Incidental Mutation 'R4488:Rbm45'
| ID |
330578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm45
|
| Ensembl Gene |
ENSMUSG00000042369 |
| Gene Name |
RNA binding motif protein 45 |
| Synonyms |
G430095G15Rik, Drb1, Drbp1 |
| MMRRC Submission |
041744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R4488 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
76200328-76214112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76206740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 251
(S251P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046389]
|
| AlphaFold |
Q8BHN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046389
AA Change: S251P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040420
Gene: ENSMUSG00000042369
AA Change: S251P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
|
RRM
|
27 |
102 |
2.08e-12 |
SMART |
|
RRM
|
122 |
191 |
1.37e-12 |
SMART |
|
RRM
|
249 |
320 |
2.27e-1 |
SMART |
|
RRM
|
394 |
460 |
4.07e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.3882 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer's patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal1 |
A |
T |
1: 6,429,631 (GRCm39) |
Q26L |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Brox |
A |
G |
1: 183,062,514 (GRCm39) |
L280S |
probably benign |
Het |
| Cep41 |
A |
T |
6: 30,655,688 (GRCm39) |
|
probably benign |
Het |
| Cryz |
C |
A |
3: 154,324,094 (GRCm39) |
|
probably benign |
Het |
| Cyp26c1 |
T |
C |
19: 37,681,658 (GRCm39) |
V487A |
probably benign |
Het |
| Dlx6 |
T |
C |
6: 6,867,207 (GRCm39) |
M270T |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,272,182 (GRCm39) |
I273T |
probably damaging |
Het |
| Glp1r |
A |
C |
17: 31,137,905 (GRCm39) |
H112P |
probably benign |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,556 (GRCm39) |
V175A |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,299,400 (GRCm39) |
T1878I |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,249,396 (GRCm39) |
F1303L |
possibly damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nutf2 |
T |
A |
8: 106,603,059 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Rnaset2b |
A |
G |
17: 7,265,469 (GRCm39) |
Y155C |
probably damaging |
Het |
| Rnf122 |
A |
G |
8: 31,618,283 (GRCm39) |
T92A |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,347,011 (GRCm39) |
S134P |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,036,215 (GRCm39) |
I351F |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Sulf1 |
G |
T |
1: 12,856,739 (GRCm39) |
|
probably benign |
Het |
| Svil |
T |
C |
18: 5,049,067 (GRCm39) |
Y202H |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,737,993 (GRCm39) |
D681G |
possibly damaging |
Het |
| Tra2a |
A |
G |
6: 49,229,428 (GRCm39) |
|
probably benign |
Het |
| Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,819 (GRCm39) |
I841N |
probably damaging |
Het |
| Zfp949 |
T |
C |
9: 88,452,142 (GRCm39) |
S571P |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,431 (GRCm39) |
E571G |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,824,960 (GRCm39) |
T174I |
probably damaging |
Het |
|
| Other mutations in Rbm45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Rbm45
|
APN |
2 |
76,209,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03335:Rbm45
|
APN |
2 |
76,206,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Rbm45
|
UTSW |
2 |
76,208,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Rbm45
|
UTSW |
2 |
76,208,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0382:Rbm45
|
UTSW |
2 |
76,200,555 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1468:Rbm45
|
UTSW |
2 |
76,202,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Rbm45
|
UTSW |
2 |
76,202,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Rbm45
|
UTSW |
2 |
76,202,503 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1942:Rbm45
|
UTSW |
2 |
76,205,823 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2046:Rbm45
|
UTSW |
2 |
76,205,742 (GRCm39) |
missense |
probably benign |
|
|
R2912:Rbm45
|
UTSW |
2 |
76,205,798 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2913:Rbm45
|
UTSW |
2 |
76,205,798 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2929:Rbm45
|
UTSW |
2 |
76,208,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3418:Rbm45
|
UTSW |
2 |
76,209,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3886:Rbm45
|
UTSW |
2 |
76,205,768 (GRCm39) |
missense |
probably benign |
|
|
R3887:Rbm45
|
UTSW |
2 |
76,205,768 (GRCm39) |
missense |
probably benign |
|
|
R3888:Rbm45
|
UTSW |
2 |
76,205,768 (GRCm39) |
missense |
probably benign |
|
|
R5369:Rbm45
|
UTSW |
2 |
76,200,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5990:Rbm45
|
UTSW |
2 |
76,200,756 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6569:Rbm45
|
UTSW |
2 |
76,209,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6806:Rbm45
|
UTSW |
2 |
76,210,804 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7022:Rbm45
|
UTSW |
2 |
76,206,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7832:Rbm45
|
UTSW |
2 |
76,206,797 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8720:Rbm45
|
UTSW |
2 |
76,210,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Rbm45
|
UTSW |
2 |
76,209,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9064:Rbm45
|
UTSW |
2 |
76,202,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAACTTAGGCTCTCCTGAAG -3'
(R):5'- TTCCTGCAGCATAAACAGCATAAG -3'
Sequencing Primer
(F):5'- GTATACGTGTATGAACTCTCAGAGG -3'
(R):5'- ACAGCATAAGAAAGTATCATGTGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation