAC -3'
(R):5'- CTGAAACCAATGAATTGTGTGC -3'
|
Posted On |
2014-08-01 |