Incidental Mutation 'R8114:Rbm47'
| ID |
631056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm47
|
| Ensembl Gene |
ENSMUSG00000070780 |
| Gene Name |
RNA binding motif protein 47 |
| Synonyms |
9530077J19Rik |
| MMRRC Submission |
067543-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R8114 (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 C
at 66184196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 136
(I136V)
|
| 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 |
probably benign
Transcript: ENSMUST00000094756
AA Change: I136V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000092348
Gene: ENSMUSG00000070780
AA Change: I136V
| 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: I136V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000092349
Gene: ENSMUSG00000070780
AA Change: I136V
| 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: I136V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000109353
Gene: ENSMUSG00000070780
AA Change: I136V
| 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: I136V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000109355
Gene: ENSMUSG00000070780
AA Change: I136V
| 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: I136V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128016
Gene: ENSMUSG00000070780
AA Change: I136V
| 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: I136V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144325
Gene: ENSMUSG00000070780
AA Change: I136V
| 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
AA Change: I136V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144505
Gene: ENSMUSG00000070780
AA Change: I136V
| 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: I136V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144122
Gene: ENSMUSG00000070780
AA Change: I136V
| 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
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.7%
|
| Validation Efficiency |
100% (64/64) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
G |
T |
16: 14,407,091 (GRCm39) |
E7* |
probably null |
Het |
| Abca7 |
T |
C |
10: 79,844,874 (GRCm39) |
I1532T |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,569,617 (GRCm39) |
D286G |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,741,163 (GRCm39) |
T970A |
probably benign |
Het |
| Apcdd1 |
A |
G |
18: 63,083,127 (GRCm39) |
N319S |
probably damaging |
Het |
| Arih1 |
A |
G |
9: 59,303,836 (GRCm39) |
M423T |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,396,140 (GRCm39) |
Q677L |
probably damaging |
Het |
| Ccdc121rt3 |
C |
A |
5: 112,503,563 (GRCm39) |
R47L |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,614,537 (GRCm39) |
N1046S |
probably damaging |
Het |
| Ccdc63 |
G |
T |
5: 122,251,244 (GRCm39) |
Q389K |
possibly damaging |
Het |
| Cd274 |
T |
C |
19: 29,361,528 (GRCm39) |
S279P |
probably damaging |
Het |
| Cdcp2 |
A |
T |
4: 106,962,555 (GRCm39) |
I243F |
probably damaging |
Het |
| Cfap298 |
T |
C |
16: 90,731,545 (GRCm39) |
T22A |
probably benign |
Het |
| Cul2 |
A |
T |
18: 3,426,164 (GRCm39) |
K414* |
probably null |
Het |
| Daglb |
A |
G |
5: 143,464,218 (GRCm39) |
H243R |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,240,122 (GRCm39) |
Y493F |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Eea1 |
G |
T |
10: 95,830,851 (GRCm39) |
E171* |
probably null |
Het |
| Eml6 |
C |
T |
11: 29,704,910 (GRCm39) |
G1545R |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,073,365 (GRCm39) |
I2463V |
probably benign |
Het |
| Fgl1 |
A |
G |
8: 41,644,620 (GRCm39) |
Y295H |
probably damaging |
Het |
| Frrs1 |
A |
G |
3: 116,675,425 (GRCm39) |
T118A |
probably damaging |
Het |
| Gdi2 |
T |
C |
13: 3,598,906 (GRCm39) |
V30A |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,165,732 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
A |
G |
6: 121,390,458 (GRCm39) |
S338P |
unknown |
Het |
| Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
| Ldah |
A |
G |
12: 8,334,039 (GRCm39) |
E310G |
probably damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,785,563 (GRCm39) |
V65A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,098,677 (GRCm39) |
T1735K |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,215,734 (GRCm39) |
V191D |
possibly damaging |
Het |
| Oas1e |
T |
C |
5: 120,924,708 (GRCm39) |
T377A |
unknown |
Het |
| Odr4 |
A |
T |
1: 150,264,308 (GRCm39) |
L67* |
probably null |
Het |
| Or10al6 |
T |
C |
17: 38,082,880 (GRCm39) |
F112S |
possibly damaging |
Het |
| Or10v9 |
G |
A |
19: 11,832,466 (GRCm39) |
P284S |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,530 (GRCm39) |
H193Q |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,821,738 (GRCm39) |
S70G |
possibly damaging |
Het |
| Plcl2 |
T |
C |
17: 50,994,815 (GRCm39) |
S1095P |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,862,577 (GRCm39) |
K637E |
possibly damaging |
Het |
| Serpinb3c |
A |
C |
1: 107,204,034 (GRCm39) |
N59K |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,817,930 (GRCm39) |
N122Y |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,923,503 (GRCm39) |
V347A |
probably benign |
Het |
| Slc22a30 |
A |
T |
19: 8,381,904 (GRCm39) |
Y122* |
probably null |
Het |
| Slc34a2 |
G |
A |
5: 53,225,701 (GRCm39) |
S450N |
probably benign |
Het |
| Snx17 |
A |
T |
5: 31,355,046 (GRCm39) |
M354L |
probably benign |
Het |
| Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
| Surf6 |
G |
A |
2: 26,782,380 (GRCm39) |
Q316* |
probably null |
Het |
| Tiprl |
A |
G |
1: 165,055,991 (GRCm39) |
S44P |
probably benign |
Het |
| Tmem39a |
T |
G |
16: 38,411,359 (GRCm39) |
L438R |
probably damaging |
Het |
| Tmem39a |
C |
A |
16: 38,411,358 (GRCm39) |
L438M |
probably damaging |
Het |
| Tns2 |
G |
C |
15: 102,019,825 (GRCm39) |
V572L |
probably benign |
Het |
| Trdn |
T |
C |
10: 32,959,624 (GRCm39) |
|
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,952,411 (GRCm39) |
I587V |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,692,394 (GRCm39) |
D952G |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,511,392 (GRCm39) |
N470K |
probably damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,805,097 (GRCm39) |
I5N |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Ythdc2 |
A |
G |
18: 45,010,807 (GRCm39) |
D1272G |
probably benign |
Het |
| Zfp959 |
A |
G |
17: 56,205,496 (GRCm39) |
Y511C |
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 |
|
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'- CACGATGGCTCTCATACTCC -3'
(R):5'- AGGTCTTCGTGGGCAAGATC -3'
Sequencing Primer
(F):5'- GATGGCTCTCATACTCCACAAAGG -3'
(R):5'- GCAAGATCCCACGTGACG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation