Incidental Mutation 'IGL02261:Rbm46'
| ID |
286766 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm46
|
| Ensembl Gene |
ENSMUSG00000033882 |
| Gene Name |
RNA binding motif protein 46 |
| Synonyms |
ENSMUSG00000033882, LOC329687 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
IGL02261
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
82744535-82783790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 82771723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 297
(D297E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048647]
[ENSMUST00000182637]
[ENSMUST00000182818]
|
| AlphaFold |
P86049 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048647
AA Change: D297E
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000045511
Gene: ENSMUSG00000033882
AA Change: D297E
| 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 |
possibly damaging
Transcript: ENSMUST00000182637
AA Change: D297E
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138728
Gene: ENSMUSG00000033882
AA Change: D297E
| 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 |
possibly damaging
Transcript: ENSMUST00000182818
AA Change: D297E
PolyPhen 2
Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138429
Gene: ENSMUSG00000033882
AA Change: D297E
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
G |
A |
5: 88,604,807 (GRCm39) |
V27M |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,578,015 (GRCm39) |
N222D |
probably damaging |
Het |
| Bcas3 |
A |
T |
11: 85,422,756 (GRCm39) |
T542S |
probably damaging |
Het |
| Btbd1 |
A |
T |
7: 81,455,507 (GRCm39) |
I288N |
probably damaging |
Het |
| Ctps1 |
C |
T |
4: 120,399,776 (GRCm39) |
V500I |
possibly damaging |
Het |
| Cul5 |
A |
C |
9: 53,546,337 (GRCm39) |
V345G |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,776 (GRCm39) |
Y215H |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,973,566 (GRCm39) |
M67K |
possibly damaging |
Het |
| Egln2 |
C |
T |
7: 26,859,291 (GRCm39) |
E353K |
possibly damaging |
Het |
| Fbxw5 |
G |
T |
2: 25,393,746 (GRCm39) |
A325S |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gaa |
A |
G |
11: 119,172,091 (GRCm39) |
*207W |
probably null |
Het |
| Herc2 |
A |
G |
7: 55,856,492 (GRCm39) |
T3947A |
probably damaging |
Het |
| Ifit2 |
T |
A |
19: 34,551,624 (GRCm39) |
I388N |
probably damaging |
Het |
| Ikzf4 |
T |
C |
10: 128,472,591 (GRCm39) |
T209A |
possibly damaging |
Het |
| Il17re |
A |
T |
6: 113,445,472 (GRCm39) |
|
probably benign |
Het |
| Insrr |
T |
A |
3: 87,708,029 (GRCm39) |
L157Q |
probably damaging |
Het |
| Kcnq2 |
T |
G |
2: 180,723,483 (GRCm39) |
Y631S |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,039,890 (GRCm39) |
I198V |
probably benign |
Het |
| Mir7684 |
A |
T |
15: 82,273,345 (GRCm39) |
|
probably benign |
Het |
| Mphosph9 |
C |
T |
5: 124,398,150 (GRCm39) |
E1049K |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,313,360 (GRCm39) |
R611Q |
probably benign |
Het |
| Mynn |
A |
T |
3: 30,661,280 (GRCm39) |
I121F |
possibly damaging |
Het |
| Ndrg2 |
G |
A |
14: 52,148,566 (GRCm39) |
R32C |
probably damaging |
Het |
| Or2ab1 |
T |
C |
11: 58,488,630 (GRCm39) |
I138T |
probably benign |
Het |
| Or4p7 |
A |
G |
2: 88,221,725 (GRCm39) |
I45V |
probably benign |
Het |
| Ppp1r9b |
A |
G |
11: 94,892,936 (GRCm39) |
E260G |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,291,756 (GRCm39) |
S652G |
probably damaging |
Het |
| Psg25 |
C |
T |
7: 18,255,268 (GRCm39) |
R416H |
probably benign |
Het |
| Pygm |
T |
A |
19: 6,438,301 (GRCm39) |
N171K |
probably damaging |
Het |
| Selenov |
T |
A |
7: 27,990,004 (GRCm39) |
T167S |
probably benign |
Het |
| Serpina10 |
T |
C |
12: 103,583,208 (GRCm39) |
Y358C |
probably damaging |
Het |
| Slc27a3 |
T |
C |
3: 90,295,002 (GRCm39) |
R352G |
probably benign |
Het |
| Snx33 |
T |
C |
9: 56,833,862 (GRCm39) |
D69G |
probably benign |
Het |
| St8sia2 |
G |
T |
7: 73,616,594 (GRCm39) |
P127H |
probably damaging |
Het |
| Thbd |
T |
C |
2: 148,248,401 (GRCm39) |
K489R |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,767,049 (GRCm39) |
C3039S |
probably damaging |
Het |
| Vmn1r167 |
T |
C |
7: 23,204,261 (GRCm39) |
M252V |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,220,960 (GRCm39) |
S590P |
possibly damaging |
Het |
| Zfp827 |
G |
A |
8: 79,906,708 (GRCm39) |
V907I |
probably damaging |
Het |
|
| Other mutations in Rbm46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2200:Rbm46
|
UTSW |
3 |
82,771,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation