Incidental Mutation 'IGL02456:Rbm47'
ID |
294185 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rbm47
|
Ensembl Gene |
ENSMUSG00000070780 |
Gene Name |
RNA binding motif protein 47 |
Synonyms |
9530077J19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.206)
|
Stock # |
IGL02456
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
66173892-66309297 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 66184364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 80
(R80C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094756]
[ENSMUST00000094757]
[ENSMUST00000113724]
[ENSMUST00000113726]
[ENSMUST00000167950]
[ENSMUST00000200775]
[ENSMUST00000200852]
[ENSMUST00000201544]
[ENSMUST00000202700]
[ENSMUST00000201561]
|
AlphaFold |
Q91WT8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094756
AA Change: R80C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092348 Gene: ENSMUSG00000070780 AA Change: R80C
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
RRM
|
72 |
145 |
7.19e-16 |
SMART |
RRM
|
152 |
229 |
3.74e-5 |
SMART |
RRM
|
247 |
314 |
1.21e-13 |
SMART |
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
low complexity region
|
381 |
397 |
N/A |
INTRINSIC |
low complexity region
|
489 |
502 |
N/A |
INTRINSIC |
low complexity region
|
545 |
554 |
N/A |
INTRINSIC |
low complexity region
|
559 |
570 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094757
AA Change: R80C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092349 Gene: ENSMUSG00000070780 AA Change: R80C
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
RRM
|
72 |
145 |
7.19e-16 |
SMART |
RRM
|
152 |
229 |
3.74e-5 |
SMART |
RRM
|
247 |
314 |
1.21e-13 |
SMART |
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
low complexity region
|
381 |
397 |
N/A |
INTRINSIC |
low complexity region
|
489 |
502 |
N/A |
INTRINSIC |
low complexity region
|
545 |
554 |
N/A |
INTRINSIC |
low complexity region
|
559 |
570 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113724
AA Change: R80C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109353 Gene: ENSMUSG00000070780 AA Change: R80C
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
RRM
|
72 |
145 |
7.19e-16 |
SMART |
RRM
|
152 |
229 |
3.74e-5 |
SMART |
RRM
|
247 |
314 |
1.21e-13 |
SMART |
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
low complexity region
|
381 |
397 |
N/A |
INTRINSIC |
low complexity region
|
489 |
502 |
N/A |
INTRINSIC |
low complexity region
|
545 |
554 |
N/A |
INTRINSIC |
low complexity region
|
559 |
570 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113726
AA Change: R80C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109355 Gene: ENSMUSG00000070780 AA Change: R80C
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
RRM
|
72 |
145 |
7.19e-16 |
SMART |
RRM
|
152 |
229 |
3.74e-5 |
SMART |
RRM
|
247 |
314 |
1.21e-13 |
SMART |
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
low complexity region
|
381 |
397 |
N/A |
INTRINSIC |
low complexity region
|
489 |
502 |
N/A |
INTRINSIC |
low complexity region
|
545 |
554 |
N/A |
INTRINSIC |
low complexity region
|
559 |
570 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167950
AA Change: R80C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128016 Gene: ENSMUSG00000070780 AA Change: R80C
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
RRM
|
72 |
145 |
7.19e-16 |
SMART |
RRM
|
152 |
229 |
3.74e-5 |
SMART |
RRM
|
247 |
314 |
1.21e-13 |
SMART |
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
low complexity region
|
381 |
397 |
N/A |
INTRINSIC |
low complexity region
|
489 |
502 |
N/A |
INTRINSIC |
low complexity region
|
545 |
554 |
N/A |
INTRINSIC |
low complexity region
|
559 |
570 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200775
AA Change: R80C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144325 Gene: ENSMUSG00000070780 AA Change: R80C
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
RRM
|
72 |
145 |
7.19e-16 |
SMART |
RRM
|
152 |
229 |
3.74e-5 |
SMART |
RRM
|
247 |
314 |
1.21e-13 |
SMART |
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
low complexity region
|
381 |
397 |
N/A |
INTRINSIC |
low complexity region
|
489 |
502 |
N/A |
INTRINSIC |
low complexity region
|
545 |
554 |
N/A |
INTRINSIC |
low complexity region
|
559 |
570 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200852
AA Change: R80C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144505 Gene: ENSMUSG00000070780 AA Change: R80C
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
RRM
|
72 |
145 |
7.19e-16 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201544
AA Change: R80C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144122 Gene: ENSMUSG00000070780 AA Change: R80C
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
RRM
|
72 |
145 |
7.19e-16 |
SMART |
RRM
|
152 |
229 |
3.74e-5 |
SMART |
RRM
|
247 |
314 |
1.21e-13 |
SMART |
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
low complexity region
|
381 |
397 |
N/A |
INTRINSIC |
low complexity region
|
489 |
502 |
N/A |
INTRINSIC |
low complexity region
|
545 |
554 |
N/A |
INTRINSIC |
low complexity region
|
559 |
570 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202794
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201311
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202700
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201561
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit partial prenatal lethality. Surviving adults are small and display impaired cytidine to uridine RNA editing. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921511C20Rik |
T |
A |
X: 126,302,584 (GRCm39) |
Y174* |
probably null |
Het |
Apc |
C |
A |
18: 34,446,935 (GRCm39) |
S1243* |
probably null |
Het |
Atp8b5 |
A |
G |
4: 43,365,578 (GRCm39) |
T731A |
probably benign |
Het |
Bcl2a1c |
T |
A |
9: 114,159,458 (GRCm39) |
F79I |
probably damaging |
Het |
Brip1 |
G |
T |
11: 85,955,925 (GRCm39) |
L863I |
possibly damaging |
Het |
Cbx4 |
T |
A |
11: 118,972,938 (GRCm39) |
K146* |
probably null |
Het |
Ces1a |
C |
T |
8: 93,766,126 (GRCm39) |
V163I |
possibly damaging |
Het |
Ces5a |
C |
T |
8: 94,255,272 (GRCm39) |
|
probably benign |
Het |
Cfhr1 |
A |
C |
1: 139,484,131 (GRCm39) |
N128K |
possibly damaging |
Het |
Clcn3 |
T |
C |
8: 61,394,391 (GRCm39) |
D46G |
probably damaging |
Het |
Cntnap1 |
T |
G |
11: 101,068,955 (GRCm39) |
I166S |
probably benign |
Het |
Cntnap3 |
A |
T |
13: 64,946,872 (GRCm39) |
|
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,714,739 (GRCm39) |
|
probably benign |
Het |
Ddx23 |
A |
T |
15: 98,545,430 (GRCm39) |
V626E |
probably damaging |
Het |
Dele1 |
T |
A |
18: 38,394,177 (GRCm39) |
L458Q |
probably damaging |
Het |
Gcm2 |
T |
C |
13: 41,256,477 (GRCm39) |
Y424C |
probably benign |
Het |
Gm9964 |
A |
G |
11: 79,187,196 (GRCm39) |
F84L |
probably damaging |
Het |
Grn |
T |
A |
11: 102,326,930 (GRCm39) |
D509E |
probably benign |
Het |
Iho1 |
G |
T |
9: 108,283,820 (GRCm39) |
T208K |
probably benign |
Het |
Kdm5c |
G |
A |
X: 151,029,314 (GRCm39) |
D343N |
probably damaging |
Het |
Ly75 |
C |
T |
2: 60,124,125 (GRCm39) |
M1717I |
probably benign |
Het |
Map1a |
C |
A |
2: 121,129,134 (GRCm39) |
P133T |
probably damaging |
Het |
Mpp2 |
C |
A |
11: 101,950,199 (GRCm39) |
A552S |
possibly damaging |
Het |
Mtr |
T |
C |
13: 12,213,980 (GRCm39) |
I897M |
probably damaging |
Het |
Npas3 |
A |
T |
12: 54,095,550 (GRCm39) |
I337F |
probably damaging |
Het |
Nup85 |
T |
C |
11: 115,472,691 (GRCm39) |
|
probably benign |
Het |
Or10a49 |
A |
G |
7: 108,468,257 (GRCm39) |
Y35H |
probably benign |
Het |
Or10al2 |
T |
A |
17: 37,983,340 (GRCm39) |
M142K |
possibly damaging |
Het |
Or2t46 |
T |
A |
11: 58,472,024 (GRCm39) |
L118H |
possibly damaging |
Het |
Or51l4 |
T |
A |
7: 103,404,700 (GRCm39) |
I31F |
possibly damaging |
Het |
Or56a5 |
T |
C |
7: 104,792,966 (GRCm39) |
N178S |
probably damaging |
Het |
Pdia4 |
A |
T |
6: 47,780,429 (GRCm39) |
D301E |
probably benign |
Het |
Phf2 |
C |
A |
13: 48,982,322 (GRCm39) |
G134C |
unknown |
Het |
Polr2h |
T |
A |
16: 20,539,352 (GRCm39) |
L76H |
probably damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,507,837 (GRCm39) |
S286P |
probably damaging |
Het |
Slc5a12 |
T |
C |
2: 110,447,179 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
T |
C |
7: 130,227,991 (GRCm39) |
S1559P |
probably benign |
Het |
Tbc1d16 |
T |
G |
11: 119,101,372 (GRCm39) |
H46P |
probably damaging |
Het |
Tbck |
A |
G |
3: 132,440,475 (GRCm39) |
|
probably benign |
Het |
Tmtc4 |
A |
T |
14: 123,163,374 (GRCm39) |
|
probably null |
Het |
Ttc13 |
T |
C |
8: 125,417,100 (GRCm39) |
|
probably null |
Het |
Ttc17 |
T |
C |
2: 94,193,130 (GRCm39) |
|
probably benign |
Het |
Vmn1r121 |
T |
A |
7: 20,832,438 (GRCm39) |
M1L |
possibly damaging |
Het |
Vps13c |
T |
C |
9: 67,860,258 (GRCm39) |
S2825P |
probably damaging |
Het |
Zan |
A |
C |
5: 137,445,106 (GRCm39) |
S1718A |
unknown |
Het |
Zfp39 |
G |
T |
11: 58,793,626 (GRCm39) |
Y37* |
probably null |
Het |
Zfp407 |
T |
C |
18: 84,576,766 (GRCm39) |
N1449S |
probably damaging |
Het |
Zhx2 |
C |
A |
15: 57,687,035 (GRCm39) |
D801E |
possibly damaging |
Het |
|
Other mutations in Rbm47 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00976:Rbm47
|
APN |
5 |
66,184,081 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL01648:Rbm47
|
APN |
5 |
66,182,321 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL02323:Rbm47
|
APN |
5 |
66,183,772 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03329:Rbm47
|
APN |
5 |
66,184,036 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4402001:Rbm47
|
UTSW |
5 |
66,184,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Rbm47
|
UTSW |
5 |
66,183,872 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1575:Rbm47
|
UTSW |
5 |
66,182,358 (GRCm39) |
missense |
probably benign |
0.00 |
R1587:Rbm47
|
UTSW |
5 |
66,182,334 (GRCm39) |
missense |
probably benign |
0.23 |
R1645:Rbm47
|
UTSW |
5 |
66,184,481 (GRCm39) |
missense |
probably benign |
0.44 |
R1750:Rbm47
|
UTSW |
5 |
66,176,653 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4085:Rbm47
|
UTSW |
5 |
66,180,080 (GRCm39) |
missense |
probably benign |
0.05 |
R4087:Rbm47
|
UTSW |
5 |
66,180,080 (GRCm39) |
missense |
probably benign |
0.05 |
R4090:Rbm47
|
UTSW |
5 |
66,180,080 (GRCm39) |
missense |
probably benign |
0.05 |
R4280:Rbm47
|
UTSW |
5 |
66,183,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R4714:Rbm47
|
UTSW |
5 |
66,182,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R4744:Rbm47
|
UTSW |
5 |
66,184,036 (GRCm39) |
missense |
probably damaging |
0.98 |
R4807:Rbm47
|
UTSW |
5 |
66,176,647 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5453:Rbm47
|
UTSW |
5 |
66,184,525 (GRCm39) |
missense |
probably benign |
0.07 |
R6090:Rbm47
|
UTSW |
5 |
66,183,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R6091:Rbm47
|
UTSW |
5 |
66,183,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R6136:Rbm47
|
UTSW |
5 |
66,183,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R6137:Rbm47
|
UTSW |
5 |
66,183,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R6159:Rbm47
|
UTSW |
5 |
66,184,159 (GRCm39) |
missense |
probably damaging |
0.99 |
R6181:Rbm47
|
UTSW |
5 |
66,183,833 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6425:Rbm47
|
UTSW |
5 |
66,180,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R7292:Rbm47
|
UTSW |
5 |
66,184,093 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7332:Rbm47
|
UTSW |
5 |
66,183,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R7405:Rbm47
|
UTSW |
5 |
66,183,838 (GRCm39) |
missense |
probably damaging |
0.98 |
R8114:Rbm47
|
UTSW |
5 |
66,184,196 (GRCm39) |
missense |
probably benign |
0.00 |
R8348:Rbm47
|
UTSW |
5 |
66,184,573 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8448:Rbm47
|
UTSW |
5 |
66,184,573 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8674:Rbm47
|
UTSW |
5 |
66,176,742 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9339:Rbm47
|
UTSW |
5 |
66,183,826 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9580:Rbm47
|
UTSW |
5 |
66,183,877 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9686:Rbm47
|
UTSW |
5 |
66,179,969 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Rbm47
|
UTSW |
5 |
66,184,322 (GRCm39) |
missense |
probably benign |
0.30 |
Z1176:Rbm47
|
UTSW |
5 |
66,180,015 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2015-04-16 |