Incidental Mutation 'R1951:Rbm12'
| ID |
217274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm12
|
| Ensembl Gene |
ENSMUSG00000089824 |
| Gene Name |
RNA binding motif protein 12 |
| Synonyms |
SWAN, 9430070C08Rik, 5730420G12Rik |
| MMRRC Submission |
039965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
R1951 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155933876-155953847 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155939133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 380
(R380G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059647]
[ENSMUST00000079312]
[ENSMUST00000109604]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000128499]
[ENSMUST00000132494]
[ENSMUST00000131377]
[ENSMUST00000147627]
[ENSMUST00000136296]
[ENSMUST00000142960]
[ENSMUST00000138068]
[ENSMUST00000154889]
[ENSMUST00000133921]
[ENSMUST00000153634]
[ENSMUST00000183518]
[ENSMUST00000184152]
[ENSMUST00000184899]
[ENSMUST00000183972]
[ENSMUST00000184265]
|
| AlphaFold |
Q8R4X3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059647
AA Change: R380G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: R380G
| 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 |
probably damaging
Transcript: ENSMUST00000109604
AA Change: R380G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: R380G
| 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 |
unknown
Transcript: ENSMUST00000127956
AA Change: R291G
|
| SMART Domains |
Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950
AA Change: R291G
| 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 damaging
Transcript: ENSMUST00000132494
AA Change: R380G
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950
AA Change: R380G
| 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 |
noncoding transcript
Transcript: ENSMUST00000142975
|
| 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183972
|
| 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 |
|
| Meta Mutation Damage Score |
0.3848 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
98% (84/86) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
C |
T |
7: 119,960,655 (GRCm39) |
R706C |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,258,624 (GRCm39) |
F847S |
probably benign |
Het |
| Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
| Arhgap28 |
G |
A |
17: 68,208,336 (GRCm39) |
A44V |
probably benign |
Het |
| Asap3 |
C |
T |
4: 135,954,767 (GRCm39) |
R60* |
probably null |
Het |
| Baz1b |
T |
A |
5: 135,245,593 (GRCm39) |
N347K |
probably benign |
Het |
| Best2 |
T |
A |
8: 85,737,858 (GRCm39) |
N179I |
possibly damaging |
Het |
| Bfar |
C |
T |
16: 13,519,970 (GRCm39) |
S276L |
probably damaging |
Het |
| Bloc1s3 |
A |
G |
7: 19,241,483 (GRCm39) |
V15A |
possibly damaging |
Het |
| Borcs5 |
A |
G |
6: 134,687,230 (GRCm39) |
H196R |
unknown |
Het |
| Calhm3 |
A |
G |
19: 47,140,256 (GRCm39) |
L279P |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,043,925 (GRCm39) |
|
probably benign |
Het |
| Car15 |
T |
C |
16: 17,655,269 (GRCm39) |
D57G |
possibly damaging |
Het |
| Casp12 |
G |
A |
9: 5,348,959 (GRCm39) |
|
probably null |
Het |
| Cd93 |
T |
C |
2: 148,283,778 (GRCm39) |
T523A |
probably benign |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Ckap5 |
A |
G |
2: 91,386,837 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,814,156 (GRCm39) |
R619W |
unknown |
Het |
| Colec12 |
G |
A |
18: 9,859,975 (GRCm39) |
|
probably null |
Het |
| Crmp1 |
G |
A |
5: 37,430,699 (GRCm39) |
V222I |
possibly damaging |
Het |
| Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
| Ctbp2 |
A |
G |
7: 132,616,756 (GRCm39) |
S60P |
probably benign |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,972 (GRCm39) |
Y282C |
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,391,694 (GRCm39) |
I551V |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,206,537 (GRCm39) |
|
probably benign |
Het |
| Dlgap1 |
A |
T |
17: 71,068,306 (GRCm39) |
I300F |
probably damaging |
Het |
| Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,061,704 (GRCm39) |
R2794* |
probably null |
Het |
| Fcgr1 |
G |
A |
3: 96,194,386 (GRCm39) |
T167I |
probably damaging |
Het |
| Fgl1 |
G |
T |
8: 41,650,387 (GRCm39) |
F187L |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,860,242 (GRCm39) |
V2096E |
probably benign |
Het |
| Gm10647 |
A |
G |
9: 66,705,762 (GRCm39) |
|
probably benign |
Het |
| Gm14226 |
G |
A |
2: 154,866,255 (GRCm39) |
D71N |
possibly damaging |
Het |
| Grip2 |
A |
T |
6: 91,760,829 (GRCm39) |
I284N |
probably damaging |
Het |
| Hirip3 |
A |
G |
7: 126,462,038 (GRCm39) |
R19G |
probably damaging |
Het |
| Ift70b |
A |
G |
2: 75,767,586 (GRCm39) |
L389P |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,438 (GRCm39) |
N174D |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,929,317 (GRCm39) |
D1078G |
probably damaging |
Het |
| Khdc3 |
T |
C |
9: 73,010,519 (GRCm39) |
V123A |
possibly damaging |
Het |
| Klhl13 |
A |
G |
X: 23,127,820 (GRCm39) |
|
probably benign |
Het |
| Klhl42 |
T |
C |
6: 146,993,321 (GRCm39) |
S98P |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,670,298 (GRCm39) |
N602S |
possibly damaging |
Het |
| Lrrd1 |
A |
T |
5: 3,901,488 (GRCm39) |
I598F |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,458,372 (GRCm39) |
T318A |
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,748,517 (GRCm39) |
F116S |
probably damaging |
Het |
| Ncam1 |
T |
C |
9: 49,456,492 (GRCm39) |
I486V |
probably benign |
Het |
| Nptx1 |
A |
G |
11: 119,434,006 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
T |
C |
8: 32,408,221 (GRCm39) |
Y4C |
probably damaging |
Het |
| Nsf |
G |
A |
11: 103,773,702 (GRCm39) |
R271* |
probably null |
Het |
| Or5d39 |
A |
G |
2: 87,979,641 (GRCm39) |
S241P |
possibly damaging |
Het |
| Or8g24 |
T |
A |
9: 38,989,580 (GRCm39) |
I154F |
probably benign |
Het |
| Or8k18 |
G |
C |
2: 86,085,440 (GRCm39) |
T199S |
probably benign |
Het |
| Or8k21 |
T |
A |
2: 86,145,504 (GRCm39) |
N42I |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,215,855 (GRCm39) |
H302Q |
probably benign |
Het |
| Pax2 |
A |
G |
19: 44,777,271 (GRCm39) |
T155A |
probably benign |
Het |
| Pdia4 |
A |
G |
6: 47,780,813 (GRCm39) |
Y212H |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,946,954 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
G |
T |
11: 71,965,450 (GRCm39) |
H112N |
possibly damaging |
Het |
| Ppargc1b |
G |
T |
18: 61,431,848 (GRCm39) |
T1000K |
possibly damaging |
Het |
| Psd3 |
C |
A |
8: 68,416,139 (GRCm39) |
C586F |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,247,575 (GRCm39) |
S587T |
probably benign |
Het |
| Rabep2 |
A |
T |
7: 126,037,736 (GRCm39) |
R169S |
possibly damaging |
Het |
| Rad21l |
T |
C |
2: 151,497,179 (GRCm39) |
R309G |
probably benign |
Het |
| Selp |
A |
G |
1: 163,954,081 (GRCm39) |
N127S |
probably benign |
Het |
| Slc12a2 |
A |
G |
18: 58,012,467 (GRCm39) |
T197A |
possibly damaging |
Het |
| Slc22a18 |
C |
T |
7: 143,029,984 (GRCm39) |
T17I |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,065,868 (GRCm39) |
E2026G |
possibly damaging |
Het |
| Srf |
A |
T |
17: 46,862,633 (GRCm39) |
M285K |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,622,156 (GRCm39) |
V425A |
possibly damaging |
Het |
| Tle4 |
A |
T |
19: 14,493,721 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
A |
G |
11: 82,335,908 (GRCm39) |
R905G |
possibly damaging |
Het |
| Tmem200c |
A |
T |
17: 69,147,983 (GRCm39) |
I189F |
probably damaging |
Het |
| Trappc13 |
T |
C |
13: 104,311,150 (GRCm39) |
Q87R |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,673,219 (GRCm39) |
D511E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,632,634 (GRCm39) |
I14140N |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,513,907 (GRCm39) |
D587G |
probably benign |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,731 (GRCm39) |
L239P |
probably damaging |
Het |
| Vmn2r68 |
A |
G |
7: 84,883,102 (GRCm39) |
F217L |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,881,041 (GRCm39) |
|
probably null |
Het |
| Vrtn |
T |
C |
12: 84,695,973 (GRCm39) |
V241A |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,927,136 (GRCm39) |
V343D |
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 |
|
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 |
|
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'- TTTCTGCTTCAAATGGTAGCCC -3'
(R):5'- GGAATGCCCTTTTCTGCAATGG -3'
Sequencing Primer
(F):5'- CTGCTTCAAATGGTAGCCCTTTTAAG -3'
(R):5'- GCCCTTTTCTGCAATGGAAAATG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation