Incidental Mutation 'IGL01345:Vasn'
| ID |
75018 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vasn
|
| Ensembl Gene |
ENSMUSG00000039646 |
| Gene Name |
vasorin |
| Synonyms |
ATIA, Slitl2, 2610528G05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
IGL01345
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
4457805-4468666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4466232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 60
(I60V)
|
| 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 |
probably benign
Transcript: ENSMUST00000038770
AA Change: I60V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000045162
Gene: ENSMUSG00000039646
AA Change: I60V
| 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 |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
A |
G |
2: 156,699,020 (GRCm39) |
|
probably benign |
Het |
| Atr |
G |
A |
9: 95,823,002 (GRCm39) |
C2323Y |
probably damaging |
Het |
| Ccdc107 |
T |
A |
4: 43,493,453 (GRCm39) |
L8* |
probably null |
Het |
| Erc1 |
T |
A |
6: 119,738,224 (GRCm39) |
K240* |
probably null |
Het |
| Gcat |
T |
C |
15: 78,918,265 (GRCm39) |
|
probably benign |
Het |
| Gm4847 |
A |
T |
1: 166,462,541 (GRCm39) |
D316E |
probably damaging |
Het |
| Gm8267 |
A |
G |
14: 44,962,412 (GRCm39) |
S3P |
probably damaging |
Het |
| Gpr26 |
T |
C |
7: 131,569,161 (GRCm39) |
F169L |
possibly damaging |
Het |
| Itgal |
T |
A |
7: 126,900,128 (GRCm39) |
F129I |
possibly damaging |
Het |
| Kcnk1 |
T |
A |
8: 126,752,146 (GRCm39) |
C251S |
possibly damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,300,742 (GRCm39) |
D608G |
probably damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,320,491 (GRCm39) |
E882G |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,266,947 (GRCm39) |
K385E |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,387,020 (GRCm39) |
D854N |
possibly damaging |
Het |
| Rnf220 |
G |
A |
4: 117,130,467 (GRCm39) |
R253* |
probably null |
Het |
| Slc22a15 |
A |
C |
3: 101,787,492 (GRCm39) |
S259R |
probably benign |
Het |
| Tln1 |
G |
A |
4: 43,536,281 (GRCm39) |
L2004F |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,532,054 (GRCm39) |
S126P |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,037,228 (GRCm39) |
T587A |
possibly damaging |
Het |
| Vps33a |
G |
T |
5: 123,711,006 (GRCm39) |
N13K |
probably benign |
Het |
| Zmiz2 |
A |
G |
11: 6,355,015 (GRCm39) |
D862G |
possibly damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,057 (GRCm39) |
L179H |
probably damaging |
Het |
|
| Other mutations in Vasn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R4482:Vasn
|
UTSW |
16 |
4,466,190 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation