Incidental Mutation 'R0864:Rbms3'
| ID |
82258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbms3
|
| Ensembl Gene |
ENSMUSG00000039607 |
| Gene Name |
RNA binding motif, single stranded interacting protein |
| Synonyms |
6720477E09Rik, 8430436O14Rik |
| MMRRC Submission |
039038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R0864 (G1)
|
| Quality Score |
149 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
116401814-117701749 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 117458860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164018]
|
| AlphaFold |
Q8BWL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164018
|
| SMART Domains |
Protein: ENSMUSP00000131371
Gene: ENSMUSG00000039607
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
98 |
N/A |
INTRINSIC |
|
RRM
|
106 |
174 |
1.2e-17 |
SMART |
|
RRM
|
185 |
257 |
1.49e-13 |
SMART |
|
low complexity region
|
433 |
443 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.1%
- 10x: 97.3%
- 20x: 93.8%
|
| Validation Efficiency |
93% (39/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. 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. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,784,798 (GRCm39) |
|
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,473,200 (GRCm39) |
Y66C |
probably damaging |
Het |
| Apol7e |
T |
A |
15: 77,601,993 (GRCm39) |
V197E |
probably damaging |
Het |
| Chac1 |
C |
A |
2: 119,183,950 (GRCm39) |
A184E |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,756,274 (GRCm39) |
T192I |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,240,040 (GRCm39) |
Y1124F |
probably damaging |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
G |
A |
2: 104,060,773 (GRCm39) |
P1374S |
possibly damaging |
Het |
| Dyrk4 |
T |
C |
6: 126,854,296 (GRCm39) |
E499G |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,471,074 (GRCm39) |
I1603N |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,184,811 (GRCm39) |
C1660* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Hpn |
T |
C |
7: 30,808,426 (GRCm39) |
I41V |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Map4 |
A |
G |
9: 109,808,037 (GRCm39) |
Y34C |
probably damaging |
Het |
| Mapk8 |
C |
T |
14: 33,114,949 (GRCm39) |
R189H |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,649,587 (GRCm39) |
V1097A |
probably benign |
Het |
| Msh2 |
A |
G |
17: 87,987,480 (GRCm39) |
T207A |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,570,820 (GRCm39) |
S627G |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,457,263 (GRCm39) |
T2266I |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,503,578 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
A |
G |
11: 94,918,759 (GRCm39) |
Y339H |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,632,823 (GRCm39) |
D583G |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,410,966 (GRCm39) |
M1022L |
probably benign |
Het |
| Pmpca |
G |
A |
2: 26,283,221 (GRCm39) |
|
probably null |
Het |
| Rbbp4 |
G |
T |
4: 129,214,344 (GRCm39) |
|
probably benign |
Het |
| Rbbp8 |
G |
A |
18: 11,865,241 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,266,049 (GRCm39) |
S726T |
possibly damaging |
Het |
| Supt4a |
T |
A |
11: 87,633,913 (GRCm39) |
S88T |
probably benign |
Het |
| Tmem245 |
G |
T |
4: 56,890,837 (GRCm39) |
H321Q |
probably damaging |
Het |
| Trim43c |
A |
T |
9: 88,725,087 (GRCm39) |
H202L |
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,721,730 (GRCm39) |
F1334S |
probably damaging |
Het |
| Vmn1r36 |
T |
C |
6: 66,693,840 (GRCm39) |
T12A |
probably null |
Het |
| Ywhae |
T |
G |
11: 75,650,256 (GRCm39) |
|
probably null |
Het |
| Zc3h4 |
T |
A |
7: 16,154,104 (GRCm39) |
S131T |
probably damaging |
Het |
| Zfp280b |
C |
T |
10: 75,874,139 (GRCm39) |
T6M |
probably benign |
Het |
|
| Other mutations in Rbms3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00917:Rbms3
|
APN |
9 |
116,939,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01859:Rbms3
|
APN |
9 |
116,788,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01962:Rbms3
|
APN |
9 |
116,524,879 (GRCm39) |
splice site |
probably benign |
|
|
IGL03034:Rbms3
|
APN |
9 |
117,080,879 (GRCm39) |
utr 5 prime |
probably benign |
|
|
PIT4810001:Rbms3
|
UTSW |
9 |
116,885,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0862:Rbms3
|
UTSW |
9 |
117,458,860 (GRCm39) |
splice site |
probably benign |
|
|
R0939:Rbms3
|
UTSW |
9 |
116,939,028 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1796:Rbms3
|
UTSW |
9 |
116,548,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1808:Rbms3
|
UTSW |
9 |
116,651,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Rbms3
|
UTSW |
9 |
116,651,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2213:Rbms3
|
UTSW |
9 |
116,788,534 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3719:Rbms3
|
UTSW |
9 |
116,411,930 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3935:Rbms3
|
UTSW |
9 |
116,465,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4270:Rbms3
|
UTSW |
9 |
116,885,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Rbms3
|
UTSW |
9 |
116,773,441 (GRCm39) |
intron |
probably benign |
|
|
R4943:Rbms3
|
UTSW |
9 |
116,507,573 (GRCm39) |
intron |
probably benign |
|
|
R5445:Rbms3
|
UTSW |
9 |
117,080,853 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5997:Rbms3
|
UTSW |
9 |
116,548,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Rbms3
|
UTSW |
9 |
117,080,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Rbms3
|
UTSW |
9 |
116,939,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7205:Rbms3
|
UTSW |
9 |
116,415,085 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7419:Rbms3
|
UTSW |
9 |
116,651,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8267:Rbms3
|
UTSW |
9 |
116,885,823 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8984:Rbms3
|
UTSW |
9 |
116,524,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCGGTCACACTGAGGCATAAAC -3'
(R):5'- CGTTGTTACTCTGTTGCAGGCAAG -3'
Sequencing Primer
(F):5'- TGGAATTTAAACTCTGACACGC -3'
(R):5'- TGTTGCAGGCAAGTAGCCC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation