Incidental Mutation 'IGL02513:Rbm44'
| ID |
296647 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm44
|
| Ensembl Gene |
ENSMUSG00000070732 |
| Gene Name |
RNA binding motif protein 44 |
| Synonyms |
LOC329207 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL02513
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
91072811-91098517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91083260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 594
(S594R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094698]
[ENSMUST00000188818]
|
| AlphaFold |
Q3V089 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094698
AA Change: S594R
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092286
Gene: ENSMUSG00000070732
AA Change: S594R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
460 |
N/A |
INTRINSIC |
|
RRM
|
793 |
861 |
8.27e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188818
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male mice homozygous or heterozygous for a knock-out allele exhibit enhanced fertility with increased litter size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
G |
T |
12: 8,042,979 (GRCm39) |
V787F |
probably benign |
Het |
| Atg14 |
T |
C |
14: 47,786,451 (GRCm39) |
I268V |
probably benign |
Het |
| Atg14 |
T |
A |
14: 47,783,081 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
T |
9: 53,408,562 (GRCm39) |
|
probably benign |
Het |
| Ccdc9 |
A |
G |
7: 16,018,434 (GRCm39) |
|
probably benign |
Het |
| Cers6 |
T |
C |
2: 68,899,013 (GRCm39) |
F217S |
probably benign |
Het |
| Crebbp |
A |
C |
16: 3,944,469 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,049,869 (GRCm39) |
|
probably benign |
Het |
| Dmac2l |
A |
T |
12: 69,787,819 (GRCm39) |
Y85F |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,496,571 (GRCm39) |
V609E |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,636 (GRCm39) |
S204P |
probably damaging |
Het |
| Gpr152 |
A |
G |
19: 4,192,843 (GRCm39) |
D128G |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,927,844 (GRCm39) |
V1013D |
possibly damaging |
Het |
| Kctd18 |
A |
G |
1: 58,004,559 (GRCm39) |
Y112H |
probably damaging |
Het |
| Kdm4d |
T |
A |
9: 14,375,850 (GRCm39) |
T3S |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,000,765 (GRCm39) |
|
probably null |
Het |
| Mex3c |
T |
A |
18: 73,723,360 (GRCm39) |
D484E |
possibly damaging |
Het |
| Nalf1 |
T |
A |
8: 9,257,930 (GRCm39) |
D406V |
probably benign |
Het |
| Nat14 |
T |
C |
7: 4,927,050 (GRCm39) |
V74A |
possibly damaging |
Het |
| Or2b6 |
A |
G |
13: 21,823,510 (GRCm39) |
F61S |
probably damaging |
Het |
| Pabpc2 |
C |
T |
18: 39,908,193 (GRCm39) |
T486I |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,260,289 (GRCm39) |
|
probably benign |
Het |
| Pkn3 |
T |
A |
2: 29,973,149 (GRCm39) |
I353N |
probably damaging |
Het |
| Rrbp1 |
C |
T |
2: 143,830,350 (GRCm39) |
A606T |
possibly damaging |
Het |
| Tcof1 |
A |
G |
18: 60,964,850 (GRCm39) |
V623A |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,577,123 (GRCm39) |
E1482G |
probably benign |
Het |
| Uba1 |
A |
G |
X: 20,541,885 (GRCm39) |
T546A |
probably benign |
Het |
| Vmn2r37 |
T |
C |
7: 9,220,934 (GRCm39) |
K310E |
probably benign |
Het |
| Zbtb38 |
A |
T |
9: 96,569,126 (GRCm39) |
W653R |
probably damaging |
Het |
| Zdhhc19 |
A |
T |
16: 32,318,440 (GRCm39) |
I99F |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,239 (GRCm39) |
Y974C |
probably damaging |
Het |
|
| Other mutations in Rbm44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Rbm44
|
APN |
1 |
91,084,831 (GRCm39) |
missense |
probably benign |
|
|
IGL01089:Rbm44
|
APN |
1 |
91,096,419 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01339:Rbm44
|
APN |
1 |
91,096,686 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01410:Rbm44
|
APN |
1 |
91,096,551 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01624:Rbm44
|
APN |
1 |
91,084,380 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01963:Rbm44
|
APN |
1 |
91,090,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02067:Rbm44
|
APN |
1 |
91,080,567 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02804:Rbm44
|
APN |
1 |
91,077,898 (GRCm39) |
intron |
probably benign |
|
|
IGL02806:Rbm44
|
APN |
1 |
91,080,799 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02887:Rbm44
|
APN |
1 |
91,080,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03309:Rbm44
|
APN |
1 |
91,096,562 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0360:Rbm44
|
UTSW |
1 |
91,080,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0364:Rbm44
|
UTSW |
1 |
91,080,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0647:Rbm44
|
UTSW |
1 |
91,084,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1345:Rbm44
|
UTSW |
1 |
91,080,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1352:Rbm44
|
UTSW |
1 |
91,080,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1575:Rbm44
|
UTSW |
1 |
91,084,565 (GRCm39) |
splice site |
probably null |
|
|
R1768:Rbm44
|
UTSW |
1 |
91,081,679 (GRCm39) |
splice site |
probably null |
|
|
R4901:Rbm44
|
UTSW |
1 |
91,081,050 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4913:Rbm44
|
UTSW |
1 |
91,083,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Rbm44
|
UTSW |
1 |
91,096,820 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5569:Rbm44
|
UTSW |
1 |
91,096,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5874:Rbm44
|
UTSW |
1 |
91,084,562 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5981:Rbm44
|
UTSW |
1 |
91,080,411 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6441:Rbm44
|
UTSW |
1 |
91,084,799 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6515:Rbm44
|
UTSW |
1 |
91,092,860 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7380:Rbm44
|
UTSW |
1 |
91,079,938 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7783:Rbm44
|
UTSW |
1 |
91,096,551 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8004:Rbm44
|
UTSW |
1 |
91,079,880 (GRCm39) |
splice site |
probably benign |
|
|
R8678:Rbm44
|
UTSW |
1 |
91,080,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8891:Rbm44
|
UTSW |
1 |
91,090,136 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Rbm44
|
UTSW |
1 |
91,081,122 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation