Incidental Mutation 'IGL02835:Vill'
| ID |
391983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vill
|
| Ensembl Gene |
ENSMUSG00000038775 |
| Gene Name |
villin-like |
| Synonyms |
Villp |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL02835 (G1)
|
| Quality Score |
156 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 118896513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 120
(T120M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116262
(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 benign
Transcript: ENSMUST00000051386
AA Change: T565M
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: T565M
| 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: T565M
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: T565M
| 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
AA Change: T120M
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775
AA Change: T120M
| 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 benign
Transcript: ENSMUST00000141185
AA Change: T181M
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775
AA Change: T181M
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (57/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
T |
A |
8: 79,937,284 (GRCm39) |
K208* |
probably null |
Het |
| A530016L24Rik |
A |
C |
12: 112,461,420 (GRCm39) |
|
probably null |
Het |
| A830018L16Rik |
A |
C |
1: 12,042,279 (GRCm39) |
D433A |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,401,515 (GRCm39) |
I3985N |
probably damaging |
Het |
| Abhd17c |
C |
T |
7: 83,800,731 (GRCm39) |
D108N |
probably benign |
Het |
| Adam29 |
C |
T |
8: 56,326,173 (GRCm39) |
D94N |
probably damaging |
Het |
| Agr2 |
A |
G |
12: 36,045,903 (GRCm39) |
D50G |
probably benign |
Het |
| Angptl1 |
A |
G |
1: 156,686,090 (GRCm39) |
D392G |
probably benign |
Het |
| Apob |
A |
G |
12: 8,065,097 (GRCm39) |
N3989S |
possibly damaging |
Het |
| AU018091 |
T |
C |
7: 3,218,897 (GRCm39) |
D12G |
unknown |
Het |
| Cyfip2 |
A |
T |
11: 46,140,598 (GRCm39) |
S742T |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,051,055 (GRCm39) |
S892N |
probably damaging |
Het |
| Dsg1b |
A |
G |
18: 20,525,071 (GRCm39) |
N169S |
possibly damaging |
Het |
| Egfem1 |
T |
C |
3: 29,711,390 (GRCm39) |
L323P |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Fjx1 |
G |
A |
2: 102,281,092 (GRCm39) |
A281V |
possibly damaging |
Het |
| Fmn2 |
T |
A |
1: 174,409,625 (GRCm39) |
D619E |
unknown |
Het |
| Gm4795 |
A |
C |
10: 44,882,254 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5117 |
T |
C |
8: 32,227,198 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5250 |
T |
C |
1: 13,132,418 (GRCm39) |
|
noncoding transcript |
Het |
| Gtdc1 |
A |
T |
2: 44,646,324 (GRCm39) |
Y101* |
probably null |
Het |
| Herc6 |
T |
C |
6: 57,623,146 (GRCm39) |
I583T |
possibly damaging |
Het |
| Hyal4 |
G |
A |
6: 24,765,714 (GRCm39) |
R356H |
probably benign |
Het |
| Il22ra2 |
C |
A |
10: 19,502,424 (GRCm39) |
T81K |
probably benign |
Het |
| Iqcm |
T |
A |
8: 76,281,511 (GRCm39) |
|
probably benign |
Het |
| Izumo4 |
G |
A |
10: 80,540,959 (GRCm39) |
V220I |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,554,133 (GRCm39) |
D899E |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,335,648 (GRCm39) |
N1358K |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,698,863 (GRCm39) |
|
probably null |
Het |
| Lyst |
C |
T |
13: 13,835,685 (GRCm39) |
T1789M |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,049,760 (GRCm39) |
T732A |
probably damaging |
Het |
| Mdh1b |
A |
T |
1: 63,757,816 (GRCm39) |
I305N |
probably damaging |
Het |
| Mettl13 |
A |
G |
1: 162,373,585 (GRCm39) |
I222T |
probably damaging |
Het |
| Mtcl2 |
G |
A |
2: 156,883,854 (GRCm39) |
T363I |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,584,319 (GRCm39) |
F2583L |
probably benign |
Het |
| Nbea |
C |
T |
3: 55,625,290 (GRCm39) |
R2267Q |
possibly damaging |
Het |
| Ndfip1 |
T |
C |
18: 38,589,144 (GRCm39) |
Y178H |
probably damaging |
Het |
| Nin |
A |
T |
12: 70,103,512 (GRCm39) |
F243I |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,523,869 (GRCm39) |
I537K |
possibly damaging |
Het |
| Nup155 |
T |
C |
15: 8,172,614 (GRCm39) |
Y867H |
probably damaging |
Het |
| Pakap |
C |
G |
4: 57,883,044 (GRCm39) |
P837A |
probably damaging |
Het |
| Pik3r4 |
A |
C |
9: 105,549,905 (GRCm39) |
I999L |
probably benign |
Het |
| Pitpnm3 |
G |
A |
11: 71,952,292 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polg2 |
A |
T |
11: 106,666,266 (GRCm39) |
V293E |
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,380,817 (GRCm39) |
Y402F |
probably damaging |
Het |
| Prok1 |
T |
C |
3: 107,144,531 (GRCm39) |
|
probably null |
Het |
| Ptcd1 |
T |
C |
5: 145,091,500 (GRCm39) |
D533G |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,707,891 (GRCm39) |
V1484A |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,000,293 (GRCm39) |
|
probably benign |
Het |
| Serpinb8 |
T |
G |
1: 107,530,586 (GRCm39) |
F121L |
probably damaging |
Het |
| Sh3rf1 |
T |
A |
8: 61,679,081 (GRCm39) |
V41E |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,182,126 (GRCm39) |
N725S |
possibly damaging |
Het |
| Stab1 |
A |
T |
14: 30,867,981 (GRCm39) |
|
probably null |
Het |
| Themis |
A |
T |
10: 28,637,616 (GRCm39) |
|
probably benign |
Het |
| Trim68 |
T |
A |
7: 102,327,780 (GRCm39) |
Y391F |
probably benign |
Het |
| Trmt1 |
T |
G |
8: 85,423,589 (GRCm39) |
V327G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACCATGTTCTGAACCCAG -3'
(R):5'- GAACGTCCTTAGGAAACCTGG -3'
Sequencing Primer
(F):5'- CAGATAGGGCTATAGGGTTACAGTTG -3'
(R):5'- TCCTTAGGAAACCTGGCCAGAG -3'
|
| Posted On |
2016-06-08 |
Incidental Mutation