Incidental Mutation 'R7292:Rbm47'
| ID |
566478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm47
|
| Ensembl Gene |
ENSMUSG00000070780 |
| Gene Name |
RNA binding motif protein 47 |
| Synonyms |
9530077J19Rik |
| MMRRC Submission |
045397-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R7292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
66173892-66309297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66184093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 170
(E170V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094756]
[ENSMUST00000094757]
[ENSMUST00000113724]
[ENSMUST00000113726]
[ENSMUST00000167950]
[ENSMUST00000200775]
[ENSMUST00000200852]
[ENSMUST00000201544]
[ENSMUST00000201561]
[ENSMUST00000202700]
|
| AlphaFold |
Q91WT8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094756
AA Change: E170V
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092348
Gene: ENSMUSG00000070780
AA Change: E170V
| 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 |
possibly damaging
Transcript: ENSMUST00000094757
AA Change: E170V
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000092349
Gene: ENSMUSG00000070780
AA Change: E170V
| 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 |
possibly damaging
Transcript: ENSMUST00000113724
AA Change: E170V
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109353
Gene: ENSMUSG00000070780
AA Change: E170V
| 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 |
possibly damaging
Transcript: ENSMUST00000113726
AA Change: E170V
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109355
Gene: ENSMUSG00000070780
AA Change: E170V
| 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 |
possibly damaging
Transcript: ENSMUST00000167950
AA Change: E170V
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128016
Gene: ENSMUSG00000070780
AA Change: E170V
| 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 |
possibly damaging
Transcript: ENSMUST00000200775
AA Change: E170V
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144325
Gene: ENSMUSG00000070780
AA Change: E170V
| 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 |
possibly damaging
Transcript: ENSMUST00000201544
AA Change: E170V
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144122
Gene: ENSMUSG00000070780
AA Change: E170V
| 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 |
probably benign
Transcript: ENSMUST00000202700
|
| Meta Mutation Damage Score |
0.7495 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (66/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,215,861 (GRCm39) |
C322* |
probably null |
Het |
| 4930553M12Rik |
G |
A |
4: 88,786,568 (GRCm39) |
R17C |
unknown |
Het |
| Abcc8 |
G |
A |
7: 45,784,950 (GRCm39) |
T726I |
probably benign |
Het |
| Adamts18 |
T |
C |
8: 114,436,277 (GRCm39) |
T981A |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,570,957 (GRCm39) |
C507R |
probably damaging |
Het |
| Bloc1s6 |
T |
A |
2: 122,584,615 (GRCm39) |
D63E |
probably damaging |
Het |
| Cdc25b |
C |
T |
2: 131,033,093 (GRCm39) |
R135W |
probably damaging |
Het |
| Cdca2 |
G |
T |
14: 67,915,326 (GRCm39) |
Y644* |
probably null |
Het |
| Ceacam10 |
G |
T |
7: 24,477,775 (GRCm39) |
G97C |
probably damaging |
Het |
| Cenpf |
G |
A |
1: 189,382,891 (GRCm39) |
L2668F |
probably damaging |
Het |
| Cog4 |
A |
G |
8: 111,608,460 (GRCm39) |
D774G |
probably damaging |
Het |
| Col11a2 |
G |
A |
17: 34,270,482 (GRCm39) |
G511E |
unknown |
Het |
| Col19a1 |
T |
A |
1: 24,569,089 (GRCm39) |
I220F |
unknown |
Het |
| Cubn |
G |
T |
2: 13,429,550 (GRCm39) |
T1317K |
probably damaging |
Het |
| Dnaaf5 |
T |
C |
5: 139,136,072 (GRCm39) |
L24P |
unknown |
Het |
| Eif4a3l2 |
G |
A |
6: 116,528,438 (GRCm39) |
R105Q |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Foxn4 |
C |
A |
5: 114,396,716 (GRCm39) |
E256* |
probably null |
Het |
| Gm5930 |
A |
G |
14: 44,574,014 (GRCm39) |
S108P |
probably damaging |
Het |
| Gnl3 |
A |
G |
14: 30,735,189 (GRCm39) |
S468P |
probably benign |
Het |
| Gzmb |
A |
T |
14: 56,499,576 (GRCm39) |
S11T |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,608,880 (GRCm39) |
|
probably null |
Het |
| Ifi206 |
A |
G |
1: 173,301,428 (GRCm39) |
L750P |
unknown |
Het |
| Ifi213 |
T |
A |
1: 173,422,691 (GRCm39) |
E58V |
probably damaging |
Het |
| Igkv4-78 |
A |
T |
6: 69,036,752 (GRCm39) |
Y94N |
probably damaging |
Het |
| Igsf9 |
G |
T |
1: 172,319,324 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
G |
T |
6: 146,060,447 (GRCm39) |
L2490M |
possibly damaging |
Het |
| Kdm2b |
A |
G |
5: 123,018,854 (GRCm39) |
F862S |
probably damaging |
Het |
| Kif19b |
A |
G |
5: 140,457,425 (GRCm39) |
D398G |
probably benign |
Het |
| Meis1 |
A |
G |
11: 18,961,351 (GRCm39) |
I174T |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,835,166 (GRCm39) |
Q507R |
probably benign |
Het |
| Mpp4 |
C |
T |
1: 59,182,969 (GRCm39) |
E313K |
possibly damaging |
Het |
| Nfatc4 |
G |
A |
14: 56,062,512 (GRCm39) |
E7K |
probably damaging |
Het |
| Or7g16 |
A |
T |
9: 18,727,486 (GRCm39) |
Y35N |
probably damaging |
Het |
| Or9s18 |
T |
A |
13: 65,300,656 (GRCm39) |
V206D |
possibly damaging |
Het |
| Osbpl5 |
G |
A |
7: 143,255,015 (GRCm39) |
P470S |
probably damaging |
Het |
| Pak6 |
A |
G |
2: 118,524,072 (GRCm39) |
D409G |
possibly damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,361,986 (GRCm39) |
M553K |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,089,871 (GRCm39) |
N151D |
probably damaging |
Het |
| Prdm12 |
T |
C |
2: 31,533,862 (GRCm39) |
W160R |
probably damaging |
Het |
| Prdm2 |
G |
A |
4: 142,859,471 (GRCm39) |
T1273M |
possibly damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,991,353 (GRCm39) |
|
probably null |
Het |
| Prob1 |
G |
A |
18: 35,787,603 (GRCm39) |
P217L |
possibly damaging |
Het |
| Ramp1 |
A |
C |
1: 91,124,499 (GRCm39) |
H20P |
probably benign |
Het |
| Relch |
G |
T |
1: 105,649,141 (GRCm39) |
|
probably null |
Het |
| Rpn1 |
C |
T |
6: 88,067,066 (GRCm39) |
P142L |
probably damaging |
Het |
| Rsu1 |
C |
T |
2: 13,174,827 (GRCm39) |
R238H |
probably damaging |
Het |
| Sh3rf3 |
C |
T |
10: 58,907,795 (GRCm39) |
P441L |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,650,438 (GRCm39) |
S559G |
possibly damaging |
Het |
| Slc35f5 |
C |
A |
1: 125,500,222 (GRCm39) |
S245R |
probably damaging |
Het |
| Spcs3 |
T |
C |
8: 54,979,554 (GRCm39) |
N76D |
probably benign |
Het |
| Spmip5 |
A |
T |
19: 58,777,539 (GRCm39) |
Y90* |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,111,395 (GRCm39) |
T1075A |
possibly damaging |
Het |
| Sympk |
A |
T |
7: 18,769,955 (GRCm39) |
I211F |
probably benign |
Het |
| Tk1 |
C |
T |
11: 117,716,603 (GRCm39) |
M1I |
probably null |
Het |
| Tln2 |
A |
G |
9: 67,253,743 (GRCm39) |
V776A |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Tnk2 |
T |
C |
16: 32,499,618 (GRCm39) |
V977A |
probably benign |
Het |
| Toporsl |
A |
T |
4: 52,611,630 (GRCm39) |
S508C |
probably benign |
Het |
| Trank1 |
A |
C |
9: 111,206,938 (GRCm39) |
R1690S |
probably benign |
Het |
| Trio |
T |
A |
15: 27,828,437 (GRCm39) |
Q1409L |
possibly damaging |
Het |
| Vit |
T |
C |
17: 78,912,927 (GRCm39) |
F287L |
probably benign |
Het |
| Vmn2r109 |
G |
C |
17: 20,761,700 (GRCm39) |
D552E |
probably benign |
Het |
| Zw10 |
T |
C |
9: 48,972,491 (GRCm39) |
V186A |
probably benign |
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 |
|
R6425:Rbm47
|
UTSW |
5 |
66,180,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCGTCCACGTCAATCTCTGG -3'
(R):5'- TTTCGATGGCAAGAACCGCG -3'
Sequencing Primer
(F):5'- ACGTCAATCTCTGGCTCGG -3'
(R):5'- AAGAACCGCGGCTATGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation