Incidental Mutation 'IGL00531:Nsrp1'
| ID |
332452 |
| 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 # |
IGL00531
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
76935118-76969261 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 76937021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 392
(R392*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102494]
[ENSMUST00000127758]
|
| AlphaFold |
Q5NCR9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102494
AA Change: R392*
|
| SMART Domains |
Protein: ENSMUSP00000099552
Gene: ENSMUSG00000037958
AA Change: R392*
| 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 |
probably benign
Transcript: ENSMUST00000127758
|
| SMART Domains |
Protein: ENSMUSP00000118119
Gene: ENSMUSG00000037958
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
|
Pfam:DUF2040
|
51 |
78 |
1.9e-9 |
PFAM |
|
| 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: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dnah17 |
A |
G |
11: 117,933,999 (GRCm39) |
I3525T |
probably damaging |
Het |
| Ednrb |
T |
C |
14: 104,057,455 (GRCm39) |
Y369C |
probably damaging |
Het |
| Folh1 |
T |
A |
7: 86,368,977 (GRCm39) |
I717L |
possibly damaging |
Het |
| Golga2 |
T |
A |
2: 32,195,226 (GRCm39) |
D706E |
probably benign |
Het |
| Miip |
C |
A |
4: 147,950,322 (GRCm39) |
W91C |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,539,171 (GRCm39) |
S2077G |
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,493,357 (GRCm39) |
|
probably benign |
Het |
| Son |
A |
G |
16: 91,461,210 (GRCm39) |
K177R |
probably damaging |
Het |
| Stau1 |
A |
G |
2: 166,806,542 (GRCm39) |
S13P |
probably benign |
Het |
| Tnc |
G |
A |
4: 63,889,390 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
G |
A |
11: 87,964,320 (GRCm39) |
M157I |
probably benign |
Het |
| Zfp281 |
T |
A |
1: 136,555,648 (GRCm39) |
D875E |
probably damaging |
Het |
|
| Other mutations in Nsrp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01478:Nsrp1
|
APN |
11 |
76,941,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-08-05 |
Incidental Mutation