Incidental Mutation 'R2218:Nsrp1'
ID |
241278 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nsrp1
|
Ensembl Gene |
ENSMUSG00000037958 |
Gene Name |
nuclear speckle regulatory protein 1 |
Synonyms |
Ccdc55, NSpr70 |
MMRRC Submission |
040220-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2218 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
76935118-76969261 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 76936587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 536
(Y536*)
|
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: Y536*
|
SMART Domains |
Protein: ENSMUSP00000099552 Gene: ENSMUSG00000037958 AA Change: Y536*
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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abitram |
G |
T |
4: 56,802,693 (GRCm39) |
V26L |
probably damaging |
Het |
Acap3 |
A |
G |
4: 155,988,319 (GRCm39) |
|
probably null |
Het |
Appl2 |
G |
T |
10: 83,444,601 (GRCm39) |
F472L |
possibly damaging |
Het |
Atp13a5 |
A |
T |
16: 29,140,464 (GRCm39) |
V319D |
probably damaging |
Het |
Atxn2 |
T |
C |
5: 121,941,140 (GRCm39) |
Y56H |
probably damaging |
Het |
Brinp1 |
A |
G |
4: 68,680,952 (GRCm39) |
L526P |
probably damaging |
Het |
Cacna1d |
C |
T |
14: 29,845,048 (GRCm39) |
D679N |
probably damaging |
Het |
Canx |
C |
T |
11: 50,201,694 (GRCm39) |
V59I |
probably benign |
Het |
Drd2 |
T |
C |
9: 49,311,094 (GRCm39) |
V115A |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,768,907 (GRCm39) |
Q746L |
probably damaging |
Het |
F13b |
G |
T |
1: 139,434,582 (GRCm39) |
S116I |
probably benign |
Het |
Flt4 |
T |
A |
11: 49,515,555 (GRCm39) |
S48T |
probably benign |
Het |
Gcn1 |
C |
A |
5: 115,757,720 (GRCm39) |
S2475Y |
probably benign |
Het |
Gls2 |
T |
C |
10: 128,040,583 (GRCm39) |
L328P |
probably damaging |
Het |
Gm7535 |
A |
G |
17: 18,131,936 (GRCm39) |
|
probably benign |
Het |
Htr3a |
T |
C |
9: 48,819,911 (GRCm39) |
Y73C |
probably damaging |
Het |
Iapp |
G |
A |
6: 142,249,096 (GRCm39) |
A50T |
probably benign |
Het |
Il10ra |
T |
C |
9: 45,176,914 (GRCm39) |
D137G |
probably benign |
Het |
Krt35 |
T |
C |
11: 99,986,988 (GRCm39) |
S9G |
probably null |
Het |
Lamc2 |
T |
A |
1: 153,006,525 (GRCm39) |
R875S |
probably benign |
Het |
Mcoln1 |
C |
A |
8: 3,555,813 (GRCm39) |
T36K |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,233,227 (GRCm39) |
H885R |
probably benign |
Het |
Or10al4 |
A |
T |
17: 38,037,145 (GRCm39) |
I77F |
probably damaging |
Het |
Polr2a |
A |
G |
11: 69,633,511 (GRCm39) |
|
probably null |
Het |
Pp2d1 |
C |
A |
17: 53,822,482 (GRCm39) |
V195L |
probably benign |
Het |
Rag1 |
T |
C |
2: 101,474,491 (GRCm39) |
H217R |
probably benign |
Het |
Ramp2 |
A |
G |
11: 101,138,457 (GRCm39) |
E86G |
probably benign |
Het |
Rcbtb2 |
T |
C |
14: 73,416,005 (GRCm39) |
|
probably null |
Het |
Sema5a |
A |
T |
15: 32,631,455 (GRCm39) |
I613F |
probably damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Slc39a11 |
C |
A |
11: 113,450,376 (GRCm39) |
|
probably null |
Het |
Slc47a2 |
T |
C |
11: 61,204,497 (GRCm39) |
T285A |
probably benign |
Het |
Timd2 |
T |
A |
11: 46,577,844 (GRCm39) |
I96L |
probably damaging |
Het |
Tkt |
G |
T |
14: 30,289,018 (GRCm39) |
|
probably null |
Het |
Tle1 |
A |
T |
4: 72,117,556 (GRCm39) |
F35I |
possibly damaging |
Het |
Tmem64 |
T |
C |
4: 15,266,658 (GRCm39) |
I236T |
possibly damaging |
Het |
Ttll13 |
A |
G |
7: 79,902,250 (GRCm39) |
K109R |
probably damaging |
Het |
Virma |
T |
C |
4: 11,544,924 (GRCm39) |
S1628P |
probably damaging |
Het |
Zan |
C |
A |
5: 137,408,568 (GRCm39) |
|
probably benign |
Het |
Zbtb22 |
T |
G |
17: 34,136,939 (GRCm39) |
D361E |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,120,756 (GRCm39) |
N277S |
probably benign |
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 |
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 |
|
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'- AGCACTGAAGCTCAAAGAACTG -3'
(R):5'- GTCTAGACCAAAGGACGACC -3'
Sequencing Primer
(F):5'- CTGAAGCTCAAAGAACTGACTTTTG -3'
(R):5'- GGGAAGCCCTCTCATTCTGAAAC -3'
|
Posted On |
2014-10-15 |