Incidental Mutation 'R8196:Rbm46'
| ID |
635437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm46
|
| Ensembl Gene |
ENSMUSG00000033882 |
| Gene Name |
RNA binding motif protein 46 |
| Synonyms |
ENSMUSG00000033882, LOC329687 |
| MMRRC Submission |
067619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R8196 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
82744535-82783790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 82772775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 119
(R119Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048647]
[ENSMUST00000182637]
[ENSMUST00000182818]
|
| AlphaFold |
P86049 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048647
AA Change: R119Q
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000045511
Gene: ENSMUSG00000033882
AA Change: R119Q
| 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: R119Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000138728
Gene: ENSMUSG00000033882
AA Change: R119Q
| 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: R119Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000138429
Gene: ENSMUSG00000033882
AA Change: R119Q
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
T |
A |
19: 21,656,024 (GRCm39) |
V102D |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,454,087 (GRCm39) |
D301E |
probably benign |
Het |
| Adnp |
A |
C |
2: 168,025,092 (GRCm39) |
D734E |
probably benign |
Het |
| Ank2 |
T |
A |
3: 126,723,532 (GRCm39) |
T932S |
probably damaging |
Het |
| Arhgap20 |
C |
A |
9: 51,760,277 (GRCm39) |
D709E |
possibly damaging |
Het |
| Atoh1 |
A |
G |
6: 64,707,226 (GRCm39) |
D307G |
probably benign |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| B3galt1 |
A |
G |
2: 67,948,530 (GRCm39) |
I82V |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,118,285 (GRCm39) |
D1111G |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,059,468 (GRCm39) |
D2089G |
probably benign |
Het |
| Dach1 |
T |
A |
14: 98,256,370 (GRCm39) |
H296L |
probably damaging |
Het |
| Dennd4b |
T |
G |
3: 90,178,904 (GRCm39) |
L556R |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,405,151 (GRCm39) |
S326T |
probably benign |
Het |
| Eif2b5 |
T |
A |
16: 20,321,306 (GRCm39) |
H286Q |
probably damaging |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Fn3k |
T |
A |
11: 121,341,222 (GRCm39) |
F292L |
probably damaging |
Het |
| Gm1123 |
G |
A |
9: 98,905,309 (GRCm39) |
A67V |
probably benign |
Het |
| Hey2 |
C |
T |
10: 30,710,273 (GRCm39) |
C160Y |
probably benign |
Het |
| Jph2 |
T |
A |
2: 163,180,621 (GRCm39) |
|
probably null |
Het |
| Lars1 |
A |
G |
18: 42,343,166 (GRCm39) |
S1084P |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,276,497 (GRCm39) |
D6084G |
probably damaging |
Het |
| Mdfic |
G |
T |
6: 15,740,989 (GRCm39) |
A115S |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,297,237 (GRCm39) |
E2599G |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,509,689 (GRCm39) |
S131P |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,556,630 (GRCm39) |
T3221K |
unknown |
Het |
| Or1q1 |
T |
A |
2: 36,886,873 (GRCm39) |
I17N |
possibly damaging |
Het |
| Or8b3 |
A |
G |
9: 38,314,904 (GRCm39) |
S245G |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pdgfc |
A |
G |
3: 80,944,811 (GRCm39) |
E23G |
possibly damaging |
Het |
| Pfkp |
T |
C |
13: 6,655,698 (GRCm39) |
T312A |
probably benign |
Het |
| Pxn |
A |
G |
5: 115,683,768 (GRCm39) |
E200G |
probably damaging |
Het |
| Rai1 |
C |
T |
11: 60,076,796 (GRCm39) |
H287Y |
probably damaging |
Het |
| Rap1gap |
G |
A |
4: 137,445,275 (GRCm39) |
V319I |
probably benign |
Het |
| Selp |
A |
T |
1: 163,961,490 (GRCm39) |
D401V |
possibly damaging |
Het |
| Sh3bp5 |
A |
G |
14: 31,139,399 (GRCm39) |
V58A |
probably benign |
Het |
| Shpk |
A |
T |
11: 73,094,775 (GRCm39) |
I64F |
probably benign |
Het |
| Slmap |
A |
G |
14: 26,189,646 (GRCm39) |
Y171H |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,075,661 (GRCm39) |
T183A |
probably benign |
Het |
| Tyw1 |
G |
T |
5: 130,328,862 (GRCm39) |
L549F |
probably damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,051,329 (GRCm39) |
M301K |
probably benign |
Het |
| Uvssa |
G |
A |
5: 33,568,311 (GRCm39) |
V532I |
probably benign |
Het |
| Vmn2r113 |
A |
T |
17: 23,176,938 (GRCm39) |
K574I |
probably damaging |
Het |
| Zfp52 |
A |
G |
17: 21,782,156 (GRCm39) |
N668S |
possibly damaging |
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 |
|
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 |
|
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'- AGGCAAACCCACGGTTCTTG -3'
(R):5'- TTCAGGTTGGGAAGGTCCAC -3'
Sequencing Primer
(F):5'- TGTCAGTTGCACTTGGATAAAC -3'
(R):5'- TCCCCCTAGAGGTTGTGAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation