Incidental Mutation 'R4607:Nostrin'
| ID |
346057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nostrin
|
| Ensembl Gene |
ENSMUSG00000034738 |
| Gene Name |
nitric oxide synthase trafficker |
| Synonyms |
mDaIP2 |
| MMRRC Submission |
041818-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.362)
|
| Stock # |
R4607 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
68966144-69019674 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69014243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 400
(V400M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041865]
|
| AlphaFold |
Q6WKZ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041865
AA Change: V400M
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738
AA Change: V400M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
13 |
88 |
4.9e-12 |
PFAM |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
coiled coil region
|
160 |
190 |
N/A |
INTRINSIC |
|
coiled coil region
|
305 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
|
SH3
|
441 |
496 |
8.89e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141276
|
| Meta Mutation Damage Score |
0.1366 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (65/67) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired retinal vascular angiogenesis, endothelial cell proliferation, endothelial cell migration and induced neovascularization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
A |
10: 106,802,890 (GRCm39) |
I452F |
possibly damaging |
Het |
| Adgra3 |
A |
C |
5: 50,128,081 (GRCm39) |
V800G |
probably damaging |
Het |
| Aldh1a1 |
A |
T |
19: 20,599,051 (GRCm39) |
Y154F |
probably benign |
Het |
| Bbs10 |
T |
G |
10: 111,136,681 (GRCm39) |
I598S |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Ccnl1 |
C |
T |
3: 65,854,131 (GRCm39) |
|
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,134,078 (GRCm39) |
I310V |
possibly damaging |
Het |
| Cpeb3 |
A |
G |
19: 37,152,239 (GRCm39) |
S46P |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,650,475 (GRCm39) |
I151T |
possibly damaging |
Het |
| Dsg4 |
C |
T |
18: 20,604,302 (GRCm39) |
T923M |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,853,769 (GRCm39) |
R618L |
probably benign |
Het |
| Erlin1 |
C |
T |
19: 44,051,474 (GRCm39) |
V76M |
probably damaging |
Het |
| Fam161a |
G |
A |
11: 22,970,710 (GRCm39) |
S296N |
probably benign |
Het |
| Fam187b |
T |
A |
7: 30,677,170 (GRCm39) |
N226K |
probably benign |
Het |
| Fes |
G |
A |
7: 80,036,959 (GRCm39) |
R42W |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 52,993,728 (GRCm39) |
N374K |
possibly damaging |
Het |
| Fpgt |
G |
A |
3: 154,792,333 (GRCm39) |
Q565* |
probably null |
Het |
| Gm26657 |
C |
A |
4: 56,741,114 (GRCm39) |
H100N |
probably benign |
Het |
| Gna14 |
A |
G |
19: 16,511,075 (GRCm39) |
|
probably null |
Het |
| Gsg1l |
T |
A |
7: 125,557,721 (GRCm39) |
I136F |
probably damaging |
Het |
| Hhip |
C |
T |
8: 80,724,192 (GRCm39) |
R350Q |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,263,271 (GRCm39) |
R394Q |
probably damaging |
Het |
| Ipo11 |
A |
G |
13: 107,037,319 (GRCm39) |
S175P |
probably damaging |
Het |
| Klk13 |
C |
A |
7: 43,363,284 (GRCm39) |
C10* |
probably null |
Het |
| Leng8 |
T |
A |
7: 4,147,796 (GRCm39) |
I607N |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,333,030 (GRCm39) |
L68P |
probably damaging |
Het |
| Memo1 |
G |
A |
17: 74,565,456 (GRCm39) |
Q36* |
probably null |
Het |
| Mink1 |
A |
G |
11: 70,496,893 (GRCm39) |
E417G |
possibly damaging |
Het |
| Myrf |
G |
T |
19: 10,206,431 (GRCm39) |
D29E |
probably damaging |
Het |
| Nelfcd |
T |
A |
2: 174,264,955 (GRCm39) |
D215E |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,089,920 (GRCm39) |
T546A |
probably benign |
Het |
| Or13a24 |
A |
G |
7: 140,154,554 (GRCm39) |
M163V |
probably benign |
Het |
| Or1l4 |
T |
A |
2: 37,092,094 (GRCm39) |
Y280* |
probably null |
Het |
| Or2h2b-ps1 |
A |
T |
17: 37,481,173 (GRCm39) |
V20E |
probably damaging |
Het |
| Or4c114 |
G |
T |
2: 88,904,656 (GRCm39) |
P260T |
probably benign |
Het |
| Or6aa1 |
A |
T |
7: 86,043,718 (GRCm39) |
|
probably null |
Het |
| Or8g32 |
T |
C |
9: 39,306,031 (GRCm39) |
*312Q |
probably null |
Het |
| P2ry6 |
A |
G |
7: 100,587,511 (GRCm39) |
Y283H |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 93,253,009 (GRCm39) |
N1218I |
probably benign |
Het |
| Pcdhga6 |
A |
G |
18: 37,841,671 (GRCm39) |
N464D |
probably damaging |
Het |
| Pramel52-ps |
G |
T |
5: 94,531,387 (GRCm39) |
R90S |
probably benign |
Het |
| Rdx |
T |
A |
9: 51,980,137 (GRCm39) |
S243R |
probably damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,594,196 (GRCm39) |
N66S |
probably damaging |
Het |
| Slit1 |
C |
A |
19: 41,605,232 (GRCm39) |
R873L |
probably benign |
Het |
| Spata31e3 |
G |
A |
13: 50,399,542 (GRCm39) |
T928I |
possibly damaging |
Het |
| Strc |
T |
A |
2: 121,203,426 (GRCm39) |
I1130F |
probably benign |
Het |
| Tlk2 |
T |
A |
11: 105,145,844 (GRCm39) |
L350Q |
probably damaging |
Het |
| Tmem74 |
G |
T |
15: 43,730,554 (GRCm39) |
T163K |
probably damaging |
Het |
| Trav15-1-dv6-1 |
T |
A |
14: 53,797,511 (GRCm39) |
H53Q |
probably benign |
Het |
| Trbv24 |
T |
C |
6: 41,195,335 (GRCm39) |
|
probably benign |
Het |
| Uba2 |
T |
C |
7: 33,854,021 (GRCm39) |
D307G |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,131,134 (GRCm39) |
R924Q |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,910,651 (GRCm39) |
T681I |
probably benign |
Het |
| Zbtb42 |
C |
T |
12: 112,646,976 (GRCm39) |
R384W |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,305,195 (GRCm39) |
C207* |
probably null |
Het |
| Zfp512b |
C |
A |
2: 181,230,567 (GRCm39) |
R441L |
probably damaging |
Het |
|
| Other mutations in Nostrin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Nostrin
|
APN |
2 |
69,015,898 (GRCm39) |
splice site |
probably benign |
|
|
IGL00502:Nostrin
|
APN |
2 |
69,014,336 (GRCm39) |
missense |
probably benign |
|
|
IGL00767:Nostrin
|
APN |
2 |
69,006,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00846:Nostrin
|
APN |
2 |
69,015,899 (GRCm39) |
splice site |
probably benign |
|
|
IGL00912:Nostrin
|
APN |
2 |
69,013,163 (GRCm39) |
splice site |
probably benign |
|
|
IGL02123:Nostrin
|
APN |
2 |
68,986,453 (GRCm39) |
splice site |
probably benign |
|
|
IGL02213:Nostrin
|
APN |
2 |
69,014,262 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0295:Nostrin
|
UTSW |
2 |
69,009,760 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0543:Nostrin
|
UTSW |
2 |
69,019,475 (GRCm39) |
makesense |
probably null |
|
|
R1384:Nostrin
|
UTSW |
2 |
69,019,406 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1501:Nostrin
|
UTSW |
2 |
68,989,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1632:Nostrin
|
UTSW |
2 |
69,006,078 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2012:Nostrin
|
UTSW |
2 |
68,975,111 (GRCm39) |
splice site |
probably null |
|
|
R2140:Nostrin
|
UTSW |
2 |
68,996,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2159:Nostrin
|
UTSW |
2 |
69,011,266 (GRCm39) |
splice site |
probably null |
|
|
R2329:Nostrin
|
UTSW |
2 |
68,991,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2890:Nostrin
|
UTSW |
2 |
69,011,249 (GRCm39) |
missense |
probably benign |
|
|
R4469:Nostrin
|
UTSW |
2 |
69,006,061 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4608:Nostrin
|
UTSW |
2 |
69,014,243 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4684:Nostrin
|
UTSW |
2 |
69,014,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4719:Nostrin
|
UTSW |
2 |
68,975,156 (GRCm39) |
nonsense |
probably null |
|
|
R4846:Nostrin
|
UTSW |
2 |
69,005,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Nostrin
|
UTSW |
2 |
68,991,486 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4987:Nostrin
|
UTSW |
2 |
68,986,775 (GRCm39) |
missense |
probably benign |
|
|
R5054:Nostrin
|
UTSW |
2 |
69,006,057 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5177:Nostrin
|
UTSW |
2 |
69,006,098 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6561:Nostrin
|
UTSW |
2 |
69,011,201 (GRCm39) |
missense |
probably benign |
|
|
R6785:Nostrin
|
UTSW |
2 |
69,014,271 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6789:Nostrin
|
UTSW |
2 |
69,005,856 (GRCm39) |
missense |
probably benign |
|
|
R7453:Nostrin
|
UTSW |
2 |
69,014,240 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7465:Nostrin
|
UTSW |
2 |
69,015,851 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7570:Nostrin
|
UTSW |
2 |
69,006,150 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7761:Nostrin
|
UTSW |
2 |
68,991,466 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7802:Nostrin
|
UTSW |
2 |
69,019,356 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8115:Nostrin
|
UTSW |
2 |
69,011,264 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8160:Nostrin
|
UTSW |
2 |
69,009,810 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8844:Nostrin
|
UTSW |
2 |
69,006,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9046:Nostrin
|
UTSW |
2 |
68,975,123 (GRCm39) |
missense |
probably benign |
|
|
X0021:Nostrin
|
UTSW |
2 |
68,975,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGCATATGGGTCCAAATAGG -3'
(R):5'- TGTACCCGTGCATTCCTAAC -3'
Sequencing Primer
(F):5'- CGTAAACACAGAAGGTCTTAGAAATG -3'
(R):5'- AAATTCATTACTCTCAACCAAGAGG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation