Incidental Mutation 'R6159:Rbm47'
| ID |
489743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm47
|
| Ensembl Gene |
ENSMUSG00000070780 |
| Gene Name |
RNA binding motif protein 47 |
| Synonyms |
9530077J19Rik |
| MMRRC Submission |
044306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R6159 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
66173892-66309297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66184159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 148
(V148A)
|
| 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: V148A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092348
Gene: ENSMUSG00000070780
AA Change: V148A
| 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: V148A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092349
Gene: ENSMUSG00000070780
AA Change: V148A
| 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: V148A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109353
Gene: ENSMUSG00000070780
AA Change: V148A
| 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: V148A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109355
Gene: ENSMUSG00000070780
AA Change: V148A
| 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: V148A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128016
Gene: ENSMUSG00000070780
AA Change: V148A
| 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: V148A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144325
Gene: ENSMUSG00000070780
AA Change: V148A
| 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: V148A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144505
Gene: ENSMUSG00000070780
AA Change: V148A
| 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: V148A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144122
Gene: ENSMUSG00000070780
AA Change: V148A
| 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: ENSMUST00000202700
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201561
|
| Meta Mutation Damage Score |
0.4585 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 94.2%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahcyl2 |
A |
C |
6: 29,908,457 (GRCm39) |
N609T |
possibly damaging |
Het |
| Ankzf1 |
G |
A |
1: 75,170,888 (GRCm39) |
C98Y |
probably damaging |
Het |
| Atg101 |
T |
A |
15: 101,188,519 (GRCm39) |
M208K |
possibly damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,143,930 (GRCm39) |
I388T |
probably benign |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Chrnd |
T |
A |
1: 87,118,812 (GRCm39) |
D56E |
probably benign |
Het |
| Col28a1 |
A |
T |
6: 8,162,247 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
G |
T |
8: 11,270,007 (GRCm39) |
P899Q |
probably damaging |
Het |
| Cts3 |
C |
A |
13: 61,714,655 (GRCm39) |
A217S |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,465,941 (GRCm39) |
N495S |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,349,368 (GRCm39) |
I2423F |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,733,041 (GRCm39) |
H1053R |
probably benign |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,521 (GRCm39) |
A36V |
probably damaging |
Het |
| Fam184a |
G |
A |
10: 53,574,869 (GRCm39) |
L191F |
probably damaging |
Het |
| Fbxl9 |
T |
C |
8: 106,049,925 (GRCm39) |
Y33C |
probably damaging |
Het |
| Fip1l1 |
C |
T |
5: 74,752,608 (GRCm39) |
R472W |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,338,018 (GRCm39) |
F378S |
probably damaging |
Het |
| Ggt1 |
A |
T |
10: 75,420,799 (GRCm39) |
E388V |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,638,050 (GRCm39) |
T375A |
probably benign |
Het |
| Gm43302 |
A |
G |
5: 105,436,894 (GRCm39) |
S71P |
probably benign |
Het |
| Gnrhr |
G |
T |
5: 86,330,216 (GRCm39) |
T268K |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,962,020 (GRCm39) |
V335A |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 160,933,037 (GRCm39) |
L257H |
probably damaging |
Het |
| Med27 |
C |
A |
2: 29,414,376 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
T |
A |
7: 141,369,323 (GRCm39) |
C2433S |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,461,086 (GRCm39) |
|
probably null |
Het |
| Nipal2 |
A |
C |
15: 34,600,172 (GRCm39) |
V215G |
probably damaging |
Het |
| Or10al5 |
A |
T |
17: 38,063,038 (GRCm39) |
I98F |
probably damaging |
Het |
| Or9i1b |
C |
T |
19: 13,897,104 (GRCm39) |
T240I |
probably damaging |
Het |
| Oxct2b |
G |
A |
4: 123,011,244 (GRCm39) |
R388H |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,774,240 (GRCm39) |
I469V |
possibly damaging |
Het |
| Phyhip |
A |
G |
14: 70,704,294 (GRCm39) |
H171R |
possibly damaging |
Het |
| Pigs |
C |
T |
11: 78,219,326 (GRCm39) |
T9M |
probably benign |
Het |
| Plek |
T |
C |
11: 16,935,539 (GRCm39) |
D256G |
probably damaging |
Het |
| Prss50 |
T |
C |
9: 110,693,371 (GRCm39) |
V369A |
probably benign |
Het |
| Psmc5 |
A |
G |
11: 106,152,088 (GRCm39) |
K82E |
possibly damaging |
Het |
| Qrsl1 |
A |
T |
10: 43,758,189 (GRCm39) |
F301L |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,797,673 (GRCm39) |
L135P |
probably damaging |
Het |
| Scyl1 |
T |
A |
19: 5,814,785 (GRCm39) |
D381V |
probably benign |
Het |
| Selplg |
G |
T |
5: 113,957,162 (GRCm39) |
D381E |
probably benign |
Het |
| Sh3rf2 |
C |
A |
18: 42,289,200 (GRCm39) |
Q674K |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,210,659 (GRCm39) |
T987A |
probably benign |
Het |
| Sntb1 |
A |
G |
15: 55,539,698 (GRCm39) |
|
probably null |
Het |
| Synj2 |
A |
T |
17: 6,036,327 (GRCm39) |
I14F |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,926,440 (GRCm39) |
M170K |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,607,096 (GRCm39) |
E211G |
possibly damaging |
Het |
| Thnsl1 |
G |
T |
2: 21,217,016 (GRCm39) |
E257* |
probably null |
Het |
| Tlr4 |
A |
G |
4: 66,758,070 (GRCm39) |
R288G |
possibly damaging |
Het |
| Trbc1 |
T |
C |
6: 41,515,385 (GRCm39) |
|
probably benign |
Het |
| Trim37 |
G |
A |
11: 87,107,374 (GRCm39) |
|
probably null |
Het |
| Txnrd3 |
T |
C |
6: 89,640,176 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
C |
A |
9: 21,021,800 (GRCm39) |
Q875H |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,385,698 (GRCm39) |
Y761H |
probably damaging |
Het |
| Zswim5 |
T |
C |
4: 116,836,876 (GRCm39) |
L720P |
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 |
|
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 |
|
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'- CAGCACGATGGCTCTCATAC -3'
(R):5'- AGGTCTTCGTGGGCAAGATC -3'
Sequencing Primer
(F):5'- GATGGCTCTCATACTCCACAAAGG -3'
(R):5'- TATGAAGATGAGCTGGTGCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation