Incidental Mutation 'R3719:Rbms3'
| ID |
258824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbms3
|
| Ensembl Gene |
ENSMUSG00000039607 |
| Gene Name |
RNA binding motif, single stranded interacting protein |
| Synonyms |
6720477E09Rik, 8430436O14Rik |
| MMRRC Submission |
042001-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R3719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
116401814-117701749 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 116411930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 421
(V421I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044901]
[ENSMUST00000068962]
[ENSMUST00000111772]
[ENSMUST00000111773]
[ENSMUST00000164018]
[ENSMUST00000173429]
[ENSMUST00000174868]
|
| AlphaFold |
Q8BWL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044901
|
| SMART Domains |
Protein: ENSMUSP00000039706
Gene: ENSMUSG00000039607
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
49 |
N/A |
INTRINSIC |
|
RRM
|
57 |
125 |
1.2e-17 |
SMART |
|
RRM
|
136 |
208 |
1.49e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068962
AA Change: V372I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000066735
Gene: ENSMUSG00000039607
AA Change: V372I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
49 |
N/A |
INTRINSIC |
|
RRM
|
57 |
125 |
1.2e-17 |
SMART |
|
RRM
|
136 |
208 |
1.49e-13 |
SMART |
|
low complexity region
|
384 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111772
AA Change: V373I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000107402
Gene: ENSMUSG00000039607
AA Change: V373I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
49 |
N/A |
INTRINSIC |
|
RRM
|
57 |
125 |
1.2e-17 |
SMART |
|
RRM
|
136 |
208 |
1.49e-13 |
SMART |
|
low complexity region
|
385 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111773
AA Change: V389I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000107403
Gene: ENSMUSG00000039607
AA Change: V389I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
49 |
N/A |
INTRINSIC |
|
RRM
|
57 |
125 |
1.2e-17 |
SMART |
|
RRM
|
136 |
208 |
1.49e-13 |
SMART |
|
low complexity region
|
401 |
411 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164018
AA Change: V421I
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000131371
Gene: ENSMUSG00000039607
AA Change: V421I
| 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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000172469
AA Change: V182I
|
| SMART Domains |
Protein: ENSMUSP00000134172
Gene: ENSMUSG00000039607
AA Change: V182I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_1
|
1 |
50 |
9.8e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173429
|
| SMART Domains |
Protein: ENSMUSP00000133900
Gene: ENSMUSG00000039607
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM
|
1 |
50 |
2e-29 |
BLAST |
|
PDB:1X5O|A
|
1 |
60 |
3e-31 |
PDB |
|
SCOP:d1h6kx_
|
1 |
62 |
4e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174868
|
| SMART Domains |
Protein: ENSMUSP00000133621
Gene: ENSMUSG00000039607
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
49 |
N/A |
INTRINSIC |
|
RRM
|
57 |
125 |
1.2e-17 |
SMART |
|
RRM
|
136 |
208 |
1.49e-13 |
SMART |
|
| Meta Mutation Damage Score |
0.1044 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
97% (35/36) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
A |
15: 94,259,719 (GRCm39) |
R327C |
probably damaging |
Het |
| Atxn2l |
G |
A |
7: 126,097,302 (GRCm39) |
R335W |
probably damaging |
Het |
| Blk |
A |
G |
14: 63,621,451 (GRCm39) |
S93P |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,711,343 (GRCm39) |
D75G |
probably damaging |
Het |
| Chpf2 |
C |
T |
5: 24,795,310 (GRCm39) |
Q278* |
probably null |
Het |
| Cypt14-ps |
C |
T |
X: 38,952,128 (GRCm39) |
G52E |
probably damaging |
Het |
| Defb18 |
A |
G |
1: 18,306,813 (GRCm39) |
S48P |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,006,882 (GRCm39) |
|
probably benign |
Het |
| Ero1b |
T |
G |
13: 12,598,493 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
C |
5: 115,717,876 (GRCm39) |
S254P |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Kdm3b |
C |
T |
18: 34,941,724 (GRCm39) |
A405V |
probably damaging |
Het |
| Mcm7 |
G |
A |
5: 138,164,976 (GRCm39) |
Q550* |
probably null |
Het |
| Or9m1 |
G |
A |
2: 87,733,447 (GRCm39) |
T191I |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 58,286,374 (GRCm39) |
E1150G |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,279,288 (GRCm39) |
Y756C |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,571,175 (GRCm39) |
T187A |
probably benign |
Het |
| Selenbp2 |
T |
C |
3: 94,606,924 (GRCm39) |
F190S |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,382,144 (GRCm39) |
T801M |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Spen |
G |
T |
4: 141,244,494 (GRCm39) |
H180Q |
unknown |
Het |
| Tenm4 |
A |
G |
7: 96,512,770 (GRCm39) |
K1339R |
possibly damaging |
Het |
| Trim30a |
C |
A |
7: 104,060,370 (GRCm39) |
D469Y |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,964,354 (GRCm39) |
R1283H |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,749,757 (GRCm39) |
R29* |
probably null |
Het |
| Ttc17 |
A |
G |
2: 94,194,672 (GRCm39) |
V567A |
probably benign |
Het |
| Vmn2r101 |
A |
G |
17: 19,809,811 (GRCm39) |
Y199C |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,582 (GRCm39) |
Y459N |
probably damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,245 (GRCm39) |
I215V |
probably benign |
Het |
| Wdr48 |
C |
T |
9: 119,736,197 (GRCm39) |
S162F |
probably damaging |
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 |
|
|
R0864: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 |
|
|
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'- AAACACTCTGAGAAAAGGACTTCTG -3'
(R):5'- GAGGGCAGAGCTTACTGTTG -3'
Sequencing Primer
(F):5'- GAGAAAAGGACTTCTGTATCTCTGC -3'
(R):5'- GCAGAGCTTACTGTTGTTTCATC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation