Incidental Mutation 'PIT4402001:Rbm47'
| ID |
555515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm47
|
| Ensembl Gene |
ENSMUSG00000070780 |
| Gene Name |
RNA binding motif protein 47 |
| Synonyms |
9530077J19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
PIT4402001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
66173892-66309297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66184354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 83
(Y83F)
|
| 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: Y83F
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000092348
Gene: ENSMUSG00000070780
AA Change: Y83F
| 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: Y83F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092349
Gene: ENSMUSG00000070780
AA Change: Y83F
| 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: Y83F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109353
Gene: ENSMUSG00000070780
AA Change: Y83F
| 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: Y83F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109355
Gene: ENSMUSG00000070780
AA Change: Y83F
| 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: Y83F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128016
Gene: ENSMUSG00000070780
AA Change: Y83F
| 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: Y83F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144325
Gene: ENSMUSG00000070780
AA Change: Y83F
| 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: Y83F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144505
Gene: ENSMUSG00000070780
AA Change: Y83F
| 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: Y83F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144122
Gene: ENSMUSG00000070780
AA Change: Y83F
| 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: 92.8%
- 3x: 90.3%
- 10x: 83.2%
- 20x: 68.1%
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
G |
14: 59,380,084 (GRCm39) |
L71F |
probably damaging |
Het |
| Adamts9 |
C |
T |
6: 92,849,328 (GRCm39) |
V1044I |
probably benign |
Het |
| Alcam |
T |
C |
16: 52,115,497 (GRCm39) |
Y207C |
probably damaging |
Het |
| Aldh4a1 |
C |
A |
4: 139,369,502 (GRCm39) |
S351* |
probably null |
Het |
| Aoah |
C |
A |
13: 20,978,680 (GRCm39) |
S39R |
probably benign |
Het |
| Arcn1 |
A |
T |
9: 44,656,899 (GRCm39) |
V421E |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,306,485 (GRCm39) |
E300G |
possibly damaging |
Het |
| Cdk2ap2 |
C |
A |
19: 4,148,557 (GRCm39) |
R126S |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,668,276 (GRCm39) |
I39V |
probably benign |
Het |
| Fam53b |
A |
T |
7: 132,361,746 (GRCm39) |
I94N |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,594,422 (GRCm39) |
H652R |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,039,803 (GRCm39) |
M157K |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,615,049 (GRCm39) |
I299N |
probably damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gns |
A |
G |
10: 121,212,611 (GRCm39) |
Y191C |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,462,063 (GRCm39) |
T690A |
possibly damaging |
Het |
| Gsk3b |
C |
T |
16: 37,909,763 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,233,000 (GRCm39) |
V1911A |
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,334,393 (GRCm39) |
K157E |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,091,369 (GRCm39) |
Y118H |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,752,359 (GRCm39) |
V1413A |
unknown |
Het |
| Mettl9 |
T |
A |
7: 120,656,440 (GRCm39) |
V190E |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,935,258 (GRCm39) |
L188P |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,777,719 (GRCm39) |
R1158S |
possibly damaging |
Het |
| Nacad |
T |
G |
11: 6,548,621 (GRCm39) |
Q1371P |
probably benign |
Het |
| Ncoa1 |
T |
C |
12: 4,344,987 (GRCm39) |
M787V |
probably benign |
Het |
| Noxred1 |
A |
T |
12: 87,273,855 (GRCm39) |
I62K |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,316 (GRCm39) |
H86L |
probably benign |
Het |
| Or2d3b |
T |
A |
7: 106,514,294 (GRCm39) |
D296E |
possibly damaging |
Het |
| Or2y17 |
A |
G |
11: 49,232,226 (GRCm39) |
Y289C |
probably damaging |
Het |
| Or52d1 |
A |
G |
7: 103,755,657 (GRCm39) |
Y57C |
probably damaging |
Het |
| Otud6b |
A |
G |
4: 14,818,185 (GRCm39) |
Y239H |
probably damaging |
Het |
| Pank1 |
A |
G |
19: 34,818,366 (GRCm39) |
Y233H |
probably damaging |
Het |
| Pccb |
G |
T |
9: 100,877,645 (GRCm39) |
D286E |
probably benign |
Het |
| Plek |
A |
C |
11: 16,940,121 (GRCm39) |
L196R |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,299,931 (GRCm39) |
H576R |
|
Het |
| Rbm6 |
A |
T |
9: 107,665,049 (GRCm39) |
Y787N |
probably damaging |
Het |
| Slc8a2 |
C |
A |
7: 15,868,419 (GRCm39) |
A217E |
probably damaging |
Het |
| Suox |
G |
A |
10: 128,507,164 (GRCm39) |
A288V |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,640,873 (GRCm39) |
I501M |
probably damaging |
Het |
| Tjp2 |
C |
A |
19: 24,075,493 (GRCm39) |
G1042* |
probably null |
Het |
| Tmtc2 |
T |
C |
10: 105,249,268 (GRCm39) |
Y155C |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,516,359 (GRCm39) |
N600S |
probably benign |
Het |
| Zer1 |
T |
C |
2: 29,991,132 (GRCm39) |
I699V |
probably damaging |
Het |
| Zfp142 |
A |
G |
1: 74,618,687 (GRCm39) |
F227S |
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 |
|
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 |
|
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'- AGTTGTCCACACTACAGCAC -3'
(R):5'- AACAGCGATCCAACAGTGGG -3'
Sequencing Primer
(F):5'- CACACCCAGCAGACGGC -3'
(R):5'- ATCCAACAGTGGGGTCCTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation