Incidental Mutation 'IGL01963:Rbm44'
ID |
182462 |
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 # |
IGL01963
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
91072811-91098517 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91090830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 755
(I755V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092286
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094698]
|
AlphaFold |
Q3V089 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094698
AA Change: I755V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000092286 Gene: ENSMUSG00000070732 AA Change: I755V
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 |
|
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 |
2610042L04Rik |
G |
A |
14: 4,350,856 (GRCm38) |
G130D |
probably damaging |
Het |
Abca8b |
T |
A |
11: 109,862,589 (GRCm39) |
D392V |
probably damaging |
Het |
Cep43 |
A |
T |
17: 8,411,109 (GRCm39) |
D354V |
probably damaging |
Het |
Clptm1l |
T |
A |
13: 73,765,688 (GRCm39) |
|
probably benign |
Het |
Creb3l1 |
G |
A |
2: 91,823,678 (GRCm39) |
T178I |
probably benign |
Het |
Ctsd |
A |
G |
7: 141,930,336 (GRCm39) |
|
probably null |
Het |
Dcstamp |
A |
T |
15: 39,623,755 (GRCm39) |
I401F |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,370,682 (GRCm39) |
D2874G |
probably benign |
Het |
Fcsk |
A |
G |
8: 111,620,034 (GRCm39) |
F281S |
probably damaging |
Het |
Fli1 |
T |
A |
9: 32,335,503 (GRCm39) |
K310* |
probably null |
Het |
Fndc4 |
C |
T |
5: 31,452,556 (GRCm39) |
|
probably null |
Het |
Gc |
G |
A |
5: 89,569,981 (GRCm39) |
|
probably benign |
Het |
Krtap26-1 |
A |
G |
16: 88,444,556 (GRCm39) |
C22R |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,911,367 (GRCm39) |
G6422S |
probably benign |
Het |
Or10d5 |
C |
A |
9: 39,861,536 (GRCm39) |
C177F |
probably damaging |
Het |
Or10j2 |
T |
A |
1: 173,097,919 (GRCm39) |
M59K |
probably damaging |
Het |
Or5b21 |
T |
A |
19: 12,839,746 (GRCm39) |
F202L |
probably benign |
Het |
Pgr |
C |
T |
9: 8,922,669 (GRCm39) |
P613L |
probably damaging |
Het |
Pnpla8 |
C |
A |
12: 44,342,816 (GRCm39) |
A524E |
possibly damaging |
Het |
Psma2 |
A |
T |
13: 14,793,948 (GRCm39) |
I105F |
probably damaging |
Het |
Ptprg |
A |
G |
14: 12,220,661 (GRCm38) |
R458G |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,698,733 (GRCm39) |
K1077E |
possibly damaging |
Het |
Rps20 |
A |
C |
4: 3,834,494 (GRCm39) |
|
probably benign |
Het |
Sel1l3 |
A |
C |
5: 53,357,680 (GRCm39) |
V104G |
probably damaging |
Het |
Sirpb1c |
T |
C |
3: 15,892,937 (GRCm39) |
N89S |
probably benign |
Het |
Slc25a16 |
G |
A |
10: 62,766,220 (GRCm39) |
|
probably null |
Het |
Sulf1 |
C |
T |
1: 12,888,731 (GRCm39) |
R339C |
probably damaging |
Het |
Tedc2 |
C |
T |
17: 24,436,926 (GRCm39) |
A270T |
probably benign |
Het |
Trem3 |
T |
C |
17: 48,554,880 (GRCm39) |
S2P |
possibly damaging |
Het |
Vps37a |
G |
T |
8: 40,993,771 (GRCm39) |
Q255H |
probably damaging |
Het |
Zfp352 |
C |
T |
4: 90,112,391 (GRCm39) |
A177V |
possibly 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 |
IGL02067:Rbm44
|
APN |
1 |
91,080,567 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02513:Rbm44
|
APN |
1 |
91,083,260 (GRCm39) |
missense |
possibly damaging |
0.63 |
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 |
2014-05-07 |