Incidental Mutation 'R4482:Vasn'
| ID |
331478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vasn
|
| Ensembl Gene |
ENSMUSG00000039646 |
| Gene Name |
vasorin |
| Synonyms |
ATIA, Slitl2, 2610528G05Rik |
| MMRRC Submission |
041738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R4482 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4457805-4468666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4466190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 46
(T46S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038552]
[ENSMUST00000038770]
[ENSMUST00000090480]
[ENSMUST00000135823]
|
| AlphaFold |
Q9CZT5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038552
|
| SMART Domains |
Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
3 |
64 |
6.41e-15 |
SMART |
|
WD40
|
66 |
106 |
1.83e-7 |
SMART |
|
WD40
|
115 |
154 |
4.13e0 |
SMART |
|
WD40
|
157 |
196 |
1.78e-5 |
SMART |
|
DUF1900
|
251 |
385 |
4.49e-60 |
SMART |
|
low complexity region
|
427 |
456 |
N/A |
INTRINSIC |
|
DUF1899
|
463 |
528 |
1.2e-19 |
SMART |
|
WD40
|
531 |
570 |
3.64e-2 |
SMART |
|
WD40
|
580 |
620 |
8.55e-8 |
SMART |
|
WD40
|
623 |
662 |
1.16e-9 |
SMART |
|
low complexity region
|
667 |
679 |
N/A |
INTRINSIC |
|
DUF1900
|
718 |
854 |
6.69e-68 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038770
AA Change: T46S
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045162
Gene: ENSMUSG00000039646
AA Change: T46S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
LRRNT
|
24 |
57 |
4.05e-5 |
SMART |
|
LRR_TYP
|
76 |
99 |
8.15e-6 |
SMART |
|
LRR_TYP
|
100 |
123 |
6.23e-2 |
SMART |
|
LRR_TYP
|
124 |
147 |
6.42e-4 |
SMART |
|
LRR
|
169 |
192 |
1.99e0 |
SMART |
|
low complexity region
|
197 |
206 |
N/A |
INTRINSIC |
|
LRR
|
216 |
238 |
6.22e0 |
SMART |
|
LRR
|
239 |
263 |
1.16e2 |
SMART |
|
LRR
|
264 |
287 |
1.15e1 |
SMART |
|
LRRCT
|
299 |
351 |
2.03e-11 |
SMART |
|
EGF
|
409 |
443 |
2.79e-4 |
SMART |
|
FN3
|
460 |
544 |
2.72e-3 |
SMART |
|
transmembrane domain
|
578 |
600 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090480
|
| SMART Domains |
Protein: ENSMUSP00000087966
Gene: ENSMUSG00000039637
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
3 |
64 |
6.41e-15 |
SMART |
|
WD40
|
66 |
106 |
1.83e-7 |
SMART |
|
WD40
|
115 |
154 |
4.13e0 |
SMART |
|
WD40
|
157 |
196 |
1.78e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130125
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135823
|
| SMART Domains |
Protein: ENSMUSP00000118310
Gene: ENSMUSG00000039637
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
3 |
64 |
6.41e-15 |
SMART |
|
WD40
|
66 |
106 |
1.83e-7 |
SMART |
|
WD40
|
115 |
154 |
4.13e0 |
SMART |
|
WD40
|
157 |
196 |
1.78e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144815
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased sensitivity to TNFalpha-induced lethality, TNFalpha-, cycloheximide-, or CoCl2-induced cell death, and reduced male fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
A |
G |
11: 3,845,008 (GRCm39) |
V27A |
possibly damaging |
Het |
| Actn3 |
A |
T |
19: 4,913,436 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
T |
C |
15: 94,243,801 (GRCm39) |
Y642C |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,228 (GRCm39) |
D1187G |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,275,072 (GRCm39) |
|
probably benign |
Het |
| Bsn |
C |
A |
9: 107,991,863 (GRCm39) |
K1296N |
probably damaging |
Het |
| Cct5 |
T |
C |
15: 31,597,715 (GRCm39) |
D58G |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,389,795 (GRCm39) |
F467L |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,672,536 (GRCm39) |
Y904H |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,205,530 (GRCm39) |
|
probably null |
Het |
| Fhip1b |
A |
T |
7: 105,038,881 (GRCm39) |
F119L |
probably benign |
Het |
| Git1 |
T |
A |
11: 77,391,333 (GRCm39) |
Y189N |
possibly damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Itga6 |
T |
A |
2: 71,686,259 (GRCm39) |
I1059N |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,051 (GRCm39) |
Y475F |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,970,710 (GRCm39) |
I199T |
probably benign |
Het |
| Mtmr7 |
T |
C |
8: 41,007,425 (GRCm39) |
M503V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,577,075 (GRCm39) |
T2192A |
unknown |
Het |
| Nexn |
T |
C |
3: 151,948,390 (GRCm39) |
E391G |
probably damaging |
Het |
| Or5h22 |
G |
T |
16: 58,895,286 (GRCm39) |
H52Q |
probably benign |
Het |
| Parg |
A |
G |
14: 31,984,731 (GRCm39) |
I254V |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pomt2 |
G |
A |
12: 87,178,604 (GRCm39) |
P290S |
probably benign |
Het |
| Rasl10a |
T |
A |
11: 5,008,429 (GRCm39) |
Y42N |
probably damaging |
Het |
| Slc4a8 |
C |
A |
15: 100,708,480 (GRCm39) |
F871L |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,980,935 (GRCm39) |
|
probably null |
Het |
| Trim21 |
G |
A |
7: 102,213,140 (GRCm39) |
Q53* |
probably null |
Het |
| Triobp |
T |
C |
15: 78,850,763 (GRCm39) |
S306P |
possibly damaging |
Het |
| Wmp |
T |
A |
X: 106,990,237 (GRCm39) |
L225F |
possibly damaging |
Het |
| Zfp236 |
A |
T |
18: 82,662,346 (GRCm39) |
F529Y |
probably benign |
Het |
|
| Other mutations in Vasn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01345:Vasn
|
APN |
16 |
4,466,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01543:Vasn
|
APN |
16 |
4,467,756 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
PIT4243001:Vasn
|
UTSW |
16 |
4,467,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4810001:Vasn
|
UTSW |
16 |
4,467,909 (GRCm39) |
missense |
probably benign |
|
|
R1394:Vasn
|
UTSW |
16 |
4,467,576 (GRCm39) |
nonsense |
probably null |
|
|
R1459:Vasn
|
UTSW |
16 |
4,466,473 (GRCm39) |
splice site |
probably null |
|
|
R2136:Vasn
|
UTSW |
16 |
4,467,659 (GRCm39) |
nonsense |
probably null |
|
|
R5423:Vasn
|
UTSW |
16 |
4,466,284 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5733:Vasn
|
UTSW |
16 |
4,468,026 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7230:Vasn
|
UTSW |
16 |
4,467,486 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7507:Vasn
|
UTSW |
16 |
4,467,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Vasn
|
UTSW |
16 |
4,466,160 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8858:Vasn
|
UTSW |
16 |
4,466,833 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9083:Vasn
|
UTSW |
16 |
4,467,871 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCAGCCCTGACTCATAAG -3'
(R):5'- TCTCGTTGGAGATCTCGTGC -3'
Sequencing Primer
(F):5'- GCTCTTTGCTCTTAGGGACAGAAG -3'
(R):5'- CAGTCAGGTCCAGGTTACTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation