Incidental Mutation 'IGL03110:Rbm15b'
ID |
419162 |
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 # |
IGL03110
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
106758127-106764274 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106763173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 332
(T332A)
|
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: T332A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059330 Gene: ENSMUSG00000074102 AA Change: T332A
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,333,295 (GRCm39) |
E473G |
probably damaging |
Het |
Acp7 |
T |
C |
7: 28,310,464 (GRCm39) |
M458V |
probably benign |
Het |
Acrbp |
G |
T |
6: 125,039,436 (GRCm39) |
C485F |
probably damaging |
Het |
Actn2 |
T |
C |
13: 12,324,493 (GRCm39) |
I117V |
probably benign |
Het |
Ahr |
T |
C |
12: 35,554,970 (GRCm39) |
E383G |
probably damaging |
Het |
Cacna2d4 |
A |
T |
6: 119,213,698 (GRCm39) |
H39L |
probably benign |
Het |
Cdh11 |
G |
T |
8: 103,400,502 (GRCm39) |
N155K |
probably damaging |
Het |
Cldnd1 |
T |
A |
16: 58,549,959 (GRCm39) |
N47K |
possibly damaging |
Het |
Ddb1 |
C |
T |
19: 10,590,309 (GRCm39) |
R279W |
probably damaging |
Het |
Dido1 |
A |
T |
2: 180,331,135 (GRCm39) |
D104E |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 30,988,674 (GRCm39) |
S3386T |
probably benign |
Het |
Galnt18 |
T |
A |
7: 111,147,920 (GRCm39) |
E352V |
probably benign |
Het |
Gm5407 |
T |
A |
16: 49,117,757 (GRCm39) |
|
noncoding transcript |
Het |
Gucy1b2 |
T |
C |
14: 62,671,283 (GRCm39) |
|
probably benign |
Het |
Guf1 |
C |
A |
5: 69,715,820 (GRCm39) |
L87I |
probably damaging |
Het |
Hikeshi |
A |
G |
7: 89,585,034 (GRCm39) |
S57P |
probably damaging |
Het |
Igkv17-121 |
T |
A |
6: 68,013,851 (GRCm39) |
V17D |
probably damaging |
Het |
Itgad |
T |
C |
7: 127,785,157 (GRCm39) |
V324A |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,105,981 (GRCm39) |
L2072Q |
probably benign |
Het |
Lrrc31 |
T |
C |
3: 30,733,415 (GRCm39) |
E433G |
probably benign |
Het |
Mrc1 |
T |
A |
2: 14,298,289 (GRCm39) |
L715* |
probably null |
Het |
Nbeal2 |
T |
G |
9: 110,460,501 (GRCm39) |
K1778Q |
probably damaging |
Het |
Or4c35 |
A |
T |
2: 89,808,493 (GRCm39) |
I124F |
probably damaging |
Het |
Or51a39 |
C |
A |
7: 102,363,090 (GRCm39) |
G177C |
probably damaging |
Het |
Or5m3 |
T |
A |
2: 85,838,942 (GRCm39) |
V274E |
probably damaging |
Het |
Ppp1r3a |
T |
A |
6: 14,722,064 (GRCm39) |
|
probably benign |
Het |
Prss37 |
T |
C |
6: 40,495,984 (GRCm39) |
Y6C |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,586,915 (GRCm39) |
Q1602R |
probably damaging |
Het |
S100a7l2 |
C |
T |
3: 90,995,626 (GRCm39) |
R92H |
unknown |
Het |
Snrnp70 |
C |
A |
7: 45,026,283 (GRCm39) |
|
probably benign |
Het |
Spidr |
T |
C |
16: 15,707,618 (GRCm39) |
E893G |
probably damaging |
Het |
Stxbp2 |
T |
C |
8: 3,683,342 (GRCm39) |
I74T |
probably damaging |
Het |
Tgm2 |
G |
A |
2: 157,973,410 (GRCm39) |
Q234* |
probably null |
Het |
Thbd |
T |
C |
2: 148,248,716 (GRCm39) |
D384G |
probably benign |
Het |
Zan |
T |
C |
5: 137,418,278 (GRCm39) |
N2940S |
unknown |
Het |
Zmat3 |
T |
A |
3: 32,399,701 (GRCm39) |
N100I |
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 |
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 |
2016-08-02 |