Incidental Mutation 'R7424:Rbm12'
| ID |
575899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm12
|
| Ensembl Gene |
ENSMUSG00000089824 |
| Gene Name |
RNA binding motif protein 12 |
| Synonyms |
SWAN, 5730420G12Rik, 9430070C08Rik |
| MMRRC Submission |
045502-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.887)
|
| Stock # |
R7424 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156091958-156111978 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156097303 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 350
(F350L)
|
| 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: F350L
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: F350L
| 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: F350L
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: F350L
| 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: F261L
| 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: F350L
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950
AA Change: F350L
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (76/77) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
C |
T |
8: 120,145,545 (GRCm38) |
R71C |
probably damaging |
Het |
| Aanat |
A |
T |
11: 116,595,629 (GRCm38) |
|
probably benign |
Het |
| Ahrr |
G |
T |
13: 74,257,545 (GRCm38) |
S91* |
probably null |
Het |
| Ampd1 |
A |
T |
3: 103,088,442 (GRCm38) |
N223Y |
probably benign |
Het |
| Ankar |
T |
G |
1: 72,680,058 (GRCm38) |
N544T |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,418,750 (GRCm38) |
S302P |
possibly damaging |
Het |
| Bcr |
T |
C |
10: 75,157,100 (GRCm38) |
V809A |
probably benign |
Het |
| Bpifb2 |
A |
G |
2: 153,890,540 (GRCm38) |
N353S |
possibly damaging |
Het |
| Cyth1 |
A |
T |
11: 118,184,009 (GRCm38) |
|
probably null |
Het |
| Ddx5 |
A |
T |
11: 106,782,180 (GRCm38) |
N506K |
probably benign |
Het |
| Dnaja1 |
A |
T |
4: 40,730,244 (GRCm38) |
I239F |
probably benign |
Het |
| Ethe1 |
C |
T |
7: 24,606,251 (GRCm38) |
T141I |
probably damaging |
Het |
| Fam160b2 |
T |
C |
14: 70,594,007 (GRCm38) |
H29R |
probably damaging |
Het |
| Gdap2 |
A |
T |
3: 100,202,066 (GRCm38) |
I36F |
unknown |
Het |
| Gm13030 |
A |
T |
4: 138,871,266 (GRCm38) |
D115E |
unknown |
Het |
| Gm13103 |
C |
T |
4: 143,853,209 (GRCm38) |
P455S |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,029,372 (GRCm38) |
L227Q |
probably damaging |
Het |
| Gm9195 |
T |
A |
14: 72,435,777 (GRCm38) |
E2517D |
possibly damaging |
Het |
| Gramd2 |
T |
A |
9: 59,708,071 (GRCm38) |
V39D |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,630,266 (GRCm38) |
W3836* |
probably null |
Het |
| Hspa14 |
C |
T |
2: 3,489,041 (GRCm38) |
D494N |
possibly damaging |
Het |
| Ifit2 |
A |
G |
19: 34,573,198 (GRCm38) |
N46S |
probably benign |
Het |
| Ifna6 |
A |
T |
4: 88,827,807 (GRCm38) |
E131V |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,037,036 (GRCm38) |
V504A |
possibly damaging |
Het |
| Irgc1 |
T |
C |
7: 24,432,228 (GRCm38) |
N388S |
probably damaging |
Het |
| Itgal |
T |
A |
7: 127,317,365 (GRCm38) |
V743E |
probably benign |
Het |
| Itih5 |
T |
C |
2: 10,245,637 (GRCm38) |
S716P |
probably damaging |
Het |
| Kcnab1 |
A |
T |
3: 65,266,503 (GRCm38) |
K78N |
possibly damaging |
Het |
| Kif1a |
A |
T |
1: 93,054,317 (GRCm38) |
V787E |
possibly damaging |
Het |
| Krt15 |
A |
T |
11: 100,135,560 (GRCm38) |
V100E |
possibly damaging |
Het |
| Krt39 |
A |
T |
11: 99,518,091 (GRCm38) |
V293E |
probably damaging |
Het |
| Lrrn4 |
A |
G |
2: 132,869,743 (GRCm38) |
F720S |
possibly damaging |
Het |
| Map2 |
G |
A |
1: 66,414,824 (GRCm38) |
A958T |
possibly damaging |
Het |
| Map3k9 |
A |
G |
12: 81,724,097 (GRCm38) |
S906P |
probably benign |
Het |
| Mdc1 |
T |
C |
17: 35,853,309 (GRCm38) |
S1250P |
probably benign |
Het |
| Meltf |
G |
A |
16: 31,884,946 (GRCm38) |
V164I |
probably damaging |
Het |
| Mtap |
T |
G |
4: 89,179,462 (GRCm38) |
|
probably null |
Het |
| Mtus1 |
C |
A |
8: 41,022,406 (GRCm38) |
V184F |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,213,663 (GRCm38) |
D1015V |
probably damaging |
Het |
| Ndrg1 |
T |
C |
15: 66,944,938 (GRCm38) |
|
probably null |
Het |
| Nkd1 |
G |
T |
8: 88,585,175 (GRCm38) |
V130L |
probably benign |
Het |
| Nsfl1c |
A |
G |
2: 151,500,753 (GRCm38) |
D81G |
probably benign |
Het |
| Nt5c1b |
T |
A |
12: 10,381,391 (GRCm38) |
|
probably null |
Het |
| Nucb1 |
T |
C |
7: 45,498,778 (GRCm38) |
K204E |
possibly damaging |
Het |
| Nwd1 |
T |
G |
8: 72,675,173 (GRCm38) |
M774R |
possibly damaging |
Het |
| Olfr165 |
A |
T |
16: 19,407,194 (GRCm38) |
V274E |
probably damaging |
Het |
| Olfr262 |
A |
T |
19: 12,240,954 (GRCm38) |
S236T |
possibly damaging |
Het |
| Olfr654 |
G |
C |
7: 104,588,700 (GRCm38) |
E299Q |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,536,272 (GRCm38) |
|
probably null |
Het |
| Pcdh15 |
A |
T |
10: 74,506,485 (GRCm38) |
T1135S |
probably benign |
Het |
| Pfas |
A |
G |
11: 69,000,092 (GRCm38) |
I331T |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,806,339 (GRCm38) |
I1641N |
probably damaging |
Het |
| Ptar1 |
A |
T |
19: 23,718,101 (GRCm38) |
R311W |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,479,194 (GRCm38) |
M1912R |
probably damaging |
Het |
| Sdhaf1 |
T |
C |
7: 30,322,043 (GRCm38) |
D96G |
probably benign |
Het |
| Serpinb6b |
T |
A |
13: 32,968,667 (GRCm38) |
M53K |
probably damaging |
Het |
| Sh2d6 |
A |
T |
6: 72,517,164 (GRCm38) |
L147Q |
probably benign |
Het |
| Slc19a2 |
T |
A |
1: 164,260,876 (GRCm38) |
C298S |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,660,334 (GRCm38) |
|
probably benign |
Het |
| St8sia2 |
T |
A |
7: 73,960,902 (GRCm38) |
Q211L |
possibly damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,734,897 (GRCm38) |
I96T |
possibly damaging |
Het |
| Tab2 |
G |
T |
10: 7,907,483 (GRCm38) |
H678Q |
probably damaging |
Het |
| Tnfaip6 |
A |
G |
2: 52,038,216 (GRCm38) |
E14G |
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,885,198 (GRCm38) |
L869H |
probably damaging |
Het |
| Tslp |
T |
C |
18: 32,819,080 (GRCm38) |
Y133H |
not run |
Het |
| Ttn |
A |
G |
2: 76,932,143 (GRCm38) |
V3374A |
unknown |
Het |
| Ttn |
T |
C |
2: 76,740,990 (GRCm38) |
I26520V |
probably damaging |
Het |
| Tubgcp2 |
T |
A |
7: 140,007,924 (GRCm38) |
I263F |
possibly damaging |
Het |
| Uaca |
A |
G |
9: 60,870,110 (GRCm38) |
E593G |
probably damaging |
Het |
| Unc13b |
C |
T |
4: 43,172,235 (GRCm38) |
T1021I |
unknown |
Het |
| Ush1c |
T |
A |
7: 46,225,555 (GRCm38) |
I131F |
probably benign |
Het |
| Usp24 |
C |
A |
4: 106,379,107 (GRCm38) |
D997E |
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,577,040 (GRCm38) |
T517A |
probably benign |
Het |
| Vmn1r151 |
A |
T |
7: 22,499,080 (GRCm38) |
M200K |
possibly damaging |
Het |
| Vmn2r43 |
T |
C |
7: 8,255,329 (GRCm38) |
D295G |
probably damaging |
Het |
| Vmn2r70 |
G |
A |
7: 85,563,868 (GRCm38) |
P444S |
probably damaging |
Het |
| Vmn2r85 |
G |
T |
10: 130,418,980 (GRCm38) |
P612T |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 145,148,747 (GRCm38) |
V1736D |
|
Het |
| Zbtb11 |
A |
T |
16: 55,990,487 (GRCm38) |
H336L |
probably benign |
Het |
|
| Other mutations in Rbm12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00578:Rbm12
|
APN |
2 |
156,096,041 (GRCm38) |
intron |
probably benign |
|
|
IGL01307:Rbm12
|
APN |
2 |
156,095,382 (GRCm38) |
intron |
probably benign |
|
|
IGL02474:Rbm12
|
APN |
2 |
156,098,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02596:Rbm12
|
APN |
2 |
156,095,560 (GRCm38) |
intron |
probably benign |
|
|
IGL02601:Rbm12
|
APN |
2 |
156,095,560 (GRCm38) |
intron |
probably benign |
|
|
IGL02603:Rbm12
|
APN |
2 |
156,095,560 (GRCm38) |
intron |
probably benign |
|
|
IGL02608:Rbm12
|
APN |
2 |
156,095,898 (GRCm38) |
intron |
probably benign |
|
|
IGL02679:Rbm12
|
APN |
2 |
156,095,560 (GRCm38) |
intron |
probably benign |
|
|
IGL02691:Rbm12
|
APN |
2 |
156,095,560 (GRCm38) |
intron |
probably benign |
|
|
IGL02693:Rbm12
|
APN |
2 |
156,095,560 (GRCm38) |
intron |
probably benign |
|
|
IGL02702:Rbm12
|
APN |
2 |
156,095,560 (GRCm38) |
intron |
probably benign |
|
|
IGL02703:Rbm12
|
APN |
2 |
156,095,560 (GRCm38) |
intron |
probably benign |
|
|
IGL03407:Rbm12
|
APN |
2 |
156,097,564 (GRCm38) |
nonsense |
probably null |
|
|
IGL02991:Rbm12
|
UTSW |
2 |
156,095,560 (GRCm38) |
intron |
probably benign |
|
|
R0310:Rbm12
|
UTSW |
2 |
156,095,724 (GRCm38) |
intron |
probably benign |
|
|
R1213:Rbm12
|
UTSW |
2 |
156,097,492 (GRCm38) |
nonsense |
probably null |
|
|
R1280:Rbm12
|
UTSW |
2 |
156,096,829 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1511:Rbm12
|
UTSW |
2 |
156,097,536 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1951:Rbm12
|
UTSW |
2 |
156,097,213 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2131:Rbm12
|
UTSW |
2 |
156,095,510 (GRCm38) |
nonsense |
probably null |
|
|
R2133:Rbm12
|
UTSW |
2 |
156,095,510 (GRCm38) |
nonsense |
probably null |
|
|
R2883:Rbm12
|
UTSW |
2 |
156,097,075 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4760:Rbm12
|
UTSW |
2 |
156,097,128 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4783:Rbm12
|
UTSW |
2 |
156,096,564 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4784:Rbm12
|
UTSW |
2 |
156,096,564 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4785:Rbm12
|
UTSW |
2 |
156,096,564 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4794:Rbm12
|
UTSW |
2 |
156,095,569 (GRCm38) |
intron |
probably benign |
|
|
R5057:Rbm12
|
UTSW |
2 |
156,096,886 (GRCm38) |
missense |
probably benign |
0.18 |
|
R5383:Rbm12
|
UTSW |
2 |
156,103,365 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5599:Rbm12
|
UTSW |
2 |
156,096,793 (GRCm38) |
nonsense |
probably null |
|
|
R5979:Rbm12
|
UTSW |
2 |
156,097,759 (GRCm38) |
intron |
probably benign |
|
|
R6083:Rbm12
|
UTSW |
2 |
156,097,726 (GRCm38) |
intron |
probably benign |
|
|
R6769:Rbm12
|
UTSW |
2 |
156,097,455 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6771:Rbm12
|
UTSW |
2 |
156,097,455 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7233:Rbm12
|
UTSW |
2 |
156,095,974 (GRCm38) |
missense |
unknown |
|
|
R7483:Rbm12
|
UTSW |
2 |
156,098,218 (GRCm38) |
missense |
unknown |
|
|
R7643:Rbm12
|
UTSW |
2 |
156,098,217 (GRCm38) |
missense |
unknown |
|
|
R7848:Rbm12
|
UTSW |
2 |
156,096,216 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8556:Rbm12
|
UTSW |
2 |
156,096,561 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8866:Rbm12
|
UTSW |
2 |
156,096,773 (GRCm38) |
nonsense |
probably null |
|
|
R8875:Rbm12
|
UTSW |
2 |
156,096,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9054:Rbm12
|
UTSW |
2 |
156,095,561 (GRCm38) |
missense |
unknown |
|
|
R9115:Rbm12
|
UTSW |
2 |
156,096,110 (GRCm38) |
intron |
probably benign |
|
|
R9179:Rbm12
|
UTSW |
2 |
156,096,543 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9262:Rbm12
|
UTSW |
2 |
156,097,397 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R9495:Rbm12
|
UTSW |
2 |
156,097,818 (GRCm38) |
missense |
unknown |
|
|
R9656:Rbm12
|
UTSW |
2 |
156,098,201 (GRCm38) |
missense |
unknown |
|
|
R9701:Rbm12
|
UTSW |
2 |
156,096,246 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9759:Rbm12
|
UTSW |
2 |
156,096,626 (GRCm38) |
missense |
probably benign |
0.03 |
|
RF001:Rbm12
|
UTSW |
2 |
156,096,075 (GRCm38) |
intron |
probably benign |
|
|
RF021:Rbm12
|
UTSW |
2 |
156,096,106 (GRCm38) |
intron |
probably benign |
|
|
RF028:Rbm12
|
UTSW |
2 |
156,096,130 (GRCm38) |
frame shift |
probably null |
|
|
RF029:Rbm12
|
UTSW |
2 |
156,096,095 (GRCm38) |
intron |
probably benign |
|
|
RF033:Rbm12
|
UTSW |
2 |
156,096,082 (GRCm38) |
intron |
probably benign |
|
|
RF033:Rbm12
|
UTSW |
2 |
156,096,080 (GRCm38) |
intron |
probably benign |
|
|
RF033:Rbm12
|
UTSW |
2 |
156,096,079 (GRCm38) |
intron |
probably benign |
|
|
RF033:Rbm12
|
UTSW |
2 |
156,096,084 (GRCm38) |
intron |
probably benign |
|
|
RF033:Rbm12
|
UTSW |
2 |
156,096,083 (GRCm38) |
intron |
probably benign |
|
|
RF038:Rbm12
|
UTSW |
2 |
156,096,106 (GRCm38) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCATGTGGTGATCTTGATCTTGAC -3'
(R):5'- AGCAGCGTGAAGTCTCTTCC -3'
Sequencing Primer
(F):5'- CCACTGGGCGATTTTGACC -3'
(R):5'- AGCGTGAAGTCTCTTCCCATCAAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation