Incidental Mutation 'R6091:Rbm47'
ID |
485915 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm47
|
Ensembl Gene |
ENSMUSG00000070780 |
Gene Name |
RNA binding motif protein 47 |
Synonyms |
9530077J19Rik |
MMRRC Submission |
044248-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.206)
|
Stock # |
R6091 (G1)
|
Quality Score |
174.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
66173892-66309297 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 66183626 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 326
(R326G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094756]
[ENSMUST00000094757]
[ENSMUST00000113724]
[ENSMUST00000113726]
[ENSMUST00000167950]
[ENSMUST00000200775]
[ENSMUST00000201544]
[ENSMUST00000200852]
[ENSMUST00000202700]
[ENSMUST00000201561]
|
AlphaFold |
Q91WT8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094756
AA Change: R326G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000092348 Gene: ENSMUSG00000070780 AA Change: R326G
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: R326G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000092349 Gene: ENSMUSG00000070780 AA Change: R326G
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: R326G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000109353 Gene: ENSMUSG00000070780 AA Change: R326G
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: R326G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000109355 Gene: ENSMUSG00000070780 AA Change: R326G
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: R326G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000128016 Gene: ENSMUSG00000070780 AA Change: R326G
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: R326G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000144325 Gene: ENSMUSG00000070780 AA Change: R326G
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: ENSMUST00000201544
AA Change: R326G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000144122 Gene: ENSMUSG00000070780 AA Change: R326G
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: ENSMUST00000201311
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202794
|
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 benign
Transcript: ENSMUST00000202700
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201561
|
Meta Mutation Damage Score |
0.4376 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
Validation Efficiency |
96% (54/56) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
T |
G |
2: 35,252,348 (GRCm39) |
T50P |
possibly damaging |
Het |
Adad1 |
A |
G |
3: 37,139,118 (GRCm39) |
E396G |
possibly damaging |
Het |
Adamtsl3 |
T |
A |
7: 82,114,829 (GRCm39) |
C232S |
probably damaging |
Het |
AI606181 |
T |
C |
19: 41,582,063 (GRCm39) |
S78P |
unknown |
Het |
Amph |
T |
A |
13: 19,309,293 (GRCm39) |
M457K |
probably benign |
Het |
Ano1 |
A |
T |
7: 144,223,171 (GRCm39) |
M174K |
probably benign |
Het |
C3 |
T |
A |
17: 57,528,967 (GRCm39) |
K632* |
probably null |
Het |
Cep170 |
C |
T |
1: 176,583,397 (GRCm39) |
G994D |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,751,875 (GRCm39) |
V124A |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,761,691 (GRCm39) |
K2259E |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,784,402 (GRCm39) |
T137A |
unknown |
Het |
Dcc |
C |
T |
18: 71,942,185 (GRCm39) |
V311I |
probably benign |
Het |
Ddx42 |
A |
T |
11: 106,125,796 (GRCm39) |
Q282L |
probably damaging |
Het |
Fcgbp |
A |
G |
7: 27,804,390 (GRCm39) |
T1833A |
possibly damaging |
Het |
Fpr-rs3 |
A |
G |
17: 20,844,532 (GRCm39) |
I203T |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,818,796 (GRCm39) |
I2139T |
probably benign |
Het |
Frmpd2 |
T |
C |
14: 33,244,820 (GRCm39) |
V546A |
probably damaging |
Het |
Gbp11 |
G |
T |
5: 105,479,254 (GRCm39) |
T123N |
possibly damaging |
Het |
Hs3st1 |
G |
A |
5: 39,772,007 (GRCm39) |
P212L |
probably damaging |
Het |
Ifnb1 |
T |
A |
4: 88,440,813 (GRCm39) |
M67L |
probably benign |
Het |
Ighv1-54 |
T |
C |
12: 115,157,497 (GRCm39) |
N50S |
probably benign |
Het |
Ikzf4 |
G |
A |
10: 128,470,542 (GRCm39) |
T326I |
probably benign |
Het |
Ints2 |
A |
T |
11: 86,127,429 (GRCm39) |
V501E |
probably damaging |
Het |
Mfsd1 |
C |
A |
3: 67,507,270 (GRCm39) |
|
probably null |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Mrps11 |
G |
A |
7: 78,438,466 (GRCm39) |
A73T |
possibly damaging |
Het |
Mterf4 |
T |
C |
1: 93,229,291 (GRCm39) |
E311G |
probably damaging |
Het |
Mx2 |
A |
G |
16: 97,347,635 (GRCm39) |
T176A |
probably damaging |
Het |
Mycbp2 |
A |
C |
14: 103,460,482 (GRCm39) |
L1495R |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,069,113 (GRCm39) |
T451A |
probably benign |
Het |
Myrfl |
T |
C |
10: 116,685,111 (GRCm39) |
T90A |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,220,715 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,310,443 (GRCm39) |
L201P |
probably damaging |
Het |
Nfxl1 |
G |
T |
5: 72,671,533 (GRCm39) |
L909I |
probably benign |
Het |
Nr3c1 |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
18: 39,620,011 (GRCm39) |
|
probably benign |
Het |
Or5aq1b |
T |
A |
2: 86,901,705 (GRCm39) |
S258C |
probably benign |
Het |
Plscr5 |
A |
G |
9: 92,086,437 (GRCm39) |
T136A |
probably benign |
Het |
Ppp1r3a |
G |
A |
6: 14,719,339 (GRCm39) |
T525I |
probably benign |
Het |
Ptprg |
G |
A |
14: 12,215,979 (GRCm38) |
G1143R |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,771,398 (GRCm39) |
T2541A |
probably benign |
Het |
Sall1 |
A |
G |
8: 89,755,247 (GRCm39) |
L1244P |
probably damaging |
Het |
Sec16a |
G |
A |
2: 26,316,482 (GRCm39) |
H1673Y |
probably damaging |
Het |
Slc22a19 |
A |
G |
19: 7,688,428 (GRCm39) |
I44T |
probably benign |
Het |
Snap91 |
T |
A |
9: 86,721,681 (GRCm39) |
N53Y |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,276,539 (GRCm39) |
T338A |
possibly damaging |
Het |
Taf6l |
T |
C |
19: 8,755,920 (GRCm39) |
T243A |
probably benign |
Het |
Tex10 |
T |
C |
4: 48,459,891 (GRCm39) |
R487G |
probably damaging |
Het |
Tfcp2 |
G |
T |
15: 100,410,194 (GRCm39) |
T391N |
probably damaging |
Het |
Tnxb |
G |
A |
17: 34,929,338 (GRCm39) |
V2794M |
probably damaging |
Het |
Ush2a |
T |
G |
1: 188,132,000 (GRCm39) |
C741G |
probably damaging |
Het |
Vmn1r3 |
T |
A |
4: 3,184,684 (GRCm39) |
I208F |
probably damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,496,790 (GRCm39) |
I21F |
possibly damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,545,958 (GRCm39) |
D610G |
probably benign |
Het |
Wbp1 |
T |
C |
6: 83,096,468 (GRCm39) |
S229G |
probably benign |
Het |
Xirp1 |
A |
G |
9: 119,847,029 (GRCm39) |
V618A |
probably benign |
Het |
Zbtb32 |
A |
G |
7: 30,291,254 (GRCm39) |
S14P |
possibly damaging |
Het |
Zfp24 |
A |
G |
18: 24,147,269 (GRCm39) |
S348P |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCAATCTAACACCCTTGTCTAG -3'
(R):5'- GAGCTTTGGCCAGTTCAACC -3'
Sequencing Primer
(F):5'- CTTGTCTAGGGGGCTGGACAC -3'
(R):5'- AGTTCAACCCAGGCTGCG -3'
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Posted On |
2017-08-16 |