Incidental Mutation 'IGL02041:Rbm5'
| ID |
184775 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm5
|
| Ensembl Gene |
ENSMUSG00000032580 |
| Gene Name |
RNA binding motif protein 5 |
| Synonyms |
D030069N10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
IGL02041
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107617694-107648228 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 107633045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035199]
[ENSMUST00000182022]
[ENSMUST00000182304]
[ENSMUST00000182371]
[ENSMUST00000182421]
[ENSMUST00000182659]
[ENSMUST00000192130]
[ENSMUST00000183248]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000182007
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182022
|
| SMART Domains |
Protein: ENSMUSP00000138390
Gene: ENSMUSG00000032580
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
SCOP:d1h6kx_
|
96 |
137 |
2e-3 |
SMART |
|
Blast:RRM
|
99 |
137 |
3e-20 |
BLAST |
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000183307
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000182856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194682
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194400
|
| 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: ENSMUST00000193342
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183248
|
| SMART Domains |
Protein: ENSMUSP00000138294
Gene: ENSMUSG00000032580
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,772,674 (GRCm39) |
Q28L |
probably damaging |
Het |
| Abtb3 |
G |
A |
10: 85,223,418 (GRCm39) |
D76N |
unknown |
Het |
| Afg1l |
A |
G |
10: 42,330,376 (GRCm39) |
V97A |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 53,187,436 (GRCm39) |
S1617R |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,057,579 (GRCm39) |
N285D |
probably damaging |
Het |
| Arhgap20 |
A |
T |
9: 51,757,490 (GRCm39) |
N494I |
possibly damaging |
Het |
| Atg9a |
G |
T |
1: 75,159,748 (GRCm39) |
Q712K |
possibly damaging |
Het |
| Cdcp2 |
G |
A |
4: 106,964,386 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,136,363 (GRCm39) |
I84N |
possibly damaging |
Het |
| Clcn3 |
T |
C |
8: 61,376,187 (GRCm39) |
I596V |
probably damaging |
Het |
| Ctxn1 |
A |
G |
8: 4,308,514 (GRCm39) |
L39P |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,733,287 (GRCm39) |
V528D |
probably damaging |
Het |
| Fmod |
T |
G |
1: 133,968,001 (GRCm39) |
S14A |
probably benign |
Het |
| Foxh1 |
A |
G |
15: 76,553,120 (GRCm39) |
F198S |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,105,103 (GRCm39) |
E77G |
probably damaging |
Het |
| Gm5420 |
G |
T |
10: 21,566,933 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6434 |
T |
G |
7: 25,581,655 (GRCm39) |
|
noncoding transcript |
Het |
| Il1b |
A |
T |
2: 129,211,662 (GRCm39) |
N19K |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 26,860,322 (GRCm39) |
D3055V |
probably damaging |
Het |
| Lcn3 |
G |
A |
2: 25,655,636 (GRCm39) |
V18I |
probably benign |
Het |
| Lpcat2 |
A |
G |
8: 93,644,809 (GRCm39) |
S533G |
probably benign |
Het |
| Map4k2 |
G |
A |
19: 6,401,348 (GRCm39) |
R606Q |
probably benign |
Het |
| Mtnr1b |
T |
C |
9: 15,774,589 (GRCm39) |
T157A |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,397,689 (GRCm39) |
E2705K |
probably damaging |
Het |
| Ncf2 |
A |
G |
1: 152,711,871 (GRCm39) |
|
probably benign |
Het |
| Nfkbil1 |
G |
A |
17: 35,439,934 (GRCm39) |
T193M |
probably benign |
Het |
| Nmi |
T |
G |
2: 51,850,641 (GRCm39) |
K9T |
possibly damaging |
Het |
| Or2d4 |
T |
C |
7: 106,543,320 (GRCm39) |
D296G |
possibly damaging |
Het |
| Or5p69 |
T |
C |
7: 107,966,742 (GRCm39) |
F15S |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,104 (GRCm39) |
D119G |
probably damaging |
Het |
| Osbpl7 |
T |
A |
11: 96,951,334 (GRCm39) |
C502S |
probably benign |
Het |
| Pex5 |
A |
T |
6: 124,382,240 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,356,452 (GRCm39) |
|
probably null |
Het |
| Prmt3 |
C |
T |
7: 49,478,711 (GRCm39) |
T424M |
possibly damaging |
Het |
| Rapgef4 |
G |
A |
2: 72,029,140 (GRCm39) |
G404D |
probably damaging |
Het |
| Rfc2 |
T |
A |
5: 134,623,098 (GRCm39) |
F238L |
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,324,612 (GRCm39) |
E46G |
probably damaging |
Het |
| Sall1 |
A |
G |
8: 89,758,097 (GRCm39) |
F669S |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,218,558 (GRCm39) |
S260P |
probably benign |
Het |
| Slc26a8 |
A |
G |
17: 28,861,225 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tas2r115 |
A |
G |
6: 132,714,430 (GRCm39) |
F174L |
probably benign |
Het |
| Terb1 |
A |
C |
8: 105,221,746 (GRCm39) |
C185G |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,398 (GRCm39) |
V602E |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,423,391 (GRCm39) |
R237L |
probably damaging |
Het |
| Zfp865 |
T |
C |
7: 5,034,372 (GRCm39) |
S786P |
probably benign |
Het |
|
| Other mutations in Rbm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1239:Rbm5
|
UTSW |
9 |
107,630,165 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation