Incidental Mutation 'R2966:Rbm15b'
| ID |
264670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm15b
|
| Ensembl Gene |
ENSMUSG00000074102 |
| Gene Name |
RNA binding motif protein 15B |
| Synonyms |
1810017N16Rik |
| MMRRC Submission |
040522-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.487)
|
| Stock # |
R2966 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106758127-106764274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106762791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 459
(L459P)
|
| 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 damaging
Transcript: ENSMUST00000055843
AA Change: L459P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059330
Gene: ENSMUSG00000074102
AA Change: L459P
| 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 |
unknown
Transcript: ENSMUST00000185707
AA Change: L9P
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
| Adamts1 |
A |
G |
16: 85,593,662 (GRCm39) |
V691A |
possibly damaging |
Het |
| Add1 |
C |
A |
5: 34,788,058 (GRCm39) |
D702E |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,066,357 (GRCm39) |
D148G |
probably damaging |
Het |
| Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
| Atp11a |
A |
T |
8: 12,897,853 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
T |
C |
5: 67,805,049 (GRCm39) |
D1022G |
probably benign |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Bnc2 |
G |
A |
4: 84,211,754 (GRCm39) |
A300V |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,836,798 (GRCm39) |
K2256E |
probably benign |
Het |
| Cfap300 |
C |
T |
9: 8,027,175 (GRCm39) |
R121Q |
probably damaging |
Het |
| Chrna2 |
T |
C |
14: 66,386,817 (GRCm39) |
V321A |
possibly damaging |
Het |
| Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
| Col2a1 |
A |
G |
15: 97,873,976 (GRCm39) |
I1402T |
unknown |
Het |
| Ddx43 |
C |
A |
9: 78,313,661 (GRCm39) |
Y197* |
probably null |
Het |
| Dyrk2 |
T |
A |
10: 118,696,242 (GRCm39) |
K339* |
probably null |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Fgd6 |
T |
A |
10: 93,880,056 (GRCm39) |
F303L |
probably benign |
Het |
| Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
| Gabra5 |
T |
C |
7: 57,058,389 (GRCm39) |
E453G |
probably damaging |
Het |
| Gatd1 |
T |
A |
7: 140,989,080 (GRCm39) |
D193V |
probably damaging |
Het |
| Gm6871 |
T |
G |
7: 41,222,864 (GRCm39) |
T75P |
probably benign |
Het |
| Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
| Has2 |
A |
G |
15: 56,545,533 (GRCm39) |
L23P |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,050,761 (GRCm39) |
S664P |
probably benign |
Het |
| Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,745,154 (GRCm39) |
V1807A |
possibly damaging |
Het |
| Myh1 |
A |
G |
11: 67,105,410 (GRCm39) |
K1067E |
probably damaging |
Het |
| Nav2 |
C |
T |
7: 49,206,780 (GRCm39) |
T1535I |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,454,191 (GRCm39) |
E483G |
possibly damaging |
Het |
| Nsd2 |
G |
C |
5: 34,003,466 (GRCm39) |
E205D |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,731,164 (GRCm39) |
L3222P |
unknown |
Het |
| Pnpla2 |
C |
T |
7: 141,038,391 (GRCm39) |
L215F |
probably damaging |
Het |
| Prss35 |
A |
G |
9: 86,637,635 (GRCm39) |
D135G |
probably damaging |
Het |
| Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
| Rab21 |
T |
C |
10: 115,130,814 (GRCm39) |
N164S |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,809,685 (GRCm39) |
L530Q |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,309,313 (GRCm39) |
V586A |
probably benign |
Het |
| Rprd2 |
A |
T |
3: 95,673,745 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
A |
3: 72,796,343 (GRCm39) |
I1813L |
probably benign |
Het |
| Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,764,469 (GRCm39) |
V58A |
probably damaging |
Het |
| Trav7d-4 |
C |
T |
14: 53,007,584 (GRCm39) |
Q26* |
probably null |
Het |
| Usp48 |
G |
A |
4: 137,341,073 (GRCm39) |
V358M |
probably damaging |
Het |
| Vmn1r39 |
A |
C |
6: 66,781,715 (GRCm39) |
I201S |
possibly damaging |
Het |
| Zcchc8 |
A |
G |
5: 123,858,930 (GRCm39) |
S22P |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTATATCCGTCAGTGAGC -3'
(R):5'- TCAGAATCTGGACATGGCAC -3'
Sequencing Primer
(F):5'- TATCCGTCAGTGAGCAGCTCATAG -3'
(R):5'- GGTGATTGGCAGAAACCCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation