Incidental Mutation 'PIT4243001:Vasn'
| ID |
554472 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4243001 (G1)
|
| Quality Score |
132.008 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4457805-4468666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4467480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 476
(S476P)
|
| 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 damaging
Transcript: ENSMUST00000038770
AA Change: S476P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045162
Gene: ENSMUSG00000039646
AA Change: S476P
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 85.2%
- 20x: 74.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,119,999 (GRCm39) |
E252V |
possibly damaging |
Het |
| Abhd13 |
T |
C |
8: 10,037,967 (GRCm39) |
F188S |
possibly damaging |
Het |
| Abtb1 |
A |
G |
6: 88,815,708 (GRCm39) |
V225A |
probably benign |
Het |
| Accs |
A |
G |
2: 93,671,679 (GRCm39) |
M237T |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,236,271 (GRCm39) |
I380T |
probably damaging |
Het |
| Add3 |
T |
C |
19: 53,225,121 (GRCm39) |
S414P |
probably benign |
Het |
| Ak3 |
C |
T |
19: 29,015,271 (GRCm39) |
|
probably null |
Het |
| Atg14 |
T |
C |
14: 47,792,031 (GRCm39) |
E132G |
possibly damaging |
Het |
| Bcl2l11 |
A |
G |
2: 127,989,026 (GRCm39) |
E135G |
probably benign |
Het |
| Brwd1 |
G |
A |
16: 95,803,871 (GRCm39) |
Q2100* |
probably null |
Het |
| Card11 |
A |
C |
5: 140,894,359 (GRCm39) |
V90G |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,709,507 (GRCm39) |
V1451A |
probably benign |
Het |
| Clip4 |
T |
C |
17: 72,113,723 (GRCm39) |
I291T |
probably damaging |
Het |
| Clk1 |
C |
T |
1: 58,458,836 (GRCm39) |
D179N |
probably damaging |
Het |
| Cyp11b2 |
A |
G |
15: 74,723,302 (GRCm39) |
L454P |
probably damaging |
Het |
| Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,883,446 (GRCm39) |
S663P |
unknown |
Het |
| Erich6 |
G |
A |
3: 58,537,300 (GRCm39) |
T238I |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,489 (GRCm39) |
H132Q |
probably benign |
Het |
| Hk2 |
A |
G |
6: 82,707,858 (GRCm39) |
C704R |
probably damaging |
Het |
| Ift74 |
A |
T |
4: 94,575,141 (GRCm39) |
R531W |
possibly damaging |
Het |
| Ism2 |
T |
C |
12: 87,333,832 (GRCm39) |
E71G |
probably benign |
Het |
| Lipe |
A |
C |
7: 25,094,971 (GRCm39) |
S22A |
probably benign |
Het |
| Myl10 |
A |
G |
5: 136,723,147 (GRCm39) |
D32G |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,693,705 (GRCm39) |
H179R |
probably damaging |
Het |
| Or1ad6 |
T |
C |
11: 50,860,379 (GRCm39) |
F178S |
probably damaging |
Het |
| Or2n1b |
T |
C |
17: 38,460,394 (GRCm39) |
F305S |
probably benign |
Het |
| Pdpn |
T |
A |
4: 142,997,108 (GRCm39) |
T129S |
probably damaging |
Het |
| Pold1 |
C |
T |
7: 44,191,582 (GRCm39) |
V135I |
possibly damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,807,134 (GRCm39) |
N199K |
probably damaging |
Het |
| Skil |
T |
C |
3: 31,167,714 (GRCm39) |
S449P |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 69,892,540 (GRCm39) |
L107P |
probably damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,087 (GRCm39) |
M430T |
probably damaging |
Het |
| Tnfaip3 |
G |
A |
10: 18,887,322 (GRCm39) |
L68F |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,733,781 (GRCm39) |
R878H |
probably benign |
Het |
| Vmn2r110 |
T |
A |
17: 20,802,379 (GRCm39) |
M499L |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,638,631 (GRCm39) |
T571A |
probably damaging |
Het |
| Zfp608 |
C |
A |
18: 55,031,096 (GRCm39) |
G948V |
probably damaging |
Het |
| Zswim5 |
A |
G |
4: 116,841,975 (GRCm39) |
I852V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGCCTGAATGGTGGTAGC -3'
(R):5'- AACTGGGGCATGGTTAGAGC -3'
Sequencing Primer
(F):5'- CTGAATGGTGGTAGCTGCCG -3'
(R):5'- TCCCAAGGGTGTGACACAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation