Incidental Mutation 'IGL01089:Rbm44'
| ID |
50233 |
| 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: 0.058)
|
| Stock # |
IGL01089
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
91072811-91098517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91096419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 926
(V926D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094698]
|
| AlphaFold |
Q3V089 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094698
AA Change: V926D
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092286
Gene: ENSMUSG00000070732
AA Change: V926D
| 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 |
noncoding transcript
Transcript: ENSMUST00000185229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191211
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,710,292 (GRCm39) |
L353S |
probably damaging |
Het |
| Adgrf2 |
G |
A |
17: 43,021,049 (GRCm39) |
P592S |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Afap1l2 |
A |
C |
19: 56,901,843 (GRCm39) |
|
probably null |
Het |
| Asnsd1 |
G |
A |
1: 53,387,436 (GRCm39) |
P64S |
probably damaging |
Het |
| Bmt2 |
A |
G |
6: 13,663,270 (GRCm39) |
M76T |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,529,283 (GRCm39) |
V797D |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,271,982 (GRCm39) |
S499P |
probably benign |
Het |
| Cyp27a1 |
A |
T |
1: 74,771,097 (GRCm39) |
Y94F |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,113,898 (GRCm39) |
S1765P |
probably benign |
Het |
| Fam149a |
A |
G |
8: 45,801,564 (GRCm39) |
L519P |
possibly damaging |
Het |
| Fam171a2 |
G |
A |
11: 102,328,674 (GRCm39) |
A695V |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,470,894 (GRCm39) |
V1566E |
probably damaging |
Het |
| Flvcr1 |
T |
G |
1: 190,745,587 (GRCm39) |
N361H |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,793,156 (GRCm39) |
N540S |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,394,485 (GRCm39) |
E187G |
probably damaging |
Het |
| Kcns3 |
T |
A |
12: 11,141,572 (GRCm39) |
T376S |
possibly damaging |
Het |
| Krt32 |
A |
G |
11: 99,978,605 (GRCm39) |
S150P |
probably benign |
Het |
| Liat1 |
A |
G |
11: 75,894,163 (GRCm39) |
E180G |
possibly damaging |
Het |
| Lrtm2 |
C |
T |
6: 119,297,753 (GRCm39) |
R96Q |
possibly damaging |
Het |
| Mctp1 |
A |
G |
13: 77,168,917 (GRCm39) |
E838G |
probably damaging |
Het |
| Mios |
T |
C |
6: 8,234,363 (GRCm39) |
|
probably null |
Het |
| Or1j10 |
A |
T |
2: 36,267,178 (GRCm39) |
Y130F |
probably damaging |
Het |
| Phldb1 |
T |
A |
9: 44,619,184 (GRCm39) |
K167* |
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,347,265 (GRCm39) |
|
probably benign |
Het |
| Plaa |
A |
G |
4: 94,462,284 (GRCm39) |
V531A |
probably benign |
Het |
| Psmb2 |
A |
G |
4: 126,577,999 (GRCm39) |
Y59C |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,215,286 (GRCm38) |
H1091R |
probably damaging |
Het |
| Rgma |
G |
T |
7: 73,059,462 (GRCm39) |
V189L |
possibly damaging |
Het |
| Sbf2 |
A |
T |
7: 109,948,169 (GRCm39) |
I1227K |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,710 (GRCm39) |
T443A |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,696,310 (GRCm39) |
V896A |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,879,977 (GRCm39) |
M1120V |
probably benign |
Het |
| Ugt2b34 |
C |
T |
5: 87,054,185 (GRCm39) |
V199I |
probably benign |
Het |
| Unc5c |
C |
A |
3: 141,523,963 (GRCm39) |
|
probably benign |
Het |
| Usp37 |
G |
A |
1: 74,532,205 (GRCm39) |
R63* |
probably null |
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 |
|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation