Incidental Mutation 'IGL01478:Nsrp1'
| ID |
88525 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nsrp1
|
| Ensembl Gene |
ENSMUSG00000037958 |
| Gene Name |
nuclear speckle regulatory protein 1 |
| Synonyms |
Ccdc55, NSpr70 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
76935118-76969261 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76941478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 73
(V73I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102494]
[ENSMUST00000127758]
|
| AlphaFold |
Q5NCR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102494
AA Change: V77I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099552
Gene: ENSMUSG00000037958
AA Change: V77I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
Pfam:DUF2040
|
57 |
176 |
1.1e-40 |
PFAM |
|
low complexity region
|
359 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104451
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127758
AA Change: V73I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118119
Gene: ENSMUSG00000037958
AA Change: V73I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
|
Pfam:DUF2040
|
51 |
78 |
1.9e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134685
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit die prior to E6.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,911,590 (GRCm39) |
T613A |
probably benign |
Het |
| Cdh16 |
G |
T |
8: 105,341,120 (GRCm39) |
|
probably benign |
Het |
| Epn2 |
A |
G |
11: 61,413,912 (GRCm39) |
S419P |
probably benign |
Het |
| Eral1 |
A |
T |
11: 77,966,558 (GRCm39) |
V234D |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,678,949 (GRCm39) |
K576E |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,305,254 (GRCm39) |
D170V |
probably damaging |
Het |
| Gm4353 |
A |
G |
7: 115,682,975 (GRCm39) |
V202A |
possibly damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,324,531 (GRCm39) |
I245T |
probably benign |
Het |
| Igsf23 |
G |
A |
7: 19,672,161 (GRCm39) |
|
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,754,721 (GRCm39) |
|
probably benign |
Het |
| Mapk8 |
A |
G |
14: 33,105,857 (GRCm39) |
V371A |
probably benign |
Het |
| Mtrf1 |
T |
G |
14: 79,640,360 (GRCm39) |
|
probably benign |
Het |
| Myzap |
A |
G |
9: 71,422,349 (GRCm39) |
|
probably null |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,555 (GRCm39) |
I128T |
probably damaging |
Het |
| Or8k39 |
A |
T |
2: 86,563,673 (GRCm39) |
Y94* |
probably null |
Het |
| Pex6 |
C |
T |
17: 47,036,230 (GRCm39) |
R976C |
probably benign |
Het |
| Ranbp9 |
G |
A |
13: 43,567,560 (GRCm39) |
T546I |
probably benign |
Het |
| Rfx5 |
T |
C |
3: 94,865,751 (GRCm39) |
V350A |
possibly damaging |
Het |
| Rnf19b |
A |
G |
4: 128,952,623 (GRCm39) |
E187G |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,183,946 (GRCm39) |
V1217A |
probably damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,533,478 (GRCm39) |
D618E |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,493,672 (GRCm39) |
E1697G |
probably benign |
Het |
| Syk |
A |
G |
13: 52,778,784 (GRCm39) |
Y290C |
probably benign |
Het |
| Trim69 |
T |
C |
2: 122,008,924 (GRCm39) |
L328P |
probably damaging |
Het |
| Unc5c |
T |
A |
3: 141,534,212 (GRCm39) |
I911N |
probably damaging |
Het |
| Wdr5 |
T |
C |
2: 27,423,844 (GRCm39) |
V294A |
probably damaging |
Het |
|
| Other mutations in Nsrp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00531:Nsrp1
|
APN |
11 |
76,937,021 (GRCm39) |
nonsense |
probably null |
|
|
R0413:Nsrp1
|
UTSW |
11 |
76,936,997 (GRCm39) |
missense |
probably benign |
|
|
R0959:Nsrp1
|
UTSW |
11 |
76,937,285 (GRCm39) |
nonsense |
probably null |
|
|
R1187:Nsrp1
|
UTSW |
11 |
76,936,853 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1375:Nsrp1
|
UTSW |
11 |
76,941,543 (GRCm39) |
splice site |
probably benign |
|
|
R1513:Nsrp1
|
UTSW |
11 |
76,937,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1969:Nsrp1
|
UTSW |
11 |
76,936,612 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2113:Nsrp1
|
UTSW |
11 |
76,937,396 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2135:Nsrp1
|
UTSW |
11 |
76,945,834 (GRCm39) |
splice site |
probably benign |
|
|
R2217:Nsrp1
|
UTSW |
11 |
76,936,587 (GRCm39) |
nonsense |
probably null |
|
|
R2218:Nsrp1
|
UTSW |
11 |
76,936,587 (GRCm39) |
nonsense |
probably null |
|
|
R4751:Nsrp1
|
UTSW |
11 |
76,967,545 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4831:Nsrp1
|
UTSW |
11 |
76,941,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4938:Nsrp1
|
UTSW |
11 |
76,936,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5319:Nsrp1
|
UTSW |
11 |
76,940,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6286:Nsrp1
|
UTSW |
11 |
76,940,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7221:Nsrp1
|
UTSW |
11 |
76,939,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Nsrp1
|
UTSW |
11 |
76,940,097 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8005:Nsrp1
|
UTSW |
11 |
76,936,612 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8119:Nsrp1
|
UTSW |
11 |
76,939,177 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9042:Nsrp1
|
UTSW |
11 |
76,941,477 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9233:Nsrp1
|
UTSW |
11 |
76,937,036 (GRCm39) |
missense |
probably benign |
|
|
R9248:Nsrp1
|
UTSW |
11 |
76,937,036 (GRCm39) |
missense |
probably benign |
|
|
R9487:Nsrp1
|
UTSW |
11 |
76,937,114 (GRCm39) |
nonsense |
probably null |
|
|
R9592:Nsrp1
|
UTSW |
11 |
76,940,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9710:Nsrp1
|
UTSW |
11 |
76,967,503 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0022:Nsrp1
|
UTSW |
11 |
76,937,095 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Nsrp1
|
UTSW |
11 |
76,941,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation