Incidental Mutation 'IGL02567:Rbm5'
ID |
298851 |
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: 0.923)
|
Stock # |
IGL02567
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
107617694-107648228 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107621473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 642
(D642G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035199
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035199]
[ENSMUST00000182371]
[ENSMUST00000182421]
[ENSMUST00000182659]
|
AlphaFold |
Q91YE7 |
PDB Structure |
MHC CLASS I NATURAL MUTANT H-2KBM8 HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND PBM8 PEPTIDE [X-RAY DIFFRACTION]
crystal structure of BM3.3 ScFV TCR in complex with PBM8-H-2KBM8 MHC class I molecule [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035199
AA Change: D642G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000035199 Gene: ENSMUSG00000032580 AA Change: D642G
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 |
unknown
Transcript: ENSMUST00000182026
AA Change: D4G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182215
|
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 |
probably damaging
Transcript: ENSMUST00000182659
AA Change: D643G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138379 Gene: ENSMUSG00000032580 AA Change: D643G
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: ENSMUST00000194801
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182792
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183307
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194400
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff4 |
C |
A |
11: 53,263,578 (GRCm39) |
S199R |
possibly damaging |
Het |
Ano1 |
A |
G |
7: 144,165,362 (GRCm39) |
L621P |
probably damaging |
Het |
Calcr |
C |
T |
6: 3,691,564 (GRCm39) |
V404M |
probably damaging |
Het |
Carmil3 |
A |
G |
14: 55,736,339 (GRCm39) |
S635G |
possibly damaging |
Het |
Ccl12 |
C |
A |
11: 81,993,447 (GRCm39) |
S28R |
possibly damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cdhr3 |
T |
C |
12: 33,088,900 (GRCm39) |
N761D |
probably benign |
Het |
Col14a1 |
T |
C |
15: 55,208,357 (GRCm39) |
|
probably null |
Het |
Col28a1 |
T |
C |
6: 8,014,819 (GRCm39) |
K862R |
possibly damaging |
Het |
Cyp2c66 |
C |
T |
19: 39,175,084 (GRCm39) |
|
probably benign |
Het |
D5Ertd615e |
T |
C |
5: 45,320,758 (GRCm39) |
|
noncoding transcript |
Het |
Deup1 |
T |
C |
9: 15,486,579 (GRCm39) |
E367G |
probably damaging |
Het |
Dpp8 |
T |
G |
9: 64,986,058 (GRCm39) |
Y849* |
probably null |
Het |
Efhc1 |
T |
A |
1: 21,043,188 (GRCm39) |
V369E |
probably damaging |
Het |
Entrep2 |
T |
A |
7: 64,436,479 (GRCm39) |
M101L |
possibly damaging |
Het |
Epg5 |
A |
G |
18: 78,076,288 (GRCm39) |
Y2562C |
probably damaging |
Het |
Fbln5 |
A |
G |
12: 101,728,059 (GRCm39) |
|
probably null |
Het |
Frem1 |
A |
T |
4: 82,918,292 (GRCm39) |
M551K |
probably damaging |
Het |
Gba2 |
T |
C |
4: 43,567,281 (GRCm39) |
S889G |
probably benign |
Het |
Golph3 |
C |
T |
15: 12,349,507 (GRCm39) |
R176* |
probably null |
Het |
Got2 |
A |
T |
8: 96,598,829 (GRCm39) |
F191Y |
probably benign |
Het |
Gtf2ird2 |
G |
T |
5: 134,241,890 (GRCm39) |
|
probably benign |
Het |
H4c16 |
G |
A |
6: 136,781,272 (GRCm39) |
R36W |
probably damaging |
Het |
Hivep3 |
A |
G |
4: 119,991,153 (GRCm39) |
T2218A |
probably damaging |
Het |
Htr1f |
C |
T |
16: 64,746,611 (GRCm39) |
G227D |
probably benign |
Het |
Ifi202b |
C |
T |
1: 173,791,370 (GRCm39) |
S436N |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,437,969 (GRCm39) |
V2109D |
probably damaging |
Het |
Opa1 |
C |
A |
16: 29,407,104 (GRCm39) |
D29E |
probably benign |
Het |
Papln |
C |
T |
12: 83,825,611 (GRCm39) |
P631S |
probably benign |
Het |
Pde4c |
T |
A |
8: 71,200,570 (GRCm39) |
M352K |
probably benign |
Het |
Pigu |
T |
C |
2: 155,173,112 (GRCm39) |
T129A |
possibly damaging |
Het |
Pla2g4c |
T |
A |
7: 13,079,965 (GRCm39) |
H424Q |
probably damaging |
Het |
Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
Rnf111 |
T |
C |
9: 70,366,287 (GRCm39) |
T384A |
probably damaging |
Het |
Scn11a |
T |
C |
9: 119,633,555 (GRCm39) |
T393A |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,202,069 (GRCm39) |
K619M |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Syt9 |
A |
G |
7: 107,035,868 (GRCm39) |
Y295C |
probably damaging |
Het |
Taar7f |
T |
A |
10: 23,926,323 (GRCm39) |
Y306N |
probably damaging |
Het |
Tmem107 |
T |
G |
11: 68,961,845 (GRCm39) |
L25V |
possibly damaging |
Het |
Wdr24 |
T |
G |
17: 26,043,322 (GRCm39) |
I48S |
probably damaging |
Het |
Zc3hc1 |
T |
C |
6: 30,374,848 (GRCm39) |
D231G |
probably benign |
Het |
Zfp142 |
T |
C |
1: 74,617,309 (GRCm39) |
K341E |
possibly damaging |
Het |
Zfp142 |
T |
A |
1: 74,617,306 (GRCm39) |
S342C |
possibly damaging |
Het |
Zfp142 |
T |
G |
1: 74,617,308 (GRCm39) |
K341T |
possibly damaging |
Het |
Zfp804b |
T |
A |
5: 6,819,989 (GRCm39) |
I989L |
probably benign |
Het |
Zfyve9 |
A |
C |
4: 108,531,720 (GRCm39) |
V1095G |
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 |
|
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 |
2015-04-16 |