Incidental Mutation 'R6425:Rbm47'
| ID |
518286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm47
|
| Ensembl Gene |
ENSMUSG00000070780 |
| Gene Name |
RNA binding motif protein 47 |
| Synonyms |
9530077J19Rik |
| MMRRC Submission |
044564-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R6425 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
66173892-66309297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66180159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 452
(G452S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094756]
[ENSMUST00000094757]
[ENSMUST00000113724]
[ENSMUST00000113726]
[ENSMUST00000167950]
[ENSMUST00000200775]
[ENSMUST00000200852]
[ENSMUST00000201544]
[ENSMUST00000201561]
[ENSMUST00000202700]
|
| AlphaFold |
Q91WT8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094756
AA Change: G383S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092348
Gene: ENSMUSG00000070780
AA Change: G383S
| 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: G452S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092349
Gene: ENSMUSG00000070780
AA Change: G452S
| 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: G452S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109353
Gene: ENSMUSG00000070780
AA Change: G452S
| 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: G452S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109355
Gene: ENSMUSG00000070780
AA Change: G452S
| 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: G452S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128016
Gene: ENSMUSG00000070780
AA Change: G452S
| 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: G452S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144325
Gene: ENSMUSG00000070780
AA Change: G452S
| 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 benign
Transcript: ENSMUST00000200852
|
| SMART Domains |
Protein: ENSMUSP00000144505
Gene: ENSMUSG00000070780
| 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: G452S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144122
Gene: ENSMUSG00000070780
AA Change: G452S
| 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 benign
Transcript: ENSMUST00000201561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201311
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202794
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,220,058 (GRCm39) |
T3A |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,891,087 (GRCm39) |
T989A |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,790,194 (GRCm39) |
L459Q |
probably damaging |
Het |
| Atp6v0a4 |
A |
T |
6: 38,027,446 (GRCm39) |
V788D |
possibly damaging |
Het |
| Auh |
G |
A |
13: 52,995,080 (GRCm39) |
R162C |
probably damaging |
Het |
| Begain |
C |
A |
12: 108,999,320 (GRCm39) |
G689C |
probably damaging |
Het |
| Brcc3dc |
A |
C |
10: 108,535,757 (GRCm39) |
M66R |
possibly damaging |
Het |
| Cd300lg |
T |
C |
11: 101,937,749 (GRCm39) |
F193S |
probably benign |
Het |
| Cenpf |
T |
G |
1: 189,392,095 (GRCm39) |
N579T |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,966,868 (GRCm39) |
H273R |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,576,064 (GRCm39) |
T2099A |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,765,110 (GRCm39) |
K1701E |
possibly damaging |
Het |
| Dtl |
T |
C |
1: 191,278,735 (GRCm39) |
I376V |
probably benign |
Het |
| F830045P16Rik |
C |
A |
2: 129,302,500 (GRCm39) |
C364F |
probably damaging |
Het |
| Fancl |
C |
T |
11: 26,349,680 (GRCm39) |
L63F |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,763,624 (GRCm39) |
L1509* |
probably null |
Het |
| Glyr1 |
A |
T |
16: 4,854,350 (GRCm39) |
|
probably null |
Het |
| Igkv6-32 |
A |
T |
6: 70,051,284 (GRCm39) |
M24K |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Klhl18 |
T |
C |
9: 110,275,749 (GRCm39) |
E133G |
possibly damaging |
Het |
| Lgals4 |
A |
T |
7: 28,533,885 (GRCm39) |
K20* |
probably null |
Het |
| Myo9b |
A |
G |
8: 71,786,272 (GRCm39) |
D646G |
probably damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,435,528 (GRCm39) |
L498P |
possibly damaging |
Het |
| Pcdhgb4 |
T |
C |
18: 37,854,640 (GRCm39) |
V345A |
possibly damaging |
Het |
| Pdc |
T |
C |
1: 150,209,123 (GRCm39) |
V202A |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,881,897 (GRCm39) |
I929M |
probably benign |
Het |
| Plxna1 |
G |
T |
6: 89,311,647 (GRCm39) |
R953S |
probably benign |
Het |
| Pnpla5 |
T |
C |
15: 84,006,836 (GRCm39) |
|
probably null |
Het |
| Psmd1 |
T |
C |
1: 85,998,350 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
A |
5: 22,116,018 (GRCm39) |
Q2997* |
probably null |
Het |
| Rrn3 |
A |
G |
16: 13,629,465 (GRCm39) |
T594A |
probably benign |
Het |
| Slc25a35 |
G |
A |
11: 68,859,591 (GRCm39) |
A35T |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,484 (GRCm39) |
V43A |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,752,746 (GRCm39) |
|
probably null |
Het |
| Tbk1 |
A |
G |
10: 121,399,867 (GRCm39) |
M319T |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,630,329 (GRCm39) |
M622K |
possibly damaging |
Het |
| Tshz1 |
A |
T |
18: 84,033,688 (GRCm39) |
F240Y |
probably damaging |
Het |
| Ube2b |
A |
T |
11: 51,882,244 (GRCm39) |
L73* |
probably null |
Het |
| Vipas39 |
A |
G |
12: 87,288,063 (GRCm39) |
V449A |
probably damaging |
Het |
| Zfp870 |
T |
C |
17: 33,102,045 (GRCm39) |
N429S |
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 |
|
IGL02456:Rbm47
|
APN |
5 |
66,184,364 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTACCTGGAAAGGTGGCG -3'
(R):5'- CCTCACTGGAAATGCTCCTG -3'
Sequencing Primer
(F):5'- AAGGTGGCGGTGTGGATACC -3'
(R):5'- AAATGCTCCTGCCGCAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation