Incidental Mutation 'R9201:Rbm15b'
| ID |
698232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm15b
|
| Ensembl Gene |
ENSMUSG00000074102 |
| Gene Name |
RNA binding motif protein 15B |
| Synonyms |
1810017N16Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.487)
|
| Stock # |
R9201 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106758127-106764274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106762218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 138
(S138P)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055009]
[ENSMUST00000055843]
[ENSMUST00000069036]
[ENSMUST00000159283]
[ENSMUST00000159645]
[ENSMUST00000161758]
|
| AlphaFold |
Q6PHZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055009
|
| SMART Domains |
Protein: ENSMUSP00000060025
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 |
1392 |
N/A |
PDB |
|
SCOP:d1tbga_
|
1063 |
1375 |
9e-20 |
SMART |
|
Blast:WD40
|
1078 |
1120 |
3e-22 |
BLAST |
|
Blast:WD40
|
1123 |
1164 |
7e-19 |
BLAST |
|
low complexity region
|
1393 |
1452 |
N/A |
INTRINSIC |
|
low complexity region
|
1457 |
1483 |
N/A |
INTRINSIC |
|
PDB:4P7I|D
|
1484 |
1506 |
2e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055843
AA Change: L650P
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000059330
Gene: ENSMUSG00000074102
AA Change: L650P
| 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: ENSMUST00000159645
|
| SMART Domains |
Protein: ENSMUSP00000123865
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 |
1394 |
N/A |
PDB |
|
SCOP:d1tbga_
|
1063 |
1375 |
1e-19 |
SMART |
|
Blast:WD40
|
1078 |
1120 |
2e-22 |
BLAST |
|
Blast:WD40
|
1123 |
1164 |
7e-19 |
BLAST |
|
low complexity region
|
1395 |
1402 |
N/A |
INTRINSIC |
|
| 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 |
unknown
Transcript: ENSMUST00000185707
AA Change: S138P
|
| 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 |
probably benign
Transcript: ENSMUST00000163657
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,150,709 (GRCm39) |
V21A |
possibly damaging |
Het |
| Abcc2 |
T |
C |
19: 43,786,880 (GRCm39) |
F167S |
probably damaging |
Het |
| Afap1l2 |
C |
A |
19: 56,916,688 (GRCm39) |
W280L |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,378,798 (GRCm39) |
M2540K |
possibly damaging |
Het |
| Atxn10 |
T |
C |
15: 85,243,687 (GRCm39) |
V50A |
probably damaging |
Het |
| Bpifb2 |
A |
T |
2: 153,733,903 (GRCm39) |
Q415L |
possibly damaging |
Het |
| Cat |
A |
T |
2: 103,304,754 (GRCm39) |
D90E |
possibly damaging |
Het |
| Cdh12 |
T |
C |
15: 21,237,825 (GRCm39) |
L20P |
possibly damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cimap3 |
T |
A |
3: 105,906,921 (GRCm39) |
K159N |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,519,684 (GRCm39) |
I230T |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Dcaf15 |
T |
C |
8: 84,828,699 (GRCm39) |
T159A |
possibly damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,138,000 (GRCm39) |
D88G |
probably benign |
Het |
| Edem3 |
G |
T |
1: 151,694,324 (GRCm39) |
V886F |
probably benign |
Het |
| Ero1a |
A |
G |
14: 45,525,214 (GRCm39) |
V437A |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,945,079 (GRCm39) |
V1324A |
probably damaging |
Het |
| Fgfr1op2 |
A |
G |
6: 146,494,217 (GRCm39) |
E161G |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,127,613 (GRCm39) |
Y318* |
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Kmt5a |
A |
T |
5: 124,597,912 (GRCm39) |
E256D |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,205 (GRCm39) |
S179T |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,461,156 (GRCm39) |
S741P |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,340,093 (GRCm39) |
H844L |
probably damaging |
Het |
| Nrip3 |
T |
C |
7: 109,360,906 (GRCm39) |
T230A |
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,263,473 (GRCm39) |
K322R |
probably benign |
Het |
| Or14c40 |
T |
C |
7: 86,313,749 (GRCm39) |
I293T |
probably damaging |
Het |
| Or9a7 |
C |
T |
6: 40,521,293 (GRCm39) |
V207I |
probably benign |
Het |
| Paqr3 |
A |
G |
5: 97,245,365 (GRCm39) |
S256P |
possibly damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,678,640 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
T |
A |
9: 50,789,447 (GRCm39) |
N503K |
probably benign |
Het |
| Ppp2r2b |
A |
G |
18: 42,871,101 (GRCm39) |
Y70H |
possibly damaging |
Het |
| Pramel34 |
A |
T |
5: 93,785,937 (GRCm39) |
N114K |
probably benign |
Het |
| Ptprz1 |
G |
T |
6: 22,972,869 (GRCm39) |
|
probably null |
Het |
| Slc4a5 |
C |
T |
6: 83,262,812 (GRCm39) |
T768I |
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,446,044 (GRCm39) |
N137K |
probably damaging |
Het |
| Snai2 |
A |
T |
16: 14,524,632 (GRCm39) |
E46V |
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,184,773 (GRCm39) |
S772G |
possibly damaging |
Het |
| Spidr |
G |
T |
16: 15,730,556 (GRCm39) |
R650S |
possibly damaging |
Het |
| Stox1 |
A |
G |
10: 62,501,352 (GRCm39) |
S403P |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,936,561 (GRCm39) |
K1496E |
probably benign |
Het |
| Tsc1 |
T |
C |
2: 28,576,791 (GRCm39) |
V1031A |
probably benign |
Het |
| Txnrd1 |
T |
C |
10: 82,719,821 (GRCm39) |
I394T |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,277,727 (GRCm39) |
F2286I |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,444,396 (GRCm39) |
V513A |
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 |
|
|
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 |
|
X0024:Rbm15b
|
UTSW |
9 |
106,762,578 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTGGGCATATTCTGACAGAG -3'
(R):5'- TATAGCCGCTCAGTTCGCAG -3'
Sequencing Primer
(F):5'- GGCATATTCTGACAGAGTCTTTAGC -3'
(R):5'- CATAGCCAAGCCCTGGGAAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation