Incidental Mutation 'R9262:Rbm12'
| ID |
702297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm12
|
| Ensembl Gene |
ENSMUSG00000089824 |
| Gene Name |
RNA binding motif protein 12 |
| Synonyms |
SWAN, 9430070C08Rik, 5730420G12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
R9262 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155933876-155953847 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155939317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 318
(N318K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059647]
[ENSMUST00000079312]
[ENSMUST00000109604]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000128499]
[ENSMUST00000131377]
[ENSMUST00000132494]
[ENSMUST00000133921]
[ENSMUST00000136296]
[ENSMUST00000138068]
[ENSMUST00000142960]
[ENSMUST00000147627]
[ENSMUST00000153634]
[ENSMUST00000154889]
[ENSMUST00000183518]
[ENSMUST00000183972]
[ENSMUST00000184152]
[ENSMUST00000184265]
[ENSMUST00000184899]
|
| AlphaFold |
Q8R4X3 |
| PDB Structure |
Solution structure of the RNA binding domain of RNA-binding protein 12 [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059647
AA Change: N318K
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: N318K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_6
|
5 |
70 |
5e-5 |
PFAM |
|
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
|
RRM
|
305 |
375 |
1.05e-1 |
SMART |
|
RRM
|
431 |
503 |
2.73e-7 |
SMART |
|
RRM
|
545 |
617 |
8.73e-6 |
SMART |
|
low complexity region
|
655 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
908 |
N/A |
INTRINSIC |
|
RRM
|
917 |
990 |
1.03e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079312
|
| SMART Domains |
Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
C2
|
137 |
242 |
8.76e-12 |
SMART |
|
VWA
|
282 |
468 |
8.96e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109604
AA Change: N318K
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: N318K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_6
|
5 |
70 |
1.1e-5 |
PFAM |
|
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
|
RRM
|
305 |
375 |
1.05e-1 |
SMART |
|
RRM
|
431 |
503 |
2.73e-7 |
SMART |
|
RRM
|
545 |
617 |
8.73e-6 |
SMART |
|
low complexity region
|
655 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
866 |
908 |
N/A |
INTRINSIC |
|
RRM
|
917 |
990 |
1.03e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109607
|
| SMART Domains |
Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
C2
|
137 |
242 |
8.76e-12 |
SMART |
|
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109608
|
| SMART Domains |
Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
C2
|
137 |
242 |
8.76e-12 |
SMART |
|
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950
AA Change: N229K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
172 |
N/A |
INTRINSIC |
|
RRM
|
217 |
287 |
1.05e-1 |
SMART |
|
RRM
|
343 |
415 |
2.73e-7 |
SMART |
|
RRM
|
457 |
529 |
8.73e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128499
|
| SMART Domains |
Protein: ENSMUSP00000118067
Gene: ENSMUSG00000089824
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DB1|A
|
2 |
86 |
6e-8 |
PDB |
|
Blast:RRM_2
|
4 |
72 |
1e-30 |
BLAST |
|
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131377
|
| SMART Domains |
Protein: ENSMUSP00000120731
Gene: ENSMUSG00000089824
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DB1|A
|
2 |
86 |
1e-7 |
PDB |
|
Blast:RRM_2
|
4 |
72 |
4e-29 |
BLAST |
|
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132494
AA Change: N318K
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950
AA Change: N318K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_6
|
5 |
70 |
1.5e-5 |
PFAM |
|
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
|
RRM
|
305 |
375 |
1.05e-1 |
SMART |
|
RRM
|
431 |
503 |
2.73e-7 |
SMART |
|
RRM
|
545 |
617 |
8.73e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133921
|
| SMART Domains |
Protein: ENSMUSP00000122644
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Pfam:C2
|
139 |
178 |
3.3e-3 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136296
|
| SMART Domains |
Protein: ENSMUSP00000122994
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
C2
|
123 |
218 |
7.88e-5 |
SMART |
|
Pfam:Copine
|
279 |
378 |
2.3e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138068
|
| SMART Domains |
Protein: ENSMUSP00000119519
Gene: ENSMUSG00000089824
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DB1|A
|
2 |
86 |
5e-8 |
PDB |
|
Blast:RRM_2
|
4 |
72 |
1e-30 |
BLAST |
|
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142960
|
| SMART Domains |
Protein: ENSMUSP00000121299
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
2.4e-11 |
SMART |
|
C2
|
123 |
206 |
3e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147627
|
| SMART Domains |
Protein: ENSMUSP00000116982
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
C2
|
137 |
242 |
8.76e-12 |
SMART |
|
Pfam:Copine
|
303 |
350 |
1.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153634
|
| SMART Domains |
Protein: ENSMUSP00000115167
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
C2
|
123 |
218 |
7.88e-5 |
SMART |
|
Pfam:Copine
|
279 |
325 |
4.1e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154889
|
| SMART Domains |
Protein: ENSMUSP00000118140
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159952
|
| SMART Domains |
Protein: ENSMUSP00000124101
Gene: ENSMUSG00000098950
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eg5a_
|
3 |
82 |
2e-15 |
SMART |
|
PDB:1P3W|A
|
3 |
86 |
3e-34 |
PDB |
|
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
|
Blast:RRM_2
|
124 |
160 |
2e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160165
|
| SMART Domains |
Protein: ENSMUSP00000124858
Gene: ENSMUSG00000098950
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1P3W|A
|
3 |
28 |
1e-6 |
PDB |
|
low complexity region
|
36 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162612
|
| SMART Domains |
Protein: ENSMUSP00000125190
Gene: ENSMUSG00000098950
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eg5a_
|
3 |
82 |
1e-15 |
SMART |
|
PDB:1P3W|A
|
3 |
86 |
2e-34 |
PDB |
|
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
|
Blast:RRM_2
|
124 |
161 |
1e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183518
|
| SMART Domains |
Protein: ENSMUSP00000139010
Gene: ENSMUSG00000098950
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM_2
|
4 |
40 |
4e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184152
|
| SMART Domains |
Protein: ENSMUSP00000139035
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184265
|
| SMART Domains |
Protein: ENSMUSP00000138888
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184899
|
| SMART Domains |
Protein: ENSMUSP00000139177
Gene: ENSMUSG00000098950
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM_2
|
4 |
54 |
2e-25 |
BLAST |
|
SCOP:d2u1a__
|
9 |
68 |
6e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
97% (73/75) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 2 H2. Two alternatively spliced transcript variants have been identified for this gene. Both variants encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU mutation exhibit open neural tube and embryonic growth retardation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,443,375 (GRCm39) |
H192L |
unknown |
Het |
| Abca4 |
T |
A |
3: 121,964,639 (GRCm39) |
C2149S |
probably damaging |
Het |
| Abl2 |
G |
A |
1: 156,469,820 (GRCm39) |
G1028D |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,754,941 (GRCm39) |
T680A |
probably damaging |
Het |
| Amn |
G |
A |
12: 111,237,585 (GRCm39) |
W10* |
probably null |
Het |
| Ankhd1 |
G |
T |
18: 36,765,799 (GRCm39) |
V140F |
|
Het |
| Asnsd1 |
A |
T |
1: 53,383,934 (GRCm39) |
N613K |
probably benign |
Het |
| Bbs2 |
A |
T |
8: 94,807,543 (GRCm39) |
I417N |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,225,009 (GRCm39) |
W971R |
probably null |
Het |
| Cand2 |
A |
T |
6: 115,759,730 (GRCm39) |
I134F |
probably benign |
Het |
| Ccdc154 |
C |
A |
17: 25,389,160 (GRCm39) |
H453N |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,096,269 (GRCm39) |
S1610P |
possibly damaging |
Het |
| Ccdc7a |
T |
A |
8: 129,486,277 (GRCm39) |
H1601L |
possibly damaging |
Het |
| Ccdc9 |
A |
C |
7: 16,012,400 (GRCm39) |
S261A |
probably benign |
Het |
| Cdkl3 |
T |
A |
11: 51,916,702 (GRCm39) |
S277T |
probably benign |
Het |
| Cipc |
T |
A |
12: 86,999,497 (GRCm39) |
Y8* |
probably null |
Het |
| Cramp1 |
A |
G |
17: 25,232,920 (GRCm39) |
S27P |
probably damaging |
Het |
| Csf1r |
A |
T |
18: 61,243,406 (GRCm39) |
M141L |
probably benign |
Het |
| Csf2rb2 |
G |
T |
15: 78,168,535 (GRCm39) |
F873L |
probably damaging |
Het |
| Dchs1 |
G |
A |
7: 105,404,833 (GRCm39) |
R2570W |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 49,976,919 (GRCm39) |
N94Y |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,176,965 (GRCm39) |
K640R |
probably benign |
Het |
| Epha8 |
A |
C |
4: 136,658,995 (GRCm39) |
H886Q |
probably benign |
Het |
| Fcgbp |
G |
C |
7: 27,819,952 (GRCm39) |
D2560H |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,305,109 (GRCm39) |
F605V |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,807,662 (GRCm39) |
N1327S |
probably benign |
Het |
| Gm12117 |
T |
C |
11: 33,226,001 (GRCm39) |
T112A |
probably benign |
Het |
| Gm3604 |
A |
T |
13: 62,517,697 (GRCm39) |
N220K |
probably damaging |
Het |
| Gm572 |
T |
C |
4: 148,735,652 (GRCm39) |
V27A |
probably benign |
Het |
| Gpr39 |
A |
G |
1: 125,800,524 (GRCm39) |
K425R |
probably benign |
Het |
| Heatr3 |
A |
G |
8: 88,883,097 (GRCm39) |
D349G |
probably benign |
Het |
| Hip1 |
A |
G |
5: 135,478,541 (GRCm39) |
S248P |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,659,678 (GRCm39) |
|
probably benign |
Het |
| Itga3 |
C |
T |
11: 94,956,625 (GRCm39) |
V210I |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,083,793 (GRCm39) |
I2173T |
probably benign |
Het |
| Klf13 |
G |
A |
7: 63,574,456 (GRCm39) |
Q21* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,731,222 (GRCm39) |
S3032T |
probably benign |
Het |
| Krt34 |
T |
C |
11: 99,930,851 (GRCm39) |
R184G |
probably benign |
Het |
| Krtap16-1 |
T |
C |
11: 99,876,994 (GRCm39) |
T137A |
probably benign |
Het |
| Ldc1 |
A |
G |
4: 130,114,153 (GRCm39) |
V88A |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,723,422 (GRCm39) |
|
probably null |
Het |
| Mog |
T |
C |
17: 37,325,648 (GRCm39) |
T196A |
possibly damaging |
Het |
| Ms4a6d |
T |
C |
19: 11,579,216 (GRCm39) |
Y87C |
possibly damaging |
Het |
| Ndrg4 |
C |
T |
8: 96,435,812 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,394,871 (GRCm39) |
M927K |
possibly damaging |
Het |
| Or11l3 |
T |
A |
11: 58,516,282 (GRCm39) |
M197L |
probably benign |
Het |
| Or4a73 |
G |
T |
2: 89,421,435 (GRCm39) |
T8K |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Pcdhac2 |
A |
G |
18: 37,279,095 (GRCm39) |
R692G |
possibly damaging |
Het |
| Pcsk4 |
T |
A |
10: 80,160,864 (GRCm39) |
S321C |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,120,859 (GRCm39) |
F1292L |
|
Het |
| Pigv |
G |
T |
4: 133,397,110 (GRCm39) |
P6Q |
possibly damaging |
Het |
| Pkhd1 |
A |
C |
1: 20,618,351 (GRCm39) |
S927A |
probably benign |
Het |
| Pnpla3 |
A |
T |
15: 84,055,363 (GRCm39) |
I90F |
probably benign |
Het |
| Pole |
C |
A |
5: 110,473,422 (GRCm39) |
L1739I |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,473,423 (GRCm39) |
L1739H |
probably damaging |
Het |
| Rpl18a |
A |
T |
8: 71,348,179 (GRCm39) |
L168Q |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,765,854 (GRCm39) |
N1294S |
probably damaging |
Het |
| Sema5b |
T |
C |
16: 35,453,223 (GRCm39) |
L98P |
possibly damaging |
Het |
| Slco1a8 |
G |
T |
6: 141,926,594 (GRCm39) |
F597L |
probably damaging |
Het |
| Smg7 |
A |
G |
1: 152,721,262 (GRCm39) |
V650A |
probably damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,402 (GRCm39) |
M473V |
probably benign |
Het |
| Strada |
C |
T |
11: 106,075,444 (GRCm39) |
R13Q |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,200,918 (GRCm39) |
S37P |
unknown |
Het |
| Syce1l |
T |
C |
8: 114,380,738 (GRCm39) |
|
probably null |
Het |
| Tdg |
T |
A |
10: 82,480,507 (GRCm39) |
F263L |
probably damaging |
Het |
| Tead3 |
G |
T |
17: 28,560,495 (GRCm39) |
S36R |
probably benign |
Het |
| Timm44 |
A |
G |
8: 4,310,621 (GRCm39) |
L377P |
probably damaging |
Het |
| Tk1 |
C |
T |
11: 117,716,581 (GRCm39) |
V9M |
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,300,506 (GRCm39) |
Y722H |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,640,232 (GRCm39) |
M13792K |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,594,411 (GRCm39) |
|
probably benign |
Het |
| Usp46 |
G |
T |
5: 74,189,965 (GRCm39) |
A133E |
probably benign |
Het |
| Wnk2 |
T |
A |
13: 49,221,430 (GRCm39) |
R1240S |
probably benign |
Het |
| Zfp821 |
G |
A |
8: 110,450,982 (GRCm39) |
R325Q |
probably damaging |
Het |
|
| Other mutations in Rbm12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00578:Rbm12
|
APN |
2 |
155,937,961 (GRCm39) |
intron |
probably benign |
|
|
IGL01307:Rbm12
|
APN |
2 |
155,937,302 (GRCm39) |
intron |
probably benign |
|
|
IGL02474:Rbm12
|
APN |
2 |
155,940,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02596:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
|
IGL02601:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
|
IGL02603:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
|
IGL02608:Rbm12
|
APN |
2 |
155,937,818 (GRCm39) |
intron |
probably benign |
|
|
IGL02679:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
|
IGL02691:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
|
IGL02693:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
|
IGL02702:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
|
IGL02703:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
|
IGL03407:Rbm12
|
APN |
2 |
155,939,484 (GRCm39) |
nonsense |
probably null |
|
|
IGL02991:Rbm12
|
UTSW |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
|
R0310:Rbm12
|
UTSW |
2 |
155,937,644 (GRCm39) |
intron |
probably benign |
|
|
R1213:Rbm12
|
UTSW |
2 |
155,939,412 (GRCm39) |
nonsense |
probably null |
|
|
R1280:Rbm12
|
UTSW |
2 |
155,938,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Rbm12
|
UTSW |
2 |
155,939,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1951:Rbm12
|
UTSW |
2 |
155,939,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2131:Rbm12
|
UTSW |
2 |
155,937,430 (GRCm39) |
nonsense |
probably null |
|
|
R2133:Rbm12
|
UTSW |
2 |
155,937,430 (GRCm39) |
nonsense |
probably null |
|
|
R2883:Rbm12
|
UTSW |
2 |
155,938,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4760:Rbm12
|
UTSW |
2 |
155,939,048 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4783:Rbm12
|
UTSW |
2 |
155,938,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4784:Rbm12
|
UTSW |
2 |
155,938,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4785:Rbm12
|
UTSW |
2 |
155,938,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4794:Rbm12
|
UTSW |
2 |
155,937,489 (GRCm39) |
intron |
probably benign |
|
|
R5057:Rbm12
|
UTSW |
2 |
155,938,806 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5383:Rbm12
|
UTSW |
2 |
155,945,285 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5599:Rbm12
|
UTSW |
2 |
155,938,713 (GRCm39) |
nonsense |
probably null |
|
|
R5979:Rbm12
|
UTSW |
2 |
155,939,679 (GRCm39) |
intron |
probably benign |
|
|
R6083:Rbm12
|
UTSW |
2 |
155,939,646 (GRCm39) |
intron |
probably benign |
|
|
R6769:Rbm12
|
UTSW |
2 |
155,939,375 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6771:Rbm12
|
UTSW |
2 |
155,939,375 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7233:Rbm12
|
UTSW |
2 |
155,937,894 (GRCm39) |
missense |
unknown |
|
|
R7424:Rbm12
|
UTSW |
2 |
155,939,223 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7483:Rbm12
|
UTSW |
2 |
155,940,138 (GRCm39) |
missense |
unknown |
|
|
R7643:Rbm12
|
UTSW |
2 |
155,940,137 (GRCm39) |
missense |
unknown |
|
|
R7848:Rbm12
|
UTSW |
2 |
155,938,136 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8556:Rbm12
|
UTSW |
2 |
155,938,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Rbm12
|
UTSW |
2 |
155,938,693 (GRCm39) |
nonsense |
probably null |
|
|
R8875:Rbm12
|
UTSW |
2 |
155,938,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9054:Rbm12
|
UTSW |
2 |
155,937,481 (GRCm39) |
missense |
unknown |
|
|
R9115:Rbm12
|
UTSW |
2 |
155,938,030 (GRCm39) |
intron |
probably benign |
|
|
R9179:Rbm12
|
UTSW |
2 |
155,938,463 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9495:Rbm12
|
UTSW |
2 |
155,939,738 (GRCm39) |
missense |
unknown |
|
|
R9656:Rbm12
|
UTSW |
2 |
155,940,121 (GRCm39) |
missense |
unknown |
|
|
R9701:Rbm12
|
UTSW |
2 |
155,938,166 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9759:Rbm12
|
UTSW |
2 |
155,938,546 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF001:Rbm12
|
UTSW |
2 |
155,937,995 (GRCm39) |
intron |
probably benign |
|
|
RF021:Rbm12
|
UTSW |
2 |
155,938,026 (GRCm39) |
intron |
probably benign |
|
|
RF028:Rbm12
|
UTSW |
2 |
155,938,050 (GRCm39) |
frame shift |
probably null |
|
|
RF029:Rbm12
|
UTSW |
2 |
155,938,015 (GRCm39) |
intron |
probably benign |
|
|
RF033:Rbm12
|
UTSW |
2 |
155,938,002 (GRCm39) |
intron |
probably benign |
|
|
RF033:Rbm12
|
UTSW |
2 |
155,938,000 (GRCm39) |
intron |
probably benign |
|
|
RF033:Rbm12
|
UTSW |
2 |
155,937,999 (GRCm39) |
intron |
probably benign |
|
|
RF033:Rbm12
|
UTSW |
2 |
155,938,004 (GRCm39) |
intron |
probably benign |
|
|
RF033:Rbm12
|
UTSW |
2 |
155,938,003 (GRCm39) |
intron |
probably benign |
|
|
RF038:Rbm12
|
UTSW |
2 |
155,938,026 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATATGACCTCCAGCAGCTAC -3'
(R):5'- CTGCTGGAATGAATGGCTCTG -3'
Sequencing Primer
(F):5'- CTCTGTGGCAGGACTGACTTC -3'
(R):5'- TGGAGCACCTATCGGTCTGAAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation