Incidental Mutation 'R4090:Rbm47'
ID |
317555 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm47
|
Ensembl Gene |
ENSMUSG00000070780 |
Gene Name |
RNA binding motif protein 47 |
Synonyms |
9530077J19Rik |
MMRRC Submission |
040983-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.226)
|
Stock # |
R4090 (G1)
|
Quality Score |
223 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
66173892-66309297 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66180080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 409
(M409T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092348
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094756]
[ENSMUST00000094757]
[ENSMUST00000113724]
[ENSMUST00000113726]
[ENSMUST00000167950]
[ENSMUST00000200775]
[ENSMUST00000200852]
[ENSMUST00000201544]
[ENSMUST00000201561]
[ENSMUST00000202700]
|
AlphaFold |
Q91WT8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094756
AA Change: M409T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000092348 Gene: ENSMUSG00000070780 AA Change: M409T
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: ENSMUST00000094757
AA Change: M478T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000092349 Gene: ENSMUSG00000070780 AA Change: M478T
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: ENSMUST00000113724
AA Change: M478T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000109353 Gene: ENSMUSG00000070780 AA Change: M478T
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: ENSMUST00000113726
AA Change: M478T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000109355 Gene: ENSMUSG00000070780 AA Change: M478T
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: ENSMUST00000167950
AA Change: M478T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000128016 Gene: ENSMUSG00000070780 AA Change: M478T
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: ENSMUST00000200775
AA Change: M478T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144325 Gene: ENSMUSG00000070780 AA Change: M478T
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 benign
Transcript: ENSMUST00000201544
AA Change: M478T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144122 Gene: ENSMUSG00000070780 AA Change: M478T
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: ENSMUST00000201561
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202700
|
Meta Mutation Damage Score |
0.0902 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
96% (53/55) |
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 |
Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,141,378 (GRCm39) |
K268E |
probably damaging |
Het |
Arhgef2 |
G |
C |
3: 88,551,185 (GRCm39) |
R765P |
probably benign |
Het |
Bptf |
T |
C |
11: 106,972,349 (GRCm39) |
K840E |
probably damaging |
Het |
Carf |
A |
G |
1: 60,175,506 (GRCm39) |
R245G |
possibly damaging |
Het |
Cd36 |
A |
G |
5: 17,990,718 (GRCm39) |
|
probably null |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
Cplane1 |
T |
A |
15: 8,241,842 (GRCm39) |
|
probably null |
Het |
Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
Exoc6 |
A |
G |
19: 37,560,360 (GRCm39) |
T126A |
probably benign |
Het |
Fam83f |
A |
T |
15: 80,576,393 (GRCm39) |
N348I |
possibly damaging |
Het |
Gja8 |
A |
G |
3: 96,826,468 (GRCm39) |
V398A |
probably benign |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm12789 |
A |
T |
4: 101,845,526 (GRCm39) |
T72S |
possibly damaging |
Het |
Gm1988 |
A |
G |
7: 38,820,292 (GRCm39) |
|
noncoding transcript |
Het |
Gm21370 |
A |
G |
13: 120,488,489 (GRCm39) |
V20A |
probably benign |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Hsd17b13 |
T |
A |
5: 104,113,720 (GRCm39) |
S245C |
probably benign |
Het |
Htr1f |
T |
C |
16: 64,746,324 (GRCm39) |
K323E |
probably benign |
Het |
Igkc |
T |
C |
6: 70,703,442 (GRCm39) |
|
probably benign |
Het |
Ksr1 |
T |
C |
11: 78,918,303 (GRCm39) |
E535G |
probably damaging |
Het |
Mlxipl |
A |
T |
5: 135,161,381 (GRCm39) |
E433D |
probably benign |
Het |
Npc1 |
T |
C |
18: 12,331,219 (GRCm39) |
|
probably null |
Het |
Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
Or1e29 |
A |
G |
11: 73,667,667 (GRCm39) |
L162P |
probably damaging |
Het |
Or6y1 |
A |
G |
1: 174,276,500 (GRCm39) |
T104A |
probably benign |
Het |
Or7g17 |
T |
C |
9: 18,768,398 (GRCm39) |
I159T |
probably benign |
Het |
Pcdha3 |
A |
G |
18: 37,081,504 (GRCm39) |
R749G |
probably benign |
Het |
Ppme1 |
A |
T |
7: 99,997,044 (GRCm39) |
N122K |
possibly damaging |
Het |
Rasal1 |
G |
A |
5: 120,813,674 (GRCm39) |
V657M |
possibly damaging |
Het |
Rragd |
C |
T |
4: 33,007,155 (GRCm39) |
T161M |
probably damaging |
Het |
Slurp1 |
T |
C |
15: 74,598,724 (GRCm39) |
H89R |
possibly damaging |
Het |
Snap23 |
A |
G |
2: 120,416,061 (GRCm39) |
I42V |
probably benign |
Het |
Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
Taar8a |
T |
A |
10: 23,953,062 (GRCm39) |
V222E |
probably damaging |
Het |
Tmem171 |
A |
T |
13: 98,829,096 (GRCm39) |
V18D |
probably damaging |
Het |
Topors |
T |
C |
4: 40,260,794 (GRCm39) |
D830G |
unknown |
Het |
Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
Tubg1 |
T |
A |
11: 101,015,364 (GRCm39) |
M270K |
possibly damaging |
Het |
Vmn1r188 |
T |
C |
13: 22,272,772 (GRCm39) |
V242A |
probably benign |
Het |
Vmn1r19 |
T |
A |
6: 57,381,720 (GRCm39) |
I91N |
probably damaging |
Het |
Vmn2r12 |
T |
A |
5: 109,239,412 (GRCm39) |
M384L |
probably benign |
Het |
Wdr26 |
T |
C |
1: 181,030,679 (GRCm39) |
E205G |
probably damaging |
Het |
Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
Zfp398 |
T |
A |
6: 47,843,159 (GRCm39) |
C272S |
probably damaging |
Het |
Zfp975 |
A |
G |
7: 42,312,298 (GRCm39) |
V105A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGAGAGAGGCTCCATAGATAAATG -3'
(R):5'- AGTGTAGGGCTGCTAACCTG -3'
Sequencing Primer
(F):5'- GGCTCCATAGATAAATGATAGCAGCC -3'
(R):5'- GGGCTGCTAACCTGGACTTTAAAAC -3'
|
Posted On |
2015-05-15 |