Incidental Mutation 'R1511:Rbm12'
| ID |
168282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm12
|
| Ensembl Gene |
ENSMUSG00000089824 |
| Gene Name |
RNA binding motif protein 12 |
| Synonyms |
SWAN, 5730420G12Rik, 9430070C08Rik |
| MMRRC Submission |
039558-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.887)
|
| Stock # |
R1511 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
156091958-156111978 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156097536 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 272
(M272K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059647]
[ENSMUST00000079312]
[ENSMUST00000109604]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000128499]
[ENSMUST00000131377]
[ENSMUST00000132494]
[ENSMUST00000133921]
[ENSMUST00000136296]
[ENSMUST00000153634]
[ENSMUST00000183972]
[ENSMUST00000184265]
[ENSMUST00000138068]
[ENSMUST00000142960]
[ENSMUST00000184152]
[ENSMUST00000183518]
[ENSMUST00000147627]
[ENSMUST00000154889]
[ENSMUST00000184899]
|
| AlphaFold |
Q8R4X3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059647
AA Change: M272K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: M272K
| 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: M272K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: M272K
| 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: M183K
|
| SMART Domains |
Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950
AA Change: M183K
| 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 |
unknown
Transcript: ENSMUST00000131377
AA Change: M272K
|
| SMART Domains |
Protein: ENSMUSP00000120731
Gene: ENSMUSG00000089824
AA Change: M272K
| 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 |
possibly damaging
Transcript: ENSMUST00000132494
AA Change: M272K
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950
AA Change: M272K
| 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 |
noncoding transcript
Transcript: ENSMUST00000142975
|
| 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: 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: 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 |
|
| 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: 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: 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: 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: 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: 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: 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: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.7%
|
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
C |
A |
5: 125,514,977 (GRCm38) |
N576K |
probably benign |
Het |
| Abca5 |
T |
A |
11: 110,299,986 (GRCm38) |
H766L |
possibly damaging |
Het |
| Abca5 |
G |
T |
11: 110,299,978 (GRCm38) |
L769M |
probably damaging |
Het |
| Acvr1c |
A |
G |
2: 58,287,884 (GRCm38) |
I191T |
probably damaging |
Het |
| Agps |
A |
T |
2: 75,866,779 (GRCm38) |
E314D |
probably damaging |
Het |
| Agxt |
G |
A |
1: 93,135,768 (GRCm38) |
G131R |
probably damaging |
Het |
| Ak8 |
A |
G |
2: 28,742,746 (GRCm38) |
T326A |
probably benign |
Het |
| Aldoart2 |
T |
A |
12: 55,566,277 (GRCm38) |
I329N |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 91,060,185 (GRCm38) |
I342V |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,527,161 (GRCm38) |
S68P |
probably benign |
Het |
| Arsi |
G |
A |
18: 60,916,651 (GRCm38) |
G202E |
probably benign |
Het |
| AU022252 |
C |
T |
4: 119,228,097 (GRCm38) |
R71Q |
possibly damaging |
Het |
| Baz1b |
T |
C |
5: 135,217,782 (GRCm38) |
L695P |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,962,024 (GRCm38) |
S587T |
probably benign |
Het |
| Cep76 |
T |
C |
18: 67,624,958 (GRCm38) |
M421V |
probably benign |
Het |
| Clk2 |
A |
G |
3: 89,168,703 (GRCm38) |
D60G |
probably damaging |
Het |
| Clstn3 |
G |
T |
6: 124,462,169 (GRCm38) |
T6K |
probably damaging |
Het |
| Cluap1 |
T |
A |
16: 3,919,558 (GRCm38) |
D180E |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,699,552 (GRCm38) |
I530V |
probably benign |
Het |
| Cpt1a |
T |
C |
19: 3,365,788 (GRCm38) |
|
probably benign |
Het |
| Cr2 |
T |
G |
1: 195,155,272 (GRCm38) |
K797Q |
possibly damaging |
Het |
| Crybg3 |
C |
A |
16: 59,554,112 (GRCm38) |
V2260L |
probably benign |
Het |
| Csnk1a1 |
T |
A |
18: 61,585,250 (GRCm38) |
|
probably benign |
Het |
| Cxcr1 |
T |
C |
1: 74,192,770 (GRCm38) |
D31G |
probably benign |
Het |
| Cyp2a5 |
G |
T |
7: 26,835,936 (GRCm38) |
D108Y |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,222,727 (GRCm38) |
V376A |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,236,278 (GRCm38) |
V462A |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,290,477 (GRCm38) |
K357R |
possibly damaging |
Het |
| Eml6 |
T |
A |
11: 29,818,374 (GRCm38) |
H771L |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 33,832,664 (GRCm38) |
I370T |
probably benign |
Het |
| Esp36 |
A |
T |
17: 38,417,281 (GRCm38) |
N79K |
possibly damaging |
Het |
| Fam229b |
A |
G |
10: 39,118,919 (GRCm38) |
*81Q |
probably null |
Het |
| Fat4 |
T |
C |
3: 38,983,076 (GRCm38) |
Y3626H |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,306,285 (GRCm38) |
F2681Y |
probably benign |
Het |
| Gad1-ps |
A |
G |
10: 99,445,469 (GRCm38) |
|
noncoding transcript |
Het |
| Galm |
C |
A |
17: 80,183,267 (GRCm38) |
N284K |
probably damaging |
Het |
| Gtf3c2 |
A |
T |
5: 31,159,102 (GRCm38) |
S735T |
probably benign |
Het |
| Hsph1 |
A |
T |
5: 149,630,383 (GRCm38) |
S207T |
probably benign |
Het |
| Il33 |
C |
T |
19: 29,955,215 (GRCm38) |
R159C |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,382,148 (GRCm38) |
N106S |
possibly damaging |
Het |
| Kif21b |
G |
T |
1: 136,169,324 (GRCm38) |
|
probably null |
Het |
| Kirrel2 |
A |
G |
7: 30,456,498 (GRCm38) |
C42R |
probably damaging |
Het |
| Letm1 |
A |
C |
5: 33,752,555 (GRCm38) |
C378W |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,745,484 (GRCm38) |
K160N |
probably benign |
Het |
| Lrrtm3 |
A |
G |
10: 64,089,025 (GRCm38) |
I121T |
probably damaging |
Het |
| Lztr1 |
T |
A |
16: 17,509,670 (GRCm38) |
V79E |
probably damaging |
Het |
| Mmp8 |
T |
G |
9: 7,566,278 (GRCm38) |
D378E |
probably damaging |
Het |
| Mpzl3 |
A |
G |
9: 45,066,529 (GRCm38) |
E145G |
probably damaging |
Het |
| Mrps2 |
C |
T |
2: 28,469,664 (GRCm38) |
L178F |
probably damaging |
Het |
| Mzb1 |
A |
G |
18: 35,647,822 (GRCm38) |
|
probably null |
Het |
| Nckap1 |
T |
C |
2: 80,553,415 (GRCm38) |
D135G |
probably damaging |
Het |
| Ndst1 |
A |
G |
18: 60,697,170 (GRCm38) |
F623L |
possibly damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,413,347 (GRCm38) |
D143V |
probably damaging |
Het |
| Olfr1225 |
A |
G |
2: 89,170,937 (GRCm38) |
S92P |
probably damaging |
Het |
| Olfr1241 |
T |
C |
2: 89,482,248 (GRCm38) |
M296V |
probably null |
Het |
| Olfr1311 |
A |
G |
2: 112,021,404 (GRCm38) |
V150A |
probably benign |
Het |
| Olfr146 |
T |
C |
9: 39,019,025 (GRCm38) |
D172G |
probably benign |
Het |
| Olfr307 |
T |
C |
7: 86,336,345 (GRCm38) |
D17G |
possibly damaging |
Het |
| Olfr32 |
A |
G |
2: 90,138,404 (GRCm38) |
V245A |
probably benign |
Het |
| Olfr548-ps1 |
T |
C |
7: 102,542,125 (GRCm38) |
L63P |
probably damaging |
Het |
| Olfr907 |
A |
G |
9: 38,498,818 (GRCm38) |
I50V |
probably benign |
Het |
| Parp14 |
T |
G |
16: 35,857,224 (GRCm38) |
E791D |
probably benign |
Het |
| Pcdh8 |
C |
T |
14: 79,769,389 (GRCm38) |
R578H |
possibly damaging |
Het |
| Phrf1 |
T |
A |
7: 141,259,801 (GRCm38) |
|
probably benign |
Het |
| Polr3b |
C |
A |
10: 84,680,385 (GRCm38) |
H626N |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,251,859 (GRCm38) |
T58A |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,182,460 (GRCm38) |
V33D |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 17,009,982 (GRCm38) |
Y176H |
probably damaging |
Het |
| R3hdm1 |
A |
G |
1: 128,197,005 (GRCm38) |
Y343C |
probably damaging |
Het |
| Rabac1 |
C |
T |
7: 24,972,130 (GRCm38) |
V122M |
probably damaging |
Het |
| Rasef |
G |
T |
4: 73,735,748 (GRCm38) |
Q561K |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,195,634 (GRCm38) |
S198P |
probably damaging |
Het |
| Rexo1 |
T |
G |
10: 80,550,050 (GRCm38) |
K391N |
possibly damaging |
Het |
| Rnf43 |
T |
C |
11: 87,731,347 (GRCm38) |
S384P |
probably benign |
Het |
| Rpsa |
A |
T |
9: 120,131,000 (GRCm38) |
I210F |
possibly damaging |
Het |
| Rslcan18 |
A |
G |
13: 67,098,952 (GRCm38) |
Y75H |
possibly damaging |
Het |
| Scn9a |
T |
A |
2: 66,526,813 (GRCm38) |
D1048V |
probably benign |
Het |
| Sec11a |
T |
C |
7: 80,927,734 (GRCm38) |
|
probably null |
Het |
| Sidt2 |
A |
G |
9: 45,950,089 (GRCm38) |
V19A |
probably damaging |
Het |
| Snx14 |
G |
A |
9: 88,398,364 (GRCm38) |
Q522* |
probably null |
Het |
| Stx1b |
A |
G |
7: 127,814,972 (GRCm38) |
L74S |
probably damaging |
Het |
| Tm7sf3 |
A |
T |
6: 146,609,878 (GRCm38) |
M371K |
probably benign |
Het |
| Tmem115 |
T |
C |
9: 107,534,975 (GRCm38) |
V166A |
probably benign |
Het |
| Traf5 |
T |
A |
1: 191,999,951 (GRCm38) |
T310S |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,466,452 (GRCm38) |
K619E |
probably benign |
Het |
| Trmt10a |
T |
A |
3: 138,152,184 (GRCm38) |
|
probably null |
Het |
| Txk |
A |
C |
5: 72,707,671 (GRCm38) |
I287R |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,151,887 (GRCm38) |
D452G |
probably damaging |
Het |
| Ube2f |
G |
A |
1: 91,262,301 (GRCm38) |
|
probably null |
Het |
| Ubtfl1 |
T |
G |
9: 18,410,193 (GRCm38) |
I339R |
probably benign |
Het |
| Upf1 |
A |
G |
8: 70,338,505 (GRCm38) |
I529T |
probably damaging |
Het |
| Vmn1r197 |
A |
G |
13: 22,328,653 (GRCm38) |
D248G |
possibly damaging |
Het |
| Vmn1r5 |
A |
T |
6: 56,985,786 (GRCm38) |
T149S |
probably benign |
Het |
| Vmn1r83 |
C |
T |
7: 12,321,270 (GRCm38) |
V287I |
possibly damaging |
Het |
| Vmn2r118 |
G |
A |
17: 55,608,496 (GRCm38) |
R485* |
probably null |
Het |
| Vmn2r-ps130 |
A |
G |
17: 23,063,801 (GRCm38) |
T152A |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,839,975 (GRCm38) |
F2448L |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,841,573 (GRCm38) |
N2583S |
probably benign |
Het |
| Wscd1 |
C |
T |
11: 71,788,675 (GRCm38) |
P458L |
probably damaging |
Het |
| Xylt2 |
T |
A |
11: 94,670,433 (GRCm38) |
D168V |
probably damaging |
Het |
| Zdhhc2 |
A |
G |
8: 40,467,972 (GRCm38) |
T306A |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,769,771 (GRCm38) |
D1097E |
possibly damaging |
Het |
| Zfp93 |
T |
A |
7: 24,275,731 (GRCm38) |
C380* |
probably null |
Het |
| Zfp960 |
T |
A |
17: 17,088,256 (GRCm38) |
C411S |
probably damaging |
Het |
| Zmynd15 |
T |
A |
11: 70,464,793 (GRCm38) |
V430E |
probably damaging |
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 |
|
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 |
|
|
R7424:Rbm12
|
UTSW |
2 |
156,097,303 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
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'- TGATATGACCTCCAGCAGCTACCC -3'
(R):5'- CCAATCCCAGCGATGCCATCTTTG -3'
Sequencing Primer
(F):5'- GGCAGGACTGACTTCCACATAG -3'
(R):5'- GATGCCATCTTTGCCACCG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation