Incidental Mutation 'R7483:Rbm12'
ID |
579890 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm12
|
Ensembl Gene |
ENSMUSG00000089824 |
Gene Name |
RNA binding motif protein 12 |
Synonyms |
SWAN, 9430070C08Rik, 5730420G12Rik |
MMRRC Submission |
045557-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.902)
|
Stock # |
R7483 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
155933876-155953847 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155940138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 45
(I45V)
|
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 |
unknown
Transcript: ENSMUST00000059647
AA Change: I45V
|
SMART Domains |
Protein: ENSMUSP00000050461 Gene: ENSMUSG00000089824 AA Change: I45V
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 |
unknown
Transcript: ENSMUST00000109604
AA Change: I45V
|
SMART Domains |
Protein: ENSMUSP00000105233 Gene: ENSMUSG00000089824 AA Change: I45V
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 |
probably benign
Transcript: ENSMUST00000127956
|
SMART Domains |
Protein: ENSMUSP00000114923 Gene: ENSMUSG00000098950
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 |
unknown
Transcript: ENSMUST00000128499
AA Change: I45V
|
SMART Domains |
Protein: ENSMUSP00000118067 Gene: ENSMUSG00000089824 AA Change: I45V
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 |
unknown
Transcript: ENSMUST00000131377
AA Change: I45V
|
SMART Domains |
Protein: ENSMUSP00000120731 Gene: ENSMUSG00000089824 AA Change: I45V
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 |
unknown
Transcript: ENSMUST00000132494
AA Change: I45V
|
SMART Domains |
Protein: ENSMUSP00000139175 Gene: ENSMUSG00000098950 AA Change: I45V
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 |
unknown
Transcript: ENSMUST00000138068
AA Change: I45V
|
SMART Domains |
Protein: ENSMUSP00000119519 Gene: ENSMUSG00000089824 AA Change: I45V
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
AA Change: I45V
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000139177 Gene: ENSMUSG00000098950 AA Change: I45V
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
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: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
A |
T |
5: 121,794,075 (GRCm39) |
|
probably null |
Het |
Ahnak |
T |
C |
19: 8,982,186 (GRCm39) |
S1157P |
probably damaging |
Het |
Akap12 |
T |
G |
10: 4,303,967 (GRCm39) |
V364G |
probably benign |
Het |
Ankrd17 |
A |
G |
5: 90,447,855 (GRCm39) |
S229P |
probably benign |
Het |
Apof |
A |
T |
10: 128,104,636 (GRCm39) |
Y5F |
probably benign |
Het |
Arhgap24 |
T |
A |
5: 102,989,174 (GRCm39) |
M94K |
probably benign |
Het |
Ash2l |
G |
T |
8: 26,312,798 (GRCm39) |
D479E |
probably damaging |
Het |
Atp8a2 |
A |
T |
14: 60,245,824 (GRCm39) |
C623S |
probably benign |
Het |
Bmper |
T |
A |
9: 23,395,238 (GRCm39) |
N656K |
probably benign |
Het |
Braf |
T |
C |
6: 39,604,772 (GRCm39) |
I619V |
possibly damaging |
Het |
Brwd1 |
T |
C |
16: 95,857,373 (GRCm39) |
R396G |
probably damaging |
Het |
Car7 |
A |
T |
8: 105,276,216 (GRCm39) |
T234S |
probably benign |
Het |
Catsper4 |
A |
T |
4: 133,945,552 (GRCm39) |
V169E |
probably damaging |
Het |
Cemip |
T |
G |
7: 83,647,784 (GRCm39) |
I99L |
probably damaging |
Het |
Chrna7 |
C |
A |
7: 62,754,738 (GRCm39) |
V290L |
probably damaging |
Het |
Clip1 |
A |
T |
5: 123,755,447 (GRCm39) |
D944E |
probably benign |
Het |
Cplane2 |
A |
G |
4: 140,947,153 (GRCm39) |
D178G |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,677,581 (GRCm39) |
T470A |
probably benign |
Het |
Dmbx1 |
G |
T |
4: 115,780,908 (GRCm39) |
A31D |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,214,579 (GRCm39) |
F1115L |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,493,283 (GRCm39) |
I1897V |
probably benign |
Het |
Efcab3 |
A |
G |
11: 105,000,112 (GRCm39) |
I234V |
probably benign |
Het |
Eid2b |
T |
G |
7: 27,977,243 (GRCm39) |
L13R |
probably damaging |
Het |
Enam |
A |
G |
5: 88,649,679 (GRCm39) |
Y396C |
probably damaging |
Het |
Fam161a |
A |
T |
11: 22,971,006 (GRCm39) |
T395S |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,476,197 (GRCm39) |
R1748G |
probably benign |
Het |
Fdxacb1 |
C |
A |
9: 50,681,451 (GRCm39) |
T124K |
possibly damaging |
Het |
Fer1l6 |
A |
T |
15: 58,513,794 (GRCm39) |
D1563V |
possibly damaging |
Het |
Gm20834 |
T |
C |
Y: 10,323,226 (GRCm39) |
H70R |
probably damaging |
Het |
Gucy2d |
T |
A |
7: 98,098,964 (GRCm39) |
M261K |
probably damaging |
Het |
Hcar2 |
T |
A |
5: 124,002,861 (GRCm39) |
Q214L |
probably benign |
Het |
Hdac11 |
C |
T |
6: 91,136,214 (GRCm39) |
H75Y |
probably damaging |
Het |
Hoxa2 |
C |
A |
6: 52,141,279 (GRCm39) |
A116S |
probably benign |
Het |
Ints2 |
A |
G |
11: 86,106,444 (GRCm39) |
C989R |
probably damaging |
Het |
Jpt1 |
T |
C |
11: 115,393,950 (GRCm39) |
E36G |
probably damaging |
Het |
Kdm5d |
G |
A |
Y: 914,044 (GRCm39) |
R327Q |
possibly damaging |
Het |
Klhl1 |
T |
C |
14: 96,584,304 (GRCm39) |
M309V |
probably benign |
Het |
Larp4 |
A |
G |
15: 99,889,659 (GRCm39) |
K193E |
probably benign |
Het |
Lmo3 |
C |
T |
6: 138,393,500 (GRCm39) |
C40Y |
probably damaging |
Het |
Mcm4 |
A |
G |
16: 15,448,306 (GRCm39) |
V417A |
probably benign |
Het |
Med8 |
A |
G |
4: 118,268,176 (GRCm39) |
E34G |
probably damaging |
Het |
Mex3b |
G |
T |
7: 82,517,114 (GRCm39) |
A86S |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,224,245 (GRCm39) |
T1646A |
unknown |
Het |
Myo15b |
A |
T |
11: 115,749,570 (GRCm39) |
E113D |
|
Het |
Myo7a |
T |
A |
7: 97,712,881 (GRCm39) |
H1698L |
probably benign |
Het |
Myocos |
T |
A |
1: 162,484,678 (GRCm39) |
M44L |
unknown |
Het |
Nalcn |
A |
G |
14: 123,551,499 (GRCm39) |
V1036A |
probably damaging |
Het |
Nfrkb |
C |
T |
9: 31,325,328 (GRCm39) |
Q924* |
probably null |
Het |
Nol6 |
A |
G |
4: 41,117,424 (GRCm39) |
L923P |
possibly damaging |
Het |
Nrxn3 |
T |
C |
12: 89,477,232 (GRCm39) |
Y472H |
probably damaging |
Het |
Nudcd1 |
A |
G |
15: 44,269,253 (GRCm39) |
Y136H |
possibly damaging |
Het |
Obox2 |
T |
C |
7: 15,131,241 (GRCm39) |
C116R |
probably damaging |
Het |
Onecut3 |
A |
T |
10: 80,331,310 (GRCm39) |
S157C |
unknown |
Het |
Or10ak11 |
A |
G |
4: 118,687,517 (GRCm39) |
V39A |
probably damaging |
Het |
Or11g27 |
T |
A |
14: 50,771,472 (GRCm39) |
V201D |
probably benign |
Het |
Or2d2b |
T |
A |
7: 106,705,982 (GRCm39) |
I29F |
probably benign |
Het |
Or4f15 |
T |
C |
2: 111,814,124 (GRCm39) |
I98M |
probably damaging |
Het |
Oscp1 |
C |
T |
4: 125,967,726 (GRCm39) |
R91* |
probably null |
Het |
Pclo |
A |
T |
5: 14,762,606 (GRCm39) |
D408V |
|
Het |
Pde8a |
T |
C |
7: 80,932,581 (GRCm39) |
V81A |
probably benign |
Het |
Pde8b |
T |
A |
13: 95,164,251 (GRCm39) |
D653V |
probably damaging |
Het |
Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pik3cg |
T |
C |
12: 32,245,647 (GRCm39) |
Y867C |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Psd4 |
A |
T |
2: 24,294,768 (GRCm39) |
D776V |
possibly damaging |
Het |
Ptprb |
A |
G |
10: 116,119,334 (GRCm39) |
E156G |
probably benign |
Het |
Rad54b |
A |
G |
4: 11,610,372 (GRCm39) |
Y663C |
probably damaging |
Het |
Ranbp3l |
T |
A |
15: 9,030,955 (GRCm39) |
V78D |
possibly damaging |
Het |
Scn9a |
A |
G |
2: 66,363,692 (GRCm39) |
V862A |
probably damaging |
Het |
Sdcbp |
T |
C |
4: 6,393,089 (GRCm39) |
I242T |
possibly damaging |
Het |
Slc25a24 |
A |
G |
3: 109,066,751 (GRCm39) |
T302A |
probably damaging |
Het |
Slc45a3 |
G |
T |
1: 131,904,549 (GRCm39) |
|
probably benign |
Het |
Srpk1 |
T |
C |
17: 28,813,192 (GRCm39) |
I517M |
probably benign |
Het |
Tmx4 |
A |
G |
2: 134,481,581 (GRCm39) |
M114T |
probably benign |
Het |
Trhr |
T |
A |
15: 44,092,627 (GRCm39) |
V288D |
probably damaging |
Het |
Tspoap1 |
A |
T |
11: 87,652,351 (GRCm39) |
I42F |
probably benign |
Het |
Ttn |
A |
T |
2: 76,781,856 (GRCm39) |
D1063E |
unknown |
Het |
Tusc3 |
A |
G |
8: 39,538,635 (GRCm39) |
I225V |
probably benign |
Het |
Ugt2b38 |
A |
G |
5: 87,571,973 (GRCm39) |
S20P |
probably damaging |
Het |
Upf2 |
A |
G |
2: 6,032,219 (GRCm39) |
T922A |
unknown |
Het |
Usp38 |
C |
T |
8: 81,741,190 (GRCm39) |
|
probably benign |
Het |
Vmn1r216 |
A |
G |
13: 23,283,738 (GRCm39) |
I140M |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,565,371 (GRCm39) |
N419K |
possibly damaging |
Het |
Vmn2r55 |
C |
T |
7: 12,404,755 (GRCm39) |
G216D |
probably benign |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wnt7b |
C |
A |
15: 85,421,615 (GRCm39) |
R349L |
possibly damaging |
Het |
Xbp1 |
T |
C |
11: 5,471,098 (GRCm39) |
V35A |
probably benign |
Het |
Zan |
A |
T |
5: 137,445,057 (GRCm39) |
M1734K |
unknown |
Het |
Zfhx4 |
A |
G |
3: 5,477,237 (GRCm39) |
E3284G |
probably damaging |
Het |
Zfp458 |
A |
G |
13: 67,404,978 (GRCm39) |
L487S |
possibly damaging |
Het |
Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
probably damaging |
Het |
Zp1 |
A |
G |
19: 10,895,280 (GRCm39) |
L324P |
possibly 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 |
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 |
R9262:Rbm12
|
UTSW |
2 |
155,939,317 (GRCm39) |
missense |
possibly damaging |
0.49 |
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'- GCATTTGCTGGCGGAATATC -3'
(R):5'- AGCTGGTCATTCTTGCAACTAAG -3'
Sequencing Primer
(F):5'- CTAAGTTGGCAGTTTCAAAACGC -3'
(R):5'- TCATAATAAGGAGTCTGACATGGCC -3'
|
Posted On |
2019-10-07 |