Incidental Mutation 'R8674:Rbm47'
| ID |
661295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm47
|
| Ensembl Gene |
ENSMUSG00000070780 |
| Gene Name |
RNA binding motif protein 47 |
| Synonyms |
9530077J19Rik |
| MMRRC Submission |
068529-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R8674 (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 66176742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 527
(N527I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094756]
[ENSMUST00000094757]
[ENSMUST00000113724]
[ENSMUST00000113726]
[ENSMUST00000167950]
[ENSMUST00000200775]
[ENSMUST00000201544]
|
| AlphaFold |
Q91WT8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094756
AA Change: N458I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000092348
Gene: ENSMUSG00000070780
AA Change: N458I
| 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: N527I
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092349
Gene: ENSMUSG00000070780
AA Change: N527I
| 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: N527I
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109353
Gene: ENSMUSG00000070780
AA Change: N527I
| 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: N527I
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109355
Gene: ENSMUSG00000070780
AA Change: N527I
| 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: N527I
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128016
Gene: ENSMUSG00000070780
AA Change: N527I
| 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: N527I
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144325
Gene: ENSMUSG00000070780
AA Change: N527I
| 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: ENSMUST00000201544
AA Change: N527I
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144122
Gene: ENSMUSG00000070780
AA Change: N527I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (38/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
C |
12: 72,956,696 (GRCm39) |
I165V |
probably benign |
Het |
| Adgrg1 |
A |
T |
8: 95,727,526 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,983,360 (GRCm39) |
I1548T |
probably damaging |
Het |
| Alox12b |
A |
G |
11: 69,054,801 (GRCm39) |
Y268C |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,450,463 (GRCm39) |
D1465G |
probably damaging |
Het |
| Csgalnact1 |
A |
G |
8: 68,826,268 (GRCm39) |
V350A |
possibly damaging |
Het |
| Cyp4a29 |
A |
T |
4: 115,106,882 (GRCm39) |
I180F |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,740,896 (GRCm39) |
D1294E |
probably damaging |
Het |
| Defb47 |
T |
C |
14: 63,235,579 (GRCm39) |
L10P |
possibly damaging |
Het |
| Gpr179 |
T |
C |
11: 97,225,873 (GRCm39) |
E2094G |
probably benign |
Het |
| Gtse1 |
C |
A |
15: 85,746,376 (GRCm39) |
P64Q |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,376,048 (GRCm39) |
V538A |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,269,303 (GRCm39) |
S993L |
probably benign |
Het |
| Lgals8 |
A |
T |
13: 12,462,117 (GRCm39) |
F238I |
probably damaging |
Het |
| Ltn1 |
A |
C |
16: 87,195,673 (GRCm39) |
D1284E |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,705,257 (GRCm39) |
E1925G |
probably damaging |
Het |
| Nck1 |
T |
C |
9: 100,390,580 (GRCm39) |
N43S |
probably damaging |
Het |
| Nsun5 |
C |
A |
5: 135,400,394 (GRCm39) |
T145N |
probably damaging |
Het |
| Or10d1 |
T |
C |
9: 39,484,249 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or10d3 |
A |
G |
9: 39,461,675 (GRCm39) |
F164S |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,219,258 (GRCm39) |
T208A |
probably damaging |
Het |
| Or4c103 |
T |
A |
2: 88,513,774 (GRCm39) |
T101S |
probably benign |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,562,720 (GRCm39) |
E563G |
probably damaging |
Het |
| Pramel42 |
T |
C |
5: 94,685,605 (GRCm39) |
C422R |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,318,910 (GRCm39) |
M660L |
probably benign |
Het |
| Rpl12 |
T |
A |
2: 32,852,122 (GRCm39) |
|
probably benign |
Het |
| Slc22a14 |
C |
A |
9: 119,007,467 (GRCm39) |
W314L |
probably null |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Sphkap |
A |
G |
1: 83,255,565 (GRCm39) |
V728A |
probably benign |
Het |
| Spint4 |
T |
A |
2: 164,542,902 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
A |
G |
11: 30,089,352 (GRCm39) |
S637P |
possibly damaging |
Het |
| Trpm7 |
T |
C |
2: 126,641,086 (GRCm39) |
|
probably benign |
Het |
| Trrap |
C |
T |
5: 144,727,842 (GRCm39) |
T521I |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,380,822 (GRCm39) |
Y357C |
probably damaging |
Het |
| Vwa2 |
A |
G |
19: 56,875,427 (GRCm39) |
D82G |
possibly damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,785,540 (GRCm39) |
I424T |
probably benign |
Het |
| Zmiz1 |
A |
G |
14: 25,647,410 (GRCm39) |
I409M |
probably benign |
Het |
| Zscan18 |
T |
C |
7: 12,504,827 (GRCm39) |
|
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 |
|
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 |
|
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'- CCCGTTCTCAGTAAGTCTGGTAG -3'
(R):5'- CTTCAAGGATGGCTATTTGCTC -3'
Sequencing Primer
(F):5'- TAGACGTCGTGGATGGGCAC -3'
(R):5'- AGGATGGCTATTTGCTCTGACTAATC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation