Incidental Mutation 'IGL02585:Rbm15b'
| ID |
299507 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm15b
|
| Ensembl Gene |
ENSMUSG00000074102 |
| Gene Name |
RNA binding motif protein 15B |
| Synonyms |
1810017N16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.494)
|
| Stock # |
IGL02585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
106758127-106764274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106763025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 381
(Q381R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055843]
[ENSMUST00000069036]
[ENSMUST00000159283]
[ENSMUST00000161758]
|
| AlphaFold |
Q6PHZ5 |
| PDB Structure |
Solution structure of the RNA recognition motif from hypothetical RNA binding protein BC052180 [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055843
AA Change: Q381R
PolyPhen 2
Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000059330
Gene: ENSMUSG00000074102
AA Change: Q381R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
133 |
N/A |
INTRINSIC |
|
RRM
|
137 |
212 |
2.47e-2 |
SMART |
|
low complexity region
|
216 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
299 |
N/A |
INTRINSIC |
|
RRM
|
334 |
406 |
2.03e-15 |
SMART |
|
RRM
|
415 |
484 |
3.57e-11 |
SMART |
|
low complexity region
|
653 |
675 |
N/A |
INTRINSIC |
|
Pfam:SPOC
|
719 |
854 |
1.7e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069036
|
| SMART Domains |
Protein: ENSMUSP00000066534
Gene: ENSMUSG00000032575
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Armet
|
13 |
165 |
3.2e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159283
|
| SMART Domains |
Protein: ENSMUSP00000124562
Gene: ENSMUSG00000032575
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Armet
|
26 |
171 |
9.1e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159620
|
| SMART Domains |
Protein: ENSMUSP00000123907
Gene: ENSMUSG00000032575
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Armet
|
18 |
120 |
1.7e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160503
|
| SMART Domains |
Protein: ENSMUSP00000124453
Gene: ENSMUSG00000032575
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Armet
|
17 |
118 |
1.6e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160978
|
| SMART Domains |
Protein: ENSMUSP00000124791
Gene: ENSMUSG00000032575
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Armet
|
26 |
124 |
1.6e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161272
|
| SMART Domains |
Protein: ENSMUSP00000125424
Gene: ENSMUSG00000032575
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Armet
|
1 |
51 |
2.5e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162801
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161758
|
| SMART Domains |
Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
175 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
605 |
N/A |
INTRINSIC |
|
LisH
|
845 |
877 |
1.77e-3 |
SMART |
|
low complexity region
|
920 |
945 |
N/A |
INTRINSIC |
|
PDB:4PXW|B
|
1038 |
1398 |
N/A |
PDB |
|
SCOP:d1tbga_
|
1063 |
1308 |
3e-19 |
SMART |
|
Blast:WD40
|
1078 |
1120 |
3e-22 |
BLAST |
|
Blast:WD40
|
1123 |
1164 |
7e-19 |
BLAST |
|
low complexity region
|
1399 |
1458 |
N/A |
INTRINSIC |
|
low complexity region
|
1463 |
1489 |
N/A |
INTRINSIC |
|
PDB:4P7I|D
|
1490 |
1512 |
2e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185707
|
| 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 RBM15B, 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,592,121 (GRCm39) |
I603T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,855 (GRCm39) |
|
probably null |
Het |
| Atp5me |
T |
C |
5: 108,581,936 (GRCm39) |
Y16C |
probably damaging |
Het |
| Ccdc122 |
A |
T |
14: 77,330,202 (GRCm39) |
|
probably benign |
Het |
| Ccdc83 |
C |
T |
7: 89,886,120 (GRCm39) |
R213Q |
probably damaging |
Het |
| Cd38 |
G |
A |
5: 44,067,644 (GRCm39) |
V292M |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,472,212 (GRCm39) |
S26P |
probably damaging |
Het |
| Gdpd1 |
A |
T |
11: 86,964,802 (GRCm39) |
M1K |
probably null |
Het |
| Inmt |
T |
A |
6: 55,150,431 (GRCm39) |
I69F |
probably damaging |
Het |
| Lrrc19 |
A |
T |
4: 94,531,562 (GRCm39) |
S17T |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,366,077 (GRCm39) |
Q1330K |
probably benign |
Het |
| Map4k3 |
C |
A |
17: 80,961,348 (GRCm39) |
|
probably benign |
Het |
| Musk |
A |
G |
4: 58,347,849 (GRCm39) |
T329A |
probably benign |
Het |
| Nhs |
T |
C |
X: 160,624,760 (GRCm39) |
E863G |
probably damaging |
Het |
| Nts |
T |
A |
10: 102,318,329 (GRCm39) |
I125F |
probably benign |
Het |
| Odr4 |
T |
A |
1: 150,239,272 (GRCm39) |
T384S |
probably damaging |
Het |
| Phip |
G |
A |
9: 82,785,241 (GRCm39) |
L825F |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,986,828 (GRCm39) |
H889R |
possibly damaging |
Het |
| Rtn1 |
C |
A |
12: 72,354,929 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,542,648 (GRCm39) |
L3167P |
probably damaging |
Het |
| Scfd1 |
G |
A |
12: 51,433,890 (GRCm39) |
E61K |
probably damaging |
Het |
| Sgce |
A |
G |
6: 4,711,388 (GRCm39) |
|
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,275,097 (GRCm39) |
V52E |
probably benign |
Het |
| Slc38a11 |
T |
C |
2: 65,166,135 (GRCm39) |
D212G |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,286,571 (GRCm39) |
K356R |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssc4d |
A |
G |
5: 135,999,192 (GRCm39) |
S4P |
possibly damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,177,679 (GRCm39) |
T82A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,460,530 (GRCm39) |
Q2597L |
probably benign |
Het |
| Uspl1 |
C |
T |
5: 149,150,872 (GRCm39) |
Q691* |
probably null |
Het |
| Ythdf3 |
T |
C |
3: 16,243,642 (GRCm39) |
V17A |
probably benign |
Het |
| Zscan29 |
T |
A |
2: 120,994,357 (GRCm39) |
R543* |
probably null |
Het |
|
| Other mutations in Rbm15b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01660:Rbm15b
|
APN |
9 |
106,762,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02514:Rbm15b
|
APN |
9 |
106,762,176 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02814:Rbm15b
|
APN |
9 |
106,762,975 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03110:Rbm15b
|
APN |
9 |
106,763,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03335:Rbm15b
|
APN |
9 |
106,761,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0004:Rbm15b
|
UTSW |
9 |
106,762,135 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0234:Rbm15b
|
UTSW |
9 |
106,762,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Rbm15b
|
UTSW |
9 |
106,762,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Rbm15b
|
UTSW |
9 |
106,763,197 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1981:Rbm15b
|
UTSW |
9 |
106,758,822 (GRCm39) |
unclassified |
probably benign |
|
|
R2966:Rbm15b
|
UTSW |
9 |
106,762,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4085:Rbm15b
|
UTSW |
9 |
106,762,936 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4890:Rbm15b
|
UTSW |
9 |
106,763,028 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5081:Rbm15b
|
UTSW |
9 |
106,762,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5118:Rbm15b
|
UTSW |
9 |
106,763,301 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5513:Rbm15b
|
UTSW |
9 |
106,763,316 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7341:Rbm15b
|
UTSW |
9 |
106,762,246 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7711:Rbm15b
|
UTSW |
9 |
106,763,142 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7842:Rbm15b
|
UTSW |
9 |
106,763,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8327:Rbm15b
|
UTSW |
9 |
106,761,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8372:Rbm15b
|
UTSW |
9 |
106,762,762 (GRCm39) |
missense |
|
|
|
R8855:Rbm15b
|
UTSW |
9 |
106,763,595 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8866:Rbm15b
|
UTSW |
9 |
106,763,595 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9201:Rbm15b
|
UTSW |
9 |
106,762,218 (GRCm39) |
missense |
unknown |
|
|
X0024:Rbm15b
|
UTSW |
9 |
106,762,578 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Posted On |
2015-04-16 |
Incidental Mutation