Incidental Mutation 'IGL01915:Nosip'
| ID |
179908 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nosip
|
| Ensembl Gene |
ENSMUSG00000003421 |
| Gene Name |
nitric oxide synthase interacting protein |
| Synonyms |
CGI-25, 2310061K06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
IGL01915
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44711853-44727634 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44726283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 230
(I230N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003513]
[ENSMUST00000107829]
[ENSMUST00000210088]
[ENSMUST00000210520]
[ENSMUST00000211465]
|
| AlphaFold |
Q9D6T0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003513
AA Change: I255N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003513
Gene: ENSMUSG00000003421
AA Change: I255N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-NOSIP
|
4 |
78 |
1.2e-55 |
PFAM |
|
coiled coil region
|
83 |
108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107829
AA Change: I230N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103460
Gene: ENSMUSG00000003421
AA Change: I230N
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1rmd_2
|
31 |
79 |
2e-4 |
SMART |
|
Blast:RING
|
46 |
226 |
4e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209901
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210088
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210668
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210998
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
T |
C |
13: 23,607,938 (GRCm39) |
E22G |
unknown |
Het |
| Aoc1l2 |
T |
A |
6: 48,908,582 (GRCm39) |
D527E |
probably damaging |
Het |
| Atp11b |
T |
G |
3: 35,885,612 (GRCm39) |
H668Q |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,938,715 (GRCm39) |
V2687D |
probably benign |
Het |
| Cadm3 |
T |
C |
1: 173,168,675 (GRCm39) |
T298A |
possibly damaging |
Het |
| Car12 |
G |
A |
9: 66,670,552 (GRCm39) |
A174T |
possibly damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,904,544 (GRCm39) |
L380P |
probably damaging |
Het |
| Col7a1 |
A |
T |
9: 108,784,813 (GRCm39) |
R214W |
unknown |
Het |
| Cyp2d26 |
T |
G |
15: 82,674,450 (GRCm39) |
R477S |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,853,780 (GRCm39) |
V541A |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,076,392 (GRCm39) |
F797I |
probably damaging |
Het |
| Dot1l |
A |
T |
10: 80,616,728 (GRCm39) |
N63I |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,874,357 (GRCm39) |
I772T |
probably benign |
Het |
| Or2r3 |
A |
T |
6: 42,448,223 (GRCm39) |
D296E |
probably benign |
Het |
| Or4d11 |
A |
T |
19: 12,013,461 (GRCm39) |
L215Q |
probably damaging |
Het |
| Or5ac22 |
T |
A |
16: 59,135,473 (GRCm39) |
Q99L |
probably damaging |
Het |
| Or6c210 |
G |
A |
10: 129,496,519 (GRCm39) |
M281I |
probably benign |
Het |
| Orc5 |
A |
T |
5: 22,727,381 (GRCm39) |
|
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,425,907 (GRCm39) |
I879M |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,699,370 (GRCm39) |
S1031P |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,371,725 (GRCm39) |
S2557P |
probably damaging |
Het |
| Rccd1 |
T |
C |
7: 79,969,966 (GRCm39) |
|
probably benign |
Het |
| Rsad1 |
A |
G |
11: 94,439,803 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,373,864 (GRCm39) |
C1132* |
probably null |
Het |
| Sema6d |
A |
G |
2: 124,500,491 (GRCm39) |
|
probably benign |
Het |
| Slc10a5 |
T |
C |
3: 10,400,580 (GRCm39) |
N27D |
probably damaging |
Het |
| Slco1a5 |
C |
T |
6: 142,189,599 (GRCm39) |
M462I |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,440,628 (GRCm39) |
T45A |
probably damaging |
Het |
| Usp21 |
T |
A |
1: 171,110,307 (GRCm39) |
Q489L |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r20 |
A |
G |
6: 123,370,924 (GRCm39) |
S519P |
possibly damaging |
Het |
|
| Other mutations in Nosip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02245:Nosip
|
APN |
7 |
44,723,466 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02385:Nosip
|
APN |
7 |
44,726,156 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02676:Nosip
|
APN |
7 |
44,726,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Nosip
|
UTSW |
7 |
44,726,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Nosip
|
UTSW |
7 |
44,723,430 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1812:Nosip
|
UTSW |
7 |
44,725,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1843:Nosip
|
UTSW |
7 |
44,726,733 (GRCm39) |
splice site |
probably null |
|
|
R2018:Nosip
|
UTSW |
7 |
44,726,033 (GRCm39) |
missense |
probably benign |
|
|
R2359:Nosip
|
UTSW |
7 |
44,723,450 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4857:Nosip
|
UTSW |
7 |
44,726,102 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6072:Nosip
|
UTSW |
7 |
44,726,072 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6370:Nosip
|
UTSW |
7 |
44,726,164 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7973:Nosip
|
UTSW |
7 |
44,726,784 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0026:Nosip
|
UTSW |
7 |
44,725,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation