Incidental Mutation 'R7398:Vill'
ID |
573974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vill
|
Ensembl Gene |
ENSMUSG00000038775 |
Gene Name |
villin-like |
Synonyms |
Villp |
MMRRC Submission |
045480-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R7398 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
118881846-118900593 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 118899716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 767
(P767L)
|
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 benign
Transcript: ENSMUST00000051386
AA Change: P767L
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000061731 Gene: ENSMUSG00000038775 AA Change: P767L
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: P683L
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000074294 Gene: ENSMUSG00000038775 AA Change: P683L
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: P300L
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000116262 Gene: ENSMUSG00000038775 AA Change: P300L
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: P383L
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000116546 Gene: ENSMUSG00000038775 AA Change: P383L
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
T |
A |
2: 31,680,811 (GRCm39) |
S368T |
probably damaging |
Het |
Acmsd |
A |
G |
1: 127,657,172 (GRCm39) |
|
probably benign |
Het |
Arid3b |
A |
T |
9: 57,703,495 (GRCm39) |
S445T |
probably benign |
Het |
Brinp1 |
A |
G |
4: 68,759,591 (GRCm39) |
V91A |
probably benign |
Het |
Ccne1 |
A |
G |
7: 37,805,702 (GRCm39) |
|
probably null |
Het |
Col3a1 |
A |
T |
1: 45,366,973 (GRCm39) |
I249F |
unknown |
Het |
Crybg3 |
T |
C |
16: 59,377,688 (GRCm39) |
I1189V |
probably benign |
Het |
Cyp2d34 |
A |
T |
15: 82,500,964 (GRCm39) |
D389E |
probably benign |
Het |
D130043K22Rik |
A |
C |
13: 25,077,360 (GRCm39) |
I998L |
probably damaging |
Het |
Dgkq |
A |
G |
5: 108,803,056 (GRCm39) |
I298T |
possibly damaging |
Het |
Dnah17 |
T |
C |
11: 117,971,550 (GRCm39) |
E2161G |
probably damaging |
Het |
Dnajc25 |
T |
C |
4: 59,017,824 (GRCm39) |
|
probably null |
Het |
Dpp9 |
G |
A |
17: 56,496,405 (GRCm39) |
R768* |
probably null |
Het |
Dusp6 |
T |
A |
10: 99,100,740 (GRCm39) |
N245K |
probably damaging |
Het |
Eea1 |
C |
A |
10: 95,831,493 (GRCm39) |
H195N |
probably benign |
Het |
Efhc1 |
A |
G |
1: 21,059,744 (GRCm39) |
E598G |
probably benign |
Het |
Epb41l1 |
T |
C |
2: 156,376,682 (GRCm39) |
V809A |
probably damaging |
Het |
Gas8 |
T |
A |
8: 124,245,690 (GRCm39) |
M1K |
probably null |
Het |
Gcm1 |
G |
A |
9: 77,971,961 (GRCm39) |
V301I |
probably benign |
Het |
Gm11554 |
T |
A |
11: 99,695,085 (GRCm39) |
S43C |
unknown |
Het |
Gm7298 |
A |
G |
6: 121,758,912 (GRCm39) |
I1177V |
probably benign |
Het |
Gm8011 |
A |
G |
14: 42,285,918 (GRCm39) |
T27A |
|
Het |
Hmcn1 |
A |
G |
1: 150,522,421 (GRCm39) |
I3493T |
probably benign |
Het |
Insrr |
T |
G |
3: 87,716,039 (GRCm39) |
I578S |
probably damaging |
Het |
Kif13b |
A |
G |
14: 64,994,972 (GRCm39) |
D908G |
probably null |
Het |
Lhcgr |
G |
C |
17: 89,079,474 (GRCm39) |
Q71E |
probably benign |
Het |
Lrrc34 |
T |
C |
3: 30,697,491 (GRCm39) |
D80G |
probably damaging |
Het |
Lrrc7 |
C |
A |
3: 157,997,595 (GRCm39) |
E156* |
probably null |
Het |
Lrrc9 |
A |
G |
12: 72,547,590 (GRCm39) |
D1255G |
probably damaging |
Het |
Mcidas |
A |
G |
13: 113,133,416 (GRCm39) |
N116D |
probably benign |
Het |
Mmp7 |
A |
G |
9: 7,697,594 (GRCm39) |
N210D |
probably damaging |
Het |
Morc3 |
A |
G |
16: 93,671,748 (GRCm39) |
D926G |
probably damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,885,385 (GRCm39) |
I94T |
possibly damaging |
Het |
Muc16 |
C |
A |
9: 18,549,038 (GRCm39) |
V5752F |
possibly damaging |
Het |
Myo16 |
A |
T |
8: 10,612,183 (GRCm39) |
D1276V |
unknown |
Het |
Nlrc4 |
T |
G |
17: 74,753,537 (GRCm39) |
E282A |
probably damaging |
Het |
Nos2 |
T |
A |
11: 78,827,297 (GRCm39) |
Y227* |
probably null |
Het |
Obox5 |
A |
C |
7: 15,492,713 (GRCm39) |
M223L |
probably benign |
Het |
Or10ak13 |
C |
A |
4: 118,638,896 (GRCm39) |
L295F |
possibly damaging |
Het |
Pygm |
G |
A |
19: 6,435,966 (GRCm39) |
R139H |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,303,099 (GRCm39) |
P789T |
probably damaging |
Het |
Riok2 |
T |
G |
17: 17,607,501 (GRCm39) |
S350A |
probably benign |
Het |
Rnf214 |
C |
T |
9: 45,778,845 (GRCm39) |
V445I |
possibly damaging |
Het |
Skida1 |
C |
T |
2: 18,051,083 (GRCm39) |
V603I |
unknown |
Het |
Skint6 |
T |
A |
4: 112,755,335 (GRCm39) |
R747S |
probably benign |
Het |
Slc24a5 |
G |
A |
2: 124,927,694 (GRCm39) |
W331* |
probably null |
Het |
Slc5a10 |
A |
T |
11: 61,564,405 (GRCm39) |
C525S |
probably benign |
Het |
Styxl2 |
A |
G |
1: 165,928,044 (GRCm39) |
S523P |
probably damaging |
Het |
Sult2b1 |
T |
C |
7: 45,380,718 (GRCm39) |
Y288C |
probably damaging |
Het |
Tagln3 |
G |
T |
16: 45,543,440 (GRCm39) |
N67K |
probably damaging |
Het |
Trav21-dv12 |
A |
T |
14: 54,114,162 (GRCm39) |
H94L |
probably benign |
Het |
Tshz2 |
A |
G |
2: 169,726,094 (GRCm39) |
E230G |
probably damaging |
Het |
Usb1 |
T |
A |
8: 96,071,931 (GRCm39) |
H210Q |
probably damaging |
Het |
Vmn2r94 |
A |
T |
17: 18,477,603 (GRCm39) |
N269K |
probably benign |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
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 |
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'- AGAGGCCTGTGGGTTCAATG -3'
(R):5'- GTCTGCTCAGAGTGCATTATGG -3'
Sequencing Primer
(F):5'- CCTGTGGGTTCAATGTGGTC -3'
(R):5'- CCCAGTGCAGTTAGGTCTAGTAC -3'
|
Posted On |
2019-09-13 |