Incidental Mutation 'R4469:Nostrin'
| ID |
329305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nostrin
|
| Ensembl Gene |
ENSMUSG00000034738 |
| Gene Name |
nitric oxide synthase trafficker |
| Synonyms |
mDaIP2 |
| MMRRC Submission |
041726-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.362)
|
| Stock # |
R4469 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
68966144-69019674 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 69006061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 248
(I248M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041865]
|
| AlphaFold |
Q6WKZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041865
AA Change: I248M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738
AA Change: I248M
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
100% (52/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,606,345 (GRCm39) |
K196E |
probably damaging |
Het |
| Ackr1 |
T |
C |
1: 173,160,112 (GRCm39) |
|
probably null |
Het |
| Adgra1 |
C |
T |
7: 139,455,977 (GRCm39) |
T535I |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,623,326 (GRCm39) |
Y310H |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,033 (GRCm39) |
I928T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asb4 |
C |
A |
6: 5,423,409 (GRCm39) |
F185L |
probably benign |
Het |
| Ces2g |
A |
T |
8: 105,692,602 (GRCm39) |
I301F |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
| Cntnap4 |
A |
T |
8: 113,391,898 (GRCm39) |
N121I |
probably damaging |
Het |
| Csf1 |
C |
T |
3: 107,657,997 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
A |
1: 53,483,685 (GRCm39) |
H3364L |
probably benign |
Het |
| Dnmt3c |
A |
G |
2: 153,562,280 (GRCm39) |
T555A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,230,923 (GRCm39) |
T3017A |
probably benign |
Het |
| Efcab7 |
A |
G |
4: 99,766,901 (GRCm39) |
D482G |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,925,528 (GRCm39) |
V154A |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,312,454 (GRCm39) |
|
silent |
Het |
| G6pd2 |
A |
T |
5: 61,966,288 (GRCm39) |
Y21F |
probably benign |
Het |
| Gm9376 |
C |
T |
14: 118,505,011 (GRCm39) |
P148S |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Gtpbp2 |
A |
G |
17: 46,472,239 (GRCm39) |
Y58C |
probably damaging |
Het |
| Hcrtr2 |
T |
A |
9: 76,137,838 (GRCm39) |
T426S |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,853,794 (GRCm39) |
Y613* |
probably null |
Het |
| Hsd17b1 |
A |
T |
11: 100,970,838 (GRCm39) |
M265L |
probably benign |
Het |
| Ier3ip1 |
A |
G |
18: 77,028,294 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,404,940 (GRCm39) |
M924V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lancl2 |
T |
A |
6: 57,690,019 (GRCm39) |
L75H |
probably damaging |
Het |
| Mfsd4b1 |
T |
C |
10: 39,888,091 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
A |
T |
8: 95,247,467 (GRCm39) |
I1588F |
probably damaging |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or14j1 |
T |
C |
17: 38,146,607 (GRCm39) |
L239P |
probably benign |
Het |
| Qng1 |
A |
G |
13: 58,530,239 (GRCm39) |
L257P |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,953,944 (GRCm39) |
V266A |
probably benign |
Het |
| Ror2 |
G |
A |
13: 53,286,016 (GRCm39) |
T66M |
possibly damaging |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
| Smad9 |
T |
C |
3: 54,690,182 (GRCm39) |
V134A |
probably damaging |
Het |
| Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
| Ssbp2 |
G |
A |
13: 91,842,175 (GRCm39) |
G302D |
probably damaging |
Het |
| Stom |
T |
C |
2: 35,211,545 (GRCm39) |
N159D |
possibly damaging |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,285,035 (GRCm39) |
K37R |
probably benign |
Het |
| Trim75 |
A |
G |
8: 65,436,369 (GRCm39) |
V27A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,548,105 (GRCm39) |
T32066A |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
| Ubp1 |
C |
T |
9: 113,787,775 (GRCm39) |
T222I |
probably benign |
Het |
| Unc5cl |
C |
G |
17: 48,766,833 (GRCm39) |
P69R |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,961,950 (GRCm39) |
C24S |
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 |
|
|
R4607:Nostrin
|
UTSW |
2 |
69,014,243 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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'- TTTATTCTCTTCAGAGCATGCTGG -3'
(R):5'- GCCTGACTTCTCAATACGTGG -3'
Sequencing Primer
(F):5'- CTTCAGAGCATGCTGGAGCTG -3'
(R):5'- CTTCTCAATACGTGGCCAAGATGAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation