Incidental Mutation 'R6318:Vill'
| ID |
510293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vill
|
| Ensembl Gene |
ENSMUSG00000038775 |
| Gene Name |
villin-like |
| Synonyms |
Villp |
| MMRRC Submission |
044473-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6318 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 118892716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 376
(Q376H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051386]
[ENSMUST00000074734]
[ENSMUST00000126251]
[ENSMUST00000136561]
[ENSMUST00000141185]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051386
AA Change: Q376H
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: Q376H
| 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: Q376H
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: Q376H
| 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: 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 |
0.1536 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
99% (74/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,270,474 (GRCm39) |
T13A |
possibly damaging |
Het |
| Abcg4 |
T |
C |
9: 44,186,645 (GRCm39) |
T500A |
probably benign |
Het |
| Adcy4 |
T |
A |
14: 56,006,681 (GRCm39) |
I1051F |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,343,241 (GRCm39) |
N235K |
probably benign |
Het |
| Aldh3a2 |
A |
C |
11: 61,153,245 (GRCm39) |
Y160* |
probably null |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Armt1 |
T |
C |
10: 4,400,859 (GRCm39) |
M202T |
probably benign |
Het |
| Brd2 |
C |
A |
17: 34,331,872 (GRCm39) |
V349F |
probably damaging |
Het |
| Btnl10 |
A |
T |
11: 58,817,691 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
A |
G |
18: 22,253,591 (GRCm39) |
V216A |
possibly damaging |
Het |
| Ccdc85c |
A |
T |
12: 108,240,968 (GRCm39) |
L142Q |
unknown |
Het |
| Cdc27 |
A |
T |
11: 104,419,520 (GRCm39) |
S172T |
probably damaging |
Het |
| Ceacam14 |
T |
C |
7: 17,548,237 (GRCm39) |
I109T |
probably damaging |
Het |
| Ces5a |
C |
T |
8: 94,261,211 (GRCm39) |
G72E |
probably damaging |
Het |
| Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
| Clec14a |
G |
A |
12: 58,315,001 (GRCm39) |
P207L |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,448,652 (GRCm39) |
R599H |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,953,212 (GRCm39) |
I3423N |
probably damaging |
Het |
| Cyp4a29 |
C |
A |
4: 115,107,396 (GRCm39) |
N243K |
probably benign |
Het |
| Ddx59 |
T |
C |
1: 136,344,610 (GRCm39) |
F94L |
probably damaging |
Het |
| Dusp3 |
A |
C |
11: 101,877,697 (GRCm39) |
V19G |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,828,280 (GRCm39) |
|
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,313,921 (GRCm39) |
V545E |
probably damaging |
Het |
| Fxn |
G |
T |
19: 24,257,790 (GRCm39) |
A47D |
probably damaging |
Het |
| Gdpgp1 |
A |
T |
7: 79,888,898 (GRCm39) |
I310F |
possibly damaging |
Het |
| Gm7210 |
A |
T |
7: 11,328,040 (GRCm39) |
|
noncoding transcript |
Het |
| Grm7 |
G |
T |
6: 111,335,836 (GRCm39) |
C749F |
probably damaging |
Het |
| Hps4 |
T |
G |
5: 112,494,495 (GRCm39) |
V26G |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,814,981 (GRCm39) |
D294G |
probably benign |
Het |
| Immp1l |
T |
C |
2: 105,761,172 (GRCm39) |
F27S |
probably benign |
Het |
| Kcnk3 |
T |
A |
5: 30,779,930 (GRCm39) |
C327S |
probably damaging |
Het |
| Kif13a |
T |
A |
13: 46,968,683 (GRCm39) |
|
probably null |
Het |
| Krtap5-4 |
T |
C |
7: 141,857,827 (GRCm39) |
S166P |
unknown |
Het |
| Lyst |
G |
A |
13: 13,917,896 (GRCm39) |
D3319N |
possibly damaging |
Het |
| Malrd1 |
T |
G |
2: 16,047,078 (GRCm39) |
S1735A |
unknown |
Het |
| Myh4 |
A |
G |
11: 67,134,268 (GRCm39) |
T308A |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,190,167 (GRCm39) |
Q1269L |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,781,657 (GRCm39) |
V1367I |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,250,269 (GRCm39) |
D208G |
probably benign |
Het |
| Nelfe |
T |
A |
17: 35,073,432 (GRCm39) |
V296D |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,518,761 (GRCm39) |
R284G |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,109,374 (GRCm39) |
V734E |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,299,390 (GRCm39) |
N752S |
probably damaging |
Het |
| Or11i1 |
T |
C |
3: 106,729,503 (GRCm39) |
D124G |
probably damaging |
Het |
| Or3a1b |
A |
T |
11: 74,012,547 (GRCm39) |
Q144L |
possibly damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,998 (GRCm39) |
I301V |
possibly damaging |
Het |
| Or8b1 |
T |
C |
9: 38,399,673 (GRCm39) |
M116T |
probably benign |
Het |
| Otof |
C |
A |
5: 30,571,888 (GRCm39) |
G171V |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 21,006,939 (GRCm39) |
V208D |
probably damaging |
Het |
| Pkn1 |
T |
A |
8: 84,410,220 (GRCm39) |
T340S |
probably damaging |
Het |
| Plcd4 |
C |
T |
1: 74,602,753 (GRCm39) |
L668F |
possibly damaging |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Prss50 |
A |
T |
9: 110,690,367 (GRCm39) |
D170V |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,237,118 (GRCm38) |
V604A |
probably damaging |
Het |
| Rab33b |
T |
C |
3: 51,400,826 (GRCm39) |
V100A |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,368,971 (GRCm39) |
D736V |
probably damaging |
Het |
| Rela |
C |
A |
19: 5,696,992 (GRCm39) |
P400T |
probably benign |
Het |
| Rpusd4 |
T |
C |
9: 35,179,334 (GRCm39) |
L50P |
probably damaging |
Het |
| Scn10a |
A |
C |
9: 119,456,181 (GRCm39) |
Y1214D |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,877,430 (GRCm39) |
E179G |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,374,330 (GRCm39) |
D1253V |
unknown |
Het |
| Sp4 |
G |
T |
12: 118,201,913 (GRCm39) |
P771H |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,256,099 (GRCm39) |
Y263F |
probably damaging |
Het |
| Ssbp1 |
G |
A |
6: 40,453,687 (GRCm39) |
V78I |
probably benign |
Het |
| St3gal6 |
A |
G |
16: 58,306,769 (GRCm39) |
I87T |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,545,129 (GRCm39) |
D997E |
probably benign |
Het |
| Tpr |
C |
T |
1: 150,321,639 (GRCm39) |
P2265S |
possibly damaging |
Het |
| Ttc7b |
A |
T |
12: 100,291,936 (GRCm39) |
F212Y |
probably damaging |
Het |
| Ubc |
A |
G |
5: 125,465,324 (GRCm39) |
M1T |
probably null |
Het |
| Yes1 |
T |
C |
5: 32,809,030 (GRCm39) |
I132T |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,993,444 (GRCm39) |
T830A |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,358,044 (GRCm39) |
F451I |
possibly damaging |
Het |
| Zfp995 |
C |
T |
17: 22,099,493 (GRCm39) |
C247Y |
probably benign |
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 |
|
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'- GTCCACAGCTTTCCAACAGC -3'
(R):5'- AAGTGCCTGGGTCATTTCGG -3'
Sequencing Primer
(F):5'- AACAGCTCTTCTGGTCTTGG -3'
(R):5'- ATGTAGTTCAGACTGGCCTCGAAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation