Incidental Mutation 'R5733:Vasn'
| ID |
451556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vasn
|
| Ensembl Gene |
ENSMUSG00000039646 |
| Gene Name |
vasorin |
| Synonyms |
ATIA, Slitl2, 2610528G05Rik |
| MMRRC Submission |
043193-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R5733 (G1)
|
| Quality Score |
203 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4457805-4468666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4468026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 658
(Y658H)
|
| 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: Y658H
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045162
Gene: ENSMUSG00000039646
AA Change: Y658H
| 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: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 95.0%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
A |
5: 35,762,543 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,742,100 (GRCm39) |
Y657* |
probably null |
Het |
| Anxa3 |
T |
A |
5: 96,968,331 (GRCm39) |
I128N |
probably damaging |
Het |
| Bsnd |
T |
C |
4: 106,345,198 (GRCm39) |
T83A |
probably benign |
Het |
| Capn10 |
A |
G |
1: 92,871,635 (GRCm39) |
Y411C |
probably benign |
Het |
| Capn3 |
G |
A |
2: 120,315,075 (GRCm39) |
W201* |
probably null |
Het |
| Crtap |
T |
C |
9: 114,207,164 (GRCm39) |
T365A |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,992,272 (GRCm39) |
D329G |
unknown |
Het |
| Dmxl2 |
A |
T |
9: 54,283,550 (GRCm39) |
L2761Q |
possibly damaging |
Het |
| Fcho2 |
A |
C |
13: 98,926,310 (GRCm39) |
V91G |
probably damaging |
Het |
| Fen1 |
A |
T |
19: 10,178,022 (GRCm39) |
C141S |
possibly damaging |
Het |
| Fkbp15 |
G |
C |
4: 62,225,166 (GRCm39) |
A831G |
probably benign |
Het |
| Frmd4a |
A |
T |
2: 4,305,768 (GRCm39) |
R14S |
possibly damaging |
Het |
| Fzr1 |
A |
G |
10: 81,206,160 (GRCm39) |
F176L |
possibly damaging |
Het |
| Garem2 |
A |
G |
5: 30,321,336 (GRCm39) |
D565G |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,944,505 (GRCm39) |
S76T |
probably damaging |
Het |
| Iqca1 |
G |
T |
1: 89,998,257 (GRCm39) |
T549K |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,739,647 (GRCm39) |
S686R |
probably damaging |
Het |
| Knop1 |
C |
A |
7: 118,445,305 (GRCm39) |
G220C |
probably damaging |
Het |
| Lyzl1 |
T |
A |
18: 4,169,142 (GRCm39) |
C49S |
probably damaging |
Het |
| Mpzl1 |
A |
T |
1: 165,433,180 (GRCm39) |
I157K |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,202,261 (GRCm39) |
I155V |
probably benign |
Het |
| Mucl3 |
T |
C |
17: 35,949,102 (GRCm39) |
M166V |
probably benign |
Het |
| Mvb12b |
T |
C |
2: 33,717,728 (GRCm39) |
T167A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,979,445 (GRCm39) |
N491S |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,787,128 (GRCm39) |
D511G |
possibly damaging |
Het |
| Or10ak8 |
C |
T |
4: 118,774,035 (GRCm39) |
V210I |
probably benign |
Het |
| Or11h4 |
T |
C |
14: 50,974,509 (GRCm39) |
T37A |
probably benign |
Het |
| Or6b1 |
C |
T |
6: 42,815,180 (GRCm39) |
R122C |
probably damaging |
Het |
| Or8k21 |
T |
G |
2: 86,145,558 (GRCm39) |
Q24P |
probably damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,091,671 (GRCm39) |
M476T |
probably damaging |
Het |
| Pum3 |
A |
G |
19: 27,398,695 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
G |
A |
10: 58,321,658 (GRCm39) |
D2652N |
probably damaging |
Het |
| Rassf1 |
T |
C |
9: 107,435,213 (GRCm39) |
V166A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,812,585 (GRCm39) |
H907R |
probably benign |
Het |
| Rorb |
T |
C |
19: 18,965,471 (GRCm39) |
E6G |
probably damaging |
Het |
| Serpina3f |
A |
T |
12: 104,183,182 (GRCm39) |
T15S |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,212,226 (GRCm39) |
L100P |
probably damaging |
Het |
| Sprr2k |
T |
C |
3: 92,340,655 (GRCm39) |
|
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,040,360 (GRCm39) |
S2431T |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,866,172 (GRCm39) |
K57* |
probably null |
Het |
| Ttc21a |
G |
A |
9: 119,770,327 (GRCm39) |
V133I |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,754,527 (GRCm39) |
Y35H |
probably damaging |
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 |
|
|
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 |
|
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'- GCTCTAACCATGCCCCAGTTAC -3'
(R):5'- TTACAGATGAGACCCAGCCC -3'
Sequencing Primer
(F):5'- CTGTGTTAGCCGCTGCAG -3'
(R):5'- TGAGACCCAGCCCAGAGAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation