Incidental Mutation 'R1239:Rbm5'
| ID |
151890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm5
|
| Ensembl Gene |
ENSMUSG00000032580 |
| Gene Name |
RNA binding motif protein 5 |
| Synonyms |
D030069N10Rik |
| MMRRC Submission |
039306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R1239 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107617694-107648228 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 107630165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035199]
[ENSMUST00000182304]
[ENSMUST00000182371]
[ENSMUST00000182421]
[ENSMUST00000182659]
[ENSMUST00000192130]
|
| AlphaFold |
Q91YE7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035199
|
| SMART Domains |
Protein: ENSMUSP00000035199
Gene: ENSMUSG00000032580
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
RRM
|
99 |
174 |
5.98e-13 |
SMART |
|
ZnF_RBZ
|
183 |
207 |
1.53e-6 |
SMART |
|
RRM
|
232 |
311 |
9.5e-7 |
SMART |
|
low complexity region
|
329 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
446 |
N/A |
INTRINSIC |
|
Blast:RRM_2
|
483 |
506 |
1e-5 |
BLAST |
|
low complexity region
|
520 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
641 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
647 |
672 |
5.2e0 |
SMART |
|
coiled coil region
|
673 |
707 |
N/A |
INTRINSIC |
|
G_patch
|
741 |
787 |
1.85e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182304
|
| SMART Domains |
Protein: ENSMUSP00000138380
Gene: ENSMUSG00000032580
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
RRM
|
99 |
174 |
5.98e-13 |
SMART |
|
ZnF_RBZ
|
183 |
207 |
1.53e-6 |
SMART |
|
PDB:2LKZ|A
|
231 |
251 |
5e-6 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182332
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182371
|
| SMART Domains |
Protein: ENSMUSP00000138119
Gene: ENSMUSG00000032580
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
SCOP:d1h6kx_
|
96 |
138 |
6e-3 |
SMART |
|
Blast:RRM
|
99 |
136 |
3e-19 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182421
|
| SMART Domains |
Protein: ENSMUSP00000138778
Gene: ENSMUSG00000032580
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182422
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182659
|
| SMART Domains |
Protein: ENSMUSP00000138379
Gene: ENSMUSG00000032580
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
RRM
|
99 |
174 |
5.98e-13 |
SMART |
|
ZnF_RBZ
|
183 |
207 |
1.53e-6 |
SMART |
|
RRM
|
232 |
311 |
9.5e-7 |
SMART |
|
low complexity region
|
329 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
446 |
N/A |
INTRINSIC |
|
Blast:RRM_2
|
483 |
506 |
1e-5 |
BLAST |
|
low complexity region
|
520 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
641 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
647 |
672 |
5.2e0 |
SMART |
|
coiled coil region
|
673 |
707 |
N/A |
INTRINSIC |
|
G_patch
|
741 |
787 |
1.85e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194682
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192130
|
| SMART Domains |
Protein: ENSMUSP00000142194
Gene: ENSMUSG00000032580
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
SCOP:d1h6kx_
|
96 |
138 |
6e-3 |
SMART |
|
Blast:RRM
|
99 |
136 |
3e-19 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194400
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility with azoospermia, male germ cell apoptosis, round spermatid arrest and spermatid differentiation arrest. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
C |
T |
19: 4,915,483 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
G |
T |
15: 64,587,911 (GRCm39) |
R959S |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,586,171 (GRCm39) |
N455D |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,436,535 (GRCm39) |
T589A |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,863,347 (GRCm39) |
N1228K |
probably damaging |
Het |
| Ces4a |
T |
C |
8: 105,876,130 (GRCm39) |
L557P |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Clba1 |
A |
G |
12: 112,773,123 (GRCm39) |
R39G |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,237,152 (GRCm39) |
|
probably benign |
Het |
| Cplx2 |
G |
T |
13: 54,527,415 (GRCm39) |
A100S |
probably damaging |
Het |
| Cpsf6 |
G |
A |
10: 117,197,248 (GRCm39) |
|
probably benign |
Het |
| Cyp1a2 |
A |
G |
9: 57,589,050 (GRCm39) |
F255L |
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,492,313 (GRCm39) |
Y783H |
probably damaging |
Het |
| E230025N22Rik |
T |
C |
18: 36,818,528 (GRCm39) |
I434V |
probably damaging |
Het |
| Ermap |
T |
C |
4: 119,046,122 (GRCm39) |
K3E |
probably benign |
Het |
| Gatd3a |
A |
G |
10: 78,004,761 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
G |
A |
3: 107,891,344 (GRCm39) |
L125F |
possibly damaging |
Het |
| Hk2 |
C |
T |
6: 82,726,289 (GRCm39) |
G58R |
probably damaging |
Het |
| Jpt2 |
T |
C |
17: 25,179,585 (GRCm39) |
M1V |
probably null |
Het |
| Matcap2 |
GTTCTTC |
GTTC |
9: 22,335,995 (GRCm39) |
|
probably benign |
Het |
| Mgmt |
T |
C |
7: 136,729,786 (GRCm39) |
F200S |
probably benign |
Het |
| Mug2 |
T |
G |
6: 122,058,637 (GRCm39) |
|
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or5an11 |
G |
T |
19: 12,246,340 (GRCm39) |
V249F |
probably damaging |
Het |
| Or5b109 |
G |
A |
19: 13,212,040 (GRCm39) |
C142Y |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,968,279 (GRCm39) |
V886A |
probably damaging |
Het |
| Plcg2 |
T |
A |
8: 118,282,783 (GRCm39) |
V88D |
probably benign |
Het |
| Podxl2 |
C |
T |
6: 88,826,965 (GRCm39) |
V50I |
probably benign |
Het |
| Rap1gap |
G |
T |
4: 137,445,307 (GRCm39) |
M329I |
probably damaging |
Het |
| Robo1 |
A |
G |
16: 72,821,430 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,897,929 (GRCm39) |
|
probably null |
Het |
| Skida1 |
A |
C |
2: 18,052,128 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,243,781 (GRCm39) |
F2024L |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Vmn1r16 |
C |
T |
6: 57,300,618 (GRCm39) |
M1I |
probably null |
Het |
| Zbtb39 |
G |
T |
10: 127,578,938 (GRCm39) |
G504V |
probably damaging |
Het |
| Zfp1004 |
T |
C |
2: 150,033,891 (GRCm39) |
Y71H |
possibly damaging |
Het |
| Zfp106 |
A |
T |
2: 120,364,075 (GRCm39) |
N777K |
probably damaging |
Het |
|
| Other mutations in Rbm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02041:Rbm5
|
APN |
9 |
107,633,045 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02319:Rbm5
|
APN |
9 |
107,621,064 (GRCm39) |
nonsense |
probably null |
|
|
IGL02567:Rbm5
|
APN |
9 |
107,621,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02868:Rbm5
|
APN |
9 |
107,626,899 (GRCm39) |
splice site |
probably benign |
|
|
IGL02943:Rbm5
|
APN |
9 |
107,621,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Rbm5
|
APN |
9 |
107,631,384 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03029:Rbm5
|
APN |
9 |
107,631,652 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
PIT4403001:Rbm5
|
UTSW |
9 |
107,637,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0001:Rbm5
|
UTSW |
9 |
107,619,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Rbm5
|
UTSW |
9 |
107,628,907 (GRCm39) |
splice site |
probably benign |
|
|
R1170:Rbm5
|
UTSW |
9 |
107,619,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1297:Rbm5
|
UTSW |
9 |
107,621,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Rbm5
|
UTSW |
9 |
107,621,112 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1764:Rbm5
|
UTSW |
9 |
107,644,763 (GRCm39) |
nonsense |
probably null |
|
|
R1826:Rbm5
|
UTSW |
9 |
107,619,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1863:Rbm5
|
UTSW |
9 |
107,627,718 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4112:Rbm5
|
UTSW |
9 |
107,642,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4207:Rbm5
|
UTSW |
9 |
107,627,682 (GRCm39) |
missense |
probably benign |
|
|
R4343:Rbm5
|
UTSW |
9 |
107,629,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4441:Rbm5
|
UTSW |
9 |
107,626,887 (GRCm39) |
intron |
probably benign |
|
|
R4621:Rbm5
|
UTSW |
9 |
107,631,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4767:Rbm5
|
UTSW |
9 |
107,622,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Rbm5
|
UTSW |
9 |
107,637,511 (GRCm39) |
splice site |
probably benign |
|
|
R5404:Rbm5
|
UTSW |
9 |
107,642,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5876:Rbm5
|
UTSW |
9 |
107,637,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5959:Rbm5
|
UTSW |
9 |
107,629,339 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5983:Rbm5
|
UTSW |
9 |
107,622,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5984:Rbm5
|
UTSW |
9 |
107,622,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7436:Rbm5
|
UTSW |
9 |
107,627,593 (GRCm39) |
splice site |
probably null |
|
|
R7447:Rbm5
|
UTSW |
9 |
107,623,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Rbm5
|
UTSW |
9 |
107,628,930 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9377:Rbm5
|
UTSW |
9 |
107,627,252 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9602:Rbm5
|
UTSW |
9 |
107,629,152 (GRCm39) |
missense |
probably benign |
|
|
R9694:Rbm5
|
UTSW |
9 |
107,622,152 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGGACTGGAAGGTTAAGCCCTA -3'
(R):5'- TCTCAGACTTTATGTCCAGAAGCAGGT -3'
Sequencing Primer
(F):5'- GGTTAAGCCCTAAGAGAAGATGAC -3'
(R):5'- tctttcttcctttcttcctttcttc -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation