Incidental Mutation 'R1375:Nsrp1'
| ID |
157481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsrp1
|
| Ensembl Gene |
ENSMUSG00000037958 |
| Gene Name |
nuclear speckle regulatory protein 1 |
| Synonyms |
Ccdc55, NSpr70 |
| MMRRC Submission |
039439-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1375 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76935118-76969261 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 76941543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102494]
[ENSMUST00000127758]
|
| AlphaFold |
Q5NCR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102494
|
| SMART Domains |
Protein: ENSMUSP00000099552
Gene: ENSMUSG00000037958
| 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
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134685
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.8%
- 20x: 89.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,243,042 (GRCm39) |
V1268A |
possibly damaging |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Cep85l |
A |
T |
10: 53,225,354 (GRCm39) |
D78E |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,513,095 (GRCm39) |
|
probably null |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Defb15 |
T |
C |
8: 22,420,071 (GRCm39) |
N19D |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,956,269 (GRCm39) |
G2083D |
probably damaging |
Het |
| Ggn |
T |
C |
7: 28,871,366 (GRCm39) |
S249P |
probably damaging |
Het |
| Gm17541 |
A |
T |
12: 4,739,825 (GRCm39) |
|
probably benign |
Het |
| Gnptab |
T |
A |
10: 88,268,435 (GRCm39) |
L514Q |
probably damaging |
Het |
| Heg1 |
C |
A |
16: 33,547,246 (GRCm39) |
H678N |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,547,679 (GRCm39) |
I846T |
possibly damaging |
Het |
| Hydin |
G |
A |
8: 111,232,854 (GRCm39) |
|
probably null |
Het |
| Il17b |
T |
C |
18: 61,823,325 (GRCm39) |
V53A |
probably benign |
Het |
| Inpp5f |
T |
A |
7: 128,265,753 (GRCm39) |
L166* |
probably null |
Het |
| Mdfic2 |
C |
T |
6: 98,215,260 (GRCm39) |
C121Y |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,653,568 (GRCm39) |
|
probably null |
Het |
| Nup205 |
T |
C |
6: 35,177,006 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,484,039 (GRCm39) |
N11S |
possibly damaging |
Het |
| Or5w1b |
T |
A |
2: 87,476,081 (GRCm39) |
N129Y |
probably damaging |
Het |
| Or6b6 |
A |
G |
7: 106,571,305 (GRCm39) |
L82P |
probably damaging |
Het |
| Or6c211 |
A |
T |
10: 129,506,241 (GRCm39) |
L12Q |
probably null |
Het |
| Or8b46 |
T |
A |
9: 38,450,830 (GRCm39) |
V213D |
possibly damaging |
Het |
| Pipox |
C |
A |
11: 77,772,036 (GRCm39) |
E363* |
probably null |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rpp30 |
T |
C |
19: 36,078,673 (GRCm39) |
|
probably null |
Het |
| Septin1 |
T |
C |
7: 126,817,333 (GRCm39) |
D25G |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,805,106 (GRCm39) |
N152D |
possibly damaging |
Het |
| Tasor2 |
A |
G |
13: 3,626,029 (GRCm39) |
V1307A |
probably benign |
Het |
| Thsd7b |
A |
T |
1: 130,087,423 (GRCm39) |
N1180I |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCCTGATGAAAGCACAGCAC -3'
(R):5'- TGAAGCGATTATCGTTGCTGCCC -3'
Sequencing Primer
(F):5'- GATGAAAGCACAGCACTAACCTTC -3'
(R):5'- gcacacaaagactgaagcaaac -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation