Incidental Mutation 'IGL03101:Rbm43'
| ID |
418735 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm43
|
| Ensembl Gene |
ENSMUSG00000036249 |
| Gene Name |
RNA binding motif protein 43 |
| Synonyms |
0610033I05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL03101
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
51814460-51825175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51816757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 70
(I70N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102767]
[ENSMUST00000102768]
[ENSMUST00000165313]
|
| AlphaFold |
Q99J64 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102767
AA Change: I70N
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099828
Gene: ENSMUSG00000036249
AA Change: I70N
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
16 |
86 |
4.71e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102768
AA Change: I70N
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099829
Gene: ENSMUSG00000036249
AA Change: I70N
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
16 |
86 |
4.71e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126090
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152800
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165313
AA Change: I70N
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000126129
Gene: ENSMUSG00000036249
AA Change: I70N
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
16 |
86 |
4.71e-2 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA474408 |
A |
T |
7: 109,660,177 (GRCm39) |
|
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,207,732 (GRCm39) |
V23D |
probably damaging |
Het |
| Adam8 |
G |
T |
7: 139,568,456 (GRCm39) |
N260K |
possibly damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,591,906 (GRCm39) |
I457L |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,867,421 (GRCm39) |
N808S |
possibly damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,327,082 (GRCm39) |
T532A |
possibly damaging |
Het |
| Cfap65 |
G |
T |
1: 74,967,592 (GRCm39) |
T162N |
possibly damaging |
Het |
| Clec12b |
A |
G |
6: 129,356,480 (GRCm39) |
|
probably null |
Het |
| Creb3 |
T |
C |
4: 43,563,081 (GRCm39) |
V60A |
probably benign |
Het |
| Cyp11b1 |
A |
G |
15: 74,707,703 (GRCm39) |
F469L |
probably benign |
Het |
| Defb28 |
A |
T |
2: 152,362,047 (GRCm39) |
E69V |
possibly damaging |
Het |
| Etnppl |
T |
C |
3: 130,415,967 (GRCm39) |
L118S |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,072,144 (GRCm39) |
Y213C |
probably damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,676,421 (GRCm39) |
W480R |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,395,279 (GRCm39) |
M4205L |
probably benign |
Het |
| Kif5a |
A |
T |
10: 127,071,478 (GRCm39) |
|
probably benign |
Het |
| Lmbrd2 |
C |
T |
15: 9,186,695 (GRCm39) |
R557C |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,963,284 (GRCm39) |
|
probably null |
Het |
| Npc1 |
A |
G |
18: 12,331,596 (GRCm39) |
I858T |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,725 (GRCm39) |
T170A |
probably benign |
Het |
| Pecam1 |
A |
G |
11: 106,588,177 (GRCm39) |
V92A |
probably damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,393,708 (GRCm39) |
Y474C |
probably benign |
Het |
| Slco2a1 |
G |
A |
9: 102,954,205 (GRCm39) |
G459R |
possibly damaging |
Het |
| Snca |
T |
A |
6: 60,804,595 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
T |
C |
4: 42,793,424 (GRCm39) |
D236G |
possibly damaging |
Het |
| Stap2 |
T |
A |
17: 56,309,029 (GRCm39) |
I113F |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,764 (GRCm39) |
M198T |
probably benign |
Het |
| Trim9 |
T |
C |
12: 70,393,428 (GRCm39) |
E172G |
probably damaging |
Het |
| Ttll7 |
T |
C |
3: 146,602,445 (GRCm39) |
V81A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,782 (GRCm39) |
Y53C |
probably damaging |
Het |
| Vmn2r22 |
C |
A |
6: 123,614,295 (GRCm39) |
A432S |
probably benign |
Het |
| Zfp943 |
T |
C |
17: 22,211,156 (GRCm39) |
S81P |
probably damaging |
Het |
|
| Other mutations in Rbm43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01775:Rbm43
|
APN |
2 |
51,815,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0015:Rbm43
|
UTSW |
2 |
51,815,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0015:Rbm43
|
UTSW |
2 |
51,815,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0034:Rbm43
|
UTSW |
2 |
51,815,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0034:Rbm43
|
UTSW |
2 |
51,815,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1909:Rbm43
|
UTSW |
2 |
51,815,446 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1972:Rbm43
|
UTSW |
2 |
51,815,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4709:Rbm43
|
UTSW |
2 |
51,819,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Rbm43
|
UTSW |
2 |
51,822,435 (GRCm39) |
start gained |
probably benign |
|
|
R5378:Rbm43
|
UTSW |
2 |
51,815,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5490:Rbm43
|
UTSW |
2 |
51,815,607 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6502:Rbm43
|
UTSW |
2 |
51,815,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7585:Rbm43
|
UTSW |
2 |
51,816,763 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7894:Rbm43
|
UTSW |
2 |
51,815,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8305:Rbm43
|
UTSW |
2 |
51,816,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Rbm43
|
UTSW |
2 |
51,824,930 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation