Incidental Mutation 'R5118:Rbm15b'
ID |
392749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm15b
|
Ensembl Gene |
ENSMUSG00000074102 |
Gene Name |
RNA binding motif protein 15B |
Synonyms |
1810017N16Rik |
MMRRC Submission |
042706-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.487)
|
Stock # |
R5118 (G1)
|
Quality Score |
139 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
106758127-106764274 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 106763301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 289
(A289E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059330
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055843]
[ENSMUST00000069036]
[ENSMUST00000159283]
|
AlphaFold |
Q6PHZ5 |
PDB Structure |
Solution structure of the RNA recognition motif from hypothetical RNA binding protein BC052180 [SOLUTION NMR]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055843
AA Change: A289E
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000059330 Gene: ENSMUSG00000074102 AA Change: A289E
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: ENSMUST00000185707
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
96% (52/54) |
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 |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Adamts2 |
A |
G |
11: 50,672,696 (GRCm39) |
E648G |
probably damaging |
Het |
Ankrd55 |
A |
G |
13: 112,492,473 (GRCm39) |
S187G |
probably benign |
Het |
Cd44 |
C |
A |
2: 102,695,715 (GRCm39) |
E52D |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,814,204 (GRCm39) |
I603F |
unknown |
Het |
Dmxl2 |
C |
A |
9: 54,368,271 (GRCm39) |
R233L |
probably damaging |
Het |
Dop1a |
T |
C |
9: 86,388,312 (GRCm39) |
F429L |
probably damaging |
Het |
Epsti1 |
T |
G |
14: 78,224,122 (GRCm39) |
|
probably null |
Het |
Erfe |
G |
T |
1: 91,298,438 (GRCm39) |
|
probably null |
Het |
Galnt5 |
A |
G |
2: 57,905,015 (GRCm39) |
D526G |
probably damaging |
Het |
Gatd1 |
A |
T |
7: 140,986,719 (GRCm39) |
|
probably benign |
Het |
Gm1330 |
T |
C |
2: 148,844,906 (GRCm39) |
|
probably benign |
Het |
Gm6181 |
G |
A |
7: 52,405,364 (GRCm39) |
|
noncoding transcript |
Het |
Irak2 |
T |
A |
6: 113,642,772 (GRCm39) |
V68D |
probably benign |
Het |
Kdm1a |
A |
G |
4: 136,284,669 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
C |
A |
12: 25,042,296 (GRCm39) |
Q198K |
probably damaging |
Het |
Lgr5 |
A |
G |
10: 115,288,244 (GRCm39) |
V728A |
possibly damaging |
Het |
Micall2 |
G |
A |
5: 139,702,202 (GRCm39) |
T347M |
probably damaging |
Het |
Mrap2 |
T |
C |
9: 87,064,756 (GRCm39) |
F166L |
possibly damaging |
Het |
Msh3 |
A |
T |
13: 92,445,942 (GRCm39) |
|
probably benign |
Het |
Mul1 |
T |
A |
4: 138,166,660 (GRCm39) |
L238Q |
probably damaging |
Het |
Nuak1 |
G |
T |
10: 84,210,848 (GRCm39) |
H413Q |
probably benign |
Het |
Or10j27 |
T |
C |
1: 172,958,484 (GRCm39) |
Q100R |
possibly damaging |
Het |
Pcnt |
C |
T |
10: 76,248,002 (GRCm39) |
A931T |
probably damaging |
Het |
Pramel20 |
T |
C |
4: 143,297,697 (GRCm39) |
L39P |
probably damaging |
Het |
Pramel34 |
T |
A |
5: 93,785,656 (GRCm39) |
D208V |
probably benign |
Het |
Psmb4 |
T |
C |
3: 94,792,253 (GRCm39) |
Y223C |
probably damaging |
Het |
Reg3b |
T |
A |
6: 78,349,111 (GRCm39) |
V79E |
probably damaging |
Het |
Rsl1 |
A |
G |
13: 67,330,045 (GRCm39) |
I164M |
probably damaging |
Het |
Rtp1 |
T |
C |
16: 23,250,285 (GRCm39) |
F217L |
probably benign |
Het |
Sfmbt1 |
T |
C |
14: 30,512,727 (GRCm39) |
L360P |
probably damaging |
Het |
Sorbs2 |
T |
C |
8: 46,248,822 (GRCm39) |
V611A |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,542,293 (GRCm39) |
D1935E |
probably damaging |
Het |
Tep1 |
T |
C |
14: 51,093,044 (GRCm39) |
|
probably null |
Het |
Tmppe |
T |
G |
9: 114,234,549 (GRCm39) |
S283A |
probably benign |
Het |
Tmtc1 |
A |
G |
6: 148,171,485 (GRCm39) |
|
probably benign |
Het |
Trp63 |
T |
C |
16: 25,707,760 (GRCm39) |
I552T |
unknown |
Het |
Tspan2 |
C |
A |
3: 102,657,151 (GRCm39) |
D45E |
probably benign |
Het |
Tut4 |
T |
A |
4: 108,377,489 (GRCm39) |
D966E |
possibly damaging |
Het |
Ubr1 |
T |
C |
2: 120,712,745 (GRCm39) |
E1396G |
probably benign |
Het |
Usp17lc |
A |
T |
7: 103,067,868 (GRCm39) |
T388S |
probably benign |
Het |
Wdr46 |
T |
C |
17: 34,167,811 (GRCm39) |
V508A |
possibly damaging |
Het |
Zfp462 |
T |
A |
4: 55,010,667 (GRCm39) |
Y878N |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
Zfp954 |
T |
A |
7: 7,118,714 (GRCm39) |
T277S |
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 |
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'- AACACTGTGGTCCAGGTTGC -3'
(R):5'- TCTTCCACCAGTTCAAGCG -3'
Sequencing Primer
(F):5'- GTCCAGGTTGCCGATGAAG -3'
(R):5'- ACCAGTTCAAGCGGTTCG -3'
|
Posted On |
2016-06-15 |