Incidental Mutation 'IGL02515:Vtn'
| ID |
296723 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vtn
|
| Ensembl Gene |
ENSMUSG00000017344 |
| Gene Name |
vitronectin |
| Synonyms |
Vn |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
78389946-78393151 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78392480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 353
(I353F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001130]
[ENSMUST00000017488]
[ENSMUST00000061174]
[ENSMUST00000108287]
[ENSMUST00000125670]
|
| AlphaFold |
P29788 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001130
|
| SMART Domains |
Protein: ENSMUSP00000001130
Gene: ENSMUSG00000001103
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
18 |
80 |
2.05e-23 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017488
AA Change: I353F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000017488
Gene: ENSMUSG00000017344
AA Change: I353F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
SO
|
20 |
62 |
2.45e-13 |
SMART |
|
HX
|
160 |
203 |
7.81e-8 |
SMART |
|
HX
|
205 |
251 |
2.46e-14 |
SMART |
|
HX
|
253 |
303 |
9.19e-5 |
SMART |
|
low complexity region
|
358 |
400 |
N/A |
INTRINSIC |
|
HX
|
426 |
473 |
1.59e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061174
|
| SMART Domains |
Protein: ENSMUSP00000051059
Gene: ENSMUSG00000050132
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
339 |
N/A |
INTRINSIC |
|
SAM
|
409 |
476 |
1.46e-19 |
SMART |
|
SAM
|
479 |
548 |
9.5e-10 |
SMART |
|
TIR
|
561 |
702 |
6.73e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108287
|
| SMART Domains |
Protein: ENSMUSP00000103922
Gene: ENSMUSG00000050132
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
339 |
N/A |
INTRINSIC |
|
SAM
|
409 |
476 |
1.46e-19 |
SMART |
|
SAM
|
479 |
548 |
2.15e-8 |
SMART |
|
TIR
|
601 |
742 |
6.73e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125670
|
| SMART Domains |
Protein: ENSMUSP00000129606
Gene: ENSMUSG00000001103
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153628
|
| Coding Region Coverage |
|
| 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 is a member of the pexin family. It is found in serum and tissues and promotes cell adhesion and spreading, inhibits the membrane-damaging effect of the terminal cytolytic complement pathway, and binds to several serpin serine protease inhibitors. It is a secreted protein and exists in either a single chain form or a clipped, two chain form held together by a disulfide bond. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes and heterozygotes for a targeted null mutation appear to develop, mature, and reproduce normally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,153,229 (GRCm39) |
D879G |
probably benign |
Het |
| Atp6v0d2 |
A |
T |
4: 19,880,063 (GRCm39) |
F278Y |
possibly damaging |
Het |
| Cip2a |
A |
G |
16: 48,826,096 (GRCm39) |
T388A |
possibly damaging |
Het |
| Dapk3 |
T |
C |
10: 81,025,763 (GRCm39) |
|
probably benign |
Het |
| Dpysl4 |
A |
T |
7: 138,676,651 (GRCm39) |
D367V |
probably damaging |
Het |
| E330034G19Rik |
T |
A |
14: 24,348,052 (GRCm39) |
D101E |
possibly damaging |
Het |
| Epb41l1 |
G |
A |
2: 156,378,933 (GRCm39) |
E811K |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,303,303 (GRCm39) |
V424E |
probably null |
Het |
| Ggt5 |
G |
A |
10: 75,425,604 (GRCm39) |
V21I |
probably benign |
Het |
| Gm5239 |
A |
G |
18: 35,669,787 (GRCm39) |
E51G |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,826,041 (GRCm39) |
S753G |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,174,302 (GRCm39) |
Y648F |
probably damaging |
Het |
| Hmgcr |
T |
C |
13: 96,803,020 (GRCm39) |
|
probably benign |
Het |
| Insc |
A |
G |
7: 114,368,243 (GRCm39) |
D11G |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,790,876 (GRCm39) |
D88G |
probably damaging |
Het |
| Mtmr10 |
C |
T |
7: 63,987,259 (GRCm39) |
R600W |
probably damaging |
Het |
| Nlrc3 |
C |
A |
16: 3,767,323 (GRCm39) |
|
probably benign |
Het |
| Or5b116 |
T |
A |
19: 13,422,472 (GRCm39) |
I32N |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,087 (GRCm39) |
T196A |
probably benign |
Het |
| Pdcd11 |
A |
T |
19: 47,113,516 (GRCm39) |
D1323V |
probably damaging |
Het |
| Rgl3 |
T |
C |
9: 21,885,396 (GRCm39) |
R645G |
possibly damaging |
Het |
| Rnf2 |
A |
T |
1: 151,347,446 (GRCm39) |
D137E |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,747,952 (GRCm39) |
H430R |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,653,261 (GRCm39) |
V1534A |
possibly damaging |
Het |
| Stip1 |
T |
C |
19: 6,999,487 (GRCm39) |
T432A |
probably benign |
Het |
| Tnfsf14 |
T |
C |
17: 57,499,600 (GRCm39) |
D84G |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,434,525 (GRCm39) |
V601A |
probably damaging |
Het |
| Vmn1r215 |
T |
C |
13: 23,259,990 (GRCm39) |
I10T |
probably benign |
Het |
|
| Other mutations in Vtn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Vtn
|
APN |
11 |
78,390,200 (GRCm39) |
missense |
probably benign |
|
|
R0722:Vtn
|
UTSW |
11 |
78,391,680 (GRCm39) |
unclassified |
probably benign |
|
|
R1071:Vtn
|
UTSW |
11 |
78,392,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1738:Vtn
|
UTSW |
11 |
78,390,422 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1848:Vtn
|
UTSW |
11 |
78,391,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1980:Vtn
|
UTSW |
11 |
78,392,724 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1998:Vtn
|
UTSW |
11 |
78,390,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Vtn
|
UTSW |
11 |
78,391,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4322:Vtn
|
UTSW |
11 |
78,390,916 (GRCm39) |
unclassified |
probably benign |
|
|
R4590:Vtn
|
UTSW |
11 |
78,393,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Vtn
|
UTSW |
11 |
78,392,400 (GRCm39) |
missense |
probably benign |
|
|
R5684:Vtn
|
UTSW |
11 |
78,391,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6177:Vtn
|
UTSW |
11 |
78,390,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6716:Vtn
|
UTSW |
11 |
78,391,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7202:Vtn
|
UTSW |
11 |
78,391,626 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8734:Vtn
|
UTSW |
11 |
78,391,090 (GRCm39) |
unclassified |
probably benign |
|
|
R9126:Vtn
|
UTSW |
11 |
78,391,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9377:Vtn
|
UTSW |
11 |
78,390,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9780:Vtn
|
UTSW |
11 |
78,393,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9799:Vtn
|
UTSW |
11 |
78,392,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0058:Vtn
|
UTSW |
11 |
78,390,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation