Incidental Mutation 'R3086:Rnps1'
ID |
346534 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnps1
|
Ensembl Gene |
ENSMUSG00000034681 |
Gene Name |
RNA binding protein with serine rich domain 1 |
Synonyms |
|
MMRRC Submission |
040575-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3086 (G1)
|
Quality Score |
35 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24633620-24644872 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 24631393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126345
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039013]
[ENSMUST00000079594]
[ENSMUST00000088512]
[ENSMUST00000115371]
[ENSMUST00000117337]
[ENSMUST00000163717]
|
AlphaFold |
Q99M28 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039013
|
SMART Domains |
Protein: ENSMUSP00000045285 Gene: ENSMUSG00000024130
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
21 |
469 |
2.1e-29 |
PFAM |
AAA
|
558 |
740 |
5.17e-10 |
SMART |
Pfam:ABC2_membrane_3
|
923 |
1323 |
1.8e-35 |
PFAM |
AAA
|
1408 |
1592 |
1.64e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079594
|
SMART Domains |
Protein: ENSMUSP00000078544 Gene: ENSMUSG00000024130
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
22 |
469 |
2.6e-28 |
PFAM |
AAA
|
558 |
740 |
5.17e-10 |
SMART |
Pfam:ABC2_membrane_3
|
923 |
1323 |
5.5e-39 |
PFAM |
AAA
|
1408 |
1592 |
1.64e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000084725
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088512
|
SMART Domains |
Protein: ENSMUSP00000085867 Gene: ENSMUSG00000034681
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
46 |
N/A |
INTRINSIC |
low complexity region
|
55 |
157 |
N/A |
INTRINSIC |
RRM
|
162 |
236 |
5.12e-21 |
SMART |
low complexity region
|
243 |
305 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115371
|
SMART Domains |
Protein: ENSMUSP00000111028 Gene: ENSMUSG00000034681
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
low complexity region
|
32 |
134 |
N/A |
INTRINSIC |
RRM
|
139 |
213 |
5.12e-21 |
SMART |
low complexity region
|
220 |
282 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117337
|
SMART Domains |
Protein: ENSMUSP00000113538 Gene: ENSMUSG00000024130
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
21 |
469 |
1.3e-29 |
PFAM |
AAA
|
558 |
740 |
5.17e-10 |
SMART |
Pfam:ABC2_membrane_3
|
761 |
1068 |
8.8e-29 |
PFAM |
AAA
|
1153 |
1337 |
1.64e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180390
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180721
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181760
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180579
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163717
|
SMART Domains |
Protein: ENSMUSP00000126345 Gene: ENSMUSG00000034681
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
46 |
N/A |
INTRINSIC |
low complexity region
|
55 |
157 |
N/A |
INTRINSIC |
RRM
|
162 |
236 |
5.12e-21 |
SMART |
low complexity region
|
243 |
305 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (42/42) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310039H08Rik |
T |
C |
17: 47,083,881 (GRCm39) |
L48P |
probably damaging |
Het |
Adgra3 |
A |
T |
5: 50,170,733 (GRCm39) |
|
probably null |
Het |
Alms1 |
A |
G |
6: 85,655,122 (GRCm39) |
R3223G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,065,852 (GRCm39) |
D3483G |
possibly damaging |
Het |
Cabyr |
T |
C |
18: 12,884,023 (GRCm39) |
V170A |
probably damaging |
Het |
Ces2b |
A |
T |
8: 105,559,401 (GRCm39) |
D89V |
possibly damaging |
Het |
Dhrs2 |
G |
T |
14: 55,477,301 (GRCm39) |
V179L |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,216,258 (GRCm39) |
T595A |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,510,074 (GRCm39) |
N1585D |
possibly damaging |
Het |
Dock4 |
T |
C |
12: 40,781,862 (GRCm39) |
I689T |
probably benign |
Het |
Fgfr4 |
G |
T |
13: 55,315,205 (GRCm39) |
|
probably benign |
Het |
Frk |
G |
A |
10: 34,483,950 (GRCm39) |
G437D |
probably damaging |
Het |
Frzb |
T |
G |
2: 80,248,858 (GRCm39) |
I199L |
possibly damaging |
Het |
Gsg1l |
C |
T |
7: 125,490,852 (GRCm39) |
R284H |
probably benign |
Het |
Helq |
A |
G |
5: 100,921,858 (GRCm39) |
L782S |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,907,115 (GRCm39) |
F128S |
probably damaging |
Het |
Kifc2 |
T |
C |
15: 76,551,452 (GRCm39) |
F725L |
probably benign |
Het |
Lekr1 |
A |
G |
3: 65,634,581 (GRCm39) |
|
noncoding transcript |
Het |
Macf1 |
T |
A |
4: 123,328,901 (GRCm39) |
M2490L |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,048,444 (GRCm39) |
Y1706N |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,948,396 (GRCm39) |
Y342C |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,437,812 (GRCm39) |
C2057R |
probably damaging |
Het |
Or4f60 |
C |
A |
2: 111,902,320 (GRCm39) |
G203* |
probably null |
Het |
Or4k36 |
A |
G |
2: 111,146,461 (GRCm39) |
I212M |
probably benign |
Het |
Or6c88 |
G |
A |
10: 129,407,276 (GRCm39) |
G251S |
probably damaging |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pcdha1 |
G |
C |
18: 37,064,001 (GRCm39) |
E222Q |
possibly damaging |
Het |
Prune2 |
A |
T |
19: 17,098,777 (GRCm39) |
D1427V |
possibly damaging |
Het |
Rsph4a |
G |
C |
10: 33,785,198 (GRCm39) |
V370L |
probably damaging |
Het |
Sema5b |
T |
A |
16: 35,443,093 (GRCm39) |
S33T |
probably benign |
Het |
Stk-ps2 |
A |
C |
1: 46,068,236 (GRCm39) |
|
noncoding transcript |
Het |
Tep1 |
A |
T |
14: 51,064,511 (GRCm39) |
|
probably null |
Het |
Tet1 |
T |
C |
10: 62,715,400 (GRCm39) |
K132E |
probably benign |
Het |
Tiam2 |
A |
G |
17: 3,471,857 (GRCm39) |
K500E |
probably damaging |
Het |
Tmem131l |
G |
T |
3: 83,839,046 (GRCm39) |
R635S |
probably benign |
Het |
Tmem68 |
T |
C |
4: 3,569,594 (GRCm39) |
E32G |
possibly damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,809,077 (GRCm39) |
|
probably null |
Het |
Zfp780b |
A |
G |
7: 27,663,055 (GRCm39) |
I500T |
probably damaging |
Het |
Zfyve26 |
G |
T |
12: 79,312,457 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Rnps1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01339:Rnps1
|
APN |
17 |
24,641,273 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01433:Rnps1
|
APN |
17 |
24,643,519 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01984:Rnps1
|
APN |
17 |
24,643,371 (GRCm39) |
splice site |
probably benign |
|
IGL03410:Rnps1
|
APN |
17 |
24,640,835 (GRCm39) |
splice site |
probably benign |
|
unbalanced
|
UTSW |
17 |
24,641,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R0594:Rnps1
|
UTSW |
17 |
24,643,411 (GRCm39) |
missense |
probably damaging |
0.99 |
R1397:Rnps1
|
UTSW |
17 |
24,631,031 (GRCm39) |
unclassified |
probably benign |
|
R1938:Rnps1
|
UTSW |
17 |
24,639,364 (GRCm39) |
missense |
unknown |
|
R2321:Rnps1
|
UTSW |
17 |
24,641,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R3085:Rnps1
|
UTSW |
17 |
24,631,393 (GRCm39) |
unclassified |
probably benign |
|
R4296:Rnps1
|
UTSW |
17 |
24,644,089 (GRCm39) |
unclassified |
probably benign |
|
R5159:Rnps1
|
UTSW |
17 |
24,637,486 (GRCm39) |
missense |
unknown |
|
R5193:Rnps1
|
UTSW |
17 |
24,637,517 (GRCm39) |
missense |
probably benign |
0.23 |
R5753:Rnps1
|
UTSW |
17 |
24,637,138 (GRCm39) |
intron |
probably benign |
|
R7378:Rnps1
|
UTSW |
17 |
24,637,504 (GRCm39) |
missense |
unknown |
|
R7403:Rnps1
|
UTSW |
17 |
24,644,061 (GRCm39) |
missense |
unknown |
|
R7690:Rnps1
|
UTSW |
17 |
24,637,168 (GRCm39) |
missense |
unknown |
|
R8104:Rnps1
|
UTSW |
17 |
24,643,484 (GRCm39) |
missense |
unknown |
|
R8425:Rnps1
|
UTSW |
17 |
24,637,143 (GRCm39) |
missense |
unknown |
|
R8936:Rnps1
|
UTSW |
17 |
24,641,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R9005:Rnps1
|
UTSW |
17 |
24,637,496 (GRCm39) |
missense |
unknown |
|
R9109:Rnps1
|
UTSW |
17 |
24,637,573 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTACACTTGATTTATAAAGCCCAG -3'
(R):5'- ACCGAAGAAGCTGGGCTAAC -3'
Sequencing Primer
(F):5'- ATAAAGCCCAGGATATTTAGCAAC -3'
(R):5'- GGGCTAACAGCTTCTCCC -3'
|
Posted On |
2015-09-29 |