Incidental Mutation 'R5684:Vtn'
| ID |
443243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vtn
|
| Ensembl Gene |
ENSMUSG00000017344 |
| Gene Name |
vitronectin |
| Synonyms |
Vn |
| MMRRC Submission |
043178-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78389946-78393151 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78391384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 266
(G266S)
|
| 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: G266S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000017488
Gene: ENSMUSG00000017344
AA Change: G266S
| 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: ENSMUST00000153628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146997
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
G |
5: 115,017,621 (GRCm39) |
D144G |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,685,939 (GRCm39) |
T172A |
probably benign |
Het |
| Bspry |
T |
C |
4: 62,414,519 (GRCm39) |
F371L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,664,005 (GRCm39) |
F555L |
probably damaging |
Het |
| Colec12 |
T |
C |
18: 9,849,009 (GRCm39) |
S396P |
probably damaging |
Het |
| Creb3l1 |
A |
G |
2: 91,821,076 (GRCm39) |
V336A |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,778,455 (GRCm39) |
N85S |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,270,172 (GRCm39) |
S278P |
possibly damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Ercc4 |
T |
A |
16: 12,948,465 (GRCm39) |
C561S |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,496,299 (GRCm39) |
K637R |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,853 (GRCm39) |
S1130P |
probably benign |
Het |
| H2-M10.6 |
A |
T |
17: 37,124,746 (GRCm39) |
N221I |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,184,423 (GRCm39) |
K100I |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,660 (GRCm39) |
D144G |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,888 (GRCm39) |
Q545L |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Or13c7d |
T |
C |
4: 43,770,624 (GRCm39) |
N129S |
probably benign |
Het |
| Or5p63 |
A |
T |
7: 107,811,279 (GRCm39) |
Y152* |
probably null |
Het |
| Or5p64 |
A |
T |
7: 107,855,246 (GRCm39) |
I33N |
possibly damaging |
Het |
| Pidd1 |
A |
T |
7: 141,021,024 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
G |
15: 76,089,796 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
C |
T |
17: 84,905,346 (GRCm39) |
A1080V |
probably damaging |
Het |
| Plppr3 |
A |
T |
10: 79,701,151 (GRCm39) |
S564T |
possibly damaging |
Het |
| Ppp2ca |
A |
G |
11: 52,004,154 (GRCm39) |
K104E |
probably damaging |
Het |
| Rad54l |
T |
A |
4: 115,957,760 (GRCm39) |
K407M |
probably damaging |
Het |
| Sfn |
T |
A |
4: 133,328,603 (GRCm39) |
K160* |
probably null |
Het |
| Slc22a15 |
A |
G |
3: 101,770,271 (GRCm39) |
S439P |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,715,681 (GRCm39) |
V273D |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,937,561 (GRCm39) |
F471S |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,629,235 (GRCm39) |
E896G |
probably benign |
Het |
| Sorbs3 |
C |
T |
14: 70,418,671 (GRCm39) |
R717Q |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,923,984 (GRCm39) |
E779G |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,800,623 (GRCm39) |
V66A |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,423,706 (GRCm39) |
S400P |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,653,129 (GRCm39) |
V567A |
probably damaging |
Het |
| Vmn2r103 |
T |
G |
17: 20,013,251 (GRCm39) |
I124S |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,676,409 (GRCm39) |
M1188K |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,012,553 (GRCm39) |
S640P |
possibly damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,288,214 (GRCm39) |
M874K |
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 |
|
|
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 |
|
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 |
|
|
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'- ACAAAGCAGTCAGGGACTCC -3'
(R):5'- GTTGCTGCTGAAATTCGTACTC -3'
Sequencing Primer
(F):5'- CAGCCAGTTTAGGATATAGGACTGC -3'
(R):5'- CCCAGTACTGCTTCCCTGAGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation