Incidental Mutation 'R2200:Rbm46'
| ID |
238593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm46
|
| Ensembl Gene |
ENSMUSG00000033882 |
| Gene Name |
RNA binding motif protein 46 |
| Synonyms |
ENSMUSG00000033882, LOC329687 |
| MMRRC Submission |
040202-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R2200 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
82744535-82783790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 82771351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 421
(D421E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048647]
[ENSMUST00000182637]
[ENSMUST00000182818]
|
| AlphaFold |
P86049 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048647
AA Change: D421E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000045511
Gene: ENSMUSG00000033882
AA Change: D421E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
60 |
N/A |
INTRINSIC |
|
RRM
|
62 |
135 |
8.13e-15 |
SMART |
|
RRM
|
142 |
219 |
1.36e-7 |
SMART |
|
RRM
|
237 |
304 |
4.23e-13 |
SMART |
|
Pfam:DND1_DSRM
|
392 |
468 |
9.4e-30 |
PFAM |
|
low complexity region
|
494 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182637
AA Change: D421E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000138728
Gene: ENSMUSG00000033882
AA Change: D421E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
60 |
N/A |
INTRINSIC |
|
RRM
|
62 |
135 |
8.13e-15 |
SMART |
|
RRM
|
142 |
219 |
1.36e-7 |
SMART |
|
RRM
|
237 |
304 |
4.23e-13 |
SMART |
|
Pfam:DND1_DSRM
|
392 |
468 |
1.3e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182818
AA Change: D421E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000138429
Gene: ENSMUSG00000033882
AA Change: D421E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
60 |
N/A |
INTRINSIC |
|
RRM
|
62 |
135 |
8.13e-15 |
SMART |
|
RRM
|
142 |
219 |
1.36e-7 |
SMART |
|
RRM
|
237 |
304 |
4.23e-13 |
SMART |
|
Pfam:DND1_DSRM
|
392 |
468 |
2.1e-29 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer1 |
T |
C |
17: 57,265,423 (GRCm39) |
I135M |
probably benign |
Het |
| Ano7 |
A |
G |
1: 93,308,158 (GRCm39) |
E63G |
possibly damaging |
Het |
| Asah1 |
A |
G |
8: 41,796,765 (GRCm39) |
|
probably null |
Het |
| B3gat2 |
C |
T |
1: 23,801,873 (GRCm39) |
P53L |
probably benign |
Het |
| Bmp8b |
A |
T |
4: 123,016,815 (GRCm39) |
M339L |
possibly damaging |
Het |
| Bpifb9b |
C |
A |
2: 154,155,574 (GRCm39) |
Q358K |
probably benign |
Het |
| Cbs |
T |
C |
17: 31,843,238 (GRCm39) |
D231G |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,825,673 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,519,685 (GRCm39) |
I230L |
probably benign |
Het |
| Clec2d |
A |
T |
6: 129,161,831 (GRCm39) |
T155S |
possibly damaging |
Het |
| Cpxm1 |
G |
T |
2: 130,235,117 (GRCm39) |
F567L |
probably damaging |
Het |
| Cyp4f16 |
G |
T |
17: 32,756,078 (GRCm39) |
A36S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,993,235 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,791,676 (GRCm39) |
D1280G |
probably damaging |
Het |
| Ergic1 |
C |
A |
17: 26,860,566 (GRCm39) |
A218D |
possibly damaging |
Het |
| Eva1a |
A |
G |
6: 82,068,894 (GRCm39) |
R74G |
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,637,628 (GRCm39) |
S224P |
probably damaging |
Het |
| Fus |
T |
A |
7: 127,576,400 (GRCm39) |
N273K |
probably damaging |
Het |
| Ipo13 |
A |
C |
4: 117,762,100 (GRCm39) |
|
probably null |
Het |
| Itgb3 |
T |
A |
11: 104,531,812 (GRCm39) |
|
probably null |
Het |
| Lrif1 |
T |
A |
3: 106,641,874 (GRCm39) |
S63R |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,832,478 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
T |
2: 41,174,177 (GRCm39) |
N1547K |
probably benign |
Het |
| Mme |
A |
T |
3: 63,287,713 (GRCm39) |
N738I |
possibly damaging |
Het |
| Morc2a |
A |
G |
11: 3,633,919 (GRCm39) |
N677S |
probably benign |
Het |
| Mrpl35 |
A |
C |
6: 71,794,723 (GRCm39) |
L82V |
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,391,557 (GRCm39) |
N313K |
probably damaging |
Het |
| Podn |
T |
C |
4: 107,879,787 (GRCm39) |
D66G |
probably damaging |
Het |
| Ptpru |
A |
T |
4: 131,548,124 (GRCm39) |
N52K |
probably damaging |
Het |
| Pyroxd1 |
G |
T |
6: 142,304,808 (GRCm39) |
R345L |
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,619,358 (GRCm39) |
S485P |
probably damaging |
Het |
| Rgs10 |
T |
C |
7: 127,990,761 (GRCm39) |
E109G |
probably damaging |
Het |
| Samd8 |
C |
T |
14: 21,825,388 (GRCm39) |
P178S |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,404 (GRCm39) |
K387E |
probably damaging |
Het |
| Sccpdh |
G |
T |
1: 179,498,171 (GRCm39) |
V72F |
possibly damaging |
Het |
| Sec22a |
A |
T |
16: 35,134,527 (GRCm39) |
V285E |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,000,664 (GRCm39) |
S118P |
probably damaging |
Het |
| Sun1 |
C |
A |
5: 139,216,974 (GRCm39) |
R338S |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,325,417 (GRCm39) |
F815S |
probably benign |
Het |
| Zcchc14 |
A |
T |
8: 122,332,167 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rbm46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02261:Rbm46
|
APN |
3 |
82,771,723 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0048:Rbm46
|
UTSW |
3 |
82,771,537 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0554:Rbm46
|
UTSW |
3 |
82,772,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1606:Rbm46
|
UTSW |
3 |
82,771,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2357:Rbm46
|
UTSW |
3 |
82,771,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4646:Rbm46
|
UTSW |
3 |
82,771,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4647:Rbm46
|
UTSW |
3 |
82,771,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4648:Rbm46
|
UTSW |
3 |
82,771,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5584:Rbm46
|
UTSW |
3 |
82,771,465 (GRCm39) |
missense |
probably benign |
|
|
R5722:Rbm46
|
UTSW |
3 |
82,772,640 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6393:Rbm46
|
UTSW |
3 |
82,771,262 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7228:Rbm46
|
UTSW |
3 |
82,749,840 (GRCm39) |
missense |
probably benign |
|
|
R7438:Rbm46
|
UTSW |
3 |
82,749,795 (GRCm39) |
nonsense |
probably null |
|
|
R7445:Rbm46
|
UTSW |
3 |
82,771,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7452:Rbm46
|
UTSW |
3 |
82,771,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8195:Rbm46
|
UTSW |
3 |
82,772,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8196:Rbm46
|
UTSW |
3 |
82,772,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8211:Rbm46
|
UTSW |
3 |
82,772,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8212:Rbm46
|
UTSW |
3 |
82,772,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8235:Rbm46
|
UTSW |
3 |
82,772,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8239:Rbm46
|
UTSW |
3 |
82,772,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8276:Rbm46
|
UTSW |
3 |
82,771,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9610:Rbm46
|
UTSW |
3 |
82,771,541 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Rbm46
|
UTSW |
3 |
82,744,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGGACTGTATATCTACCACAG -3'
(R):5'- ATGGTCAGCATAGTCCAAGC -3'
Sequencing Primer
(F):5'- CACAGTATTCTCTAATGTCAACACG -3'
(R):5'- CCCCCTGAGATTGAAAGAT -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation