Incidental Mutation 'IGL02886:Rbm15'
ID |
363002 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rbm15
|
Ensembl Gene |
ENSMUSG00000048109 |
Gene Name |
RNA binding motif protein 15 |
Synonyms |
C230088J01Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02886
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
107232737-107240989 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 107233611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 959
(V959G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054424
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061772]
|
AlphaFold |
Q0VBL3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061772
AA Change: V959G
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000054424 Gene: ENSMUSG00000048109 AA Change: V959G
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 |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,921,863 (GRCm39) |
C1140S |
probably damaging |
Het |
Abhd12b |
T |
C |
12: 70,229,740 (GRCm39) |
I238T |
possibly damaging |
Het |
Adgrb3 |
T |
C |
1: 25,543,991 (GRCm39) |
|
probably null |
Het |
Baz2b |
A |
T |
2: 59,788,087 (GRCm39) |
|
probably null |
Het |
Brwd3 |
T |
C |
X: 107,794,454 (GRCm39) |
Y1410C |
probably damaging |
Het |
Casp7 |
T |
A |
19: 56,421,775 (GRCm39) |
I71N |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,804,672 (GRCm39) |
I1828F |
probably damaging |
Het |
Cul2 |
T |
C |
18: 3,426,920 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,986,700 (GRCm39) |
D5409G |
possibly damaging |
Het |
Fam187a |
A |
T |
11: 102,777,380 (GRCm39) |
T395S |
probably benign |
Het |
Fcgr2b |
A |
G |
1: 170,793,297 (GRCm39) |
V244A |
possibly damaging |
Het |
Fubp1 |
A |
G |
3: 151,926,392 (GRCm39) |
E333G |
possibly damaging |
Het |
Ganab |
G |
T |
19: 8,888,391 (GRCm39) |
|
probably benign |
Het |
Hpdl |
A |
G |
4: 116,677,952 (GRCm39) |
S170P |
probably benign |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Klhl11 |
T |
C |
11: 100,363,047 (GRCm39) |
S170G |
possibly damaging |
Het |
Lrrc56 |
A |
G |
7: 140,777,090 (GRCm39) |
|
probably benign |
Het |
Lrrd1 |
T |
C |
5: 3,901,534 (GRCm39) |
V613A |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,276,055 (GRCm39) |
F757L |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,059,169 (GRCm39) |
|
probably benign |
Het |
Myocd |
T |
A |
11: 65,069,569 (GRCm39) |
D837V |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,436,984 (GRCm39) |
Q513R |
possibly damaging |
Het |
Nol4l |
A |
G |
2: 153,371,457 (GRCm39) |
F76L |
probably benign |
Het |
Or10ak7 |
T |
C |
4: 118,792,027 (GRCm39) |
E6G |
probably benign |
Het |
Or2b2b |
T |
A |
13: 21,859,122 (GRCm39) |
|
probably benign |
Het |
Or5b98 |
T |
A |
19: 12,931,882 (GRCm39) |
S310T |
probably benign |
Het |
Pck1 |
G |
A |
2: 172,996,649 (GRCm39) |
E188K |
probably benign |
Het |
Pdcd11 |
T |
C |
19: 47,102,064 (GRCm39) |
V1083A |
possibly damaging |
Het |
Primpol |
G |
A |
8: 47,046,619 (GRCm39) |
Q226* |
probably null |
Het |
Rorb |
A |
G |
19: 18,954,943 (GRCm39) |
|
probably null |
Het |
Spata9 |
T |
C |
13: 76,125,853 (GRCm39) |
L112P |
probably damaging |
Het |
Stk24 |
A |
T |
14: 121,529,527 (GRCm39) |
L375Q |
probably null |
Het |
Svip |
A |
G |
7: 51,655,509 (GRCm39) |
S11P |
possibly damaging |
Het |
Taf13 |
T |
C |
3: 108,488,500 (GRCm39) |
|
probably benign |
Het |
Tex30 |
T |
C |
1: 44,127,683 (GRCm39) |
Y7C |
probably damaging |
Het |
Tmem68 |
T |
C |
4: 3,569,361 (GRCm39) |
|
probably benign |
Het |
Tnc |
T |
C |
4: 63,918,344 (GRCm39) |
E1189G |
probably damaging |
Het |
Top2b |
T |
C |
14: 16,365,688 (GRCm38) |
S4P |
possibly damaging |
Het |
Trav3-3 |
C |
A |
14: 53,903,822 (GRCm39) |
L47I |
probably benign |
Het |
Ttn |
G |
A |
2: 76,733,557 (GRCm39) |
|
probably benign |
Het |
Uroc1 |
A |
G |
6: 90,323,811 (GRCm39) |
|
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 |
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 |
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 |
|
|
Posted On |
2015-12-18 |