Incidental Mutation 'R1348:Rbm15'
| ID |
156554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm15
|
| Ensembl Gene |
ENSMUSG00000048109 |
| Gene Name |
RNA binding motif protein 15 |
| Synonyms |
C230088J01Rik |
| MMRRC Submission |
039413-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1348 (G1)
|
| Quality Score |
181 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
107232737-107240989 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 107239946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 151
(R151S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061772]
|
| AlphaFold |
Q0VBL3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061772
AA Change: R151S
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000054424
Gene: ENSMUSG00000048109
AA Change: R151S
| 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
|
| Meta Mutation Damage Score |
0.0616 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.2%
- 20x: 87.2%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,593,212 (GRCm39) |
|
probably null |
Het |
| Art1 |
G |
A |
7: 101,756,579 (GRCm39) |
A33T |
possibly damaging |
Het |
| Aspa |
G |
A |
11: 73,215,309 (GRCm39) |
T2I |
probably damaging |
Het |
| Cntn1 |
C |
T |
15: 92,212,544 (GRCm39) |
T902I |
probably damaging |
Het |
| Dpep1 |
G |
A |
8: 123,925,899 (GRCm39) |
C118Y |
probably benign |
Het |
| Garin1a |
A |
G |
6: 29,283,284 (GRCm39) |
H36R |
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,211,338 (GRCm39) |
V631I |
possibly damaging |
Het |
| Igf1r |
C |
G |
7: 67,868,216 (GRCm39) |
N1220K |
probably damaging |
Het |
| Insr |
A |
T |
8: 3,242,635 (GRCm39) |
I28N |
probably damaging |
Het |
| Katnal2 |
T |
C |
18: 77,066,238 (GRCm39) |
|
probably null |
Het |
| Klrb1a |
T |
C |
6: 128,586,797 (GRCm39) |
D156G |
possibly damaging |
Het |
| Kpna6 |
G |
A |
4: 129,555,152 (GRCm39) |
R26* |
probably null |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Naa15 |
C |
G |
3: 51,373,091 (GRCm39) |
C661W |
probably damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,124 (GRCm39) |
I6T |
probably benign |
Het |
| Or1e1 |
G |
T |
11: 73,244,682 (GRCm39) |
M34I |
probably benign |
Het |
| Or8g20 |
A |
G |
9: 39,396,532 (GRCm39) |
S3P |
probably benign |
Het |
| Paxbp1 |
A |
G |
16: 90,831,904 (GRCm39) |
V328A |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,784,806 (GRCm39) |
T1993A |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,184,106 (GRCm39) |
V865I |
probably benign |
Het |
| Racgap1 |
A |
G |
15: 99,524,246 (GRCm39) |
I387T |
possibly damaging |
Het |
| Rbms2 |
C |
T |
10: 128,012,214 (GRCm39) |
|
probably null |
Het |
| Recql4 |
A |
G |
15: 76,593,411 (GRCm39) |
I140T |
probably benign |
Het |
| Shld2 |
T |
A |
14: 33,990,880 (GRCm39) |
I9F |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,911,708 (GRCm39) |
|
probably null |
Het |
| Speg |
G |
A |
1: 75,399,516 (GRCm39) |
G2321D |
probably damaging |
Het |
| Trp53tg5 |
A |
G |
2: 164,315,521 (GRCm39) |
|
probably null |
Het |
| Tyw3 |
A |
C |
3: 154,299,451 (GRCm39) |
M86R |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Zfp472 |
T |
A |
17: 33,196,794 (GRCm39) |
F290I |
probably benign |
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 |
|
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 |
|
R1377:Rbm15
|
UTSW |
3 |
107,238,074 (GRCm39) |
missense |
probably benign |
|
|
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'- GATTTTGACACTTACATCACCGAAGCG -3'
(R):5'- ACCAATGAGGTACTGGGATTAGGGC -3'
Sequencing Primer
(F):5'- GCTGATCTTCAGGGTCTTGTACTC -3'
(R):5'- TAATTGACCAATGAGGTCTGCG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation