Incidental Mutation 'R1397:Rnps1'
| ID |
160204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnps1
|
| Ensembl Gene |
ENSMUSG00000034681 |
| Gene Name |
RNA binding protein with serine rich domain 1 |
| Synonyms |
|
| MMRRC Submission |
039459-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1397 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24633620-24644872 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 24631031 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181760
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180579
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.0%
|
| Validation Efficiency |
98% (59/60) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,504,733 (GRCm39) |
E1222G |
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,220,440 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
C |
T |
4: 140,271,754 (GRCm39) |
G827D |
probably damaging |
Het |
| Chrac1 |
A |
G |
15: 72,962,293 (GRCm39) |
D3G |
possibly damaging |
Het |
| Dmrtb1 |
G |
C |
4: 107,534,236 (GRCm39) |
P349R |
probably damaging |
Het |
| Drd1 |
A |
G |
13: 54,207,573 (GRCm39) |
Y207H |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,569,343 (GRCm39) |
|
probably null |
Het |
| Fam13b |
C |
T |
18: 34,578,636 (GRCm39) |
M705I |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,768,673 (GRCm39) |
I1409T |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,651,862 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,245,618 (GRCm39) |
D569V |
probably benign |
Het |
| Krt9 |
A |
T |
11: 100,083,464 (GRCm39) |
L189Q |
probably damaging |
Het |
| Mfsd11 |
T |
C |
11: 116,764,123 (GRCm39) |
F368S |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,133,955 (GRCm39) |
V3343F |
probably damaging |
Het |
| Nfe2l3 |
T |
C |
6: 51,410,274 (GRCm39) |
S130P |
probably benign |
Het |
| Nid1 |
G |
A |
13: 13,683,380 (GRCm39) |
A1153T |
possibly damaging |
Het |
| Nr2c2 |
T |
C |
6: 92,126,745 (GRCm39) |
I78T |
probably benign |
Het |
| Nrp1 |
T |
G |
8: 129,145,197 (GRCm39) |
Y84* |
probably null |
Het |
| Pate2 |
T |
A |
9: 35,580,991 (GRCm39) |
F2I |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,585,496 (GRCm39) |
S18P |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,365,106 (GRCm39) |
T155S |
probably benign |
Het |
| Rabl3 |
C |
T |
16: 37,360,336 (GRCm39) |
|
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,155,753 (GRCm39) |
V66I |
probably benign |
Het |
| Rimkla |
C |
T |
4: 119,325,308 (GRCm39) |
G367E |
probably benign |
Het |
| Rnpepl1 |
C |
A |
1: 92,844,881 (GRCm39) |
T391N |
probably damaging |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Slc25a48 |
A |
C |
13: 56,612,864 (GRCm39) |
D254A |
probably damaging |
Het |
| Slc28a2 |
T |
A |
2: 122,291,012 (GRCm39) |
C659* |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Spata31d1a |
C |
T |
13: 59,852,853 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
A |
C |
4: 135,048,742 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
G |
5: 137,298,523 (GRCm39) |
V247A |
possibly damaging |
Het |
| Tnks2 |
T |
C |
19: 36,857,901 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,217,750 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
T |
A |
9: 97,247,674 (GRCm39) |
I341F |
probably damaging |
Het |
| Trim55 |
T |
C |
3: 19,698,801 (GRCm39) |
F10S |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,867,406 (GRCm39) |
W369R |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,867,904 (GRCm39) |
R1976H |
probably damaging |
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 |
|
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 |
|
|
R3086: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'- TGCCCACCAGGATGAGCATGAA -3'
(R):5'- AATCAAGTGTACCATCAAGCTGCTGAG -3'
Sequencing Primer
(F):5'- agccatctctccagccc -3'
(R):5'- AGCTCTGAAAGCTGAGCTTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation