Incidental Mutation 'IGL02371:Rbm22'
| ID |
290947 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm22
|
| Ensembl Gene |
ENSMUSG00000024604 |
| Gene Name |
RNA binding motif protein 22 |
| Synonyms |
8430430L24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
60693858-60705801 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 60705028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025506]
[ENSMUST00000056533]
|
| AlphaFold |
Q8BHS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025506
|
| SMART Domains |
Protein: ENSMUSP00000025506
Gene: ENSMUSG00000024604
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
159 |
185 |
8.15e-6 |
SMART |
|
RRM
|
233 |
301 |
7.94e-18 |
SMART |
|
low complexity region
|
325 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056533
|
| SMART Domains |
Protein: ENSMUSP00000063108
Gene: ENSMUSG00000049173
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calsarcin
|
1 |
244 |
1.6e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160353
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161544
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
T |
C |
10: 18,522,287 (GRCm39) |
T580A |
probably benign |
Het |
| Casp2 |
T |
A |
6: 42,244,902 (GRCm39) |
D100E |
probably benign |
Het |
| Cd1d1 |
C |
A |
3: 86,906,188 (GRCm39) |
R29L |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyct |
A |
G |
2: 76,184,434 (GRCm39) |
*106R |
probably null |
Het |
| Enam |
A |
G |
5: 88,650,668 (GRCm39) |
I726V |
probably benign |
Het |
| Epha3 |
T |
G |
16: 63,405,383 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,329,453 (GRCm39) |
D632G |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,384 (GRCm39) |
N125S |
possibly damaging |
Het |
| Fbxo32 |
A |
T |
15: 58,044,860 (GRCm39) |
|
probably benign |
Het |
| Foxa1 |
T |
C |
12: 57,589,486 (GRCm39) |
T245A |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,042,452 (GRCm39) |
V395A |
probably benign |
Het |
| Gimap5 |
A |
T |
6: 48,729,937 (GRCm39) |
N169I |
probably damaging |
Het |
| Itgav |
A |
G |
2: 83,600,397 (GRCm39) |
M266V |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,785,238 (GRCm39) |
S63F |
probably damaging |
Het |
| Lpp |
G |
A |
16: 24,580,361 (GRCm39) |
A26T |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,994 (GRCm39) |
Y159H |
probably damaging |
Het |
| Lzts1 |
A |
T |
8: 69,591,450 (GRCm39) |
S233T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,676,860 (GRCm39) |
|
probably benign |
Het |
| Nrf1 |
A |
T |
6: 30,118,990 (GRCm39) |
I382F |
possibly damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,362 (GRCm39) |
F171Y |
probably damaging |
Het |
| Or1m1 |
G |
T |
9: 18,666,000 (GRCm39) |
S310R |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,639,259 (GRCm39) |
V63D |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,595,427 (GRCm39) |
N484K |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,691 (GRCm39) |
|
probably null |
Het |
| Pot1b |
A |
G |
17: 56,002,092 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Ptchd4 |
G |
A |
17: 42,627,865 (GRCm39) |
G109S |
possibly damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,904,527 (GRCm39) |
N119S |
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,661,414 (GRCm39) |
S480R |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,275,535 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rbm22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01457:Rbm22
|
APN |
18 |
60,693,929 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02192:Rbm22
|
APN |
18 |
60,697,484 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02423:Rbm22
|
APN |
18 |
60,704,891 (GRCm39) |
unclassified |
probably benign |
|
|
P0016:Rbm22
|
UTSW |
18 |
60,703,842 (GRCm39) |
splice site |
probably benign |
|
|
R1635:Rbm22
|
UTSW |
18 |
60,694,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1715:Rbm22
|
UTSW |
18 |
60,693,916 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4720:Rbm22
|
UTSW |
18 |
60,697,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Rbm22
|
UTSW |
18 |
60,697,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4722:Rbm22
|
UTSW |
18 |
60,697,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Rbm22
|
UTSW |
18 |
60,693,899 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7797:Rbm22
|
UTSW |
18 |
60,694,344 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7896:Rbm22
|
UTSW |
18 |
60,702,505 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9479:Rbm22
|
UTSW |
18 |
60,699,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation