Incidental Mutation 'IGL00953:Rbm12b1'
| ID |
27296 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm12b1
|
| Ensembl Gene |
ENSMUSG00000046667 |
| Gene Name |
RNA binding motif protein 12 B1 |
| Synonyms |
Rbm12b, 3000004N20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
IGL00953
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
12140264-12146731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12146038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 670
(D670G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050069]
[ENSMUST00000069128]
|
| AlphaFold |
Q80YR9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050069
AA Change: D670G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000053555
Gene: ENSMUSG00000046667
AA Change: D670G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
4 |
72 |
2.1e-1 |
SMART |
|
low complexity region
|
115 |
125 |
N/A |
INTRINSIC |
|
RRM
|
155 |
225 |
5.59e-4 |
SMART |
|
RRM
|
284 |
355 |
4.87e-4 |
SMART |
|
RRM
|
402 |
474 |
2.28e-9 |
SMART |
|
RRM
|
761 |
834 |
1.51e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069128
AA Change: D670G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000064195
Gene: ENSMUSG00000046667
AA Change: D670G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
4 |
72 |
2.1e-1 |
SMART |
|
low complexity region
|
115 |
125 |
N/A |
INTRINSIC |
|
RRM
|
155 |
225 |
5.59e-4 |
SMART |
|
RRM
|
284 |
355 |
4.87e-4 |
SMART |
|
RRM
|
402 |
474 |
2.28e-9 |
SMART |
|
RRM
|
761 |
834 |
1.51e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146416
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,902,047 (GRCm39) |
E726G |
probably benign |
Het |
| Cdyl2 |
T |
A |
8: 117,321,928 (GRCm39) |
|
probably benign |
Het |
| Cep41 |
T |
C |
6: 30,660,966 (GRCm39) |
T109A |
probably benign |
Het |
| Clca3b |
C |
T |
3: 144,552,972 (GRCm39) |
W84* |
probably null |
Het |
| Cyp27b1 |
A |
G |
10: 126,885,551 (GRCm39) |
D130G |
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 26,829,242 (GRCm39) |
V249A |
possibly damaging |
Het |
| Cyth3 |
G |
A |
5: 143,692,920 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
T |
17: 30,925,431 (GRCm39) |
E1289* |
probably null |
Het |
| Fam171a1 |
A |
T |
2: 3,179,327 (GRCm39) |
D51V |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,488,896 (GRCm39) |
R107G |
possibly damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,294 (GRCm39) |
F85L |
possibly damaging |
Het |
| Hivep3 |
A |
C |
4: 119,955,571 (GRCm39) |
T1296P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,976,021 (GRCm39) |
S670T |
probably benign |
Het |
| Klhl24 |
A |
T |
16: 19,941,717 (GRCm39) |
N555I |
possibly damaging |
Het |
| Limd1 |
T |
A |
9: 123,308,948 (GRCm39) |
S216T |
probably benign |
Het |
| Lmf2 |
A |
T |
15: 89,238,102 (GRCm39) |
I234N |
probably damaging |
Het |
| Mrpl4 |
C |
A |
9: 20,919,863 (GRCm39) |
D271E |
probably benign |
Het |
| Mydgf |
C |
T |
17: 56,486,407 (GRCm39) |
G75R |
probably damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,630 (GRCm39) |
D5G |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,636 (GRCm39) |
V322A |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,895,052 (GRCm39) |
Y130* |
probably null |
Het |
| Or5k15 |
A |
C |
16: 58,710,048 (GRCm39) |
H178Q |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,077,951 (GRCm39) |
M363K |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,329 (GRCm39) |
F137S |
probably damaging |
Het |
| Rrp12 |
C |
A |
19: 41,860,231 (GRCm39) |
M997I |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,327,736 (GRCm39) |
V918A |
probably benign |
Het |
| Slc35g2 |
A |
G |
9: 100,434,516 (GRCm39) |
V385A |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,590,739 (GRCm39) |
I1311N |
probably damaging |
Het |
| Ube2j2 |
C |
T |
4: 156,030,834 (GRCm39) |
|
probably benign |
Het |
| Ucp2 |
A |
G |
7: 100,147,629 (GRCm39) |
T203A |
probably benign |
Het |
| Upk1b |
C |
T |
16: 38,600,347 (GRCm39) |
G211D |
possibly damaging |
Het |
| Vmn1r220 |
A |
T |
13: 23,367,935 (GRCm39) |
F254I |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,965,638 (GRCm39) |
F314S |
probably damaging |
Het |
|
| Other mutations in Rbm12b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02103:Rbm12b1
|
APN |
4 |
12,145,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03165:Rbm12b1
|
APN |
4 |
12,145,845 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4618001:Rbm12b1
|
UTSW |
4 |
12,145,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:Rbm12b1
|
UTSW |
4 |
12,145,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0528:Rbm12b1
|
UTSW |
4 |
12,145,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0571:Rbm12b1
|
UTSW |
4 |
12,146,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1476:Rbm12b1
|
UTSW |
4 |
12,145,817 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1709:Rbm12b1
|
UTSW |
4 |
12,145,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1759:Rbm12b1
|
UTSW |
4 |
12,145,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Rbm12b1
|
UTSW |
4 |
12,146,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2055:Rbm12b1
|
UTSW |
4 |
12,145,606 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2425:Rbm12b1
|
UTSW |
4 |
12,146,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4015:Rbm12b1
|
UTSW |
4 |
12,145,491 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4332:Rbm12b1
|
UTSW |
4 |
12,145,655 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5773:Rbm12b1
|
UTSW |
4 |
12,145,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6497:Rbm12b1
|
UTSW |
4 |
12,146,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7740:Rbm12b1
|
UTSW |
4 |
12,145,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7761:Rbm12b1
|
UTSW |
4 |
12,146,460 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8083:Rbm12b1
|
UTSW |
4 |
12,146,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8129:Rbm12b1
|
UTSW |
4 |
12,145,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8389:Rbm12b1
|
UTSW |
4 |
12,146,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Rbm12b1
|
UTSW |
4 |
12,145,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9302:Rbm12b1
|
UTSW |
4 |
12,146,181 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1088:Rbm12b1
|
UTSW |
4 |
12,146,079 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation