Incidental Mutation 'R1347:Rbm15'
| ID |
186158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm15
|
| Ensembl Gene |
ENSMUSG00000048109 |
| Gene Name |
RNA binding motif protein 15 |
| Synonyms |
C230088J01Rik |
| MMRRC Submission |
039412-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1347 (G1)
|
| Quality Score |
170 |
|
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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Arpc1a |
G |
T |
5: 145,034,082 (GRCm39) |
W150L |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,350 (GRCm39) |
D646G |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,589,070 (GRCm39) |
H383Q |
probably damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,011 (GRCm39) |
T117A |
probably benign |
Het |
| Fry |
A |
T |
5: 150,419,283 (GRCm39) |
E905V |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
| Glyr1 |
T |
C |
16: 4,839,203 (GRCm39) |
D338G |
probably damaging |
Het |
| Gpd2 |
A |
T |
2: 57,247,683 (GRCm39) |
K542M |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,330,535 (GRCm39) |
F1679L |
probably benign |
Het |
| Kif23 |
A |
G |
9: 61,834,438 (GRCm39) |
M427T |
probably damaging |
Het |
| Kpna1 |
T |
A |
16: 35,829,696 (GRCm39) |
I83N |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,019,445 (GRCm39) |
F770L |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,755,669 (GRCm39) |
F92I |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,135,567 (GRCm39) |
|
probably benign |
Het |
| Or2a56 |
A |
C |
6: 42,932,639 (GRCm39) |
D69A |
probably damaging |
Het |
| Or5b105 |
T |
C |
19: 13,080,054 (GRCm39) |
I199V |
probably benign |
Het |
| Rims3 |
G |
A |
4: 120,740,322 (GRCm39) |
G90S |
probably damaging |
Het |
| Rock2 |
G |
A |
12: 17,027,625 (GRCm39) |
C1314Y |
possibly damaging |
Het |
| Serpinb6e |
C |
T |
13: 34,025,180 (GRCm39) |
C37Y |
possibly damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,183,202 (GRCm39) |
T248I |
probably benign |
Het |
| Tbx15 |
C |
A |
3: 99,259,427 (GRCm39) |
Q433K |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,527,330 (GRCm39) |
|
probably benign |
Het |
| Zim1 |
C |
A |
7: 6,680,430 (GRCm39) |
C411F |
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 |
|
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 |
|
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'- AACCTGAGAGGTGACTGATTTTGACAC -3'
(R):5'- CGTTGGGAACCCAATAACAGCGTC -3'
Sequencing Primer
(F):5'- GACTGATTTTGACACTTACATCACCG -3'
(R):5'- TAATTGACCAATGAGGTCTGCG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation