Incidental Mutation 'R1377:Rbm15'
| ID |
162904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm15
|
| Ensembl Gene |
ENSMUSG00000048109 |
| Gene Name |
RNA binding motif protein 15 |
| Synonyms |
C230088J01Rik |
| MMRRC Submission |
039441-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1377 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
107232737-107240989 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107238074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 775
(T775A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061772]
|
| AlphaFold |
Q0VBL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061772
AA Change: T775A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000054424
Gene: ENSMUSG00000048109
AA Change: T775A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
163 |
N/A |
INTRINSIC |
|
RRM
|
170 |
247 |
7.49e-5 |
SMART |
|
low complexity region
|
268 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
330 |
N/A |
INTRINSIC |
|
RRM
|
374 |
446 |
1.33e-10 |
SMART |
|
RRM
|
455 |
524 |
2.51e-6 |
SMART |
|
low complexity region
|
532 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
606 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
613 |
685 |
7.13e-5 |
PROSPERO |
|
internal_repeat_2
|
677 |
753 |
7.13e-5 |
PROSPERO |
|
low complexity region
|
754 |
771 |
N/A |
INTRINSIC |
|
Pfam:SPOC
|
789 |
925 |
1.7e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197769
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality around E9.5. Mice homozygous for a floxed allele activate in hematopoietic cells exhibit increased megakaryocyte cell number, long-term hematopoietic stem cells, and red pulp as well as decreased B cells and leukocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,934,869 (GRCm39) |
V363A |
probably damaging |
Het |
| Arc |
G |
A |
15: 74,544,101 (GRCm39) |
H41Y |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,501,801 (GRCm39) |
A854V |
probably benign |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,059,596 (GRCm39) |
K4399* |
probably null |
Het |
| Dscam |
A |
G |
16: 96,573,694 (GRCm39) |
V756A |
probably damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,395,104 (GRCm39) |
E574V |
probably damaging |
Het |
| Fbxo46 |
T |
A |
7: 18,870,350 (GRCm39) |
V323E |
probably damaging |
Het |
| Gria1 |
C |
A |
11: 57,092,002 (GRCm39) |
N163K |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,545,202 (GRCm39) |
I133M |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,921,089 (GRCm39) |
L750Q |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,462,022 (GRCm39) |
R1195Q |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,716 (GRCm39) |
E207G |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,397,345 (GRCm39) |
I329N |
probably damaging |
Het |
| Stoml3 |
G |
A |
3: 53,415,062 (GRCm39) |
A285T |
probably benign |
Het |
| Trhr2 |
C |
T |
8: 123,087,327 (GRCm39) |
V38M |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,101,123 (GRCm39) |
L25P |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,021,694 (GRCm39) |
M748K |
unknown |
Het |
| Zfp454 |
T |
C |
11: 50,764,607 (GRCm39) |
Y164C |
probably damaging |
Het |
| Zfp804a |
T |
C |
2: 82,088,841 (GRCm39) |
V890A |
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
probably damaging |
Het |
|
| Other mutations in Rbm15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01370:Rbm15
|
APN |
3 |
107,238,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01933:Rbm15
|
APN |
3 |
107,238,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02116:Rbm15
|
APN |
3 |
107,237,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02886:Rbm15
|
APN |
3 |
107,233,611 (GRCm39) |
missense |
probably benign |
0.41 |
|
Dare
|
UTSW |
3 |
107,239,627 (GRCm39) |
missense |
probably benign |
0.07 |
|
Goad
|
UTSW |
3 |
107,238,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Rbm15
|
UTSW |
3 |
107,238,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0374:Rbm15
|
UTSW |
3 |
107,237,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0376:Rbm15
|
UTSW |
3 |
107,238,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0501:Rbm15
|
UTSW |
3 |
107,239,846 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0517:Rbm15
|
UTSW |
3 |
107,238,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1347:Rbm15
|
UTSW |
3 |
107,239,946 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1347:Rbm15
|
UTSW |
3 |
107,239,946 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1348:Rbm15
|
UTSW |
3 |
107,239,946 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1372:Rbm15
|
UTSW |
3 |
107,239,946 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1373:Rbm15
|
UTSW |
3 |
107,239,946 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1616:Rbm15
|
UTSW |
3 |
107,238,197 (GRCm39) |
missense |
probably benign |
|
|
R1708:Rbm15
|
UTSW |
3 |
107,238,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Rbm15
|
UTSW |
3 |
107,238,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2519:Rbm15
|
UTSW |
3 |
107,238,149 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3432:Rbm15
|
UTSW |
3 |
107,237,993 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4885:Rbm15
|
UTSW |
3 |
107,239,570 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5434:Rbm15
|
UTSW |
3 |
107,237,783 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6915:Rbm15
|
UTSW |
3 |
107,239,627 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7336:Rbm15
|
UTSW |
3 |
107,240,432 (GRCm39) |
start gained |
probably benign |
|
|
R7799:Rbm15
|
UTSW |
3 |
107,239,459 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8115:Rbm15
|
UTSW |
3 |
107,238,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8840:Rbm15
|
UTSW |
3 |
107,240,305 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8943:Rbm15
|
UTSW |
3 |
107,239,372 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9090:Rbm15
|
UTSW |
3 |
107,239,312 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9271:Rbm15
|
UTSW |
3 |
107,239,312 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9381:Rbm15
|
UTSW |
3 |
107,238,752 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGAGCCCTCCACAAGTAGACTG -3'
(R):5'- AACAGCGTCACTGCACTCCTTC -3'
Sequencing Primer
(F):5'- CTGCCAAGCCAAACAGAGTT -3'
(R):5'- AGGTCTTCCCCAGTCAGAGATAG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation