Incidental Mutation 'IGL03335:Rbm45'
| ID |
416998 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm45
|
| Ensembl Gene |
ENSMUSG00000042369 |
| Gene Name |
RNA binding motif protein 45 |
| Synonyms |
G430095G15Rik, Drb1, Drbp1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
IGL03335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
76200328-76214112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76206777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 263
(L263P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046389]
|
| AlphaFold |
Q8BHN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046389
AA Change: L263P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040420
Gene: ENSMUSG00000042369
AA Change: L263P
| 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 |
|
| 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 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,985,258 (GRCm39) |
V713A |
probably benign |
Het |
| Abtb3 |
A |
T |
10: 85,494,222 (GRCm39) |
|
probably benign |
Het |
| Actr8 |
T |
C |
14: 29,700,514 (GRCm39) |
V31A |
probably benign |
Het |
| Alcam |
A |
C |
16: 52,111,366 (GRCm39) |
Y244* |
probably null |
Het |
| Ankrd24 |
A |
G |
10: 81,482,967 (GRCm39) |
S972G |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,115,319 (GRCm39) |
V768E |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,661 (GRCm39) |
I1212V |
probably benign |
Het |
| Catsper1 |
C |
T |
19: 5,386,339 (GRCm39) |
R191C |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,949,386 (GRCm39) |
V57D |
probably benign |
Het |
| Cpsf3 |
T |
C |
12: 21,356,888 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,365,140 (GRCm39) |
S1633P |
probably damaging |
Het |
| Dsg1c |
G |
A |
18: 20,416,754 (GRCm39) |
R885Q |
probably benign |
Het |
| Egfl6 |
C |
A |
X: 165,321,689 (GRCm39) |
G272W |
probably damaging |
Het |
| Ermard |
T |
C |
17: 15,279,668 (GRCm39) |
L486P |
probably damaging |
Het |
| F13b |
A |
T |
1: 139,450,124 (GRCm39) |
L595F |
probably damaging |
Het |
| Foxm1 |
A |
G |
6: 128,349,531 (GRCm39) |
N350S |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,881,803 (GRCm39) |
|
probably benign |
Het |
| Gpr152 |
C |
A |
19: 4,193,770 (GRCm39) |
T437N |
possibly damaging |
Het |
| Icmt |
T |
A |
4: 152,385,154 (GRCm39) |
Y205* |
probably null |
Het |
| Ints8 |
A |
T |
4: 11,216,460 (GRCm39) |
F844I |
probably damaging |
Het |
| Mep1a |
T |
A |
17: 43,788,064 (GRCm39) |
D664V |
possibly damaging |
Het |
| Muc4 |
T |
A |
16: 32,574,449 (GRCm39) |
N966K |
probably benign |
Het |
| Myo7b |
T |
A |
18: 32,118,073 (GRCm39) |
Q851L |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,850 (GRCm39) |
H2095R |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,639,366 (GRCm39) |
L4P |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,329,947 (GRCm39) |
N166K |
probably benign |
Het |
| Qrfprl |
T |
C |
6: 65,430,101 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
G |
3: 79,006,492 (GRCm39) |
M137T |
probably damaging |
Het |
| Rbm15b |
G |
A |
9: 106,761,538 (GRCm39) |
H877Y |
probably damaging |
Het |
| Rprd1b |
T |
C |
2: 157,916,884 (GRCm39) |
V288A |
probably damaging |
Het |
| Tmtc3 |
C |
A |
10: 100,302,116 (GRCm39) |
V278L |
probably damaging |
Het |
| Tomm70a |
A |
G |
16: 56,970,289 (GRCm39) |
T556A |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 57,035,504 (GRCm39) |
E143G |
probably damaging |
Het |
| Trpm3 |
G |
T |
19: 22,903,435 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
T |
C |
5: 87,054,499 (GRCm39) |
E94G |
probably benign |
Het |
| Vmn1r174 |
T |
C |
7: 23,453,937 (GRCm39) |
V201A |
probably benign |
Het |
| Zfp352 |
T |
C |
4: 90,112,583 (GRCm39) |
F241S |
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 |
|
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 |
|
|
R4488:Rbm45
|
UTSW |
2 |
76,206,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation