Incidental Mutation 'R3029:Rbm48'
| ID |
265902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm48
|
| Ensembl Gene |
ENSMUSG00000040302 |
| Gene Name |
RNA binding motif protein 48 |
| Synonyms |
C030048B08Rik |
| MMRRC Submission |
040545-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R3029 (G1)
|
| Quality Score |
182 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
3633980-3646091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3646043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 54
(F54I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000042753]
[ENSMUST00000121291]
[ENSMUST00000121877]
[ENSMUST00000142516]
[ENSMUST00000195894]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006061
|
| SMART Domains |
Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEX-2N
|
14 |
99 |
2.4e-53 |
PFAM |
|
Pfam:PEX-1N
|
103 |
179 |
8.6e-27 |
PFAM |
|
low complexity region
|
508 |
527 |
N/A |
INTRINSIC |
|
AAA
|
552 |
702 |
1.39e-10 |
SMART |
|
low complexity region
|
754 |
765 |
N/A |
INTRINSIC |
|
AAA
|
834 |
970 |
4.07e-17 |
SMART |
|
low complexity region
|
1024 |
1044 |
N/A |
INTRINSIC |
|
low complexity region
|
1051 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1065 |
1078 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042753
AA Change: F54I
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000040952
Gene: ENSMUSG00000040302
AA Change: F54I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_5
|
104 |
164 |
6.5e-11 |
PFAM |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121291
|
| SMART Domains |
Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEX-2N
|
17 |
98 |
8.7e-38 |
PFAM |
|
Pfam:PEX-1N
|
104 |
179 |
1.4e-27 |
PFAM |
|
low complexity region
|
548 |
567 |
N/A |
INTRINSIC |
|
AAA
|
592 |
742 |
1.39e-10 |
SMART |
|
low complexity region
|
794 |
805 |
N/A |
INTRINSIC |
|
AAA
|
874 |
1010 |
4.07e-17 |
SMART |
|
low complexity region
|
1064 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1091 |
1101 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121877
AA Change: F54I
PolyPhen 2
Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112547
Gene: ENSMUSG00000040302
AA Change: F54I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM
|
52 |
106 |
1e-18 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135809
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142516
|
| SMART Domains |
Protein: ENSMUSP00000116474
Gene: ENSMUSG00000005907
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1WLF|A
|
1 |
21 |
5e-8 |
PDB |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176000
AA Change: F6I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195894
|
| SMART Domains |
Protein: ENSMUSP00000142620
Gene: ENSMUSG00000005907
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEX-2N
|
14 |
99 |
2.5e-51 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
A |
G |
1: 85,645,966 (GRCm39) |
I213T |
probably benign |
Het |
| Atp8a2 |
CGT |
CGTGT |
14: 59,928,914 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdk6 |
G |
A |
5: 3,440,817 (GRCm39) |
|
probably null |
Het |
| Cryab |
T |
A |
9: 50,667,638 (GRCm39) |
I124N |
probably damaging |
Het |
| E2f5 |
A |
G |
3: 14,668,725 (GRCm39) |
I206V |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,999,776 (GRCm39) |
T396A |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,175,535 (GRCm39) |
Y1726C |
probably damaging |
Het |
| Gad1 |
G |
A |
2: 70,425,034 (GRCm39) |
V443I |
probably benign |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Ighv7-2 |
A |
G |
12: 113,876,100 (GRCm39) |
F2L |
probably benign |
Het |
| Itgad |
T |
A |
7: 127,777,543 (GRCm39) |
I141N |
possibly damaging |
Het |
| Kcnh1 |
C |
T |
1: 192,188,368 (GRCm39) |
T970M |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
T |
A |
11: 71,014,456 (GRCm39) |
T265S |
probably damaging |
Het |
| Nsun4 |
A |
G |
4: 115,909,922 (GRCm39) |
S213P |
possibly damaging |
Het |
| Pkdrej |
C |
T |
15: 85,701,205 (GRCm39) |
R1577Q |
probably benign |
Het |
| Proz |
A |
T |
8: 13,111,042 (GRCm39) |
I5F |
probably benign |
Het |
| Rgs20 |
T |
C |
1: 5,140,276 (GRCm39) |
D42G |
probably benign |
Het |
| Rxfp2 |
A |
C |
5: 149,966,595 (GRCm39) |
D111A |
probably benign |
Het |
| Sparcl1 |
T |
C |
5: 104,241,092 (GRCm39) |
T111A |
possibly damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,776 (GRCm39) |
L713F |
probably damaging |
Het |
|
| Other mutations in Rbm48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00851:Rbm48
|
APN |
5 |
3,641,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01085:Rbm48
|
APN |
5 |
3,634,762 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02605:Rbm48
|
APN |
5 |
3,640,600 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0811:Rbm48
|
UTSW |
5 |
3,641,760 (GRCm39) |
splice site |
probably null |
|
|
R0812:Rbm48
|
UTSW |
5 |
3,641,760 (GRCm39) |
splice site |
probably null |
|
|
R0862:Rbm48
|
UTSW |
5 |
3,640,438 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1866:Rbm48
|
UTSW |
5 |
3,645,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1876:Rbm48
|
UTSW |
5 |
3,645,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3159:Rbm48
|
UTSW |
5 |
3,646,105 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4385:Rbm48
|
UTSW |
5 |
3,640,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Rbm48
|
UTSW |
5 |
3,641,853 (GRCm39) |
unclassified |
probably benign |
|
|
R5176:Rbm48
|
UTSW |
5 |
3,645,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5276:Rbm48
|
UTSW |
5 |
3,634,759 (GRCm39) |
missense |
probably benign |
|
|
R6812:Rbm48
|
UTSW |
5 |
3,646,105 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7059:Rbm48
|
UTSW |
5 |
3,640,625 (GRCm39) |
nonsense |
probably null |
|
|
R7993:Rbm48
|
UTSW |
5 |
3,640,470 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8994:Rbm48
|
UTSW |
5 |
3,640,795 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATAACCTTTGGTACCGGGG -3'
(R):5'- CTCTCAGGAGATGATCGTCGATG -3'
Sequencing Primer
(F):5'- GATGGATCTCACAACATCCCTG -3'
(R):5'- ATGGGGTCGATCCTTCAGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation