Incidental Mutation 'R8372:Rbm15b'
ID |
646499 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm15b
|
Ensembl Gene |
ENSMUSG00000074102 |
Gene Name |
RNA binding motif protein 15B |
Synonyms |
1810017N16Rik |
MMRRC Submission |
067875-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.487)
|
Stock # |
R8372 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
106758127-106764274 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106762762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 19
(M19V)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055843]
[ENSMUST00000069036]
[ENSMUST00000159283]
[ENSMUST00000161758]
|
AlphaFold |
Q6PHZ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055843
AA Change: M469V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000059330 Gene: ENSMUSG00000074102 AA Change: M469V
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 |
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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 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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
G |
16: 4,682,152 (GRCm39) |
D155G |
probably damaging |
Het |
Adgrg7 |
T |
A |
16: 56,616,114 (GRCm39) |
|
probably benign |
Het |
Agap2 |
T |
C |
10: 126,925,185 (GRCm39) |
S833P |
unknown |
Het |
B4galnt2 |
T |
C |
11: 95,760,106 (GRCm39) |
E307G |
possibly damaging |
Het |
Bcl9l |
A |
G |
9: 44,418,528 (GRCm39) |
M826V |
probably benign |
Het |
C2cd3 |
C |
T |
7: 100,104,487 (GRCm39) |
Q2167* |
probably null |
Het |
Ccdc7a |
T |
C |
8: 129,547,585 (GRCm39) |
E1289G |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,385,203 (GRCm39) |
V1893A |
probably benign |
Het |
Clec4g |
T |
C |
8: 3,757,990 (GRCm39) |
|
probably benign |
Het |
Cspg4 |
A |
G |
9: 56,794,479 (GRCm39) |
E738G |
probably damaging |
Het |
Cyth4 |
A |
G |
15: 78,481,335 (GRCm39) |
|
probably benign |
Het |
Dab2 |
A |
C |
15: 6,446,406 (GRCm39) |
S8R |
possibly damaging |
Het |
Dclk3 |
A |
G |
9: 111,314,081 (GRCm39) |
D719G |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,111,514 (GRCm39) |
V2540A |
possibly damaging |
Het |
Elavl1 |
T |
C |
8: 4,339,664 (GRCm39) |
N306S |
probably damaging |
Het |
Ercc6l2 |
T |
C |
13: 64,001,563 (GRCm39) |
V459A |
probably damaging |
Het |
Fcgr2b |
A |
G |
1: 170,793,330 (GRCm39) |
V233A |
probably benign |
Het |
Gfm2 |
T |
C |
13: 97,301,552 (GRCm39) |
S452P |
possibly damaging |
Het |
Gpr15 |
A |
G |
16: 58,538,850 (GRCm39) |
F80L |
probably benign |
Het |
Ighv13-2 |
A |
T |
12: 114,321,681 (GRCm39) |
C19* |
probably null |
Het |
Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
Klhl9 |
A |
G |
4: 88,639,596 (GRCm39) |
L215P |
probably damaging |
Het |
Krtap20-1 |
G |
C |
16: 88,812,385 (GRCm39) |
G57R |
unknown |
Het |
Or9k2b |
A |
G |
10: 130,016,656 (GRCm39) |
F31S |
probably damaging |
Het |
Parp8 |
T |
A |
13: 116,991,786 (GRCm39) |
Q872H |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,042,696 (GRCm39) |
S1531P |
probably damaging |
Het |
Psg16 |
A |
G |
7: 16,829,240 (GRCm39) |
T275A |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,230,688 (GRCm39) |
T260A |
possibly damaging |
Het |
Rapgef1 |
G |
A |
2: 29,600,243 (GRCm39) |
G655S |
probably damaging |
Het |
Rbm42 |
A |
G |
7: 30,340,631 (GRCm39) |
S447P |
unknown |
Het |
Rsf1 |
T |
C |
7: 97,311,624 (GRCm39) |
S785P |
|
Het |
Scnn1a |
A |
G |
6: 125,320,681 (GRCm39) |
N578S |
probably damaging |
Het |
Slc39a7 |
T |
C |
17: 34,249,639 (GRCm39) |
N169D |
probably damaging |
Het |
Spp1 |
A |
G |
5: 104,588,122 (GRCm39) |
T175A |
probably benign |
Het |
Tigd5 |
A |
G |
15: 75,782,337 (GRCm39) |
H233R |
probably benign |
Het |
Tmprss3 |
C |
T |
17: 31,403,671 (GRCm39) |
V377I |
probably benign |
Het |
Vmn1r75 |
A |
T |
7: 11,614,657 (GRCm39) |
I130F |
probably benign |
Het |
Xpo4 |
A |
G |
14: 57,835,341 (GRCm39) |
|
probably null |
Het |
Xrn1 |
A |
G |
9: 95,906,166 (GRCm39) |
T1186A |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,953,506 (GRCm39) |
Y172H |
probably damaging |
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 |
IGL02585:Rbm15b
|
APN |
9 |
106,763,025 (GRCm39) |
missense |
probably benign |
0.22 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGTCTCGGTCTGAATACAG -3'
(R):5'- TGATTGGCAGAAACCCCATAAAG -3'
Sequencing Primer
(F):5'- GTCCTATCCCGCACCCTAAGG -3'
(R):5'- GGCTACGGCAAGGCTAAC -3'
|
Posted On |
2020-09-02 |