Incidental Mutation 'R7233:Rbm12'
| ID |
562606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm12
|
| Ensembl Gene |
ENSMUSG00000089824 |
| Gene Name |
RNA binding motif protein 12 |
| Synonyms |
SWAN, 9430070C08Rik, 5730420G12Rik |
| MMRRC Submission |
045343-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
R7233 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155933876-155953847 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 155937894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 793
(G793S)
|
| 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: G793S
|
| SMART Domains |
Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: G793S
| 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: G793S
|
| SMART Domains |
Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: G793S
| 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 |
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
|
| SMART Domains |
Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950
| 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: 98.8%
|
| Validation Efficiency |
100% (75/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,762,641 (GRCm39) |
K505R |
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 103,026,367 (GRCm39) |
K263E |
probably benign |
Het |
| Ark2n |
C |
A |
18: 77,722,882 (GRCm39) |
V385F |
probably damaging |
Het |
| Armc2 |
A |
T |
10: 41,799,800 (GRCm39) |
V686D |
probably damaging |
Het |
| Bhmt |
T |
A |
13: 93,758,025 (GRCm39) |
K229* |
probably null |
Het |
| Birc2 |
A |
T |
9: 7,827,009 (GRCm39) |
C326S |
probably damaging |
Het |
| Blzf1 |
A |
T |
1: 164,123,512 (GRCm39) |
|
probably null |
Het |
| Camsap3 |
T |
A |
8: 3,650,371 (GRCm39) |
F223Y |
probably damaging |
Het |
| Ccdc126 |
C |
T |
6: 49,316,775 (GRCm39) |
T85M |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,744,088 (GRCm39) |
C279S |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,242,771 (GRCm39) |
L725Q |
probably damaging |
Het |
| Cibar2 |
A |
G |
8: 120,898,661 (GRCm39) |
L131P |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,749,922 (GRCm39) |
E987G |
probably damaging |
Het |
| Cog1 |
G |
T |
11: 113,540,556 (GRCm39) |
R57L |
probably damaging |
Het |
| Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dnttip2 |
T |
C |
3: 122,070,039 (GRCm39) |
V418A |
probably benign |
Het |
| Dop1a |
G |
A |
9: 86,403,749 (GRCm39) |
A186T |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,730,669 (GRCm39) |
S1966P |
possibly damaging |
Het |
| Engase |
T |
A |
11: 118,373,827 (GRCm39) |
V323E |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,447,718 (GRCm39) |
|
probably null |
Het |
| Fpr2 |
G |
T |
17: 18,113,766 (GRCm39) |
W254L |
probably damaging |
Het |
| Frmd3 |
A |
C |
4: 73,932,023 (GRCm39) |
H6P |
probably benign |
Het |
| Fscn1 |
C |
T |
5: 142,956,029 (GRCm39) |
S366L |
possibly damaging |
Het |
| Galt |
T |
A |
4: 41,758,267 (GRCm39) |
I344N |
probably benign |
Het |
| Gfra4 |
A |
T |
2: 130,883,037 (GRCm39) |
V194E |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,735,120 (GRCm39) |
S1497P |
possibly damaging |
Het |
| Igfn1 |
A |
C |
1: 135,897,873 (GRCm39) |
S898A |
probably benign |
Het |
| Igkv1-135 |
T |
C |
6: 67,587,332 (GRCm39) |
S68P |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,107,659 (GRCm39) |
C784S |
probably damaging |
Het |
| Lars2 |
G |
T |
9: 123,241,019 (GRCm39) |
G229* |
probably null |
Het |
| Lats2 |
A |
T |
14: 57,960,151 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
A |
C |
1: 134,928,214 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
A |
T |
10: 127,430,930 (GRCm39) |
I373N |
probably damaging |
Het |
| Maml2 |
A |
T |
9: 13,532,067 (GRCm39) |
H427L |
|
Het |
| Mansc1 |
A |
G |
6: 134,598,806 (GRCm39) |
V37A |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,905,077 (GRCm39) |
V738A |
possibly damaging |
Het |
| Mastl |
A |
G |
2: 23,023,670 (GRCm39) |
I351T |
probably benign |
Het |
| Mcmdc2 |
T |
G |
1: 10,002,408 (GRCm39) |
|
probably null |
Het |
| Mrgprd |
A |
G |
7: 144,875,672 (GRCm39) |
D181G |
possibly damaging |
Het |
| Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
| Msra |
T |
C |
14: 64,360,714 (GRCm39) |
Y209C |
probably damaging |
Het |
| Musk |
A |
G |
4: 58,373,307 (GRCm39) |
E759G |
possibly damaging |
Het |
| Nab1 |
T |
C |
1: 52,498,378 (GRCm39) |
*487W |
probably null |
Het |
| Or2z9 |
A |
G |
8: 72,853,900 (GRCm39) |
T99A |
probably benign |
Het |
| Or5p66 |
T |
A |
7: 107,885,923 (GRCm39) |
T137S |
probably benign |
Het |
| Pkdrej |
A |
G |
15: 85,705,349 (GRCm39) |
S196P |
probably damaging |
Het |
| Pln |
A |
G |
10: 53,220,008 (GRCm39) |
T17A |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,581,619 (GRCm39) |
|
probably null |
Het |
| Ppp1r14a |
T |
A |
7: 28,988,949 (GRCm39) |
Y64N |
probably damaging |
Het |
| Ppp1r9a |
A |
T |
6: 5,134,804 (GRCm39) |
H959L |
probably benign |
Het |
| Pramel42 |
A |
T |
5: 94,685,524 (GRCm39) |
M395L |
probably benign |
Het |
| Prmt7 |
A |
G |
8: 106,946,642 (GRCm39) |
T75A |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,194,816 (GRCm39) |
S319G |
possibly damaging |
Het |
| Prtg |
G |
A |
9: 72,819,273 (GRCm39) |
G1089S |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,978,020 (GRCm39) |
D596G |
probably benign |
Het |
| Rora |
A |
T |
9: 69,104,804 (GRCm39) |
R43* |
probably null |
Het |
| Sez6 |
T |
C |
11: 77,863,963 (GRCm39) |
Y482H |
probably damaging |
Het |
| Skint2 |
A |
T |
4: 112,483,122 (GRCm39) |
N176Y |
probably damaging |
Het |
| Slc44a2 |
G |
T |
9: 21,259,445 (GRCm39) |
|
probably null |
Het |
| Sox6 |
A |
G |
7: 115,089,044 (GRCm39) |
V606A |
possibly damaging |
Het |
| Spa17 |
T |
C |
9: 37,514,587 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
C |
10: 5,252,160 (GRCm39) |
L2498R |
probably damaging |
Het |
| Synpo2 |
T |
G |
3: 122,911,333 (GRCm39) |
H104P |
probably benign |
Het |
| Tapbp |
G |
T |
17: 34,138,943 (GRCm39) |
A46S |
probably damaging |
Het |
| Tbc1d30 |
C |
A |
10: 121,107,962 (GRCm39) |
R480L |
probably benign |
Het |
| Tshz1 |
T |
C |
18: 84,032,944 (GRCm39) |
D488G |
possibly damaging |
Het |
| Ulk1 |
A |
G |
5: 110,956,908 (GRCm39) |
L70P |
probably damaging |
Het |
| Zcchc17 |
T |
A |
4: 130,221,116 (GRCm39) |
D145V |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,716,978 (GRCm39) |
L1037M |
probably damaging |
Het |
| Zfp324 |
C |
T |
7: 12,704,524 (GRCm39) |
Q238* |
probably null |
Het |
| Zfp874a |
A |
G |
13: 67,590,776 (GRCm39) |
Y303H |
possibly damaging |
Het |
| Zfp975 |
T |
C |
7: 42,311,918 (GRCm39) |
K232E |
probably benign |
Het |
| Zfp982 |
T |
A |
4: 147,597,718 (GRCm39) |
N358K |
probably benign |
Het |
| Zmiz1 |
C |
T |
14: 25,650,092 (GRCm39) |
P417S |
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 |
|
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'- TTCCAAAGTTCTGAGGGATCCCC -3'
(R):5'- AATGCCTGGTCCTGCAATG -3'
Sequencing Primer
(F):5'- CCCAAATCCTGATGGCCC -3'
(R):5'- AATGCCTGGTCCCGCAATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation