Incidental Mutation 'R4767:Rbm5'
| ID |
366224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm5
|
| Ensembl Gene |
ENSMUSG00000032580 |
| Gene Name |
RNA binding motif protein 5 |
| Synonyms |
D030069N10Rik |
| MMRRC Submission |
042408-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.923)
|
| Stock # |
R4767 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107617694-107648228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 107622412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Cysteine
at position 546
(W546C)
|
| 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: W546C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035199
Gene: ENSMUSG00000032580
AA Change: W546C
| 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: ENSMUST00000182026
|
| 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: W547C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138379
Gene: ENSMUSG00000032580
AA Change: W547C
| 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: ENSMUST00000182792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183307
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194400
|
| Meta Mutation Damage Score |
0.7946 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
95% (62/65) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,029,804 (GRCm39) |
|
probably null |
Het |
| Aig1 |
T |
C |
10: 13,677,602 (GRCm39) |
N130S |
probably damaging |
Het |
| Alx1 |
A |
T |
10: 102,861,047 (GRCm39) |
Y160* |
probably null |
Het |
| Ap4e1 |
T |
C |
2: 126,902,358 (GRCm39) |
I755T |
probably benign |
Het |
| Apoc3 |
C |
A |
9: 46,145,833 (GRCm39) |
E21* |
probably null |
Het |
| Atp9b |
G |
T |
18: 80,796,285 (GRCm39) |
H919Q |
probably damaging |
Het |
| Cemip |
T |
G |
7: 83,622,514 (GRCm39) |
Y555S |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,971,025 (GRCm39) |
V252A |
possibly damaging |
Het |
| Cracr2a |
A |
T |
6: 127,588,470 (GRCm39) |
N210Y |
probably damaging |
Het |
| Crocc2 |
G |
A |
1: 93,130,578 (GRCm39) |
R953Q |
possibly damaging |
Het |
| Csnk1d |
A |
G |
11: 120,859,954 (GRCm39) |
S318P |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,427,751 (GRCm39) |
L384P |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,270,620 (GRCm39) |
T974I |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,163,922 (GRCm39) |
Y863C |
possibly damaging |
Het |
| Epg5 |
C |
A |
18: 78,066,498 (GRCm39) |
P2133T |
possibly damaging |
Het |
| Ephb6 |
A |
T |
6: 41,591,119 (GRCm39) |
Q92L |
possibly damaging |
Het |
| Ercc4 |
C |
A |
16: 12,939,959 (GRCm39) |
A73D |
probably damaging |
Het |
| Eva1c |
A |
T |
16: 90,701,235 (GRCm39) |
Y290F |
probably damaging |
Het |
| Galnt5 |
T |
A |
2: 57,918,156 (GRCm39) |
V798E |
possibly damaging |
Het |
| Haus4 |
T |
C |
14: 54,786,342 (GRCm39) |
E149G |
probably damaging |
Het |
| Ighv1-13 |
A |
G |
12: 114,594,556 (GRCm39) |
Y86C |
unknown |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,633,620 (GRCm39) |
V1584A |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,358,010 (GRCm39) |
E1119G |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,825,185 (GRCm39) |
L335P |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,237,550 (GRCm39) |
D375G |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,051,358 (GRCm39) |
I317T |
probably damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,558,898 (GRCm39) |
V128I |
probably benign |
Het |
| Nlrp2 |
C |
T |
7: 5,331,023 (GRCm39) |
D458N |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,624,335 (GRCm39) |
M1L |
probably benign |
Het |
| Or1o1 |
T |
A |
17: 37,717,091 (GRCm39) |
C217* |
probably null |
Het |
| Or5a1 |
G |
T |
19: 12,097,300 (GRCm39) |
H247N |
probably damaging |
Het |
| Or8g24 |
T |
C |
9: 38,989,988 (GRCm39) |
T18A |
possibly damaging |
Het |
| Or9q2 |
A |
T |
19: 13,772,409 (GRCm39) |
C189S |
probably damaging |
Het |
| Parp8 |
T |
C |
13: 117,005,072 (GRCm39) |
H663R |
probably damaging |
Het |
| Pax6 |
T |
C |
2: 105,525,705 (GRCm39) |
S377P |
probably benign |
Het |
| Pi15 |
A |
G |
1: 17,672,990 (GRCm39) |
D63G |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,474,495 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
C |
A |
9: 107,929,288 (GRCm39) |
C1257F |
probably damaging |
Het |
| Rnf185 |
A |
G |
11: 3,382,551 (GRCm39) |
S45P |
possibly damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,788,697 (GRCm39) |
S241P |
possibly damaging |
Het |
| Slfn8 |
G |
A |
11: 82,894,023 (GRCm39) |
A872V |
possibly damaging |
Het |
| Smoc1 |
G |
A |
12: 81,151,547 (GRCm39) |
|
probably null |
Het |
| Sox14 |
A |
T |
9: 99,757,686 (GRCm39) |
W18R |
probably damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,848,969 (GRCm39) |
E1053G |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,294,866 (GRCm39) |
K1246* |
probably null |
Het |
| Tbrg4 |
A |
C |
11: 6,570,909 (GRCm39) |
S188A |
probably benign |
Het |
| Thnsl2 |
A |
T |
6: 71,111,279 (GRCm39) |
D196E |
probably damaging |
Het |
| Tmem266 |
C |
T |
9: 55,288,025 (GRCm39) |
T34I |
probably damaging |
Het |
| Tmem59l |
C |
A |
8: 70,938,748 (GRCm39) |
R111L |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,306,280 (GRCm39) |
|
probably benign |
Het |
| Trpc6 |
T |
C |
9: 8,643,687 (GRCm39) |
S491P |
probably damaging |
Het |
| Tspan10 |
A |
T |
11: 120,336,992 (GRCm39) |
N254I |
probably damaging |
Het |
| Ubox5 |
A |
T |
2: 130,433,814 (GRCm39) |
L511Q |
probably damaging |
Het |
| Vmn1r183 |
TATCCATC |
TATC |
7: 23,754,531 (GRCm39) |
|
probably null |
Het |
| Vmn2r4 |
C |
T |
3: 64,298,397 (GRCm39) |
C577Y |
probably damaging |
Het |
| Vmn2r86 |
A |
T |
10: 130,291,606 (GRCm39) |
M53K |
probably benign |
Het |
| Zfp948 |
T |
A |
17: 21,808,569 (GRCm39) |
I587N |
possibly 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 |
|
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 |
|
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'- CAGACAGCCATTACAAAGTGTG -3'
(R):5'- ACACAGATGCGTACACATTTACG -3'
Sequencing Primer
(F):5'- ACAAAGTGTGGCTACTCCTG -3'
(R):5'- AAAGGGATCAGTTCTCTCCTCCTG -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation