Incidental Mutation 'IGL00851:Rbm48'
| ID |
13787 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm48
|
| Ensembl Gene |
ENSMUSG00000040302 |
| Gene Name |
RNA binding motif protein 48 |
| Synonyms |
C030048B08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
IGL00851
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
3633980-3646091 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3641739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 169
(T169A)
|
| 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 |
probably damaging
Transcript: ENSMUST00000042753
AA Change: T169A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040952
Gene: ENSMUSG00000040302
AA Change: T169A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112547
Gene: ENSMUSG00000040302
| 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 |
probably benign
Transcript: ENSMUST00000176000
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,939,230 (GRCm39) |
F208S |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,710,663 (GRCm39) |
I396T |
probably damaging |
Het |
| Atp9b |
T |
G |
18: 80,809,125 (GRCm39) |
E215A |
probably damaging |
Het |
| Ces1c |
T |
A |
8: 93,849,745 (GRCm39) |
I70F |
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,461,006 (GRCm39) |
Y681H |
probably benign |
Het |
| Diaph2 |
A |
G |
X: 128,872,296 (GRCm39) |
K631R |
unknown |
Het |
| Gprasp2 |
A |
G |
X: 134,744,500 (GRCm39) |
T620A |
probably damaging |
Het |
| Hgd |
C |
T |
16: 37,452,057 (GRCm39) |
S403F |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,458,052 (GRCm39) |
K5245E |
probably benign |
Het |
| Kng2 |
T |
C |
16: 22,847,580 (GRCm39) |
D27G |
probably damaging |
Het |
| Myh1 |
C |
T |
11: 67,108,736 (GRCm39) |
T1384M |
probably damaging |
Het |
| Myo1f |
A |
T |
17: 33,800,938 (GRCm39) |
M260L |
probably benign |
Het |
| Plcb2 |
A |
G |
2: 118,558,732 (GRCm39) |
I24T |
probably benign |
Het |
| Prdx1 |
C |
T |
4: 116,550,147 (GRCm39) |
R110C |
probably benign |
Het |
| Ptges3l |
T |
C |
11: 101,314,616 (GRCm39) |
E93G |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,756,360 (GRCm39) |
D1126G |
possibly damaging |
Het |
| Serpinb3b |
T |
A |
1: 107,087,435 (GRCm39) |
N25Y |
probably damaging |
Het |
| Tekt3 |
T |
C |
11: 62,961,226 (GRCm39) |
Y132H |
probably benign |
Het |
| Tmod4 |
A |
T |
3: 95,032,891 (GRCm39) |
E9V |
probably damaging |
Het |
|
| Other mutations in Rbm48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3029:Rbm48
|
UTSW |
5 |
3,646,043 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
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 |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation