Incidental Mutation 'R4322:Vtn'
ID |
323880 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vtn
|
Ensembl Gene |
ENSMUSG00000017344 |
Gene Name |
vitronectin |
Synonyms |
Vn |
MMRRC Submission |
041093-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4322 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
78389946-78393151 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 78390916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129606
(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 benign
Transcript: ENSMUST00000017488
|
SMART Domains |
Protein: ENSMUSP00000017488 Gene: ENSMUSG00000017344
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
94% (48/51) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt2 |
G |
A |
4: 154,751,701 (GRCm39) |
A145V |
probably damaging |
Het |
Allc |
C |
A |
12: 28,604,023 (GRCm39) |
L353F |
probably benign |
Het |
Alx3 |
C |
T |
3: 107,502,691 (GRCm39) |
P67L |
probably benign |
Het |
Arhgef10l |
C |
A |
4: 140,270,037 (GRCm39) |
G882V |
probably benign |
Het |
Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
Bdp1 |
T |
A |
13: 100,228,731 (GRCm39) |
N299I |
probably damaging |
Het |
Ccdc80 |
G |
T |
16: 44,915,951 (GRCm39) |
V236L |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,881,534 (GRCm39) |
I1085L |
probably benign |
Het |
Csn2 |
C |
T |
5: 87,845,886 (GRCm39) |
|
probably null |
Het |
Dnajb14 |
G |
A |
3: 137,591,060 (GRCm39) |
G54S |
probably damaging |
Het |
Fyb1 |
T |
A |
15: 6,610,300 (GRCm39) |
L291Q |
possibly damaging |
Het |
Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
Gm12250 |
G |
A |
11: 58,079,126 (GRCm39) |
|
noncoding transcript |
Het |
Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Kng1 |
A |
C |
16: 22,898,270 (GRCm39) |
M557L |
probably benign |
Het |
Lilrb4a |
T |
C |
10: 51,367,707 (GRCm39) |
F83S |
probably damaging |
Het |
Lmcd1 |
A |
G |
6: 112,292,724 (GRCm39) |
E192G |
possibly damaging |
Het |
Lrp2 |
C |
A |
2: 69,256,335 (GRCm39) |
E4602* |
probably null |
Het |
Mc4r |
T |
C |
18: 66,992,121 (GRCm39) |
R331G |
probably benign |
Het |
Mybpc3 |
A |
G |
2: 90,954,306 (GRCm39) |
D393G |
possibly damaging |
Het |
Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
Or4c10b |
A |
G |
2: 89,712,078 (GRCm39) |
K303E |
probably benign |
Het |
Or5p69 |
C |
T |
7: 107,967,555 (GRCm39) |
P286L |
probably damaging |
Het |
Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
Pot1a |
T |
C |
6: 25,745,929 (GRCm39) |
T591A |
probably benign |
Het |
Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sh3rf2 |
A |
T |
18: 42,244,464 (GRCm39) |
H310L |
probably damaging |
Het |
Shld2 |
G |
T |
14: 33,981,632 (GRCm39) |
T502K |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,705,711 (GRCm39) |
K238E |
probably damaging |
Het |
Ssc5d |
C |
T |
7: 4,931,449 (GRCm39) |
R219C |
probably damaging |
Het |
Them5 |
C |
A |
3: 94,253,463 (GRCm39) |
H158N |
probably damaging |
Het |
Vmn1r203 |
A |
T |
13: 22,708,408 (GRCm39) |
N63I |
probably damaging |
Het |
Vps41 |
T |
A |
13: 19,007,960 (GRCm39) |
F264L |
probably damaging |
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 |
|
IGL02515:Vtn
|
APN |
11 |
78,392,480 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACAGCCTTCCTAGATCCTGAG -3'
(R):5'- TGAACAAGTAGGTCTTCCCCTG -3'
Sequencing Primer
(F):5'- GCCTTCCTAGATCCTGAGGAACAG -3'
(R):5'- AAGTAGGTCTTCCCCTGACAGTTG -3'
|
Posted On |
2015-06-24 |