Incidental Mutation 'R1373:Rbm15'
ID |
157397 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm15
|
Ensembl Gene |
ENSMUSG00000048109 |
Gene Name |
RNA binding motif protein 15 |
Synonyms |
C230088J01Rik |
MMRRC Submission |
039437-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1373 (G1)
|
Quality Score |
162 |
Status
|
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: 99.3%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.2%
|
Validation Efficiency |
94% (34/36) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
G |
A |
14: 68,808,400 (GRCm39) |
R317C |
probably damaging |
Het |
Adgrl1 |
T |
C |
8: 84,664,392 (GRCm39) |
V1261A |
probably benign |
Het |
Btla |
G |
A |
16: 45,044,783 (GRCm39) |
G23D |
probably benign |
Het |
Card19 |
T |
C |
13: 49,357,440 (GRCm39) |
D110G |
probably damaging |
Het |
Cbx7 |
C |
T |
15: 79,803,074 (GRCm39) |
G160R |
probably damaging |
Het |
Ccng2 |
C |
T |
5: 93,418,914 (GRCm39) |
|
probably benign |
Het |
Col4a3 |
G |
A |
1: 82,667,808 (GRCm39) |
|
probably benign |
Het |
Colgalt2 |
A |
G |
1: 152,348,912 (GRCm39) |
T186A |
probably damaging |
Het |
Cps1 |
A |
G |
1: 67,268,583 (GRCm39) |
N1437S |
possibly damaging |
Het |
Dcaf1 |
A |
G |
9: 106,735,079 (GRCm39) |
I676V |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,314,064 (GRCm39) |
|
probably benign |
Het |
Dock1 |
T |
C |
7: 134,768,904 (GRCm39) |
S1758P |
probably benign |
Het |
Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
Ice2 |
G |
A |
9: 69,314,401 (GRCm39) |
R50H |
probably benign |
Het |
Ifi207 |
T |
A |
1: 173,557,913 (GRCm39) |
D275V |
unknown |
Het |
Nrxn2 |
C |
T |
19: 6,522,331 (GRCm39) |
T190M |
probably damaging |
Het |
Odad4 |
T |
C |
11: 100,436,658 (GRCm39) |
F11S |
probably damaging |
Het |
Or14j8 |
T |
C |
17: 38,263,251 (GRCm39) |
I221M |
probably damaging |
Het |
Or2ag17 |
C |
T |
7: 106,389,963 (GRCm39) |
V82I |
probably benign |
Het |
Pcnx3 |
A |
G |
19: 5,715,544 (GRCm39) |
L1494P |
probably damaging |
Het |
Pitrm1 |
G |
T |
13: 6,620,736 (GRCm39) |
M739I |
probably benign |
Het |
Sfr1 |
C |
G |
19: 47,723,355 (GRCm39) |
D286E |
possibly damaging |
Het |
Slx4 |
A |
G |
16: 3,803,374 (GRCm39) |
S1147P |
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,864 (GRCm39) |
Q265H |
unknown |
Het |
Tgfbr3 |
T |
C |
5: 107,362,809 (GRCm39) |
I68V |
probably benign |
Het |
Tpmt |
A |
C |
13: 47,180,734 (GRCm39) |
|
probably null |
Het |
Trpm5 |
A |
G |
7: 142,640,579 (GRCm39) |
|
probably benign |
Het |
Txlnb |
A |
G |
10: 17,714,695 (GRCm39) |
T376A |
probably damaging |
Het |
Usp25 |
T |
C |
16: 76,859,273 (GRCm39) |
|
probably benign |
Het |
Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
Vps13c |
A |
T |
9: 67,834,793 (GRCm39) |
K1707N |
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 |
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 |
2014-02-18 |