Incidental Mutation 'IGL01131:Rbms1'
| ID |
50589 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbms1
|
| Ensembl Gene |
ENSMUSG00000026970 |
| Gene Name |
RNA binding motif, single stranded interacting protein 1 |
| Synonyms |
MSSP-3, 2600014B10Rik, MSSP-2, YC1, MSSP-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
60580537-60793536 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60589180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 287
(M287V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028347]
[ENSMUST00000112509]
[ENSMUST00000164147]
|
| AlphaFold |
Q91W59 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028347
AA Change: M304V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028347
Gene: ENSMUSG00000026970
AA Change: M304V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
|
RRM
|
63 |
131 |
4.56e-18 |
SMART |
|
RRM
|
142 |
213 |
2.43e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112509
AA Change: M287V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000108128
Gene: ENSMUSG00000026970
AA Change: M287V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
|
RRM
|
30 |
98 |
4.56e-18 |
SMART |
|
RRM
|
109 |
180 |
2.43e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164147
AA Change: M318V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131306
Gene: ENSMUSG00000026970
AA Change: M318V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
52 |
N/A |
INTRINSIC |
|
RRM
|
61 |
129 |
4.56e-18 |
SMART |
|
RRM
|
140 |
211 |
2.43e-13 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]
PHENOTYPE: Only about half the expected number of mice homozygous for disruptions in this gene are produced in matings of heterozygotes. Embryo sizes are reduced. Females have smaller than normal uteri and decreased levels of progesterone during estrus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 96,151,287 (GRCm39) |
D18G |
probably damaging |
Het |
| Cpne3 |
T |
C |
4: 19,543,318 (GRCm39) |
D160G |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,402,942 (GRCm39) |
*784W |
probably null |
Het |
| Fam53b |
T |
C |
7: 132,317,511 (GRCm39) |
E377G |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,052,096 (GRCm39) |
V125A |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,705,445 (GRCm39) |
E1192G |
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,536,102 (GRCm39) |
E372G |
probably damaging |
Het |
| Kif2c |
C |
T |
4: 117,029,562 (GRCm39) |
V140M |
probably damaging |
Het |
| Klre1 |
T |
C |
6: 129,561,133 (GRCm39) |
F165L |
possibly damaging |
Het |
| Kmt2a |
C |
T |
9: 44,732,467 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,329,583 (GRCm39) |
C1728Y |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,753,901 (GRCm38) |
T1259N |
possibly damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,462 (GRCm39) |
D233G |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,349,933 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,110,142 (GRCm39) |
K1750E |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,103 (GRCm39) |
D163G |
probably benign |
Het |
| Parp4 |
C |
A |
14: 56,823,217 (GRCm39) |
|
probably benign |
Het |
| Rhox3c |
G |
A |
X: 36,651,982 (GRCm39) |
R71K |
probably damaging |
Het |
| Rufy1 |
A |
G |
11: 50,282,850 (GRCm39) |
L638P |
probably damaging |
Het |
| Slc15a3 |
G |
A |
19: 10,834,986 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,683,280 (GRCm39) |
|
probably null |
Het |
| Slc6a13 |
A |
G |
6: 121,298,600 (GRCm39) |
Y150C |
probably damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,989,008 (GRCm39) |
L233Q |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,365,248 (GRCm39) |
I287N |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,471,335 (GRCm39) |
N1778S |
probably benign |
Het |
| Vmn1r212 |
T |
C |
13: 23,067,329 (GRCm39) |
N335D |
unknown |
Het |
| Wdfy1 |
C |
T |
1: 79,691,589 (GRCm39) |
V273I |
probably benign |
Het |
|
| Other mutations in Rbms1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00813:Rbms1
|
APN |
2 |
60,628,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02565:Rbms1
|
APN |
2 |
60,590,123 (GRCm39) |
missense |
probably benign |
|
|
IGL02662:Rbms1
|
APN |
2 |
60,592,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU74:Rbms1
|
UTSW |
2 |
60,628,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Rbms1
|
UTSW |
2 |
60,589,179 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0279:Rbms1
|
UTSW |
2 |
60,672,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0718:Rbms1
|
UTSW |
2 |
60,672,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1582:Rbms1
|
UTSW |
2 |
60,589,179 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2151:Rbms1
|
UTSW |
2 |
60,592,392 (GRCm39) |
splice site |
probably null |
|
|
R4812:Rbms1
|
UTSW |
2 |
60,623,113 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5109:Rbms1
|
UTSW |
2 |
60,612,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Rbms1
|
UTSW |
2 |
60,592,648 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7513:Rbms1
|
UTSW |
2 |
60,589,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Rbms1
|
UTSW |
2 |
60,793,083 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8542:Rbms1
|
UTSW |
2 |
60,612,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Rbms1
|
UTSW |
2 |
60,610,087 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation