Incidental Mutation 'R5959:Rbm5'
| ID |
471358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm5
|
| Ensembl Gene |
ENSMUSG00000032580 |
| Gene Name |
RNA binding motif protein 5 |
| Synonyms |
D030069N10Rik |
| MMRRC Submission |
044146-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.923)
|
| Stock # |
R5959 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107617694-107648228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 107629339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 338
(I338L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035199]
[ENSMUST00000182304]
[ENSMUST00000182371]
[ENSMUST00000182421]
[ENSMUST00000182659]
[ENSMUST00000192130]
|
| AlphaFold |
Q91YE7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035199
AA Change: I338L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000035199
Gene: ENSMUSG00000032580
AA Change: I338L
| 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
AA Change: I338L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000138379
Gene: ENSMUSG00000032580
AA Change: I338L
| 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: ENSMUST00000183307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182792
|
| 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: ENSMUST00000194400
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.6%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
T |
11: 84,106,792 (GRCm39) |
N164Y |
probably damaging |
Het |
| Acp6 |
A |
G |
3: 97,073,888 (GRCm39) |
E164G |
probably damaging |
Het |
| Adcy5 |
A |
T |
16: 35,118,780 (GRCm39) |
I1044F |
probably damaging |
Het |
| Ahcyl2 |
A |
G |
6: 29,886,173 (GRCm39) |
D363G |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,451,879 (GRCm39) |
T273A |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,860,132 (GRCm39) |
Y862* |
probably null |
Het |
| Cfap221 |
T |
A |
1: 119,860,511 (GRCm39) |
H705L |
probably damaging |
Het |
| Cfap61 |
C |
T |
2: 145,789,053 (GRCm39) |
T19M |
probably benign |
Het |
| Chga |
T |
C |
12: 102,528,114 (GRCm39) |
S202P |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,894,109 (GRCm39) |
I93V |
probably damaging |
Het |
| Cpne1 |
G |
A |
2: 155,920,143 (GRCm39) |
S188L |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,232,725 (GRCm39) |
V2237I |
probably benign |
Het |
| Dguok |
C |
T |
6: 83,467,574 (GRCm39) |
R91H |
probably benign |
Het |
| Eed |
A |
G |
7: 89,618,835 (GRCm39) |
I193T |
probably damaging |
Het |
| Fasn |
C |
T |
11: 120,699,390 (GRCm39) |
E2353K |
probably damaging |
Het |
| Fpr-rs7 |
G |
A |
17: 20,334,011 (GRCm39) |
H160Y |
probably benign |
Het |
| Gramd4 |
T |
A |
15: 86,011,758 (GRCm39) |
M272K |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,022,783 (GRCm39) |
S940P |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,432,652 (GRCm39) |
S363T |
possibly damaging |
Het |
| Jak3 |
A |
G |
8: 72,134,715 (GRCm39) |
N481D |
probably damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,330 (GRCm39) |
K40E |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Lpcat4 |
T |
A |
2: 112,070,380 (GRCm39) |
L31H |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,548,345 (GRCm39) |
T38A |
probably benign |
Het |
| Myt1l |
T |
C |
12: 29,970,039 (GRCm39) |
|
probably null |
Het |
| Nbas |
T |
C |
12: 13,338,802 (GRCm39) |
V214A |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,046,389 (GRCm39) |
R6537L |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,965,413 (GRCm39) |
F1666I |
probably benign |
Het |
| Or52z1 |
T |
A |
7: 103,436,723 (GRCm39) |
I254F |
probably damaging |
Het |
| Or8b1 |
A |
G |
9: 38,400,207 (GRCm39) |
N294S |
probably damaging |
Het |
| Prmt8 |
C |
A |
6: 127,706,381 (GRCm39) |
V137L |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,675,148 (GRCm39) |
|
probably null |
Het |
| Rab15 |
A |
G |
12: 76,869,043 (GRCm39) |
S17P |
probably damaging |
Het |
| Rragc |
G |
A |
4: 123,817,767 (GRCm39) |
S218N |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,449,849 (GRCm39) |
M3965T |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,380,322 (GRCm39) |
I837F |
probably benign |
Het |
| Sorcs3 |
T |
G |
19: 48,737,835 (GRCm39) |
C751G |
probably damaging |
Het |
| Sowahc |
A |
G |
10: 59,058,920 (GRCm39) |
D352G |
probably benign |
Het |
| Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
| Spata31f1e |
T |
A |
4: 42,793,492 (GRCm39) |
K213N |
probably damaging |
Het |
| Srr |
A |
G |
11: 74,801,891 (GRCm39) |
V126A |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 49,099,482 (GRCm39) |
R108* |
probably null |
Het |
| Traf3ip2 |
A |
T |
10: 39,517,337 (GRCm39) |
M403L |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,954,593 (GRCm39) |
D949G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,544,960 (GRCm39) |
I32714T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,693,849 (GRCm39) |
T218S |
possibly damaging |
Het |
| Uaca |
A |
T |
9: 60,778,052 (GRCm39) |
H811L |
probably damaging |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,813 (GRCm39) |
E182G |
probably benign |
Het |
| Vmn1r49 |
T |
C |
6: 90,049,786 (GRCm39) |
D72G |
probably damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,005,313 (GRCm39) |
M317L |
probably benign |
Het |
| Vwa2 |
T |
C |
19: 56,869,604 (GRCm39) |
L13P |
possibly damaging |
Het |
| Zc3hav1 |
G |
A |
6: 38,284,379 (GRCm39) |
T912I |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,807,776 (GRCm39) |
K323E |
probably benign |
Het |
| Zfyve27 |
T |
G |
19: 42,167,887 (GRCm39) |
V143G |
unknown |
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 |
|
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 |
|
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'- ACTGTAGTCAACACTGCCTCC -3'
(R):5'- ATGCACCCTTACTAGCATTTGAG -3'
Sequencing Primer
(F):5'- TCCTTCACCACTTTGAGACTATAG -3'
(R):5'- AGCATTTGAGACACATATCCCTTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation