Incidental Mutation 'IGL03335:Rbm15b'
| ID |
417002 |
| 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 # |
IGL03335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
106758127-106764274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106761538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 877
(H877Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055009]
[ENSMUST00000055843]
[ENSMUST00000069036]
[ENSMUST00000159283]
[ENSMUST00000159645]
[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: 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 damaging
Transcript: ENSMUST00000055843
AA Change: H877Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059330
Gene: ENSMUSG00000074102
AA Change: H877Y
| 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 |
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
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,985,258 (GRCm39) |
V713A |
probably benign |
Het |
| Abtb3 |
A |
T |
10: 85,494,222 (GRCm39) |
|
probably benign |
Het |
| Actr8 |
T |
C |
14: 29,700,514 (GRCm39) |
V31A |
probably benign |
Het |
| Alcam |
A |
C |
16: 52,111,366 (GRCm39) |
Y244* |
probably null |
Het |
| Ankrd24 |
A |
G |
10: 81,482,967 (GRCm39) |
S972G |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,115,319 (GRCm39) |
V768E |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,661 (GRCm39) |
I1212V |
probably benign |
Het |
| Catsper1 |
C |
T |
19: 5,386,339 (GRCm39) |
R191C |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,949,386 (GRCm39) |
V57D |
probably benign |
Het |
| Cpsf3 |
T |
C |
12: 21,356,888 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,365,140 (GRCm39) |
S1633P |
probably damaging |
Het |
| Dsg1c |
G |
A |
18: 20,416,754 (GRCm39) |
R885Q |
probably benign |
Het |
| Egfl6 |
C |
A |
X: 165,321,689 (GRCm39) |
G272W |
probably damaging |
Het |
| Ermard |
T |
C |
17: 15,279,668 (GRCm39) |
L486P |
probably damaging |
Het |
| F13b |
A |
T |
1: 139,450,124 (GRCm39) |
L595F |
probably damaging |
Het |
| Foxm1 |
A |
G |
6: 128,349,531 (GRCm39) |
N350S |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,881,803 (GRCm39) |
|
probably benign |
Het |
| Gpr152 |
C |
A |
19: 4,193,770 (GRCm39) |
T437N |
possibly damaging |
Het |
| Icmt |
T |
A |
4: 152,385,154 (GRCm39) |
Y205* |
probably null |
Het |
| Ints8 |
A |
T |
4: 11,216,460 (GRCm39) |
F844I |
probably damaging |
Het |
| Mep1a |
T |
A |
17: 43,788,064 (GRCm39) |
D664V |
possibly damaging |
Het |
| Muc4 |
T |
A |
16: 32,574,449 (GRCm39) |
N966K |
probably benign |
Het |
| Myo7b |
T |
A |
18: 32,118,073 (GRCm39) |
Q851L |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,850 (GRCm39) |
H2095R |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,639,366 (GRCm39) |
L4P |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,329,947 (GRCm39) |
N166K |
probably benign |
Het |
| Qrfprl |
T |
C |
6: 65,430,101 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
G |
3: 79,006,492 (GRCm39) |
M137T |
probably damaging |
Het |
| Rbm45 |
T |
C |
2: 76,206,777 (GRCm39) |
L263P |
probably damaging |
Het |
| Rprd1b |
T |
C |
2: 157,916,884 (GRCm39) |
V288A |
probably damaging |
Het |
| Tmtc3 |
C |
A |
10: 100,302,116 (GRCm39) |
V278L |
probably damaging |
Het |
| Tomm70a |
A |
G |
16: 56,970,289 (GRCm39) |
T556A |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 57,035,504 (GRCm39) |
E143G |
probably damaging |
Het |
| Trpm3 |
G |
T |
19: 22,903,435 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
T |
C |
5: 87,054,499 (GRCm39) |
E94G |
probably benign |
Het |
| Vmn1r174 |
T |
C |
7: 23,453,937 (GRCm39) |
V201A |
probably benign |
Het |
| Zfp352 |
T |
C |
4: 90,112,583 (GRCm39) |
F241S |
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 |
|
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 |
2016-08-02 |
Incidental Mutation